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Summary Literature (1113)
Literature for DOID 4: disease


Xenbase Articles :
( Denotes literature images)
Subthreshold changes of voltage-dependent activation of the K(V)7.2 channel in neonatal epilepsy., Hunter J,Maljevic S,Shankar A,Siegel A,Weissman B,Holt P,Olson L,Lerche H,Escayg A, Neurobiol Dis. October 1, 2006; 24(1):1095-953X.
The Na+:Cl- cotransporter is activated and phosphorylated at the amino-terminal domain upon intracellular chloride depletion., Pacheco-Alvarez D,Cristóbal PS,Meade P,Moreno E,Vazquez N,Muñoz E,Díaz A,Juárez ME,Giménez I,Gamba G, J Biol Chem. September 29, 2006; 281(39):1083-351X.
Characterization of atrazine-induced gonadal malformations in African clawed frogs (Xenopus laevis) and comparisons with effects of an androgen antagonist (cyproterone acetate) and exogenous estrogen (17beta-estradiol): Support for the demasculinization/feminization hypothesis., Hayes TB,Stuart AA,Mendoza M,Collins A,Noriega N,Vonk A,Johnston G,Liu R,Kpodzo D, Environ Health Perspect. April 1, 2006; 114 Suppl 1(Suppl 1):0091-6765.
Transforming growth factor beta signaling, vascular remodeling, and hypertension., August P,Suthanthiran M, N Engl J Med. June 22, 2006; 354(25):1533-4406.
Introduction to nucleocytoplasmic transport: molecules and mechanisms., Peters R, Methods Mol Biol. January 1, 2006; 322:1940-6029.
Negative regulation of Hedgehog signaling by the cholesterogenic enzyme 7-dehydrocholesterol reductase., Koide T,Hayata T,Cho KW, Development. June 1, 2006; 133(12):1477-9129.
The Wnt-dependent signaling pathways as target in oncology drug discovery., Janssens N,Janicot M,Perera T, Invest New Drugs. July 1, 2006; 24(4):0167-6997.
Effects of the abused inhalant toluene on ethanol-sensitive potassium channels expressed in oocytes., Del Re AM,Dopico AM,Woodward JJ, Dev Biol. May 4, 2006; 1087(1):0012-1606.
Fishing and frogging for anti-angiogenic drugs., De Smet F,Carmeliet P,Autiero M, Nat Chem Biol. May 1, 2006; 2(5):1552-4469.
Coupling modes and stoichiometry of Cl-/HCO3- exchange by slc26a3 and slc26a6., Shcheynikov N,Wang Y,Park M,Ko SB,Dorwart M,Naruse S,Thomas PJ,Muallem S, J Gen Physiol. May 1, 2006; 127(5):1540-7748.
Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome., Lu CW,Lin JH,Rajawat YS,Jerng H,Rami TG,Sanchez X,DeFreitas G,Carabello B,DeMayo F,Kearney DL,Miller G,Li H,Pfaffinger PJ,Bowles NE,Khoury DS,Towbin JA, J Med Genet. August 1, 2006; 43(8):1468-6244.
The MRH protein Erlectin is a member of the endoplasmic reticulum synexpression group and functions in N-glycan recognition., Cruciat CM,Hassler C,Niehrs C, J Biol Chem. May 5, 2006; 281(18):1083-351X.
Emilin1 links TGF-beta maturation to blood pressure homeostasis., Zacchigna L,Vecchione C,Notte A,Cordenonsi M,Dupont S,Maretto S,Cifelli G,Ferrari A,Maffei A,Fabbro C,Braghetta P,Marino G,Selvetella G,Aretini A,Colonnese C,Bettarini U,Russo G,Soligo S,Adorno M,Bonaldo P,Volpin D,Piccolo S,Lembo G,Bressan GM, Cell. March 10, 2006; 124(5):1097-4172.
WNK3 bypasses the tonicity requirement for K-Cl cotransporter activation via a phosphatase-dependent pathway., de Los Heros P,Kahle KT,Rinehart J,Bobadilla NA,Vázquez N,San Cristobal P,Mount DB,Lifton RP,Hebert SC,Gamba G, Proc Natl Acad Sci U S A. February 7, 2006; 103(6):1091-6490.
Dystroglycan is required for proper retinal layering., Lunardi A,Cremisi F,Dente L, Dev Biol. February 15, 2006; 290(2):1095-564X.
A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract., Arora A,Minogue PJ,Liu X,Reddy MA,Ainsworth JR,Bhattacharya SS,Webster AR,Hunt DM,Ebihara L,Moore AT,Beyer EC,Berthoud VM, J Med Genet. January 1, 2006; 43(1):1468-6244.
A dominant-negative form of the E3 ubiquitin ligase Cullin-1 disrupts the correct allocation of cell fate in the neural crest lineage., Voigt J,Papalopulu N, Development. February 1, 2006; 133(3):1477-9129.
Fanconi anemia proteins are required to prevent accumulation of replication-associated DNA double-strand breaks., Sobeck A,Stone S,Costanzo V,de Graaf B,Reuter T,de Winter J,Wallisch M,Akkari Y,Olson S,Wang W,Joenje H,Christian JL,Lupardus PJ,Cimprich KA,Gautier J,Hoatlin ME, Mol Cell Biol. January 1, 2006; 26(2):1098-5549.
Barrier-to-autointegration factor phosphorylation on Ser-4 regulates emerin binding to lamin A in vitro and emerin localization in vivo., Bengtsson L,Wilson KL, Mol Biol Cell. March 1, 2006; 17(3):1939-4586.
Dominant-negative effects of human P/Q-type Ca2+ channel mutations associated with episodic ataxia type 2., Jeng CJ,Chen YT,Chen YT,Chen YW,Chen YW,Tang CY, Am J Physiol Cell Physiol. April 1, 2006; 290(4):1522-1563.
A truncated Kv1.1 protein in the brain of the megencephaly mouse: expression and interaction., Persson AS,Klement G,Almgren M,Sahlholm K,Nilsson J,Petersson S,Arhem P,Schalling M,Lavebratt C, BMC Neurosci. November 23, 2005; 6:1471-2202.
The organization and inheritance of the mitochondrial genome., Chen XJ,Butow RA, Nat Rev Genet. November 1, 2005; 6(11):1471-0056.
WNK3 modulates transport of Cl- in and out of cells: implications for control of cell volume and neuronal excitability., Kahle KT,Rinehart J,de Los Heros P,Louvi A,Meade P,Vazquez N,Hebert SC,Gamba G,Gimenez I,Lifton RP, Proc Natl Acad Sci U S A. November 15, 2005; 102(46):1091-6490.
Xnf7 contributes to spindle integrity through its microtubule-bundling activity., Maresca TJ,Niederstrasser H,Weis K,Heald R, Curr Biol. October 11, 2005; 15(19):0960-9822.
Reduced U snRNP assembly causes motor axon degeneration in an animal model for spinal muscular atrophy., Winkler C,Eggert C,Gradl D,Meister G,Giegerich M,Wedlich D,Laggerbauer B,Fischer U, Genes Dev. October 1, 2005; 19(19):1549-5477.
Neural and eye-specific defects associated with loss of the imitation switch (ISWI) chromatin remodeler in Xenopus laevis., Dirscherl SS,Henry JJ,Krebs JE, Mech Dev. November 1, 2005; 122(11):1872-6356.
Cloning and functional characterization of the Xenopus orthologue of the Treacher Collins syndrome (TCOF1) gene product., Gonzales B,Yang H,Henning D,Valdez BC, Gene. October 10, 2005; 359:1879-0038.
ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies., Wiszniewski W,Zaremba CM,Yatsenko AN,Jamrich M,Wensel TG,Lewis RA,Lupski JR, Hum Mol Genet. October 1, 2005; 14(19):1460-2083.
A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein., Wattenhofer M,Sahin-Calapoglu N,Andreasen D,Kalay E,Caylan R,Braillard B,Fowler-Jaeger N,Reymond A,Rossier BC,Karaguzel A,Antonarakis SE, Hum Genet. October 1, 2005; 117(6):1432-1203.
Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome., Sangrithi MN,Bernal JA,Madine M,Philpott A,Lee J,Lee J,Dunphy WG,Venkitaraman AR, Cell. June 17, 2005; 121(6):1097-4172.
AP-2alpha selectively regulates fragile X mental retardation-1 gene transcription during embryonic development., Lim JH,Booker AB,Luo T,Williams T,Furuta Y,Lagutin O,Oliver G,Sargent TD,Fallon JR, Hum Mol Genet. July 15, 2005; 14(14):1460-2083.
Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization., Ludwig M,Doroszewicz J,Seyberth HW,Bökenkamp A,Balluch B,Nuutinen M,Utsch B,Waldegger S, Hum Genet. July 1, 2005; 117(2-3):1432-1203.
WNK kinases and the control of blood pressure., Cope G,Golbang A,O'Shaughnessy KM, Pharmacol Ther. May 1, 2005; 106(2):0163-7258.
Mutation of single murine acetylcholine receptor subunits reveals differential contribution of P121 to acetylcholine binding and channel opening., Peter C,Korngreen A,Witzemann V, Pflugers Arch. June 1, 2005; 450(3):1432-2013.
A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome., Proks P,Girard C,Haider S,Gloyn AL,Hattersley AT,Sansom MS,Ashcroft FM, EMBO Rep. May 1, 2005; 6(5):1469-3178.
Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations., Splawski I,Timothy KW,Decher N,Kumar P,Sachse FB,Beggs AH,Sanguinetti MC,Keating MT, Proc Natl Acad Sci U S A. June 7, 2005; 102(23):1091-6490.
Mechanism of proliferation arrest of embryonic cells of Xenopus by diterpene compounds., Okouchi T,Abe T,Araki S,Arai S,Iida T,Wang LY,Kitanaka S,Miyata S, Bioorg Med Chem. June 1, 2005; 13(11):1464-3391.
A novel positive allosteric modulator of the alpha7 neuronal nicotinic acetylcholine receptor: in vitro and in vivo characterization., Hurst RS,Hajós M,Raggenbass M,Wall TM,Higdon NR,Lawson JA,Rutherford-Root KL,Berkenpas MB,Hoffmann WE,Piotrowski DW,Groppi VE,Allaman G,Ogier R,Bertrand S,Bertrand D,Arneric SP, J Neurosci. April 27, 2005; 25(17):1529-2401.
Application of polyacrylamide gel electrophoresis of fluorophore-labeled saccharides for analysis of hyaluronan and chondroitin sulfate in human and animal tissues and cell cultures., Karousou EG,Viola M,Genasetti A,Vigetti D,Luca GD,Karamanos NK,Passi A, Biomed Chromatogr. December 1, 2005; 19(10):0269-3879.
Severe neuropathy with leaky connexin32 hemichannels., Liang GS,de Miguel M,Gómez-Hernández JM,Glass JD,Scherer SS,Mintz M,Barrio LC,Fischbeck KH, Ann Neurol. May 1, 2005; 57(5):1531-8249.
Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways., Simons M,Gloy J,Ganner A,Bullerkotte A,Bashkurov M,Krönig C,Schermer B,Benzing T,Cabello OA,Jenny A,Mlodzik M,Polok B,Driever W,Obara T,Walz G, Nat Genet. May 1, 2005; 37(5):1546-1718.
Polymorphic ventricular tachycardia and KCNJ2 mutations., Chun TU,Epstein MR,Dick M,Andelfinger G,Ballester L,Vanoye CG,George AL,Benson DW, Heart Rhythm. July 1, 2004; 1(2):1547-5271.
Kinetic properties of nuclear transport conferred by the retinoblastoma (Rb) NLS., Hu W,Kemp BE,Jans DA, J Cell Biochem. July 1, 2005; 95(4):0730-2312.
Simple sequence in brain and nervous system specific proteins., Huntley MA,Mahmood S,Golding GB, Genome. April 1, 2005; 48(2):0831-2796.
AGR2, an androgen-inducible secretory protein overexpressed in prostate cancer., Zhang JS,Gong A,Cheville JC,Smith DI,Young CY, Genes Chromosomes Cancer. July 1, 2005; 43(3):1045-2257.
Effect of galantamine on the human alpha7 neuronal nicotinic acetylcholine receptor, the Torpedo nicotinic acetylcholine receptor and spontaneous cholinergic synaptic activity., Texidó L,Ros E,Martín-Satué M,López S,Aleu J,Marsal J,Solsona C, Br J Pharmacol. July 1, 2005; 145(5):1476-5381.
Epithelial-connective tissue cross-talk is essential for regeneration of intestinal epithelium., Ishizuya-Oka A, J Nippon Med Sch. February 1, 2005; 72(1):1345-4676.
Induction of ectopic olfactory structures and bone morphogenetic protein inhibition by Rossy, a group XII secreted phospholipase A2., Muñoz-Sanjuán I,Brivanlou AH, Mol Cell Biol. May 1, 2005; 25(9):1098-5549.
ZW10 links mitotic checkpoint signaling to the structural kinetochore., Kops GJ,Kim Y,Weaver BA,Mao Y,McLeod I,Yates JR,Tagaya M,Cleveland DW, J Cell Biol. April 11, 2005; 169(1):1540-8140.
The influence of extracellular acidosis on the effect of IKr blockers., Lin C,Ke X,Cvetanovic I,Ranade V,Somberg J, J Cardiovasc Pharmacol Ther. March 1, 2005; 10(1):1074-2484.
Atrial natriuretic peptide inhibits the actions of FSH and forskolin in meiotic maturation of pig oocytes via different signalling pathways., Zhang M,Tao Y,Zhou B,Xie H,Wang F,Lei L,Huo L,Sun Q,Xia G, J Mol Endocrinol. April 1, 2005; 34(2):1479-6813.
Emerin expression in early development of Xenopus laevis., Gareiss M,Eberhardt K,Krüger E,Kandert S,Böhm C,Zentgraf H,Müller CR,Dabauvalle MC, Eur J Cell Biol. March 1, 2005; 84(2-3):0171-9335.
Polyspecific cation transporters mediate luminal release of acetylcholine from bronchial epithelium., Lips KS,Volk C,Schmitt BM,Pfeil U,Arndt P,Miska D,Ermert L,Kummer W,Koepsell H, Am J Respir Cell Mol Biol. July 1, 2005; 33(1):1535-4989.
Anxiolytic effects of Maxipost (BMS-204352) and retigabine via activation of neuronal Kv7 channels., Korsgaard MP,Hartz BP,Brown WD,Ahring PK,Strøbaek D,Mirza NR, J Pharmacol Exp Ther. July 1, 2005; 314(1):1521-0103.
Maternal wnt11 activates the canonical wnt signaling pathway required for axis formation in Xenopus embryos., Tao Q,Tao Q,Yokota C,Puck H,Kofron M,Birsoy B,Yan D,Asashima M,Wylie CC,Lin X,Heasman J, Cell. March 25, 2005; 120(6):1097-4172.
Functional polymorphisms in the human beta4 subunit of nicotinic acetylcholine receptors., Liang Y,Salas R,Marubio L,Bercovich D,De Biasi M,Beaudet AL,Dani JA, Neurogenetics. February 1, 2005; 6(1):1364-6745.
XTbx1 is a transcriptional activator involved in head and pharyngeal arch development in Xenopus laevis., Ataliotis P,Ivins S,Mohun TJ,Scambler PJ, Dev Dyn. April 1, 2005; 232(4):1058-8388.
Possible involvement of organic anion transporter 2 on the interaction of theophylline with erythromycin in the human liver., Kobayashi Y,Sakai R,Ohshiro N,Ohbayashi M,Kohyama N,Yamamoto T, Drug Metab Dispos. May 1, 2005; 33(5):1521-009X.
Ethanol exposure affects gene expression in the embryonic organizer and reduces retinoic acid levels., Yelin R,Schyr RB,Kot H,Zins S,Frumkin A,Pillemer G,Fainsod A, Dev Biol. March 1, 2005; 279(1):1095-564X.
In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations., Schimanski LM,Drakesmith H,Merryweather-Clarke AT,Viprakasit V,Edwards JP,Sweetland E,Bastin JM,Cowley D,Chinthammitr Y,Robson KJ,Townsend AR, Blood. May 15, 2005; 105(10):1528-0020.
