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Summary Literature (785)
Literature for DOID 7: disease of anatomical entity


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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Effects of Chinese domestic polychlorinated biphenyls (PCBs) on gonadal differentiation in Xenopus laevis., Qin ZF,Zhou JM,Chu SG,Xu XB, Environ Health Perspect. April 1, 2003; 111(4):0091-6765.
Acute regulation of the SLC26A3 congenital chloride diarrhoea anion exchanger (DRA) expressed in Xenopus oocytes., Chernova MN,Jiang L,Shmukler BE,Schweinfest CW,Blanco P,Freedman SD,Stewart AK,Alper SL, J Physiol. May 15, 2003; 549(Pt 1):0022-3751.
Amyloid beta(1-42) peptide alters the gating of human and mouse alpha-bungarotoxin-sensitive nicotinic receptors., Grassi F,Palma E,Tonini R,Amici M,Ballivet M,Eusebi F, J Physiol. February 15, 2003; 547(Pt 1):0022-3751.
Response of larval Xenopus laevis to atrazine: assessment of growth, metamorphosis, and gonadal and laryngeal morphology., Carr JA,Gentles A,Smith EE,Goleman WL,Urquidi LJ,Thuett K,Kendall RJ,Giesy JP,Gross TS,Solomon KR,Van Der Kraak G, Environ Toxicol Chem. February 1, 2003; 22(2):1552-8618.
Investigation of nuclear architecture with a domain-presenting expression system., Dreger CK,König AR,Spring H,Lichter P,Herrmann H, J Struct Biol. January 1, 2002; 140(1-3):1047-8477.
Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1., Meadows LS,Malhotra J,Loukas A,Thyagarajan V,Kazen-Gillespie KA,Koopman MC,Kriegler S,Isom LL,Ragsdale DS, J Neurosci. December 15, 2002; 22(24):1529-2401.
Abnormal Tau phosphorylation of the Alzheimer-type also occurs during mitosis., Delobel P,Flament S,Hamdane M,Mailliot C,Sambo AV,Bégard S,Sergeant N,Delacourte A,Vilain JP,Buée L, J Neurochem. October 1, 2002; 83(2):1471-4159.
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro., Guipponi M,Vuagniaux G,Wattenhofer M,Shibuya K,Vazquez M,Dougherty L,Scamuffa N,Guida E,Okui M,Rossier C,Hancock M,Buchet K,Reymond A,Hummler E,Marzella PL,Kudoh J,Shimizu N,Scott HS,Antonarakis SE,Rossier BC, Hum Mol Genet. November 1, 2002; 11(23):1460-2083.
The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum., Howard HC,Mount DB,Rochefort D,Byun N,Dupré N,Lu J,Fan X,Song L,Rivière JB,Prévost C,Horst J,Simonati A,Lemcke B,Welch R,England R,Zhan FQ,Mercado A,Siesser WB,George AL,McDonald MP,Bouchard JP,Mathieu J,Delpire E,Rouleau GA, Nat Genet. November 1, 2002; 32(3):1546-1718.
Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy., Robitaille J,MacDonald ML,Kaykas A,Sheldahl LC,Zeisler J,Dubé MP,Zhang LH,Singaraja RR,Guernsey DL,Zheng B,Siebert LF,Hoskin-Mott A,Trese MT,Pimstone SN,Shastry BS,Moon RT,Hayden MR,Goldberg YP,Samuels ME, Nat Genet. October 1, 2002; 32(2):1546-1718.
Functional characterization of compound heterozygosity for GlyRalpha1 mutations in the startle disease hyperekplexia., Rea R,Tijssen MA,Herd C,Frants RR,Kullmann DM, Eur J Neurosci. July 1, 2002; 16(2):1460-9568.
Identification and molecular cloning of Xenopus laevis SP22, a protein associated with fertilization in mammals., Monetti C,Vigetti D,Gornati R,Prati M,Klinefelter GR,Bernardini G, Comp Biochem Physiol B Biochem Mol Biol. August 1, 2002; 132(4):1096-4959.
Two different mechanisms of disinhibition produced by GABAA receptor mutations linked to epilepsy in humans., Bianchi MT,Song L,Zhang H,Macdonald RL, J Neurosci. July 1, 2002; 22(13):1529-2401.
Two novel aquaporin-2 mutations responsible for congenital nephrogenic diabetes insipidus in Chinese families., Lin SH,Bichet DG,Sasaki S,Kuwahara M,Arthus MF,Lonergan M,Lin YF, J Clin Endocrinol Metab. June 1, 2002; 87(6):0021-972X.
Functional expression of mutations in the human NaCl cotransporter: evidence for impaired routing mechanisms in Gitelman's syndrome., De Jong JC,Van Der Vliet WA,Van Den Heuvel LP,Willems PH,Knoers NV,Bindels RJ, J Am Soc Nephrol. June 1, 2002; 13(6):1533-3450.
Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome., Preisig-Müller R,Schlichthörl G,Goerge T,Heinen S,Brüggemann A,Rajan S,Derst C,Veh RW,Daut J, Proc Natl Acad Sci U S A. May 28, 2002; 99(11):1091-6490.
Hermaphroditic, demasculinized frogs after exposure to the herbicide atrazine at low ecologically relevant doses., Hayes TB,Collins A,Lee M,Mendoza M,Noriega N,Stuart AA,Vonk A, Proc Natl Acad Sci U S A. April 16, 2002; 99(8):1091-6490.
Modelling Alzheimer-specific abnormal Tau phosphorylation independently of GSK3beta and PKA kinase activities., Delobel P,Flament S,Hamdane M,Delacourte A,Vilain JP,Buée L, FEBS Lett. April 10, 2002; 516(1-3):1873-3468.
Hedgehog signaling in gastrointestinal development and disease., Harmon EB,Ko AH,Kim SK, Curr Mol Med. February 1, 2002; 2(1):1875-5666.
Vertebrate hairy and Enhancer of split related proteins: transcriptional repressors regulating cellular differentiation and embryonic patterning., Davis RL,Turner DL, Oncogene. December 20, 2001; 20(58):0950-9232.
Expression of the gene encoding the beta-amyloid precursor protein APP in Xenopus laevis., van den Hurk WH,Bloemen M,Martens GJ, Brain Res Mol Brain Res. December 16, 2001; 97(1):0169-328X.
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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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A homozygous nonsense mutation (c.214C->A) in the biliverdin reductase alpha gene (BLVRA) results in accumulation of biliverdin during episodes of cholestasis., Nytofte NS,Serrano MA,Monte MJ,Gonzalez-Sanchez E,Tumer Z,Ladefoged K,Briz O,Marin JJ, J Med Genet. April 1, 2011; 48(4):1468-6244.
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RG3487, a novel nicotinic α7 receptor partial agonist, improves cognition and sensorimotor gating in rodents., Wallace TL,Callahan PM,Tehim A,Bertrand D,Tombaugh G,Wang S,Xie W,Rowe WB,Ong V,Graham E,Terry AV,Rodefer JS,Herbert B,Murray M,Porter R,Santarelli L,Lowe DA, J Pharmacol Exp Ther. January 1, 2011; 336(1):1521-0103.
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A neuroprotective role for polyamines in a Xenopus tadpole model of epilepsy., Bell MR,Belarde JA,Johnson HF,Aizenman CD, Nat Neurosci. April 1, 2011; 14(4):1546-1726.
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Allosteric modulation of related ligand-gated ion channels synergistically induces long-term potentiation in the hippocampus and enhances cognition., Johnstone TB,Gu Z,Yoshimura RF,Villegier AS,Hogenkamp DJ,Whittemore ER,Huang JC,Tran MB,Belluzzi JD,Yakel JL,Gee KW, J Pharmacol Exp Ther. March 1, 2011; 336(3):1521-0103.
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Insights on the evolution of prolyl 3-hydroxylation sites from comparative analysis of chicken and Xenopus fibrillar collagens., Hudson DM,Weis M,Eyre DR, PLoS One. May 3, 2011; 6(5):1932-6203.
Epigenetic reprogramming of breast cancer cells with oocyte extracts., Allegrucci C,Rushton MD,Dixon JE,Sottile V,Shah M,Kumari R,Watson S,Alberio R,Johnson AD, Mol Cancer. January 13, 2011; 10(1):1476-4598.
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Examining the cardiac NK-2 genes in early heart development., Bartlett H,Veenstra GJ,Weeks DL, Pediatr Cardiol. April 1, 2010; 31(3):1432-1971.
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Kcna1-mutant rats dominantly display myokymia, neuromyotonia and spontaneous epileptic seizures., Ishida S,Sakamoto Y,Nishio T,Baulac S,Kuwamura M,Ohno Y,Takizawa A,Kaneko S,Serikawa T,Mashimo T, Dev Biol. January 30, 2012; 1435:0012-1606.