Rett syndrome: clinical review and genetic update., Weaving LS,Ellaway CJ,Gécz J,Christodoulou J, J Med Genet. January 1, 2005; 42(1):1468-6244.
Transgenic animal models of tauopathies., Lee VM,Kenyon TK,Trojanowski JQ, Biochim Biophys Acta. January 3, 2005; 1739(2-3):0006-3002.
The MinK-related peptides., McCrossan ZA,Abbott GW, Neuropharmacology. November 1, 2004; 47(6):1873-7064.
A structural basis for the acute effects of HIV protease inhibitors on GLUT4 intrinsic activity., Hertel J,Struthers H,Horj CB,Hruz PW, J Biol Chem. December 31, 2004; 279(53):1083-351X.
A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects., Dinour D,Chang MH,Satoh J,Smith BL,Smith BL,Angle N,Knecht A,Serban I,Holtzman EJ,Romero MF, J Biol Chem. December 10, 2004; 279(50):1083-351X.
The amino acid transporter asc-1 is not involved in cystinuria., Pineda M,Font M,Bassi MT,Manzoni M,Borsani G,Marigo V,Fernández E,Río RM,Purroy J,Zorzano A,Nunes V,Palacín M, Kidney Int. October 1, 2004; 66(4):1523-1755.
Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism., Splawski I,Timothy KW,Sharpe LM,Decher N,Kumar P,Bloise R,Napolitano C,Schwartz PJ,Joseph RM,Condouris K,Tager-Flusberg H,Priori SG,Sanguinetti MC,Keating MT, Cell. October 1, 2004; 119(1):1097-4172.
Familial hemiplegic migraine type 1 mutations K1336E, W1684R, and V1696I alter Cav2.1 Ca2+ channel gating: evidence for beta-subunit isoform-specific effects., Müllner C,Broos LA,van den Maagdenberg AM,Striessnig J, J Biol Chem. December 10, 2004; 279(50):1083-351X.
Regulation and function of small heat shock protein genes during amphibian development., Heikkila JJ, J Cell Biochem. November 1, 2004; 93(4):0730-2312.
Differential inhibition of nicotine- and acetylcholine-evoked currents through alpha4beta2 neuronal nicotinic receptors by tobacco cembranoids in Xenopus oocytes., Eaton MJ,Ospina CA,Rodríguez AD,Eterovi VA, Neurosci Lett. August 5, 2004; 366(1):1872-7972.
The Fanconi anemia gene product FANCF is a flexible adaptor protein., Léveillé F,Blom E,Medhurst AL,Bier P,Laghmani el H,Johnson M,Rooimans MA,Sobeck A,Waisfisz Q,Arwert F,Patel KJ,Hoatlin ME,Joenje H,de Winter JP, J Biol Chem. September 17, 2004; 279(38):1083-351X.
Evidence for stabilization of aquaporin-2 folding mutants by N-linked glycosylation in endoplasmic reticulum., Buck TM,Eledge J,Skach WR, Am J Physiol Cell Physiol. November 1, 2004; 287(5):1522-1563.
Uncoupling of photoreceptor peripherin/rds fusogenic activity from biosynthesis, subunit assembly, and targeting: a potential mechanism for pathogenic effects., Ritter LM,Boesze-Battaglia K,Tam BM,Moritz OL,Khattree N,Chen SC,Goldberg AF, J Biol Chem. September 17, 2004; 279(38):1083-351X.
Altered gating properties of functional Cx26 mutants associated with recessive non-syndromic hearing loss., Meşe G,Londin E,Mui R,Brink PR,White TW, Hum Genet. August 1, 2004; 115(3):1432-1203.
Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation., Abkevich V,Zharkikh A,Deffenbaugh AM,Frank D,Chen Y,Chen Y,Shattuck D,Skolnick MH,Gutin A,Tavtigian SV, J Med Genet. July 1, 2004; 41(7):1468-6244.
A critical role of Pax6 in alcohol-induced fetal microcephaly., Peng Y,Yang PH,Ng SS,Wong OG,Liu J,He ML,Kung HF,Lin MC, Neurobiol Dis. July 1, 2004; 16(2):1095-953X.
Characterization of embryonic cardiac pacemaker and atrioventricular conduction physiology in Xenopus laevis using noninvasive imaging., Bartlett HL,Scholz TD,Lamb FS,Weeks DL, Am J Physiol Heart Circ Physiol. June 1, 2004; 286(6):0363-6135.
Mouse Zic5 deficiency results in neural tube defects and hypoplasia of cephalic neural crest derivatives., Inoue T,Hatayama M,Tohmonda T,Itohara S,Aruga J,Mikoshiba K, Dev Biol. June 1, 2004; 270(1):1095-564X.
Reverse transcriptase-based DNA vaccines against drug-resistant HIV-1 tested in a mouse model., Isaguliants MG,Zuber B,Boberg A,Sjöstrand D,Belikov SV,Rollman E,Zuber AK,Rechinsky VO,Rytting AS,Källander CF,Hinkula J,Kochetkov SN,Liu M,Wahren B, Vaccine. April 16, 2004; 22(13-14):0264-410X.
Cystic fibrosis transmembrane conductance regulator differentially regulates human and mouse epithelial sodium channels in Xenopus oocytes., Yan W,Samaha FF,Ramkumar M,Kleyman TR,Rubenstein RC, J Biol Chem. May 28, 2004; 279(22):1083-351X.
Modification of Kv2.1 K+ currents by the silent Kv10 subunits., Vega-Saenz de Miera EC, Brain Res Mol Brain Res. April 7, 2004; 123(1-2):0169-328X.
Identification of a novel gene, FGFR1OP2, fused to FGFR1 in 8p11 myeloproliferative syndrome., Grand EK,Grand FH,Chase AJ,Ross FM,Corcoran MM,Oscier DG,Cross NC, Genes Chromosomes Cancer. May 1, 2004; 40(1):1045-2257.
Aberrant gating, but a normal expression pattern, underlies the recessive phenotype of the deafness mutant Connexin26M34T., Skerrett IM,Di WL,Kasperek EM,Kelsell DP,Nicholson BJ, FASEB J. May 1, 2004; 18(7):1530-6860.
Modulation of DMT1 activity by redox compounds., Marciani P,Trotti D,Hediger MA,Monticelli G, J Membr Biol. January 15, 2004; 197(2):1432-1424.
Disruption of TRPM6/TRPM7 complex formation by a mutation in the TRPM6 gene causes hypomagnesemia with secondary hypocalcemia., Chubanov V,Waldegger S,Mederos y Schnitzler M,Vitzthum H,Sassen MC,Seyberth HW,Konrad M,Gudermann T, Proc Natl Acad Sci U S A. March 2, 2004; 101(9):1091-6490.
WNK4 regulates apical and basolateral Cl- flux in extrarenal epithelia., Kahle KT,Gimenez I,Hassan H,Wilson FH,Wong RD,Forbush B,Aronson PS,Lifton RP, Proc Natl Acad Sci U S A. February 17, 2004; 101(7):1091-6490.
A single nucleotide polymorphism alters the activity of the renal Na+:Cl- cotransporter and reveals a role for transmembrane segment 4 in chloride and thiazide affinity., Moreno E,Tovar-Palacio C,de los Heros P,Guzmán B,Bobadilla NA,Vázquez N,Riccardi D,Poch E,Gamba G, J Biol Chem. April 16, 2004; 279(16):1083-351X.
Microtransplantation of functional receptors and channels from the Alzheimer's brain to frog oocytes., Miledi R,Dueñas Z,Martinez-Torres A,Kawas CH,Eusebi F, Proc Natl Acad Sci U S A. February 10, 2004; 101(6):1091-6490.
A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells., Rungroj N,Devonald MA,Cuthbert AW,Reimann F,Akkarapatumwong V,Yenchitsomanus PT,Bennett WM,Karet FE, J Biol Chem. April 2, 2004; 279(14):1083-351X.
Catalase and peroxiredoxin 5 protect Xenopus embryos against alcohol-induced ocular anomalies., Peng Y,Yang PH,Guo Y,Ng SS,Liu J,Fung PC,Tay D,Ge J,He ML,Kung HF,Lin MC, Invest Ophthalmol Vis Sci. January 1, 2004; 45(1):1552-5783.
Functional characterization of two naturally occurring mutations in the human sodium-phosphate cotransporter type IIa., Virkki LV,Forster IC,Hernando N,Biber J,Murer H, J Bone Miner Res. December 1, 2003; 18(12):0884-0431.
Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus., Kamsteeg EJ,Bichet DG,Konings IB,Nivet H,Lonergan M,Arthus MF,van Os CH,Deen PM, J Cell Biol. December 8, 2003; 163(5):1540-8140.
Bisphenol A induces feminization in Xenopus laevis tadpoles., Levy G,Lutz I,Krüger A,Kloas W, Environ Res. January 1, 2004; 94(1):0013-9351.
Pathogenesis of X-linked Charcot-Marie-Tooth disease: differential effects of two mutations in connexin 32., Abrams CK,Freidin M,Bukauskas F,Dobrenis K,Bargiello TA,Verselis VK,Bennett MV,Chen L,Sahenk Z, J Neurosci. November 19, 2003; 23(33):1529-2401.
A model of tripeptidyl-peptidase I (CLN2), a ubiquitous and highly conserved member of the sedolisin family of serine-carboxyl peptidases., Wlodawer A,Durell SR,Li M,Oyama H,Oda K,Dunn BM, BMC Struct Biol. November 11, 2003; 3:1472-6807.
Mutations linked to generalized epilepsy in humans reduce GABA(A) receptor current., Macdonald RL,Bianchi MT,Bianch MT,Feng H, Exp Neurol. November 1, 2003; 184 Suppl 1:0014-4886.
Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features., Roessler E,Du YZ,Mullor JL,Casas E,Allen WP,Gillessen-Kaesbach G,Roeder ER,Ming JE,Ruiz i Altaba A,Muenke M, Proc Natl Acad Sci U S A. November 11, 2003; 100(23):1091-6490.
A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos., Stancheva I,Collins AL,Van den Veyver IB,Zoghbi H,Meehan RR, Mol Cell. August 1, 2003; 12(2):1097-4164.
Single-channel SCAM identifies pore-lining residues in the first extracellular loop and first transmembrane domains of Cx46 hemichannels., Kronengold J,Trexler EB,Bukauskas FF,Bargiello TA,Verselis VK, J Gen Physiol. October 1, 2003; 122(4):1540-7748.
Transcriptional and translational regulation of the Leri-Weill and Turner syndrome homeobox gene SHOX., Blaschke RJ,Töpfer C,Marchini A,Steinbeisser H,Janssen JW,Rappold GA, J Biol Chem. November 28, 2003; 278(48):1083-351X.
Zebrafish Cx35: cloning and characterization of a gap junction gene highly expressed in the retina., McLachlan E,White TW,Ugonabo C,Olson C,Nagy JI,Valdimarsson G, J Neurosci Res. September 15, 2003; 73(6):1097-4547.
Molecular motions of the outer ring of charge of the sodium channel: do they couple to slow inactivation?, Xiong W,Li RA,Tian Y,Tomaselli GF, J Gen Physiol. September 1, 2003; 122(3):1540-7748.
The role of ZIC3 in vertebrate development., Herman GE,El-Hodiri HM, Cytogenet Genome Res. January 1, 2002; 99(1-4):1424-859X.
Validation of the hexose transporter of Plasmodium falciparum as a novel drug target., Joet T,Eckstein-Ludwig U,Morin C,Krishna S, Proc Natl Acad Sci U S A. June 24, 2003; 100(13):1091-6490.
Opsin activation as a cause of congenital night blindness., Jin S,Cornwall MC,Oprian DD, Nat Neurosci. July 1, 2003; 6(7):1546-1726.
Functional characterization of a glutamate/aspartate transporter from the mosquito Aedes aegypti., Umesh A,Cohen BN,Ross LS,Gill SS, J Exp Biol. July 1, 2003; 206(Pt 13):1477-9145.
Down-regulation of GABA-transporter function by hippocampal translation products: its possible role in epilepsy., Fueta Y,Vasilets LA,Takeda K,Kawamura M,Schwarz W, Neuroscience. January 1, 2003; 118(2):1873-7544.
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A functional null mutation of SCN1B in a patient with Dravet syndrome., Patino GA,Claes LR,Lopez-Santiago LF,Slat EA,Dondeti RS,Chen C,O'Malley HA,Gray CB,Miyazaki H,Nukina N,Oyama F,De Jonghe P,Isom LL, J Neurosci. August 26, 2009; 29(34):1529-2401.
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An essential role of the cysteine-rich domain of FZD4 in Norrin/Wnt signaling and familial exudative vitreoretinopathy., Zhang K,Harada Y,Wei X,Shukla D,Rajendran A,Tawansy K,Bedell M,Lim S,Shaw PX,He X,Yang Z, J Biol Chem. March 25, 2011; 286(12):1083-351X.
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Functional characterization of an AQP0 missense mutation, R33C, that causes dominant congenital lens cataract, reveals impaired cell-to-cell adhesion., Kumari SS,Gandhi J,Mustehsan MH,Eren S,Varadaraj K, Exp Eye Res. November 1, 2013; 116:0014-4835.
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A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome., Rienhoff HY,Yeo CY,Morissette R,Khrebtukova I,Melnick J,Luo S,Leng N,Kim YJ,Schroth G,Westwick J,Vogel H,McDonnell N,Hall JG,Whitman M, Am J Med Genet A. August 1, 2013; 161A(8):1552-4833.
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Isoquercitrin suppresses colon cancer cell growth in vitro by targeting the Wnt/β-catenin signaling pathway., Amado NG,Predes D,Fonseca BF,Cerqueira DM,Reis AH,Dudenhoeffer AC,Borges HL,Mendes FA,Abreu JG, J Biol Chem. December 19, 2014; 289(51):1083-351X.
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Xenopus mutant reveals necessity of rax for specifying the eye field which otherwise forms tissue with telencephalic and diencephalic character., Fish MB,Nakayama T,Fisher M,Hirsch N,Cox A,Reeder R,Carruthers S,Hall A,Stemple DL,Grainger RM, Dev Biol. November 15, 2014; 395(2):1095-564X.
The bile acid receptor TGR5 activates the TRPA1 channel to induce itch in mice., Lieu T,Jayaweera G,Zhao P,Poole DP,Jensen D,Grace M,McIntyre P,Bron R,Wilson YM,Krappitz M,Haerteis S,Korbmacher C,Steinhoff MS,Nassini R,Materazzi S,Geppetti P,Corvera CU,Bunnett NW, Gastroenterology. December 1, 2014; 147(6):1528-0012.
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A missense mutation accelerating the gating of the lysosomal Cl-/H+-exchanger ClC-7/Ostm1 causes osteopetrosis with gingival hamartomas in cattle., Sartelet A,Stauber T,Coppieters W,Ludwig CF,Fasquelle C,Druet T,Zhang Z,Zhang Z,Zhang Z,Ahariz N,Cambisano N,Jentsch TJ,Charlier C, Dis Model Mech. January 1, 2014; 7(1):1754-8411.
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The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter., Abplanalp J,Laczko E,Philp NJ,Neidhardt J,Zuercher J,Braun P,Schorderet DF,Munier FL,Verrey F,Berger W,Camargo SM,Kloeckener-Gruissem B, Hum Mol Genet. August 15, 2013; 22(16):1460-2083.
Distinct patterns of compartmentalization and proteolytic stability of PDE6C mutants linked to achromatopsia., Cheguru P,Majumder A,Artemyev NO, Mol Cell Neurosci. January 1, 2015; 64:1044-7431.
Long-range gap junctional signaling controls oncogene-mediated tumorigenesis in Xenopus laevis embryos., Chernet BT,Fields C,Levin M, Front Physiol. January 19, 2015; 5:1664-042X.
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The Rac1 regulator ELMO controls basal body migration and docking in multiciliated cells through interaction with Ezrin., Epting D,Slanchev K,Boehlke C,Hoff S,Loges NT,Yasunaga T,Indorf L,Nestel S,Lienkamp SS,Omran H,Kuehn EW,Ronneberger O,Walz G,Kramer-Zucker A, Development. January 1, 2015; 142(1):1477-9129.
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A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy., Muona M,Berkovic SF,Dibbens LM,Oliver KL,Maljevic S,Bayly MA,Joensuu T,Canafoglia L,Franceschetti S,Michelucci R,Markkinen S,Heron SE,Hildebrand MS,Andermann E,Andermann F,Gambardella A,Tinuper P,Licchetta L,Scheffer IE,Criscuolo C,Filla A,Ferlazzo E,Ahmad J,Ahmad A,Baykan B,Said E,Topcu M,Riguzzi P,King MD,Ozkara C,Andrade DM,Engelsen BA,Crespel A,Lindenau M,Lohmann E,Saletti V,Massano J,Privitera M,Espay AJ,Kauffmann B,Duchowny M,Møller RS,Straussberg R,Afawi Z,Ben-Zeev B,Samocha KE,Daly MJ,Petrou S,Lerche H,Palotie A,Lehesjoki AE, Nat Genet. January 1, 2015; 47(1):1546-1718.
TASK-1 and TASK-3 may form heterodimers in human atrial cardiomyocytes., Rinné S,Kiper AK,Schlichthörl G,Dittmann S,Netter MF,Limberg SH,Silbernagel N,Zuzarte M,Moosdorf R,Wulf H,Schulze-Bahr E,Rolfes C,Decher N, J Mol Cell Cardiol. April 1, 2015; 81:1095-8584.
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Using Xenopus tissue cultures for the study of myasthenia gravis pathogenesis., Yeo HL,Lim JY,Fukami Y,Yuki N,Lee CW,Lee CW,Lee CW, Dev Biol. December 15, 2015; 408(2):1095-564X.
More similar than you think: Frog metamorphosis as a model of human perinatal endocrinology., Buchholz DR, Dev Biol. December 15, 2015; 408(2):1095-564X.
Derricin and derricidin inhibit Wnt/β-catenin signaling and suppress colon cancer cell growth in vitro., Fonseca BF,Predes D,Cerqueira DM,Reis AH,Amado NG,Cayres MC,Kuster RM,Oliveira FL,Mendes FA,Abreu JG, PLoS One. March 16, 2015; 10(3):1932-6203.
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Osmostress-induced apoptosis in Xenopus oocytes: role of stress protein kinases, calpains and Smac/DIABLO., Ben Messaoud N,Yue J,Valent D,Katzarova I,López JM, PLoS One. January 1, 2015; 10(4):1932-6203.
ATP4a is required for development and function of the Xenopus mucociliary epidermis - a potential model to study proton pump inhibitor-associated pneumonia., Walentek P,Beyer T,Hagenlocher C,Müller C,Feistel K,Schweickert A,Harland RM,Blum M, Dev Biol. December 15, 2015; 408(2):1095-564X.
Xenopus pax6 mutants affect eye development and other organ systems, and have phenotypic similarities to human aniridia patients., Nakayama T,Fisher M,Fisher M,Nakajima K,Odeleye AO,Zimmerman KB,Zimmerman KB,Fish MB,Yaoita Y,Chojnowski JL,Lauderdale JD,Netland PA,Grainger RM, Dev Biol. December 15, 2015; 408(2):1095-564X.
Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model., Pfirrmann T,Emmerich D,Ruokonen P,Quandt D,Buchen R,Fischer-Zirnsak B,Hecht J,Krawitz P,Meyer P,Klopocki E,Stricker S,Lausch E,Seliger B,Hollemann T,Reinhard T,Auw-Haedrich C,Zabel B,Hoffmann K,Villavicencio-Lorini P, Hum Mol Genet. June 1, 2015; 24(11):1460-2083.
An oncologist׳s friend: How Xenopus contributes to cancer research., Hardwick LJ,Philpott A, Dev Biol. December 15, 2015; 408(2):1095-564X.
Valproate-induced neurodevelopmental deficits in Xenopus laevis tadpoles., James EJ,Gu J,Ramirez-Vizcarrondo CM,Hasan M,Truszkowski TL,Tan Y,Oupravanh PM,Khakhalin AS,Aizenman CD, J Neurosci. February 18, 2015; 35(7):1529-2401.
A role for BMP-induced homeobox gene MIXL1 in acute myelogenous leukemia and identification of type I BMP receptor as a potential target for therapy., Raymond A,Liu B,Liang H,Wei C,Guindani M,Lu Y,Liang S,St John LS,Molldrem J,Nagarajan L, Oncotarget. December 30, 2014; 5(24):1949-2553.
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Stereoselective inhibition of serotonin transporters by antimalarial compounds., Beckman ML,Pramod AB,Perley D,Henry LK, Neurochem Int. July 1, 2014; 73:1872-9754.
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Remyelination by Resident Oligodendrocyte Precursor Cells in a Xenopus laevis Inducible Model of Demyelination., Sekizar S,Mannioui A,Azoyan L,Colin C,Thomas JL,Du Pasquier D,Mallat M,Zalc B, Dev Neurosci. January 1, 2015; 37(3):1421-9859.
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Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia., Schlingmann KP,Ruminska J,Kaufmann M,Dursun I,Patti M,Kranz B,Pronicka E,Ciara E,Akcay T,Bulus D,Cornelissen EA,Gawlik A,Sikora P,Patzer L,Galiano M,Boyadzhiev V,Dumic M,Vivante A,Kleta R,Dekel B,Levtchenko E,Bindels RJ,Rust S,Forster IC,Hernando N,Jones G,Wagner CA,Konrad M, J Am Soc Nephrol. February 1, 2016; 27(2):1533-3450.
Structure-activity analysis of a CFTR channel potentiator: Distinct molecular parts underlie dual gating effects., Csanády L,Töröcsik B, J Gen Physiol. October 1, 2014; 144(4):1540-7748.
Regulation of the Rev1-pol ζ complex during bypass of a DNA interstrand cross-link., Budzowska M,Graham TG,Sobeck A,Waga S,Walter JC, EMBO J. July 14, 2015; 34(14):0261-4189.
High incidence of functional ion-channel abnormalities in a consecutive Long QT cohort with novel missense genetic variants of unknown significance., Steffensen AB,Refaat MM,David JP,Mujezinovic A,Calloe K,Wojciak J,Nussbaum RL,Scheinman MM,Schmitt N, Sci Rep. January 12, 2015; 5:2045-2322.
Three charged amino acids in extracellular loop 1 are involved in maintaining the outer pore architecture of CFTR., Cui G,Rahman KS,Infield DT,Kuang C,Prince CZ,McCarty NA, J Gen Physiol. August 1, 2014; 144(2):1540-7748.
Disrupted coupling of gating charge displacement to Na+ current activation for DIIS4 mutations in hypokalemic periodic paralysis., Mi W,Rybalchenko V,Cannon SC, J Gen Physiol. August 1, 2014; 144(2):1540-7748.
The involvement of PCP proteins in radial cell intercalations during Xenopus embryonic development., Ossipova O,Chu CW,Fillatre J,Brott BK,Itoh K,Sokol SY, Dev Biol. December 15, 2015; 408(2):1095-564X.
BMP signalling controls the construction of vertebrate mucociliary epithelia., Cibois M,Luxardi G,Chevalier B,Thomé V,Mercey O,Zaragosi LE,Barbry P,Pasini A,Marcet B,Kodjabachian L, Development. July 1, 2015; 142(13):1477-9129.
TALEN-mediated apc mutation in Xenopus tropicalis phenocopies familial adenomatous polyposis., Van Nieuwenhuysen T,Naert T,Tran HT,Van Imschoot G,Geurs S,Sanders E,Creytens D,Van Roy F,Vleminckx K,Vleminckx K, Oncoscience. May 19, 2015; 2(5):2331-4737.
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PnPP-19, a Synthetic and Nontoxic Peptide Designed from a Phoneutria nigriventer Toxin, Potentiates Erectile Function via NO/cGMP., Silva CN,Nunes KP,Torres FS,Cassoli JS,Santos DM,Almeida Fde M,Matavel A,Cruz JS,Santos-Miranda A,Nunes AD,Castro CH,Machado de Ávila RA,Chávez-Olórtegui C,Láuar SS,Felicori L,Resende JM,Camargos ER,Borges MH,Cordeiro MN,Peigneur S,Tytgat J,de Lima ME, J Urol. November 1, 2015; 194(5):1527-3792.
Molecular asymmetry in the 8-cell stage Xenopus tropicalis embryo described by single blastomere transcript sequencing., De Domenico E,Owens ND,Grant IM,Gomes-Faria R,Gilchrist MJ, Dev Biol. December 15, 2015; 408(2):1095-564X.
Developmental role of plk4 in Xenopus laevis and Danio rerio: implications for Seckel Syndrome., Rapchak CE,Patel N,Hudson J,Crawford M, Biochem Cell Biol. August 1, 2015; 93(4):1208-6002.
The role of folate metabolism in orofacial development and clefting., Wahl SE,Kennedy AE,Wyatt BH,Moore AD,Pridgen DE,Cherry AM,Mavila CB,Dickinson AJ, Dev Biol. September 1, 2015; 405(1):1095-564X.
The UNC-45 myosin chaperone: from worms to flies to vertebrates., Lee CF,Lee CF,Lee CF,Melkani GC,Bernstein SI, Int Rev Cell Mol Biol. January 1, 2014; 313:1937-6448.
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RNA-Seq and microarray analysis of the Xenopus inner ear transcriptome discloses orthologous OMIM(®) genes for hereditary disorders of hearing and balance., Ramírez-Gordillo D,Powers TR,van Velkinburgh JC,Trujillo-Provencio C,Schilkey F,Serrano EE, BMC Res Notes. November 18, 2015; 8:1756-0500.
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Xenopus as a model system for studying pancreatic development and diabetes., Kofent J,Spagnoli FM, Semin Cell Dev Biol. March 1, 2016; 51:1096-3634.
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Identification of p62/SQSTM1 as a component of non-canonical Wnt VANGL2-JNK signalling in breast cancer., Puvirajesinghe TM,Bertucci F,Jain A,Scerbo P,Belotti E,Audebert S,Sebbagh M,Lopez M,Brech A,Finetti P,Charafe-Jauffret E,Chaffanet M,Castellano R,Restouin A,Marchetto S,Collette Y,Gonçalvès A,Macara I,Birnbaum D,Kodjabachian L,Johansen T,Borg JP, Nat Commun. January 12, 2016; 7:2041-1723.
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A novel mutant Na + /HCO3 - cotransporter NBCe1 in a case of compound-heterozygous inheritance of proximal renal tubular acidosis., Myers EJ,Yuan L,Felmlee MA,Lin YY,Jiang Y,Pei Y,Wang O,Li M,Xing XP,Marshall A,Xia WB,Parker MD, J Physiol. November 1, 2016; 594(21):0022-3751.
A Retinoic Acid-Hedgehog Cascade Coordinates Mesoderm-Inducing Signals and Endoderm Competence during Lung Specification., Rankin SA,Rankin SA,Han L,McCracken KW,Kenny AP,Anglin CT,Grigg EA,Crawford CM,Wells JM,Shannon JM,Zorn AM, Cell Rep. June 28, 2016; 16(1):2211-1247.
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Functional and molecular identification of a TASK-1 potassium channel regulating chloride secretion through CFTR channels in the shark rectal gland: implications for cystic fibrosis., Telles CJ,Decker SE,Motley WW,Peters AW,Mehr AP,Frizzell RA,Forrest JN, Am J Physiol Cell Physiol. December 1, 2016; 311(6):1522-1563.
Functional Recovery of AQP2 Recessive Mutations Through Hetero-Oligomerization with Wild-Type Counterpart., El Tarazi A,Lussier Y,Da Cal S,Bissonnette P,Bichet DG, Sci Rep. September 19, 2016; 6:2045-2322.
Determining the optimal developmental stages of Xenopus laevis for initiating exposures to chemicals for sensitively detecting their feminizing effects on gonadal differentiation., Li YY,Chen J,Qin ZF, Aquat Toxicol. October 1, 2016; 179:1879-1514.
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The Enigma of the Dichotomic Pressure Response of GluN1-4a/b Splice Variants of NMDA Receptor: Experimental and Statistical Analyses., Bliznyuk A,Gradwohl G,Hollmann M,Grossman Y, Front Mol Neurosci. February 15, 2016; 9:1662-5099.
Mutation Linked to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Reduces Low-Sensitivity α4β2, and Increases α5α4β2, Nicotinic Receptor Surface Expression., Nichols WA,Henderson BJ,Marotta CB,Yu CY,Richards C,Dougherty DA,Lester HA,Cohen BN, PLoS One. January 1, 2016; 11(6):1932-6203.
A Splice Variant of Bardet-Biedl Syndrome 5 (BBS5) Protein that Is Selectively Expressed in Retina., Bolch SN,Dugger DR,Chong T,McDowell JH,Smith WC, PLoS One. January 1, 2016; 11(2):1932-6203.
CRISPR/Cas9 mediated knockout of rb1 and rbl1 leads to rapid and penetrant retinoblastoma development in Xenopus tropicalis., Naert T,Colpaert R,Van Nieuwenhuysen T,Dimitrakopoulou D,Leoen J,Haustraete J,Boel A,Steyaert W,Lepez T,Deforce D,Willaert A,Creytens D,Vleminckx K,Vleminckx K, Sci Rep. October 14, 2016; 6:2045-2322.
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Novel KCNQ3 Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures., Maljevic S,Vejzovic S,Bernhard MK,Bertsche A,Weise S,Döcker M,Lerche H,Lemke JR,Merkenschlager A,Syrbe S, Mol Syndromol. September 1, 2016; 7(4):1661-8769.
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From cytoskeletal dynamics to organ asymmetry: a nonlinear, regulative pathway underlies left-right patterning., McDowell G,Rajadurai S,Levin M, Philos Trans R Soc Lond B Biol Sci. December 19, 2016; 371(1710):1471-2970.
Functional assessment of SLC4A11, an integral membrane protein mutated in corneal dystrophies., Loganathan SK,Schneider HP,Morgan PE,Deitmer JW,Casey JR, Am J Physiol Cell Physiol. November 1, 2016; 311(5):1522-1563.
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Leftward Flow Determines Laterality in Conjoined Twins., Tisler M,Thumberger T,Schneider I,Schweickert A,Blum M, Curr Biol. February 20, 2017; 27(4):0960-9822.
Modeling human craniofacial disorders in Xenopus., Dubey A,Saint-Jeannet JP, Curr Pathobiol Rep. March 1, 2017; 5(1):2167-485X.
A Mutation in the G-Protein Gene GNB2 Causes Familial Sinus Node and Atrioventricular Conduction Dysfunction., Stallmeyer B,Kuß J,Kotthoff S,Zumhagen S,Vowinkel K,Rinné S,Matschke LA,Friedrich C,Schulze-Bahr E,Rust S,Seebohm G,Decher N,Schulze-Bahr E, Circ Res. May 12, 2017; 120(10):1524-4571.
Analysis of Craniocardiac Malformations in Xenopus using Optical Coherence Tomography., Deniz E,Jonas S,Hooper M,N Griffin J,Choma MA,Khokha MK, Sci Rep. February 14, 2017; 7:2045-2322.
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The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal development., Hoff S,Epting D,Falk N,Schroda S,Braun DA,Halbritter J,Hildebrandt F,Kramer-Zucker A,Bergmann C,Walz G,Lienkamp SS, J Biol Chem. September 28, 2018; 293(39):1083-351X.
Overexpression of TPX2 is associated with progression and prognosis of prostate cancer., Zou J,Huang RY,Jiang FN,Chen DX,Wang C,Wang C,Wang C,Han ZD,Liang YX,Zhong WD, Oncol Lett. September 1, 2018; 16(3):1792-1074.
Id genes are essential for early heart formation., Cunningham TJ,Yu MS,McKeithan WL,Spiering S,Carrette F,Huang CT,Bushway PJ,Tierney M,Albini S,Giacca M,Mano M,Puri PL,Sacco A,Ruiz-Lozano P,Riou JF,Umbhauer M,Duester G,Mercola M,Colas AR, Genes Dev. July 1, 2017; 31(13):1549-5477.
CRISPR/Cas9 F0 Screening of Congenital Heart Disease Genes in Xenopus tropicalis., Deniz E,Mis EK,Lane M,Khokha MK, Methods Mol Biol. January 1, 2018; 1865:1940-6029.
Cancer Models in Xenopus tropicalis by CRISPR/Cas9 Mediated Knockout of Tumor Suppressors., Naert T,Vleminckx K,Vleminckx K, Methods Mol Biol. January 1, 2018; 1865:1940-6029.