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Xenopus as a model system for the study of GOLPH2/GP73 function: Xenopus GOLPH2 is required for pronephros development., Li L,Wen L,Gong Y,Mei G,Liu J,Chen Y,Chen Y,Peng T, PLoS One. January 1, 2012; 7(6):1932-6203.
Suppression of Bmp4 signaling by the zinc-finger repressors Osr1 and Osr2 is required for Wnt/β-catenin-mediated lung specification in Xenopus., Rankin SA,Rankin SA,Gallas AL,Neto A,Gómez-Skarmeta JL,Zorn AM, Development. August 1, 2012; 139(16):1477-9129.
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Isthmin inhibits glioma growth through antiangiogenesis in vivo., Yuan B,Xian R,Ma J,Chen Y,Chen Y,Lin C,Song Y, J Neurooncol. September 1, 2012; 109(2):1573-7373.
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Live imaging of targeted cell ablation in Xenopus: a new model to study demyelination and repair., Kaya F,Mannioui A,Chesneau A,Sekizar S,Maillard E,Ballagny C,Houel-Renault L,Dupasquier D,Bronchain O,Holtzmann I,Desmazieres A,Thomas JL,Demeneix BA,Brophy PJ,Zalc B,Mazabraud A, J Neurosci. September 12, 2012; 32(37):1529-2401.
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An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract., Senthil Kumar G,Kyle JW,Minogue PJ,Dinesh Kumar K,Vasantha K,Berthoud VM,Beyer EC,Santhiya ST, Exp Eye Res. May 1, 2013; 110:0014-4835.
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Functional analysis of missense mutations in Kv8.2 causing cone dystrophy with supernormal rod electroretinogram., Smith KE,Wilkie SE,Tebbs-Warner JT,Jarvis BJ,Gallasch L,Stocker M,Hunt DM, J Biol Chem. December 21, 2012; 287(52):1083-351X.
Restricted neural plasticity in vestibulospinal pathways after unilateral labyrinthectomy as the origin for scoliotic deformations., Lambert FM,Malinvaud D,Gratacap M,Straka H,Vidal PP, J Neurosci. April 17, 2013; 33(16):1529-2401.
Connexins in epidermal homeostasis and skin disease., Scott CA,Tattersall D,O'Toole EA,Kelsell DP, Biochim Biophys Acta. August 1, 2012; 1818(8):0006-3002.
Identification and characterization of a small-molecule inhibitor of Wnt signaling in glioblastoma cells., De Robertis A,Valensin S,Rossi M,Tunici P,Verani M,De Rosa A,Giordano C,Varrone M,Nencini A,Pratelli C,Benicchi T,Bakker A,Hill J,Sangthongpitag K,Pendharkar V,Liu B,Ng FM,Then SW,Jing Tai S,Cheong SM,He X,Caricasole A,Salerno M, Mol Cancer Ther. July 1, 2013; 12(7):1538-8514.
Bcl6a function is required during optic cup formation to prevent p53-dependent apoptosis and colobomata., Lee J,Lee J,Lee BK,Gross JM, Hum Mol Genet. September 1, 2013; 22(17):1460-2083.
Gout-causing Q141K mutation in ABCG2 leads to instability of the nucleotide-binding domain and can be corrected with small molecules., Woodward OM,Tukaye DN,Cui J,Greenwell P,Constantoulakis LM,Parker BS,Rao A,Köttgen M,Maloney PC,Guggino WB, Proc Natl Acad Sci U S A. March 26, 2013; 110(13):1091-6490.
MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development., Lalani SR,Ware SM,Wang X,Zapata G,Tian Q,Franco LM,Jiang Z,Jiang Z,Bucasas K,Scott DA,Campeau PM,Hanchard N,Umaña L,Cast A,Patel A,Cheung SW,McBride KL,Bray M,Craig Chinault A,Boggs BA,Huang M,Baker MR,Hamilton S,Towbin J,Jefferies JL,Fernbach SD,Potocki L,Belmont JW, Hum Mol Genet. November 1, 2013; 22(21):1460-2083.
Disease-associated mutations in CNGB3 promote cytotoxicity in photoreceptor-derived cells., Liu C,Sherpa T,Varnum MD, Mol Vis. June 11, 2013; 19:1090-0535.