Lack of response to quinidine in KCNT1-related neonatal epilepsy., Numis AL,Nair U,Datta AN,Sands TT,Oldham MS,Patel A,Li M,Gazina E,Petrou S,Cilio MR, Epilepsia. October 1, 2018; 59(10):1528-1167.
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome., Braun DA,Lovric S,Schapiro D,Schneider R,Marquez J,Asif M,Hussain MS,Daga A,Widmeier E,Rao J,Ashraf S,Tan W,Lusk CP,Kolb A,Jobst-Schwan T,Schmidt JM,Hoogstraten CA,Eddy K,Kitzler TM,Shril S,Moawia A,Schrage K,Khayyat AIA,Lawson JA,Gee HY,Warejko JK,Hermle T,Majmundar AJ,Hugo H,Budde B,Motameny S,Altmüller J,Noegel AA,Fathy HM,Gale DP,Waseem SS,Khan A,Kerecuk L,Hashmi S,Mohebbi N,Ettenger R,Serdaroğlu E,Alhasan KA,Hashem M,Goncalves S,Ariceta G,Ubetagoyena M,Antonin W,Baig SM,Alkuraya FS,Shen Q,Xu H,Antignac C,Lifton RP,Mane S,Nürnberg P,Khokha MK,Hildebrandt F, J Clin Invest. October 1, 2018; 128(10):1558-8238.
CRISPR/Cas9 disease models in zebrafish and Xenopus: The genetic renaissance of fish and frogs., Naert T,Vleminckx K,Vleminckx K, Drug Discov Today Technol. August 1, 2018; 28:1740-6749.
A review of interventions against fetal alcohol spectrum disorder targeting oxidative stress., Zhang Y,Zhang Y,Wang H,Li Y,Peng Y, Int J Dev Neurosci. December 1, 2018; 71:0736-5748.
WDR5 Stabilizes Actin Architecture to Promote Multiciliated Cell Formation., Kulkarni SS,Griffin JN,Date PP,Liem KF,Khokha MK, Dev Cell. September 10, 2018; 46(5):1878-1551.
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Inactivation of KCNQ1 potassium channels reveals dynamic coupling between voltage sensing and pore opening., Hou P,Eldstrom J,Shi J,Zhong L,McFarland K,Gao Y,Fedida D,Cui J, Nat Commun. November 23, 2017; 8(1):2041-1723.
Par3 interacts with Prickle3 to generate apical PCP complexes in the vertebrate neural plate., Chuykin I,Ossipova O,Sokol SY, Elife. September 26, 2018; 7:2050-084X.
TPX2 level correlates with cholangiocarcinoma cell proliferation, apoptosis, and EMT., Zou Z,Zheng B,Li J,Lv X,Zhang H,Yu F,Kong L,Li Y,Yu M,Fang L,Liang B, Biomed Pharmacother. November 1, 2018; 107:0753-3322.
Paracetamol-induced liver injury modelled in Xenopus laevis embryos., Saide K,Sherwood V,Wheeler GN, Toxicol Lett. March 1, 2019; 302:1879-3169.
The evolutionary conserved FOXJ1 target gene Fam183b is essential for motile cilia in Xenopus but dispensable for ciliary function in mice., Beckers A,Ott T,Schuster-Gossler K,Boldt K,Alten L,Ueffing M,Blum M,Gossler A, Sci Rep. October 2, 2018; 8(1):2045-2322.
Functional analysis of a triplet deletion in the gene encoding the sodium glucose transporter 3, a potential risk factor for ADHD., Schäfer N,Friedrich M,Jørgensen ME,Kollert S,Koepsell H,Wischmeyer E,Lesch KP,Geiger D,Döring F, PLoS One. October 4, 2018; 13(10):1932-6203.
ITGBL1 modulates integrin activity to promote cartilage formation and protect against arthritis., Song EK,Jeon J,Jang DG,Kim HE,Sim HJ,Kwon KY,Medina-Ruiz S,Jang HJ,Lee AR,Rho JG,Lee HS,Lee HS,Kim SJ,Park CY,Myung K,Kim W,Kwon T,Yang S,Park TJ, Sci Transl Med. October 10, 2018; 10(462):1946-6242.
5-Diphosphoinositol pentakisphosphate (5-IP7) regulates phosphate release from acidocalcisomes and yeast vacuoles., Potapenko E,Cordeiro CD,Huang G,Storey M,Wittwer C,Dutta AK,Jessen HJ,Starai VJ,Docampo R, J Biol Chem. December 7, 2018; 293(49):1083-351X.
A novel GABAergic dysfunction in human Dravet syndrome., Ruffolo G,Cifelli P,Roseti C,Thom M,van Vliet EA,Limatola C,Aronica E,Palma E, Epilepsia. November 1, 2018; 59(11):1528-1167.
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Evolutionarily conserved Tbx5-Wnt2/2b pathway orchestrates cardiopulmonary development., Steimle JD,Rankin SA,Rankin SA,Slagle CE,Bekeny J,Rydeen AB,Chan SS,Kweon J,Yang XH,Ikegami K,Nadadur RD,Rowton M,Hoffmann AD,Lazarevic S,Thomas W,Boyle Anderson EAT,Horb ME,Luna-Zurita L,Ho RK,Kyba M,Jensen B,Zorn AM,Conlon FL,Moskowitz IP, Proc Natl Acad Sci U S A. November 6, 2018; 115(45):1091-6490.
De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy., Sega AG,Mis EK,Lindstrom K,Mercimek-Andrews S,Ji W,Cho MT,Juusola J,Konstantino M,Jeffries L,Khokha MK,Lakhani SA, J Med Genet. February 1, 2019; 56(2):1468-6244.
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A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms., Sampedro Castañeda M,Zanoteli E,Scalco RS,Scaramuzzi V,Marques Caldas V,Conti Reed U,da Silva AMS,O'Callaghan B,Phadke R,Bugiardini E,Sud R,McCall S,Hanna MG,Poulsen H,Männikkö R,Matthews E, Brain. December 1, 2018; 141(12):1460-2156.
DNp73-induced degradation of tyrosinase links depigmentation with EMT-driven melanoma progression., Fürst K,Steder M,Logotheti S,Angerilli A,Spitschak A,Marquardt S,Schumacher T,Engelmann D,Herchenröder O,Rupp RAW,Pützer BM, Cancer Lett. February 1, 2019; 442:0304-3835.
A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma., Youssefian L,Vahidnezhad H,Saeidian AH,Mahmoudi H,Karamzadeh R,Kariminejad A,Huang J,Li L,Jannace TF,Fortina P,Zeinali S,White TW,Uitto J, Hum Mutat. February 1, 2019; 40(2):1098-1004.
Acetaldehyde inhibits retinoic acid biosynthesis to mediate alcohol teratogenicity., Shabtai Y,Bendelac L,Jubran H,Hirschberg J,Fainsod A, Sci Rep. January 10, 2018; 8(1):2045-2322.
The low binding affinity of D-serine at the ionotropic glutamate receptor GluD2 can be attributed to the hinge region., Tapken D,Steffensen TB,Leth R,Kristensen LB,Gerbola A,Gajhede M,Jørgensen FS,Olsen L,Kastrup JS, Sci Rep. April 7, 2017; 7:2045-2322.
Extended Cleavage Specificity of Human Neutrophil Elastase, Human Proteinase 3, and Their Distant Ortholog Clawed Frog PR3-Three Elastases With Similar Primary but Different Extended Specificities and Stability., Fu Z,Thorpe M,Akula S,Chahal G,Hellman LT, Front Immunol. September 12, 2018; 9:1664-3224.
Targeting TPX2 suppresses proliferation and promotes apoptosis via repression of the PI3k/AKT/P21 signaling pathway and activation of p53 pathway in breast cancer., Chen M,Zhang H,Zhang G,Zhong A,Ma Q,Kai J,Tong Y,Xie S,Wang Y,Zheng H,Guo L,Lu R, Biochem Biophys Res Commun. December 9, 2018; 507(1-4):1090-2104.
Mutations in Kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development., Konjikusic MJ,Yeetong P,Boswell CW,Lee C,Lee C,Lee C,Roberson EC,Ittiwut R,Suphapeetiporn K,Ciruna B,Gurnett CA,Wallingford JB,Shotelersuk V,Gray RS, PLoS Genet. November 6, 2018; 14(11):1553-7404.
A Xenopus tadpole alternative model to study innate-like T cell-mediated anti-mycobacterial immunity., Hyoe RK,Robert J, Dev Comp Immunol. March 1, 2019; 92:1879-0089.
Hydrophobic pore gates regulate ion permeation in polycystic kidney disease 2 and 2L1 channels., Zheng W,Yang X,Hu R,Cai R,Hofmann L,Wang Z,Hu Q,Liu X,Bulkley D,Yu Y,Tang J,Flockerzi V,Cao Y,Cao Y,Cao E,Chen XZ, Nat Commun. June 13, 2018; 9(1):2041-1723.
HCN2 Rescues brain defects by enforcing endogenous voltage pre-patterns., Pai VP,Pietak A,Willocq V,Ye B,Shi NQ,Levin M, Nat Commun. March 8, 2018; 9(1):2041-1723.
Candidate Heterotaxy Gene FGFR4 Is Essential for Patterning of the Left-Right Organizer in Xenopus., Sempou E,Lakhani OA,Amalraj S,Khokha MK, Front Physiol. January 1, 2018; 9:1664-042X.
A liquid-like organelle at the root of motile ciliopathy., Huizar RL,Lee C,Lee C,Lee C,Boulgakov AA,Horani A,Tu F,Marcotte EM,Brody SL,Wallingford JB, Elife. December 18, 2018; 7:2050-084X.
Leukemia inhibitory factor signaling in Xenopus embryo: Insights from gain of function analysis and dominant negative mutant of the receptor., Jalvy S,Veschambre P,Fédou S,Rezvani HR,Thézé N,Thiébaud P, Dev Biol. March 15, 2019; 447(2):1095-564X.
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De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism., Zawerton A,Yao B,Yeager JP,Pippucci T,Haseeb A,Smith JD,Wischmann L,Kühl SJ,Dean JCS,Pilz DT,Holder SE,McNeill A,Graziano C,Lefebvre V, Am J Hum Genet. February 7, 2019; 104(2):1537-6605.
CFTR supports cell death through ROS-dependent activation of TMEM16F (anoctamin 6)., Simões F,Ousingsawat J,Wanitchakool P,Fonseca A,Cabrita I,Benedetto R,Schreiber R,Kunzelmann K, Pflugers Arch. February 1, 2018; 470(2):1432-2013.
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The clinical significance and prognostic value of Xenopus kinesin-like protein 2 expressions in human tumors: A systematic review and meta-analysis., Yang W,Wan H,Shan R,Wen W,Li J,Luo D,Wan RH, J Cell Physiol. September 1, 2019; 234(9):1097-4652.
Xenopus tropicalis: Joining the Armada in the Fight Against Blood Cancer., Dimitrakopoulou D,Tulkens D,Van Vlierberghe P,Vleminckx K,Vleminckx K, Front Physiol. January 1, 2019; 10:1664-042X.
Myasthenic congenital myopathy from recessive mutations at a single residue in NaV1.4., Elia N,Palmio J,Castañeda MS,Shieh PB,Quinonez M,Suominen T,Hanna MG,Männikkö R,Udd B,Cannon SC, Neurology. March 26, 2019; 92(13):1526-632X.
Electrophysiological Changes During Early Steps of Retinitis Pigmentosa., Bocchero U,Tam BM,Chiu CN,Torre V,Moritz OL, Invest Ophthalmol Vis Sci. March 1, 2019; 60(4):1552-5783.
FoxN3 is necessary for the development of the interatrial septum, the ventricular trabeculae and the muscles at the head/trunk interface in the African clawed frog, Xenopus laevis (Lissamphibia: Anura: Pipidae)., Naumann B,Schmidt J,Olsson L, Dev Dyn. May 1, 2019; 248(5):1058-8388.
The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1., Ott T,Kaufmann L,Granzow M,Hinderhofer K,Bartram CR,Theiß S,Seitz A,Paramasivam N,Schulz A,Moog U,Blum M,Evers CM, Front Physiol. January 1, 2019; 10:1664-042X.
Structural basis of HEAT-kleisin interactions in the human condensin I subcomplex., Hara K,Kinoshita K,Migita T,Murakami K,Shimizu K,Takeuchi K,Hirano T,Hashimoto H, EMBO Rep. May 1, 2019; 20(5):1469-3178.
Prdm12 Directs Nociceptive Sensory Neuron Development by Regulating the Expression of the NGF Receptor TrkA., Desiderio S,Vermeiren S,Van Campenhout C,Kricha S,Malki E,Richts S,Fletcher EV,Vanwelden T,Schmidt BZ,Henningfeld KA,Pieler T,Woods CG,Nagy V,Verfaillie C,Bellefroid EJ, Cell Rep. March 26, 2019; 26(13):2211-1247.
A de novo Ser111Thr variant in aquaporin-4 in a patient with intellectual disability, transient signs of brain ischemia, transient cardiac hypertrophy, and progressive gait disturbance., Berland S,Toft-Bertelsen TL,Aukrust I,Byska J,Vaudel M,Bindoff LA,MacAulay N,Houge G, Cold Spring Harb Mol Case Stud. February 1, 2018; 4(1):2373-2873.
Latrophilin2 is involved in neural crest cell migration and placode patterning in Xenopus laevis., Yokote N,Suzuki-Kosaka MY,Michiue T,Hara T,Tanegashima K, Int J Dev Biol. January 1, 2019; 63(1-2):1696-3547.
Desmoplakin is required for epidermal integrity and morphogenesis in the Xenopus laevis embryo., Bharathan NK,Dickinson AJG, Dev Biol. June 15, 2019; 450(2):1095-564X.
ANK2 functionally interacts with KCNH2 aggravating long QT syndrome in a double mutation carrier., Gessner G,Runge S,Koenen M,Heinemann SH,Koenen M,Haas J,Meder B,Thomas D,Katus HA,Schweizer PA, Biochem Biophys Res Commun. May 14, 2019; 512(4):1090-2104.
N-glycosylation-dependent regulation of hK2P17.1 currents., Wiedmann F,Schlund D,Voigt N,Ratte A,Kraft M,Katus HA,Schmidt C, Mol Biol Cell. June 1, 2019; 30(12):1939-4586.
Modeling congenital kidney diseases in Xenopus laevis., Blackburn ATM,Miller RK, Dis Model Mech. April 9, 2019; 12(4):1754-8411.
Loss of function of Kmt2d, a gene mutated in Kabuki syndrome, affects heart development in Xenopus laevis., Schwenty-Lara J,Nürnberger A,Borchers A, Dev Dyn. June 1, 2019; 248(6):1058-8388.
ECT2 associated to PRICKLE1 are poor-prognosis markers in triple-negative breast cancer., Daulat AM,Finetti P,Revinski D,Silveira Wagner M,Camoin L,Audebert S,Birnbaum D,Kodjabachian L,Borg JP,Bertucci F, Br J Cancer. April 1, 2019; 120(9):0007-0920.
Urokinase-type plasminogen activator (uPA) is not essential for epithelial sodium channel (ENaC)-mediated sodium retention in experimental nephrotic syndrome., Bohnert BN,Daiminger S,Wörn M,Sure F,Staudner T,Ilyaskin AV,Batbouta F,Janessa A,Schneider JC,Essigke D,Kanse S,Haerteis S,Korbmacher C,Artunc F, Acta Physiol (Oxf). December 1, 2019; 227(4):1748-1716.
Visualizing flow in an intact CSF network using optical coherence tomography: implications for human congenital hydrocephalus., Date P,Ackermann P,Furey C,Fink IB,Jonas S,Khokha MK,Kahle KT,Deniz E, Sci Rep. April 17, 2019; 9(1):2045-2322.
Activation of the calcium sensing receptor attenuates TRPV6-dependent intestinal calcium absorption., Lee JJ,Lee JJ,Liu X,O'Neill D,Beggs MR,Weissgerber P,Flockerzi V,Chen XZ,Dimke H,Alexander RT, JCI Insight. April 23, 2019; 5:2379-3708.
A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway., Popov IK,Hiatt SM,Whalen S,Keren B,Ruivenkamp C,van Haeringen A,Chen MJ,Cooper GM,Korf BR,Chang C, Front Physiol. January 1, 2019; 10:1664-042X.
Wolf-Hirschhorn Syndrome-Associated Genes Are Enriched in Motile Neural Crest Cells and Affect Craniofacial Development in Xenopus laevis., Mills A,Bearce E,Cella R,Kim SW,Selig M,Lee S,Lowery LA, Front Physiol. January 1, 2019; 10:1664-042X.
Aβ1-42 triggers the generation of a retrograde signaling complex from sentinel mRNAs in axons., Walker CA,Randolph LK,Matute C,Alberdi E,Baleriola J,Hengst U, EMBO Rep. July 1, 2018; 19(7):1469-3178.
Antinociceptive effects of new pyrazoles compounds mediated by the ASIC-1α channel, TRPV-1 and μMOR receptors., Florentino IF,Silva DPB,Cardoso CS,Menegatti R,de Carvalho FS,Lião LM,Pinto PM,Peigneur S,Costa EA,Tytgat J, Biomed Pharmacother. July 1, 2019; 115:0753-3322.
ANP-stimulated Na+ secretion in the collecting duct prevents Na+ retention in the renal adaptation to acid load., Cheval L,Bakouh N,Walter C,Tembely D,Morla L,Escher G,Vogt B,Crambert G,Planelles G,Doucet A, Am J Physiol Renal Physiol. August 1, 2019; 317(2):1522-1466.
Injection of mRNA isolated from trophozoites of Giardia intestinalis induces expression of three types of chloride currents in Xenopus laevis oocytes., Ponce A,Ogazon Del Toro A,Jimenez L,Eligio-Garcia L,Jimenez-Cardoso E, Physiol Rep. June 1, 2019; 7(11):2051-817X.
Rare Diseases of Neurodevelopment: Maintain the Mystery or Use a Dazzling Tool for Investigation? The Case of Rett Syndrome., Ruffolo G,Cifelli P,Miranda-Lourenço C,De Felice E,Limatola C,Sebastião AM,Diógenes MJ,Aronica E,Palma E, Neuroscience. July 15, 2020; 439:1873-7544.
Dishevelled Paralogs in Vertebrate Development: Redundant or Distinct?, Gentzel M,Schambony A, Front Cell Dev Biol. May 26, 2017; 5:2296-634X.
Rabies virus modifies host behaviour through a snake-toxin like region of its glycoprotein that inhibits neurotransmitter receptors in the CNS., Hueffer K,Khatri S,Rideout S,Harris MB,Papke RL,Stokes C,Schulte MK, Sci Rep. October 9, 2017; 7(1):2045-2322.
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract., Blackburn ATM,Bekheirnia N,Uma VC,Corkins ME,Xu Y,Xu Y,Rosenfeld JA,Bainbridge MN,Yang Y,Yang Y,Liu P,Madan-Khetarpal S,Delgado MR,Hudgins L,Krantz I,Rodriguez-Buritica D,Wheeler PG,Al-Gazali L,Mohamed Saeed Mohamed Al Shamsi A,Gomez-Ospina N,Chao HT,Mirzaa GM,Scheuerle AE,Kukolich MK,Scaglia F,Eng C,Willsey HR,Braun MC,Lamb DJ,Miller RK,Bekheirnia MR, Genet Med. December 1, 2019; 21(12):1530-0366.
Functional characterization of SMN evolution in mouse models of SMA., Osman EY,Bolding MR,Villalón E,Kaifer KA,Lorson ZC,Tisdale S,Hao Y,Conant GC,Pires JC,Pellizzoni L,Lorson CL, Sci Rep. July 1, 2019; 9(1):2045-2322.
Concomitant exposure to benzo[a]pyrene and triclosan at environmentally relevant concentrations induces metabolic syndrome with multigenerational consequences in Silurana (Xenopus) tropicalis., Usal M,Regnault C,Veyrenc S,Couturier K,Batandier C,Bulteau AL,Lejon D,Combourieu B,Lafond T,Raveton M,Reynaud S, Sci Total Environ. November 1, 2019; 689:1879-1026.
Kidney-specific WNK1 isoform (KS-WNK1) is a potent activator of WNK4 and NCC., Argaiz ER,Chavez-Canales M,Ostrosky-Frid M,Rodríguez-Gama A,Vázquez N,Gonzalez-Rodriguez X,Garcia-Valdes J,Hadchouel J,Ellison D,Gamba G, Am J Physiol Renal Physiol. September 1, 2018; 315(3):1522-1466.
The Many Faces of Xenopus: Xenopus laevis as a Model System to Study Wolf-Hirschhorn Syndrome., Lasser M,Pratt B,Monahan C,Kim SW,Lowery LA, Front Physiol. January 1, 2019; 10:1664-042X.
Molecular characterization of an aquaporin-2 mutation causing a severe form of nephrogenic diabetes insipidus., Saglar Ozer E,Moeller HB,Karaduman T,Fenton RA,Mergen H, Cell Mol Life Sci. March 1, 2020; 77(5):1420-9071.
The VAMP-associated protein VAPB is required for cardiac and neuronal pacemaker channel function., Silbernagel N,Walecki M,Schäfer MK,Kessler M,Zobeiri M,Rinné S,Kiper AK,Komadowski MA,Vowinkel KS,Wemhöner K,Fortmüller L,Schewe M,Dolga AM,Scekic-Zahirovic J,Matschke LA,Culmsee C,Baukrowitz T,Monassier L,Ullrich ND,Dupuis L,Just S,Budde T,Fabritz L,Decher N, FASEB J. November 1, 2018; 32(11):1530-6860.
NA3 glycan: a potential therapy for retinal pigment epithelial deficiency., Chintalapudi SR,Wang X,Wang X,Shi Y,Shi Y,Kocak M,Palamoor M,Davis RN,Hollingsworth TJ,Jablonski MM, FEBS J. December 1, 2019; 286(24):1742-4658.
Sorafenib Activity and Disposition in Liver Cancer Does Not Depend on Organic Cation Transporter 1., Chen M,Neul C,Schaeffeler E,Frisch F,Winter S,Schwab M,Koepsell H,Hu S,Laufer S,Baker SD,Sparreboom A,Nies AT, Clin Pharmacol Ther. January 1, 2020; 107(1):1532-6535.
Alkylglycerol monooxygenase, a heterotaxy candidate gene, regulates left-right patterning via Wnt signaling., Duncan AR,González DP,Del Viso F,Robson A,Khokha MK,Griffin JN, Dev Biol. December 1, 2019; 456(1):1095-564X.
Comparative Embryonic Spatio-Temporal Expression Profile Map of the Xenopus P2X Receptor Family., Blanchard C,Boué-Grabot E,Massé K, Front Cell Neurosci. January 1, 2019; 13:1662-5102.
Migraine-Associated TRESK Mutations Increase Neuronal Excitability through Alternative Translation Initiation and Inhibition of TREK., Royal P,Andres-Bilbe A,Ávalos Prado P,Verkest C,Wdziekonski B,Schaub S,Baron A,Lesage F,Gasull X,Levitz J,Sandoz G, Neuron. January 16, 2019; 101(2):0896-6273.
Xenopus: Driving the Discovery of Novel Genes in Patient Disease and Their Underlying Pathological Mechanisms Relevant for Organogenesis., Hwang WY,Marquez J,Khokha MK, Front Physiol. January 1, 2019; 10:1664-042X.
De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy., Park J,Flores BR,Scherer K,Kuepper H,Rossi M,Rupprich K,Rautenberg M,Deininger N,Weichselbaum A,Grimm A,Sturm M,Grasshoff U,Delpire E,Haack TB, J Med Genet. April 1, 2020; 57(4):1468-6244.
Understanding cornea homeostasis and wound healing using a novel model of stem cell deficiency in Xenopus., Adil MT,Simons CM,Sonam S,Henry JJ, Exp Eye Res. October 1, 2019; 187:0014-4835.
Divergent roles of the Wnt/PCP Formin Daam1 in renal ciliogenesis., Corkins ME,Krneta-Stankic V,Kloc M,McCrea PD,Gladden AB,Miller RK, PLoS One. January 1, 2019; 14(8):1932-6203.
Functional characterization of Kv11.1 (hERG) potassium channels split in the voltage-sensing domain., de la Peña P,Domínguez P,Barros F, Pflugers Arch. July 1, 2018; 470(7):1432-2013.
The molecular determinants of R-roscovitine block of hERG channels., Cernuda B,Fernandes CT,Allam SM,Orzillo M,Suppa G,Chia Chang Z,Athanasopoulos D,Buraei Z, PLoS One. September 3, 2019; 14(9):1932-6203.
Evaluation of mutant muscle Ca2+ channel properties using two different expression systems., Allard B, J Gen Physiol. July 2, 2018; 150(7):1540-7748.
Conservation and divergence of protein pathways in the vertebrate heart., Federspiel JD,Tandon P,Wilczewski CM,Wasson L,Herring LE,Venkatesh SS,Cristea IM,Conlon FL, PLoS Biol. September 6, 2019; 17(9):1545-7885.
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Characterization of AN317, a novel selective agonist of α6β2-containing nicotinic acetylcholine receptors., Sandager-Nielsen K,Ahring PK,Klein J,van Hout M,Thaneshwaran S,Dos Santos AB,Jacobsen TA,Amrutkar DV,Peters D,Jensen AA,Kohlmeier KA,Christophersen P,Dyhring T, Biochem Pharmacol. April 1, 2020; 174:1873-2968.
Tetrapeptide Ac-HAEE-NH2 Protects α4β2 nAChR from Inhibition by Aβ., Barykin EP,Garifulina AI,Tolstova AP,Anashkina AA,Adzhubei AA,Mezentsev YV,Shelukhina IV,Kozin SA,Tsetlin VI,Makarov AA, Int J Mol Sci. August 29, 2020; 21(17):1422-0067.
A Collision Coupling Model Governs the Activation of Neuronal GIRK1/2 Channels by Muscarinic-2 Receptors., Berlin S,Artzy E,Handklo-Jamal R,Kahanovitch U,Parnas H,Dascal N,Yakubovich D, Front Pharmacol. April 7, 2020; 11:1663-9812.
Using an aquatic model, Xenopus laevis, to uncover the role of chromodomain 1 in craniofacial disorders., Wyatt BH,Raymond TO,Lansdon LA,Darbro BW,Murray JC,Manak JR,Dickinson AJG, Genesis. February 1, 2021; 59(1-2):1526-968X.
Acute consequences of a unilateral VIIIth nerve transection on vestibulo-ocular and optokinetic reflexes in Xenopus laevis tadpoles., Soupiadou P,Gordy C,Forsthofer M,Sanchez-Gonzalez R,Straka H, J Neurol. December 1, 2020; 267(Suppl 1):1432-1459.
Establishing embryonic territories in the context of Wnt signaling., Velloso I,Maia LA,Amado NG,Reis AH,He X,Abreu JG, Int J Dev Biol. January 1, 2021; 65(4-5-6):1696-3547.
Role of epigenetics and miRNAs in orofacial clefts., Garland MA,Sun B,Zhang S,Reynolds K,Ji Y,Zhou CJ, Birth Defects Res. November 1, 2020; 112(19):2472-1727.
TMEM79/MATTRIN defines a pathway for Frizzled regulation and is required for Xenopus embryogenesis., Chen M,Amado N,Tan J,Reis A,Ge M,Abreu JG,He X, Elife. September 14, 2020; 9:2050-084X.
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Disruption of Cav1.2-mediated signaling is a pathway for ketamine-induced pathology., Chen H,Vandorpe DH,Xie X,Alper SL,Zeidel ML,Yu W, Nat Commun. August 28, 2020; 11(1):2041-1723.
Amiodarone bioconcentration and suppression of metamorphosis in Xenopus., Sanoh S,Hanada H,Kashiwagi K,Mori T,Goto-Inoue N,Suzuki KT,Mori J,Nakamura N,Yamamoto T,Kitamura S,Kotake Y,Sugihara K,Ohta S,Kashiwagi A, Aquat Toxicol. November 1, 2020; 228:1879-1514.
Structural determinants of TRPV4 inhibition and identification of new antagonists with antiviral activity., Doñate-Macian P,Duarte Y,Rubio-Moscardo F,Pérez-Vilaró G,Canan J,Díez J,González-Nilo F,Valverde MA, Br J Pharmacol. July 1, 2022; 179(14):1476-5381.
A nonsense variant in Rap Guanine Nucleotide Exchange Factor 5 (RAPGEF5) is associated with equine familial isolated hypoparathyroidism in Thoroughbred foals., Rivas VN,Magdesian KG,Fagan S,Slovis NM,Luethy D,Javsicas LH,Caserto BG,Miller AD,Dahlgren AR,Peterson J,Hales EN,Peng S,Watson KD,Khokha MK,Finno CJ, PLoS Genet. September 28, 2020; 16(9):1553-7404.
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The Stemness Gene Mex3A Is a Key Regulator of Neuroblast Proliferation During Neurogenesis., Naef V,De Sarlo M,Testa G,Corsinovi D,Azzarelli R,Borello U,Ori M, Front Cell Dev Biol. January 1, 2020; 8:2296-634X.
A Common Kinetic Property of Mutations Linked to Episodic Ataxia Type 1 Studied in the Shaker Kv Channel., Zhao J,Petitjean D,Haddad GA,Batulan Z,Blunck R, Int J Mol Sci. October 14, 2020; 21(20):1422-0067.
Nucleoporin NUP205 plays a critical role in cilia and congenital disease., Marquez J,Bhattacharya D,Lusk CP,Khokha MK, Dev Biol. January 1, 2021; 469:1095-564X.
S-nitrosylation of connexin43 hemichannels elicits cardiac stress-induced arrhythmias in Duchenne muscular dystrophy mice., Lillo MA,Himelman E,Shirokova N,Xie LH,Fraidenraich D,Contreras JE, JCI Insight. December 19, 2019; 4(24):2379-3708.
Dual Screen for Efficacy and Toxicity Identifies HDAC Inhibitor with Distinctive Activity Spectrum for BAP1-Mutant Uveal Melanoma., Kuznetsoff JN,Owens DA,Lopez A,Rodriguez DA,Chee NT,Kurtenbach S,Bilbao D,Roberts ER,Volmar CH,Wahlestedt C,Brothers SP,Harbour JW, Mol Cancer Res. February 1, 2021; 19(2):1557-3125.
Disease-associated HCN4 V759I variant is not sufficient to impair cardiac pacemaking., Erlenhardt N,Kletke O,Wohlfarth F,Komadowski MA,Clasen L,Makimoto H,Rinné S,Kelm M,Jungen C,Decher N,Meyer C,Klöcker N, Pflugers Arch. December 1, 2020; 472(12):1432-2013.
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Potential reproductive toxicity of multi-walled carbon nanotubes and their chronic exposure effects on the growth and development of Xenopus tropicalis., Zhao J,Luo W,Xu Y,Xu Y,Ling J,Deng L, Sci Total Environ. April 20, 2021; 766:1879-1026.
Stapled and Xenopus Glucagon-Like Peptide 1 (GLP-1)-Based Dual GLP-1/Gastrin Receptor Agonists with Improved Metabolic Benefits in Rodent Models of Obesity and Diabetes., Chen X,Fu J,Zhou F,Yang Q,Wang J,Feng H,Jiang W,Jin L,Tang X,Jiang N,Yin J,Han J, J Med Chem. November 12, 2020; 63(21):1520-4804.
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Allosteric regulation of mammalian Na+/I- symporter activity by perchlorate., Llorente-Esteban A,Manville RW,Reyna-Neyra A,Abbott GW,Amzel LM,Carrasco N, Nat Struct Mol Biol. June 1, 2020; 27(6):1545-9985.
Periodic albinism of a widely used albino mutant of Xenopus laevis caused by deletion of two exons in the Hermansky-Pudlak syndrome type 4 gene., Fukuzawa T, Genes Cells. January 1, 2021; 26(1):1356-9597.
Experimental Approaches to Identify Selective Picomolar Inhibitors for Carbonic Anhydrase IX., Kazokaitė-Adomaitienė J,Becker HM,Smirnovienė J,Dubois LJ,Matulis D, Curr Med Chem. January 1, 2021; 28(17):1875-533X.