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3., Hoff S,Halbritter J,Epting D,Frank V,Nguyen TM,van Reeuwijk J,Boehlke C,Schell C,Yasunaga T,Helmstädter M,Mergen M,Filhol E,Boldt K,Horn N,Ueffing M,Otto EA,Eisenberger T,Elting MW,van Wijk JA,Bockenhauer D,Sebire NJ,Rittig S,Vyberg M,Ring T,Pohl M,Pape L,Neuhaus TJ,Elshakhs NA,Koon SJ,Harris PC,Grahammer F,Huber TB,Kuehn EW,Kramer-Zucker A,Bolz HJ,Roepman R,Saunier S,Walz G,Hildebrandt F,Bergmann C,Lienkamp SS, Nat Genet. August 1, 2013; 45(8):1546-1718.
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GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy., Lemke JR,Hendrickx R,Geider K,Laube B,Schwake M,Harvey RJ,James VM,Pepler A,Steiner I,Hörtnagel K,Neidhardt J,Ruf S,Wolff M,Bartholdi D,Caraballo R,Platzer K,Suls A,De Jonghe P,Biskup S,Weckhuysen S, Ann Neurol. January 1, 2014; 75(1):1531-8249.
Characterization of SLC26A9 in patients with CF-like lung disease., Bakouh N,Bienvenu T,Thomas A,Ehrenfeld J,Liote H,Roussel D,Duquesnoy P,Farman N,Viel M,Cherif-Zahar B,Amselem S,Taam RA,Edelman A,Planelles G,Sermet-Gaudelus I, Hum Mutat. October 1, 2013; 34(10):1098-1004.
Essential roles of LEM-domain protein MAN1 during organogenesis in Xenopus laevis and overlapping functions of emerin., Reil M,Dabauvalle MC, Eur J Cell Biol. January 1, 2013; 92(8-9):0171-9335.
The heterotaxy gene GALNT11 glycosylates Notch to orchestrate cilia type and laterality., Boskovski MT,Yuan S,Pedersen NB,Goth CK,Makova S,Clausen H,Brueckner M,Khokha MK, Nature. December 19, 2013; 504(7480):0143-5221.
Cardiac expression and atrial fibrillation-associated remodeling of K₂p2.1 (TREK-1) K⁺ channels in a porcine model., Schmidt C,Wiedmann F,Tristram F,Anand P,Wenzel W,Lugenbiel P,Schweizer PA,Katus HA,Thomas D, Life Sci. March 3, 2014; 97(2):0024-3205.
The variant hERG/R148W associated with LQTS is a mutation that reduces current density on co-expression with the WT., Mechakra A,Vincent Y,Chevalier P,Millat G,Ficker E,Jastrzebski M,Poulin H,Pouliot V,Chahine M,Christé G, Gene. February 25, 2014; 536(2):1879-0038.
KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16., Parrock S,Hussain S,Issler N,Differ AM,Lench N,Guarino S,Oosterveld MJ,Keijzer-Veen M,Brilstra E,van Wieringen H,Konijnenberg AY,Amin-Rasip S,Dumitriu S,Klootwijk E,Knoers N,Bockenhauer D,Kleta R,Zdebik AA, Nephron Physiol. January 1, 2013; 123(3-4):1660-2137.
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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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The severe autosomal dominant retinitis pigmentosa rhodopsin mutant Ter349Glu mislocalizes and induces rapid rod cell death., Hollingsworth TJ,Gross AK, J Biol Chem. October 4, 2013; 288(40):1083-351X.
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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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Analyzing and Modeling the Kinetics of Amyloid Beta Pores Associated with Alzheimer's Disease Pathology., Ullah G,Demuro A,Parker I,Pearson JE, PLoS One. September 4, 2015; 10(9):1932-6203.
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Xenopus laevis as a Model to Identify Translation Impairment., de Broucker A,Semaille P,Cailliau K,Martoriati A,Comptdaer T,Bodart JF,Destée A,Chartier-Harlin MC, J Vis Exp. September 27, 2015; (103):1940-087X.
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Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients., Vindas-Smith R,Fiore M,Vásquez M,Cuenca P,Del Valle G,Lagostena L,Gaitán-Peñas H,Estevez R,Pusch M,Morales F, Hum Mutat. January 1, 2016; 37(1):1098-1004.
A channelopathy mechanism revealed by direct calmodulin activation of TrpV4., Loukin SH,Teng J,Kung C, Proc Natl Acad Sci U S A. July 28, 2015; 112(30):1091-6490.