Increased Dissociation of Adamantanamines in Influenza A M2 S31N with Partial Block by Rimantadine., McGuire KL,Hill JT,Busath DD, Biophys J. November 3, 2020; 119(9):1542-0086.
R-spondins are BMP receptor antagonists in Xenopus early embryonic development., Lee H,Lee H,Seidl C,Sun R,Glinka A,Niehrs C, Nat Commun. November 4, 2020; 11(1):2041-1723.
Functional Integrity of Synapses in the Central Nervous System of Cognitively Intact Individuals with High Alzheimer's Disease Neuropathology Is Associated with Absence of Synaptic Tau Oligomers., Singh A,Allen D,Fracassi A,Tumurbaatar B,Natarajan C,Scaduto P,Woltjer R,Kayed R,Limon A,Krishnan B,Taglialatela G, J Alzheimers Dis. January 1, 2020; 78(4):1875-8908.
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DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation., Schneider R,Deutsch K,Hoeprich GJ,Marquez J,Hermle T,Braun DA,Seltzsam S,Kitzler TM,Mao Y,Buerger F,Majmundar AJ,Onuchic-Whitford AC,Kolvenbach CM,Schierbaum L,Schneider S,Halawi AA,Nakayama M,Mann N,Connaughton DM,Klämbt V,Wagner M,Riedhammer KM,Renders L,Katsura Y,Thumkeo D,Soliman NA,Mane S,Lifton RP,Shril S,Khokha MK,Hoefele J,Goode BL,Hildebrandt F, Am J Hum Genet. December 3, 2020; 107(6):1537-6605.
Functional partitioning of a liquid-like organelle during assembly of axonemal dyneins., Lee C,Lee C,Lee C,Cox RM,Papoulas O,Horani A,Drew K,Devitt CC,Brody SL,Marcotte EM,Wallingford JB, Elife. December 2, 2020; 9:2050-084X.
A System for Assessing Dual Action Modulators of Glycine Transporters and Glycine Receptors., Sheipouri D,Gallagher CI,Shimmon S,Rawling T,Vandenberg RJ, Biomolecules. November 30, 2020; 10(12):2218-273X.
Clinical and molecular characterization of the R751L-CFTR mutation., Haq IJ,Althaus M,Gardner AI,Yeoh HY,Joshi U,Saint-Criq V,Verdon B,Townshend J,O'Brien C,Ben-Hamida M,Thomas M,Bourke S,van der Sluijs P,Braakman I,Ward C,Gray MA,Brodlie M, Am J Physiol Lung Cell Mol Physiol. February 1, 2021; 320(2):1522-1504.
Overexpression of TPX2 predicts poor clinical outcome and is associated with immune infiltration in hepatic cell cancer., Zhu H,Liu J,Feng J,Zhang Q,Bian T,Li X,Sun H,Zhang J,Liu Y, Medicine (Baltimore). December 4, 2020; 99(49):1536-5964.
Characterization of the GABRB2-Associated Neurodevelopmental Disorders., El Achkar CM,Harrer M,Smith L,Kelly M,Iqbal S,Maljevic S,Niturad CE,Vissers LELM,Poduri A,Yang E,Lal D,Lerche H,Møller RS,Olson HE, Ann Neurol. March 1, 2021; 89(3):1531-8249.
A Functional Comparison of Homopentameric Nicotinic Acetylcholine Receptors (ACR-16) Receptors From Necator americanus and Ancylostoma ceylanicum., Kaji MD,Geary TG,Beech RN, Front Mol Neurosci. January 1, 2020; 13:1662-5099.
The RNA helicase DDX3 induces neural crest by promoting AKT activity., Perfetto M,Xu X,Lu C,Shi Y,Shi Y,Yousaf N,Li J,Yien YY,Wei S, Development. January 19, 2021; 148(2):1477-9129.
Functional modulation of the human voltage-gated sodium channel NaV1.8 by auxiliary β subunits., Nevin ST,Lawrence N,Nicke A,Lewis RJ,Adams DJ, Channels (Austin). December 1, 2021; 15(1):1933-6969.
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Beneficial actions of the [A14K] analog of the frog skin peptide PGLa-AM1 in mice with obesity and degenerative diabetes: A mechanistic study., Musale V,Moffett RC,Conlon JM,Flatt PR,Abdel-Wahab YH, Peptides. February 1, 2021; 136:1873-5169.
Familial neonatal seizures caused by the Kv7.3 selectivity filter mutation T313I., Maghera J,Li J,Lamothe SM,Braun M,Appendino JP,Au PYB,Kurata HT, Epilepsia Open. December 1, 2020; 5(4):2470-9239.
MiR-9 and the Midbrain-Hindbrain Boundary: A Showcase for the Limited Functional Conservation and Regulatory Complexity of MicroRNAs., Alwin Prem Anand A,Alvarez-Bolado G,Wizenmann A, Front Cell Dev Biol. January 1, 2020; 8:2296-634X.
Differential Coassembly of α1-GABAARs Associated with Epileptic Encephalopathy., Hannan S,Affandi AHB,Minere M,Jones C,Goh P,Warnes G,Popp B,Trollmann R,Nizetic D,Smart TG, J Neurosci. July 15, 2020; 40(29):1529-2401.
Using Xenopus to analyze neurocristopathies like Kabuki syndrome., Schwenty-Lara J,Pauli S,Borchers A, Genesis. February 1, 2021; 59(1-2):1526-968X.
Xenopus leads the way: Frogs as a pioneering model to understand the human brain., Exner CRT,Willsey HR, Genesis. February 1, 2021; 59(1-2):1526-968X.
Editorial: Xenopus Models of Organogenesis and Disease., Griffin JN,Liu KJ,Liu KJ,Sempou E, Front Physiol. January 1, 2020; 11:1664-042X.
Phosphorylation of a chronic pain mutation in the voltage-gated sodium channel Nav1.7 increases voltage sensitivity., Kerth CM,Hautvast P,Körner J,Lampert A,Meents JE, J Biol Chem. January 1, 2021; 296:1083-351X.
Xenopus epidermal and endodermal epithelia as models for mucociliary epithelial evolution, disease, and metaplasia., Walentek P, Genesis. February 1, 2021; 59(1-2):1526-968X.
Distinct roles for prominin-1 and photoreceptor cadherin in outer segment disc morphogenesis in CRISPR-altered X. laevis., Carr BJ,Stanar P,Moritz OL, J Cell Sci. January 11, 2021; 134(1):1477-9137.
Developing Tadpole Xenopus laevis as a Comparative Animal Model to Study Mycobacterium abscessus Pathogenicity., Lopez A,Shoen C,Cynamon M,Dimitrakopoulou D,Paiola M,Pavelka MS,Robert J, Int J Mol Sci. January 15, 2021; 22(2):1422-0067.
Rab11fip5 regulates telencephalon development via ephrinB1 recycling., Yoon J,Garo J,Lee M,Sun J,Hwang YS,Daar IO, Development. February 2, 2021; 148(3):1477-9129.
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Neural tube closure requires the endocytic receptor Lrp2 and its functional interaction with intracellular scaffolds., Kowalczyk I,Lee C,Lee C,Lee C,Schuster E,Hoeren J,Trivigno V,Riedel L,Görne J,Wallingford JB,Hammes A,Feistel K, Development. January 26, 2021; 148(2):1477-9129.
Molecular Mechanism of Autosomal Recessive Long QT-Syndrome 1 without Deafness., Oertli A,Rinné S,Moss R,Kääb S,Seemann G,Beckmann BM,Decher N, Int J Mol Sci. January 23, 2021; 22(3):1422-0067.
Parallel in vivo analysis of large-effect autism genes implicates cortical neurogenesis and estrogen in risk and resilience., Willsey HR,Exner CRT,Xu Y,Xu Y,Everitt A,Sun N,Wang B,Dea J,Schmunk G,Zaltsman Y,Teerikorpi N,Kim A,Anderson AS,Shin D,Seyler M,Nowakowski TJ,Harland RM,Willsey AJ,State MW, Neuron. March 3, 2021; 109(5):0896-6273.
Aquatic models of human ciliary diseases., Corkins ME,Krneta-Stankic V,Kloc M,Miller RK, Genesis. February 1, 2021; 59(1-2):1526-968X.
Quantifying the dose-dependent impact of intracellular amyloid beta in a mathematical model of calcium regulation in xenopus oocyte., Minicucci J,Alfond M,Demuro A,Gerberry D,Latulippe J, PLoS One. January 28, 2021; 16(1):1932-6203.
Use of Xenopus laevis cell-free extracts to study BRCA2 role in chromosome alignment., El Dika M, DNA Repair (Amst). April 1, 2021; 100:1568-7856.
Geoffroea decorticans fruit extracts inhibit the wnt/β-catenin pathway, a therapeutic target in cancer., Somaini GC,Aybar MJ,Aybar MJ,Vera NR,Tríbulo C, Biochem Biophys Res Commun. March 26, 2021; 546:1090-2104.
Xenopus to the rescue: A model to validate and characterize candidate ciliopathy genes., Rao VG,Kulkarni SS, Genesis. February 1, 2021; 59(1-2):1526-968X.
Retinol binding protein 1 affects Xenopus anterior neural development via all-trans retinoic acid signaling., Flach H,Basten T,Schreiner C,Dietmann P,Greco S,Nies L,Roßmanith N,Walter S,Kühl M,Kühl SJ, Dev Dyn. August 1, 2021; 250(8):1058-8388.
Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome., Mann N,Mzoughi S,Schneider R,Kühl SJ,Schanze D,Klämbt V,Lovric S,Mao Y,Shi S,Tan W,Kühl M,Onuchic-Whitford AC,Treimer E,Kitzler TM,Kause F,Schumann S,Nakayama M,Buerger F,Shril S,van der Ven AT,Majmundar AJ,Holton KM,Kolb A,Braun DA,Rao J,Jobst-Schwan T,Mildenberger E,Lennert T,Kuechler A,Wieczorek D,Gross O,Ermisch-Omran B,Werberger A,Skalej M,Janecke AR,Soliman NA,Mane SM,Lifton RP,Kadlec J,Guccione E,Schmeisser MJ,Zenker M,Hildebrandt F, J Am Soc Nephrol. March 1, 2021; 32(3):1533-3450.
Synthesis and biological evaluation of benzhydryl-based antiplasmodial agents possessing Plasmodium falciparum chloroquine resistance transporter (PfCRT) inhibitory activity., Relitti N,Federico S,Pozzetti L,Butini S,Lamponi S,Taramelli D,D'Alessandro S,Martin RE,Shafik SH,Summers RL,Babij SK,Habluetzel A,Tapanelli S,Caldelari R,Gemma S,Campiani G, Eur J Med Chem. April 5, 2021; 215:1768-3254.
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly., Macken WL,Godwin A,Wheway G,Stals K,Nazlamova L,Ellard S,Alfares A,Aloraini T,AlSubaie L,Alfadhel M,Alajaji S,Wai HA,Self J,Douglas AGL,Kao AP,Guille M,Baralle D, Genome Med. February 25, 2021; 13(1):1756-994X.
Sleep-related hypermotor epilepsy associated mutations uncover important kinetic roles of α4β2- nicotinic acetylcholine receptor intracellular structures., Weltzin MM,George AA,Lukas RJ,Whiteaker P, PLoS One. March 3, 2021; 16(3):1932-6203.
Functional and Structural Characterization of ClC-1 and Nav1.4 Channels Resulting from CLCN1 and SCN4A Mutations Identified Alone and Coexisting in Myotonic Patients., Brenes O,Barbieri R,Vásquez M,Vindas-Smith R,Roig J,Romero A,Valle GD,Bermúdez-Guzmán L,Bertelli S,Pusch M,Morales F, Cells. February 11, 2021; 10(2):2073-4409.
Differential Regulation of Human Serotonin Receptor Type 3A by Chanoclavine and Ergonovine., Eom S,Jung W,Lee J,Lee J,Yeom HD,Lee S,Kim C,Park HD,Lee JH,Lee JH, Molecules. February 24, 2021; 26(5):1420-3049.
BRCA1-BARD1 regulates transcription through BRD4 in Xenopus nucleoplasmic extract., Barrows JK,Fullbright G,Long DT, Nucleic Acids Res. April 6, 2021; 49(6):1362-4962.
High nuclear TPX2 expression correlates with TP53 mutation and poor clinical behavior in a large breast cancer cohort, but is not an independent predictor of chromosomal instability., Matson DR,Denu RA,Zasadil LM,Burkard ME,Weaver BA,Flynn C,Stukenberg PT, BMC Cancer. February 23, 2021; 21(1):1471-2407.
Thyroid Disrupting Chemicals in Mixture Perturb Thymocyte Differentiation in Xenopus laevis Tadpoles., McGuire CC,Lawrence BP,Robert J, Toxicol Sci. May 27, 2021; 181(2):1096-0929.
Mcrs1 interacts with Six1 to influence early craniofacial and otic development., Neilson KM,Keer S,Bousquet N,Macrorie O,Majumdar HD,Kenyon KL,Alfandari D,Alfandari D,Moody SA, Dev Biol. November 1, 2020; 467(1-2):1095-564X.
Compound Heterozygous KCNQ1 Mutations Causing Recessive Romano-Ward Syndrome: Functional Characterization by Mutant Co-expression., González-Garrido A,Domínguez-Pérez M,Jacobo-Albavera L,López-Ramírez O,Guevara-Chávez JG,Zepeda-García O,Iturralde P,Carnevale A,Villarreal-Molina T, Front Cardiovasc Med. February 22, 2021; 8:2297-055X.
RNA demethylation by FTO stabilizes the FOXJ1 mRNA for proper motile ciliogenesis., Kim H,Lee YS,Lee YS,Kim SM,Jang S,Choi H,Lee JW,Lee JW,Kim TD,Kim VN, Dev Cell. April 19, 2021; 56(8):1878-1551.
Cation leak underlies neuronal excitability in an HCN1 developmental and epileptic encephalopathy., Bleakley LE,McKenzie CE,Soh MS,Forster IC,Pinares-Garcia P,Sedo A,Kathirvel A,Churilov L,Jancovski N,Maljevic S,Berkovic SF,Scheffer IE,Petrou S,Santoro B,Reid CA, Brain. August 17, 2021; 144(7):1460-2156.
Functional assessment of the "two-hit" model for neurodevelopmental defects in Drosophila and X. laevis., Pizzo L,Lasser M,Yusuff T,Jensen M,Ingraham P,Huber E,Singh MD,Monahan C,Iyer J,Desai I,Karthikeyan S,Gould DJ,Yennawar S,Weiner AT,Pounraja VK,Krishnan A,Rolls MM,Lowery LA,Girirajan S, PLoS Genet. April 5, 2021; 17(4):1553-7404.
Dissecting the Molecular Determinants of GABAA Receptors Current Rundown, a Hallmark of Refractory Human Epilepsy., Cifelli P,Di Angelantonio S,Alfano V,Morano A,De Felice E,Aronica E,Ruffolo G,Palma E, Brain Sci. March 30, 2021; 11(4):2076-3425.
Bioelectric signaling: Reprogrammable circuits underlying embryogenesis, regeneration, and cancer., Levin M, Cell. April 15, 2021; :1097-4172.
N-terminal region of RecQ4 inhibits non-homologous end joining and chromatin association of the Ku heterodimer in Xenopus egg extracts., Tsuyama T,Fujita K,Sasaki R,Hamanaka S,Sotoyama Y,Ogawa A,Kusuzaki K,Azuma Y,Tada S, Gene. June 30, 2021; 787:1879-0038.
Structure Basis for Shaping the Nse4 Protein by the Nse1 and Nse3 Dimer within the Smc5/6 Complex., Jo A,Li S,Shin JW,Zhao X,Cho Y, J Mol Biol. April 30, 2021; 433(9):1089-8638.
Molecular mechanisms of hearing loss in Nager syndrome., Maharana SK,Saint-Jeannet JP, Dev Biol. August 1, 2021; 476:1095-564X.
HPF1-dependent PARP activation promotes LIG3-XRCC1-mediated backup pathway of Okazaki fragment ligation., Kumamoto S,Nishiyama A,Chiba Y,Miyashita R,Konishi C,Azuma Y,Nakanishi M, Nucleic Acids Res. May 21, 2021; 49(9):1362-4962.
Functional rice with tandemly repeated Cbl-b ubiquitin ligase inhibitory pentapeptide prevents denervation-induced muscle atrophy in vivo., Akama K,Shimajiri Y,Kainou K,Iwasaki R,Nakao R,Nikawa T,Nishikawa A, Biosci Biotechnol Biochem. May 25, 2021; 85(6):1347-6947.
Local Anesthetics Inhibit Transient Receptor Potential Vanilloid Subtype 3 Channel Function in Xenopus Oocytes., Horishita R,Ogata Y,Fukui R,Yamazaki R,Moriwaki K,Ueno S,Yanagihara N,Uezono Y,Yokoyama Y,Minami K,Horishita T, Anesth Analg. June 1, 2021; 132(6):1526-7598.
Chronic Exposure to Two Gestagens Differentially Alters Morphology and Gene Expression in Silurana tropicalis., Thomson P,Pineda M,Yargeau V,Langlois VS, Arch Environ Contam Toxicol. May 1, 2021; 80(4):0090-4341.
Signaling Control of Mucociliary Epithelia: Stem Cells, Cell Fates, and the Plasticity of Cell Identity in Development and Disease., Walentek P, Cells Tissues Organs. January 1, 2022; 211(6):1422-6405.
WIN55,212-2, a Dual Modulator of Cannabinoid Receptors and G Protein-Coupled Inward Rectifier Potassium Channels., An D,Peigneur S,Tytgat J, Biomedicines. April 28, 2021; 9(5):2227-9059.
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Genetic and Physiological Effects of Insulin on Human Urate Homeostasis., Mandal AK,Leask MP,Estiverne C,Choi HK,Merriman TR,Mount DB, Front Physiol. January 1, 2021; 12:1664-042X.
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Modeling human congenital disorders with neural crest developmental defects using patient-derived induced pluripotent stem cells., Okuno H,Okano H, Regen Ther. August 24, 2021; 18:2352-3204.
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Molecular Confirmation of Ranavirus Infection in Amphibians From Chad, Africa., Box EK,Cleveland CA,Subramaniam K,Waltzek TB,Yabsley MJ, Front Vet Sci. September 16, 2021; 8:2297-1769.
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Huntingtin CAG expansion impairs germ layer patterning in synthetic human 2D gastruloids through polarity defects., Galgoczi S,Ruzo A,Markopoulos C,Yoney A,Phan-Everson T,Li S,Haremaki T,Metzger JJ,Etoc F,Brivanlou AH, Development. October 1, 2021; 148(19):1477-9129.
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Membrane cholesterol regulates TRPV4 function, cytoskeletal expression, and the cellular response to tension., Lakk M,Hoffmann GF,Gorusupudi A,Enyong E,Lin A,Bernstein PS,Toft-Bertelsen T,MacAulay N,Elliott MH,Križaj D, J Lipid Res. January 1, 2021; 62:0022-2275.
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CRISPR-SID: Identifying EZH2 as a druggable target for desmoid tumors via in vivo dependency mapping., Naert T,Tulkens D,Van Nieuwenhuysen T,Przybyl J,Demuynck S,van de Rijn M,Al-Jazrawe M,Alman BA,Coucke PJ,De Leeneer K,Vanhove C,Savvides SN,Creytens D,Vleminckx K,Vleminckx K, Proc Natl Acad Sci U S A. November 23, 2021; 118(47):1091-6490.
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Identification of SCN5a p.C335R Variant in a Large Family with Dilated Cardiomyopathy and Conduction Disease., Sedaghat-Hamedani F,Rebs S,El-Battrawy I,Chasan S,Krause T,Haas J,Zhong R,Liao Z,Xu Q,Zhou X,Zhou X,Akin I,Zitron E,Frey N,Streckfuss-Bömeke K,Kayvanpour E, Int J Mol Sci. November 30, 2021; 22(23):1422-0067.
Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates., Szenker-Ravi E,Ott T,Khatoo M,Moreau de Bellaing A,Goh WX,Chong YL,Beckers A,Kannesan D,Louvel G,Anujan P,Ravi V,Bonnard C,Moutton S,Schoen P,Fradin M,Colin E,Megarbane A,Daou L,Chehab G,Di Filippo S,Rooryck C,Deleuze JF,Boland A,Arribard N,Eker R,Tohari S,Ng AY,Rio M,Lim CT,Eisenhaber B,Eisenhaber F,Venkatesh B,Amiel J,Crollius HR,Gordon CT,Gossler A,Roy S,Attie-Bitach T,Blum M,Bouvagnet P,Reversade B, Nat Genet. January 1, 2022; 54(1):1546-1718.
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Migration of antibiotic resistance genes and evolution of flora structure in the Xenopus tropicalis intestinal tract with combined exposure to roxithromycin and oxytetracycline., Lin X,Xu Y,Xu Y,Han R,Luo W,Zheng L, Sci Total Environ. May 10, 2022; 820:1879-1026.
Engineered Wnt ligands enable blood-brain barrier repair in neurological disorders., Martin M,Vermeiren S,Bostaille N,Eubelen M,Spitzer D,Vermeersch M,Profaci CP,Pozuelo E,Toussay X,Raman-Nair J,Tebabi P,America M,De Groote A,Sanderson LE,Cabochette P,Germano RFV,Torres D,Boutry S,de Kerchove d'Exaerde A,Bellefroid EJ,Phoenix TN,Devraj K,Lacoste B,Daneman R,Liebner S,Vanhollebeke B, Science. February 18, 2022; 375(6582):1095-9203.
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Homozygous variants in PANX1 cause human oocyte death and female infertility., Wang W,Qu R,Dou Q,Wu F,Wang W,Chen B,Mu J,Zhang Z,Zhang Z,Zhang Z,Zhao L,Zhou Z,Dong J,Zeng Y,Liu R,Du J,Zhu S,Li Q,He L,Jin L,Wang L,Sang Q, Eur J Hum Genet. September 1, 2021; 29(9):1476-5438.
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PCD Genes-From Patients to Model Organisms and Back to Humans., Niziolek M,Bicka M,Osinka A,Samsel Z,Sekretarska J,Poprzeczko M,Bazan R,Fabczak H,Joachimiak E,Wloga D, Int J Mol Sci. February 3, 2022; 23(3):1422-0067.
Thyroid Hormone Receptor α Controls the Hind Limb Metamorphosis by Regulating Cell Proliferation and Wnt Signaling Pathways in Xenopus tropicalis., Tanizaki Y,Shibata Y,Zhang H,Shi YB,Shi YB, Int J Mol Sci. January 22, 2022; 23(3):1422-0067.
ATP and large signaling metabolites flux through caspase-activated Pannexin 1 channels., Narahari AK,Kreutzberger AJ,Gaete PS,Chiu YH,Leonhardt SA,Medina CB,Jin X,Oleniacz PW,Kiessling V,Barrett PQ,Ravichandran KS,Yeager M,Contreras JE,Tamm LK,Bayliss DA, Elife. January 7, 2021; 10:2050-084X.
The Ribosomal Protein L5 Functions During Xenopus Anterior Development Through Apoptotic Pathways., Schreiner C,Kernl B,Dietmann P,Riegger RJ,Kühl M,Kühl SJ, Front Cell Dev Biol. January 1, 2022; 10:2296-634X.
Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas., Zhong G,Ahimaz P,Edwards NA,Hagen JJ,Faure C,Lu Q,Kingma P,Middlesworth W,Khlevner J,El Fiky M,Schindel D,Fialkowski E,Kashyap A,Forlenza S,Kenny AP,Zorn AM,Shen Y,Chung WK, HGG Adv. July 14, 2022; 3(3):2666-2477.
Cilia-localized GID/CTLH ubiquitin ligase complex regulates protein homeostasis of sonic hedgehog signaling components., Hantel F,Liu H,Fechtner L,Neuhaus H,Ding J,Arlt D,Walentek P,Villavicencio-Lorini P,Gerhardt C,Hollemann T,Pfirrmann T, J Cell Sci. May 1, 2022; 135(9):1477-9137.
Trafficking of the glutamate transporter is impaired in LRRK2-related Parkinson's disease., Iovino L,Giusti V,Pischedda F,Giusto E,Plotegher N,Marte A,Battisti I,Di Iacovo A,Marku A,Piccoli G,Bandopadhyay R,Perego C,Bonifacino T,Bonanno G,Roseti C,Bossi E,Arrigoni G,Bubacco L,Greggio E,Hilfiker S,Civiero L, Acta Neuropathol. July 1, 2022; 144(1):1432-0533.
Distinctive mechanisms of epilepsy-causing mutants discovered by measuring S4 movement in KCNQ2 channels., Edmond MA,Hinojo-Perez A,Wu X,Perez Rodriguez ME,Barro-Soria R, Elife. June 1, 2022; 11:2050-084X.
Functional analysis reveals ionotropic GABA receptor subunit RDL is a target site of ivermectin and fluralaner in the yellow fever mosquito, Aedes aegypti., Wang Q,Wang H,Zhang Y,Zhang Y,Chen J,Upadhyay A,Bhowmick B,Hang J,Wu S,Liao C,Han Q, Pest Manag Sci. October 1, 2022; 78(10):1526-4998.
Predictive assays for craniofacial malformations: evaluation in Xenopus laevis embryos exposed to triadimefon., Battistoni M,Metruccio F,Di Renzo F,Bacchetta R,Menegola E, Arch Toxicol. October 1, 2022; 96(10):0340-5761.
Metalloprotease ADAM9 cleaves ephrin-B ligands and differentially regulates Wnt and mTOR signaling downstream of Akt kinase in colorectal cancer cells., Chandrasekera P,Perfetto M,Lu C,Zhuo M,Bahudhanapati H,Li J,Chen WC,Kulkarni P,Christian L,Liu J,Yien YY,Yu C,Wei S, J Biol Chem. August 1, 2022; 298(8):1083-351X.
Pharmacological Modulation of Melanocortin 1 Receptor Signaling by Mrap Proteins in Xenopus tropicalis., Tai X,Zhang Y,Zhang Y,Yao J,Li X,Liu J,Han J,Lyu J,Lin G,Zhang C, Front Endocrinol (Lausanne). January 1, 2022; 13:1664-2392.
Adrenergic receptor signaling induced by Klf15, a regulator of regeneration enhancer, promotes kidney reconstruction., Suzuki N,Kanai A,Suzuki Y,Ogino H,Ochi H, Proc Natl Acad Sci U S A. August 16, 2022; 119(33):1091-6490.
Aquatic Freshwater Vertebrate Models of Epilepsy Pathology: Past Discoveries and Future Directions for Therapeutic Discovery., Williams RE,Mruk K, Int J Mol Sci. August 3, 2022; 23(15):1422-0067.
Functions of block of proliferation 1 during anterior development in Xenopus laevis., Gärtner C,Meßmer A,Dietmann P,Kühl M,Kühl SJ, PLoS One. August 2, 2022; 17(8):1932-6203.
Functional characterization of a novel TP53RK mutation identified in a family with Galloway-Mowat syndrome., Treimer E,Kalayci T,Schumann S,Suer I,Greco S,Schanze D,Schmeisser MJ,Kühl SJ,Zenker M, Hum Mutat. December 1, 2022; 43(12):1098-1004.
INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex., Mascibroda LG,Shboul M,Elrod ND,Colleaux L,Hamamy H,Huang KL,Peart N,Singh MK,Lee H,Lee H,Merriman B,Jodoin JN,Sitaram P,Lee LA,Fathalla R,Al-Rawashdeh B,Ababneh O,El-Khateeb M,Escande-Beillard N,Nelson SF,Wu Y,Tong L,Kenney LJ,Roy S,Russell WK,Amiel J,Reversade B,Wagner EJ, Nat Commun. October 13, 2022; 13(1):2041-1723.
Transcription suppression is mediated by the HDAC1-Sin3 complex in Xenopus nucleoplasmic extract., Quaas CE,Lin B,Long DT, J Biol Chem. November 1, 2022; 298(11):1083-351X.
Mink1 regulates spemann organizer cell fate in the xenopus gastrula via Hmga2., Colleluori V,Khokha MK, Dev Biol. March 1, 2023; 495:1095-564X.
The Flavonol Quercitrin Hinders GSK3 Activity and Potentiates the Wnt/β-Catenin Signaling Pathway., Predes D,Maia LA,Matias I,Araujo HPM,Soares C,Barros-Aragão FGQ,Oliveira LFS,Reis RR,Amado NG,Simas ABC,Mendes FA,Gomes FCA,Figueiredo CP,Abreu JG, Int J Mol Sci. October 11, 2022; 23(20):1422-0067.
GABAA receptor function is enhanced by Interleukin-10 in human epileptogenic gangliogliomas and its effect is counteracted by Interleukin-1β., Ruffolo G,Alfano V,Romagnolo A,Zimmer T,Mills JD,Cifelli P,Gaeta A,Morano A,Anink J,Mühlebner A,Vezzani A,Aronica E,Palma E, Sci Rep. October 26, 2022; 12(1):2045-2322.
De novo KCNA6 variants with attenuated KV 1.6 channel deactivation in patients with epilepsy., Salpietro V,Galassi Deforie V,Efthymiou S,O'Connor E,Marcé-Grau A,Maroofian R,Striano P,Zara F,Morrow MM,Reich A,Blevins A,Sala-Coromina J,Accogli A,Fortuna S,Alesandrini M,Au PYB,Singhal NS,Cogne B,Isidor B,Hanna MG,Macaya A,Kullmann DM,Houlden H,Männikkö R, Epilepsia. February 1, 2023; 64(2):1528-1167.
Amphibians as a model to study the role of immune cell heterogeneity in host and mycobacterial interactions., Paiola M,Dimitrakopoulou D,Pavelka MS,Robert J, Dev Comp Immunol. February 1, 2023; 139:1879-0089.
Hnf1b renal expression directed by a distal enhancer responsive to Pax8., Goea L,Buisson I,Bello V,Eschstruth A,Paces-Fessy M,Le Bouffant R,Chesneau A,Cereghini S,Riou JF,Umbhauer M, Sci Rep. November 19, 2022; 12(1):2045-2322.
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition., Palmer EE,Pusch M,Picollo A,Forwood C,Nguyen MH,Suckow V,Gibbons J,Hoff A,Sigfrid L,Megarbane A,Nizon M,Cogné B,Beneteau C,Alkuraya FS,Chedrawi A,Hashem MO,Stamberger H,Weckhuysen S,Vanlander A,Ceulemans B,Rajagopalan S,Nunn K,Arpin S,Raynaud M,Motter CS,Ward-Melver C,Janssens K,Meuwissen M,Beysen D,Dikow N,Grimmel M,Haack TB,Clement E,McTague A,Hunt D,Townshend S,Ward M,Richards LJ,Simons C,Costain G,Dupuis L,Mendoza-Londono R,Dudding-Byth T,Boyle J,Saunders C,Fleming E,El Chehadeh S,Spitz MA,Piton A,Gerard B,Abi Warde MT,Rea G,McKenna C,Douzgou S,Banka S,Akman C,Bain JM,Sands TT,Wilson GN,Silvertooth EJ,Miller L,Lederer D,Sachdev R,Macintosh R,Monestier O,Karadurmus D,Collins F,Carter M,Rohena L,Willemsen MH,Ockeloen CW,Pfundt R,Kroft SD,Field M,Laranjeira FER,Fortuna AM,Soares AR,Michaud V,Naudion S,Golla S,Weaver DD,Bird LM,Friedman J,Clowes V,Joss S,Pölsler L,Campeau PM,Blazo M,Bijlsma EK,Rosenfeld JA,Beetz C,Powis Z,McWalter K,Brandt T,Torti E,Mathot M,Mohammad SS,Armstrong R,Kalscheuer VM, Mol Psychiatry. February 1, 2023; 28(2):1476-5578.
Pharmacological rescue of specific long QT variants of KCNQ1/KCNE1 channels., Zou X,Wu X,Sampson KJ,Colecraft HM,Larsson HP,Kass RS, Front Physiol. January 1, 2022; 13:1664-042X.
Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes., Lansdon LA,Dickinson A,Arlis S,Liu H,Hlas A,Hahn A,Bonde G,Long A,Standley J,Tyryshkina A,Wehby G,Lee NR,Daack-Hirsch S,Mohlke K,Girirajan S,Darbro BW,Cornell RA,Houston DW,Murray JC,Manak JR, Am J Hum Genet. January 5, 2023; 110(1):1537-6605.
The H2A.Z and NuRD associated protein HMG20A controls early head and heart developmental transcription programs., Herchenröther A,Gossen S,Friedrich T,Reim A,Daus N,Diegmüller F,Leers J,Sani HM,Gerstner S,Schwarz L,Stellmacher I,Szymkowiak LV,Nist A,Stiewe T,Borggrefe T,Mann M,Mackay JP,Bartkuhn M,Borchers A,Lan J,Hake SB, Nat Commun. January 28, 2023; 14(1):2041-1723.
HNF1B Alters an Evolutionarily Conserved Nephrogenic Program of Target Genes., Grand K,Stoltz M,Rizzo L,Röck R,Kaminski MM,Salinas G,Getwan M,Naert T,Pichler R,Lienkamp SS, J Am Soc Nephrol. March 1, 2023; 34(3):1533-3450.
The SARS-CoV-2 Virus and the Cholinergic System: Spike Protein Interaction with Human Nicotinic Acetylcholine Receptors and the Nicotinic Agonist Varenicline., Carlson EC,Macsai M,Bertrand S,Bertrand D,Nau J, Int J Mol Sci. March 15, 2023; 24(6):1422-0067.
Long-QT mutations in KCNE1 modulate the 17β-estradiol response of Kv7.1/KCNE1., Erlandsdotter LM,Giammarino L,Halili A,Nikesjö J,Gréen H,Odening KE,Liin SI, Sci Adv. March 17, 2023; 9(11):2375-2548.
Dopamine-induced arrestin recruitment and desensitization of the dopamine D4 receptor is regulated by G protein-coupled receptor kinase-2., Burström V,Ågren R,Betari N,Valle-León M,Garro-Martínez E,Ciruela F,Sahlholm K, Front Pharmacol. January 1, 2023; 14:1663-9812.
Increased Hemichannel Activity Displayed by a Connexin43 Mutation Causing a Familial Connexinopathy Exhibiting Hypotrichosis with Follicular Keratosis and Hyperostosis., Crouthamel OE,Li L,Dilluvio MT,White TW, Int J Mol Sci. January 22, 2023; 24(3):1422-0067.
The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot-Marie-Tooth disease., Cinarli Yuksel F,Nicolaou P,Spontarelli K,Dohrn MF,Rebelo AP,Koutsou P,Georghiou A,Artigas P,Züchner SL,Kleopa KA,Christodoulou K, J Neurol. May 1, 2023; 270(5):1432-1459.
Functional Characterization of a Spectrum of Novel Romano-Ward Syndrome KCNQ1 Variants., Rinné S,Oertli A,Nagel C,Tomsits P,Jenewein T,Kääb S,Kauferstein S,Loewe A,Beckmann BM,Decher N, Int J Mol Sci. January 10, 2023; 24(2):1422-0067.
Characteristic tetraspanin expression patterns mark various tissues during early Xenopus development., Kuriyama S,Tanaka M, Dev Growth Differ. February 1, 2023; 65(2):1440-169X.
OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis., Majmundar AJ,Widmeier E,Heneghan JF,Daga A,Wu CW,Buerger F,Hugo H,Ullah I,Amar A,Ottlewski I,Braun DA,Jobst-Schwan T,Lawson JA,Zahoor MY,Rodig NM,Tasic V,Nelson CP,Khaliq S,Schönauer R,Halbritter J,Sayer JA,Fathy HM,Baum MA,Shril S,Mane S,Alper SL,Hildebrandt F, Genet Med. March 1, 2023; 25(3):1530-0366.
RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis., Wong S,Tan YX,Loh AYT,Tan KY,Lee H,Lee H,Aziz Z,Nelson SF,Özkan E,Kayserili H,Escande-Beillard N,Reversade B, EMBO Mol Med. May 8, 2023; 15(5):1757-4684.
Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease., Mishra-Gorur K,Barak T,Kaulen LD,Henegariu O,Jin SC,Aguilera SM,Yalbir E,Goles G,Nishimura S,Miyagishima D,Djenoune L,Altinok S,Rai DK,Viviano S,Prendergast A,Zerillo C,Ozcan K,Baran B,Sencar L,Goc N,Yarman Y,Ercan-Sencicek AG,Bilguvar K,Lifton RP,Moliterno J,Louvi A,Yuan S,Deniz E,Brueckner M,Gunel M, Proc Natl Acad Sci U S A. April 18, 2023; 120(16):1091-6490.
The Splicing Factor PTBP1 Represses TP63 γ Isoform Production in Squamous Cell Carcinoma., Taylor W,Deschamps S,Reboutier D,Paillard L,Méreau A,Audic Y, Cancer Res Commun. December 1, 2022; 2(12):2767-9764.
The histone H4K20 methyltransferase SUV4-20H1/KMT5B is required for multiciliated cell differentiation in Xenopus., Angerilli A,Tait J,Berges J,Shcherbakova I,Pokrovsky D,Schauer T,Smialowski P,Hsam O,Mentele E,Nicetto D,Rupp RA, Life Sci Alliance. July 1, 2023; 6(7):2575-1077.
Exploring the Structural and Functional Diversity among FGF Signals: A Comparative Study of Human, Mouse, and Xenopus FGF Ligands in Embryonic Development and Cancer Pathogenesis., Goutam RS,Kumar V,Lee U,Kim J, Int J Mol Sci. April 20, 2023; 24(8):1422-0067.
Age-associated DNA methylation changes in Xenopus frogs., Morselli M,Bennett R,Shaidani NI,Horb M,Peshkin L,Pellegrini M, Epigenetics. December 1, 2023; 18(1):1559-2308.
TPX2 expression as a negative predictor of gemcitabine efficacy in pancreatic cancer., Guenther M,Surendran SA,Haas M,Heinemann V,von Bergwelt-Baildon M,Engel J,Werner J,Boeck S,Ormanns S, Br J Cancer. July 1, 2023; 129(1):0007-0920.
Pleiotropy of autism-associated chromatin regulators., Lasser M,Sun N,Xu Y,Xu Y,Wang S,Drake S,Law K,Gonzalez S,Wang B,Drury V,Castillo O,Zaltsman Y,Dea J,Bader E,McCluskey KE,State MW,Willsey AJ,Willsey HR, Development. July 15, 2023; 150(14):1477-9129.
Genetically programmed retinoic acid deficiency during gastrulation phenocopies most known developmental defects due to acute prenatal alcohol exposure in FASD., Petrelli B,Oztürk A,Pind M,Ayele H,Fainsod A,Hicks GG, Front Cell Dev Biol. January 1, 2023; 11:2296-634X.
Phenotype-genotype relationships in Xenopus sox9 crispants provide insights into campomelic dysplasia and vertebrate jaw evolution., Hossain N,Igawa T,Suzuki M,Suzuki M,Tazawa I,Nakao Y,Hayashi T,Suzuki N,Ogino H, Dev Growth Differ. October 1, 2023; 65(8):1440-169X.
Post-infection treatment with the E protein inhibitor BIT225 reduces disease severity and increases survival of K18-hACE2 transgenic mice infected with a lethal dose of SARS-CoV-2., Ewart G,Bobardt M,Bentzen BH,Yan Y,Thomson A,Klumpp K,Becker S,Rosenkilde MM,Miller M,Gallay P, PLoS Pathog. August 1, 2023; 19(8):1553-7374.
Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome., Blue EE,White JJ,Dush MK,Gordon WW,Wyatt BH,White P,Marvin CT,Helle E,Ojala T,Priest JR,Jenkins MM,Almli LM,Reefhuis J,Pangilinan F,Brody LC,McBride KL,Garg V,Shaw GM,Romitti PA,Nembhard WN,Browne ML,Werler MM,Kay DM,Mital S,Chong JX,Nascone-Yoder NM,Bamshad MJ, HGG Adv. October 12, 2023; 4(4):2666-2477.
Inactivation influences the extent of inhibition of voltage-gated Ca+2 channels by Gem-implications for channelopathies., Allam S,Levenson-Palmer R,Chia Chang Z,Kaur S,Cernuda B,Raman A,Booth A,Dobbins S,Suppa G,Yang J,Buraei Z, Front Physiol. January 1, 2023; 14:1664-042X.
Time-resolved quantitative proteomic analysis of the developing Xenopus otic vesicle reveals putative congenital hearing loss candidates., Baxi AB,Nemes P,Moody SA, iScience. September 15, 2023; 26(9):2589-0042.
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa., Bocquet B,Borday C,Erkilic N,Mamaeva D,Donval A,Masson C,Parain K,Kaminska K,Quinodoz M,Perea-Romero I,Garcia-Garcia G,Jimenez-Medina C,Boukhaddaoui H,Coget A,Leboucq N,Calzetti G,Gandolfi S,Percesepe A,Barili V,Uliana V,Delsante M,Bozzetti F,Scholl HP,Corton M,Ayuso C,Millan JM,Rivolta C,Meunier I,Perron M,Kalatzis V, JCI Insight. November 8, 2023; 8(21):2379-3708.
ADAM11 a novel regulator of Wnt and BMP4 signaling in neural crest and cancer., Pandey A,Cousin H,Horr B,Alfandari D,Alfandari D, Front Cell Dev Biol. January 1, 2023; 11:2296-634X.
Deleterious functional consequences of perfluoroalkyl substances accumulation into the myelin sheath., Butruille L,Jubin P,Martin E,Aigrot MS,Lhomme M,Fini JB,Demeneix B,Stankoff B,Lubetzki C,Zalc B,Remaud S, Environ Int. October 1, 2023; 180:0160-4120.
Generation of translucent Xenopus tropicalis through triple knockout of pigmentation genes., Nakajima K,Tazawa I,Furuno N, Dev Growth Differ. December 1, 2023; 65(9):1440-169X.
Xenopus Ssbp2 is required for embryonic pronephros morphogenesis and terminal differentiation., Cervino AS,Collodel MG,Lopez IA,Roa C,Hochbaum D,Hukriede NA,Cirio MC, Sci Rep. October 4, 2023; 13(1):2045-2322.
Estimating the true stability of the prehydrolytic outward-facing state in an ABC protein., Simon MA,Iordanov I,Szollosi A,Csanády L, Elife. October 2, 2023; 12:2050-084X.
The structural mechanism of dimeric DONSON in replicative helicase activation., Cvetkovic MA,Passaretti P,Butryn A,Reynolds-Winczura A,Kingsley G,Skagia A,Fernandez-Cuesta C,Poovathumkadavil D,George R,Chauhan AS,Jhujh SS,Stewart GS,Gambus A,Costa A, Mol Cell. November 16, 2023; 83(22):1097-4164.
The USP46 complex deubiquitylates LRP6 to promote Wnt/β-catenin signaling., Ng VH,Spencer Z,Neitzel LR,Nayak A,Loberg MA,Shen C,Kassel SN,Kroh HK,An Z,Anthony CC,Bryant JM,Lawson A,Goldsmith L,Benchabane H,Hansen AG,Li J,D'Souza S,Lebensohn AM,Rohatgi R,Weiss WA,Weiss VL,Williams C,Hong CC,Robbins DJ,Ahmed Y,Lee E,Lee E, Nat Commun. October 5, 2023; 14(1):2041-1723.
Advancements in the use of xenopus oocytes for modelling neurological disease for novel drug discovery., O'Connor EC,Kambara K,Bertrand D, Expert Opin Drug Discov. February 1, 2024; 19(2):1746-045X.
FGFR1 variants contributed to families with tooth agenesis., Yao S,Zhou X,Zhou X,Gu M,Zhang C,Bartsch O,Vona B,Fan L,Ma L,Pan Y, Hum Genomics. October 13, 2023; 17(1):1479-7364.
Using Xenopus to discover new candidate genes involved in BOR and other congenital hearing loss syndromes., Neal SJ,Rajasekaran A,Jusić N,Taylor L,Read M,Alfandari D,Alfandari D,Pignoni F,Moody SA, J Exp Zool B Mol Dev Evol. October 13, 2023; :1552-5015.
Zmym4 is required for early cranial gene expression and craniofacial cartilage formation., Jourdeuil K,Neilson KM,Cousin H,Tavares ALP,Majumdar HD,Alfandari D,Alfandari D,Moody SA, Front Cell Dev Biol. January 1, 2023; 11:2296-634X.
Small molecule-mediated reprogramming of Xenopus blastula stem cells to a neural crest state., Huber PB,LaBonne C, Dev Biol. January 1, 2024; 505:1095-564X.
GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine., Pierson TM,Yuan H,Marsh ED,Fuentes-Fajardo K,Adams DR,Markello T,Golas G,Simeonov DR,Holloman C,Tankovic A,Karamchandani MM,Schreiber JM,Mullikin JC,Tifft CJ,Toro C,Boerkoel CF,Traynelis SF,Gahl WA, Ann Clin Transl Neurol. March 1, 2014; 1(3):2328-9503.
Remarkable effect of transdermal nicotine in children with CHRNA4-related autosomal dominant sleep-related hypermotor epilepsy., Lossius K,de Saint Martin A,Myren-Svelstad S,Bjørnvold M,Minken G,Seegmuller C,Valenti Hirsch MP,Chelly J,Steinlein O,Picard F,Brodtkorb E, Epilepsy Behav. April 1, 2020; 105:1525-5069.
Mertk-expressing microglia influence oligodendrogenesis and myelin modelling in the CNS., Nguyen LT,Aprico A,Nwoke E,Walsh AD,Blades F,Avneri R,Martin E,Zalc B,Kilpatrick TJ,Binder MD, J Neuroinflammation. November 6, 2023; 20(1):1742-2094.
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders., Kaiyrzhanov R,Rad A,Lin SJ,Bertoli-Avella A,Kallemeijn WW,Godwin A,Zaki MS,Huang K,Lau T,Petree C,Efthymiou S,Karimiani EG,Hempel M,Normand EA,Rudnik-Schöneborn S,Schatz UA,Baggelaar MP,Ilyas M,Sultan T,Alvi JR,Ganieva M,Fowler B,Aanicai R,Tayfun GA,Al Saman A,Alswaid A,Amiri N,Asilova N,Shotelersuk V,Yeetong P,Azam M,Babaei M,Monajemi GB,Mohammadi P,Samie S,Banu SH,Pinto Basto J,Kortüm F,Bauer M,Bauer P,Beetz C,Garshasbi M,Issa AH,Eyaid W,Ahmed H,Hashemi N,Hassanpour K,Herman I,Ibrohimov S,Abdul-Majeed BA,Imdad M,Isrofilov M,Kaiyal Q,Khan S,Kirmse B,Koster J,Lourenço CM,Mitani T,Moldovan O,Murphy D,Najafi M,Pehlivan D,Rocha ME,Salpietro V,Schmidts M,Shalata A,Mahroum M,Talbeya JK,Taylor RW,Vazquez D,Vetro A,Waterham HR,Zaman M,Schrader TA,Chung WK,Guerrini R,Lupski JR,Gleeson J,Suri M,Jamshidi Y,Bhatia KP,Vona B,Schrader M,Severino M,Guille M,Tate EW,Varshney GK,Houlden H,Maroofian R, Brain. April 4, 2024; 147(4):1460-2156.
Enhanced C-To-T and A-To-G Base Editing in Mitochondrial DNA with Engineered DdCBE and TALED., Wei Y,Jin M,Huang S,Yao F,Ren N,Xu K,Li S,Gao P,Zhou Y,Chen Y,Chen Y,Yang H,Li W,Xu C,Zhang M,Wang X, Adv Sci (Weinh). January 1, 2024; 11(3):2198-3844.
Functional and clinical characterization of a novel homozygous KCNH2 missense variant in the pore region of Kv11.1 leading to a viable but severe long-QT syndrome., Delinière A,Jaupart L,Janin A,Millat G,Boulin T,Andrini O,Chevalier P, Gene. March 1, 2024; 897:1879-0038.
Enhanced Membrane Incorporation of H289Y Mutant GluK1 Receptors from the Audiogenic Seizure-Prone GASH/Sal Model: Functional and Morphological Impacts on Xenopus Oocytes., Díaz-Rodríguez SM,Ivorra I,Espinosa J,Vegar C,Herrero-Turrión MJ,López DE,Gómez-Nieto R,Alberola-Die A, Int J Mol Sci. November 28, 2023; 24(23):1422-0067.
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