CRISPR/Cas9: An inexpensive, efficient loss of function tool to screen human disease genes in Xenopus., Bhattacharya D,Marfo CA,Li D,Lane M,Khokha MK, Dev Biol. December 15, 2015; 408(2):1095-564X.
Ptbp1 and Exosc9 knockdowns trigger skin stability defects through different pathways., Noiret M,Mottier S,Angrand G,Gautier-Courteille C,Lerivray H,Viet J,Paillard L,Mereau A,Hardy S,Audic Y, Dev Biol. January 15, 2016; 409(2):1095-564X.
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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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Iron Overload Leading to Torsades de Pointes in β-Thalassemia and Long QT Syndrome., Refaat MM,El Hage L,Steffensen AB,Hotait M,Schmitt N,Scheinman M,Badhwar N, Card Electrophysiol Clin. March 1, 2016; 8(1):1877-9190.
Polyunsaturated fatty acids are potent openers of human M-channels expressed in Xenopus laevis oocytes., Liin SI,Karlsson U,Bentzen BH,Schmitt N,Elinder F, Acta Physiol (Oxf). September 1, 2016; 218(1):1748-1716.
Xenopus as a model organism for birth defects-Congenital heart disease and heterotaxy., Duncan AR,Khokha MK, Semin Cell Dev Biol. March 1, 2016; 51:1096-3634.
Acetylcholine receptors from human muscle as pharmacological targets for ALS therapy., Palma E,Reyes-Ruiz JM,Lopergolo D,Roseti C,Bertollini C,Ruffolo G,Cifelli P,Onesti E,Limatola C,Miledi R,Inghilleri M, Proc Natl Acad Sci U S A. March 15, 2016; 113(11):1091-6490.
A pure chloride channel mutant of CLC-5 causes Dent's disease via insufficient V-ATPase activation., Satoh N,Yamada H,Yamazaki O,Suzuki M,Suzuki M,Nakamura M,Suzuki A,Ashida A,Yamamoto D,Kaku Y,Sekine T,Seki G,Horita S, Pflugers Arch. July 1, 2016; 468(7):1432-2013.
Musculocontractural Ehlers-Danlos syndrome and neurocristopathies: dermatan sulfate is required for Xenopus neural crest cells to migrate and adhere to fibronectin., Gouignard N,Maccarana M,Strate I,von Stedingk K,Malmström A,Pera EM, Dis Model Mech. June 1, 2016; 9(6):1754-8411.
The search for NKCC1-selective drugs for the treatment of epilepsy: Structure-function relationship of bumetanide and various bumetanide derivatives in inhibiting the human cation-chloride cotransporter NKCC1A., Lykke K,Töllner K,Feit PW,Erker T,MacAulay N,Löscher W, Epilepsy Behav. June 1, 2016; 59:1525-5069.
The cataract related mutation N188T in human connexin46 (hCx46) revealed a critical role for residue N188 in the docking process of gap junction channels., Schadzek P,Schlingmann B,Schaarschmidt F,Lindner J,Koval M,Heisterkamp A,Preller M,Ngezahayo A, Biochim Biophys Acta. January 1, 2016; 1858(1):0006-3002.
WNT16 antagonises excessive canonical WNT activation and protects cartilage in osteoarthritis., Nalesso G,Thomas BL,Sherwood JC,Yu J,Addimanda O,Eldridge SE,Thorup AS,Dale L,Schett G,Zwerina J,Eltawil N,Pitzalis C,Dell'Accio F, Ann Rheum Dis. January 1, 2017; 76(1):1468-2060.
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.
Immunosuppressive evidence of Tityus serrulatus toxins Ts6 and Ts15: insights of a novel K(+) channel pattern in T cells., Pucca MB,Bertolini TB,Cerni FA,Bordon KC,Peigneur S,Tytgat J,Bonato VL,Arantes EC, Immunology. February 1, 2016; 147(2):1365-2567.
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.
ROMK expression remains unaltered in a mouse model of familial hyperkalemic hypertension caused by the CUL3Δ403-459 mutation., Murthy M,Kurz T,O'Shaughnessy KM, Physiol Rep. July 1, 2016; 4(13):2051-817X.
Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy., Sicca F,Ambrosini E,Marchese M,Sforna L,Servettini I,Valvo G,Brignone MS,Lanciotti A,Moro F,Grottesi A,Catacuzzeno L,Baldini S,Hasan S,D'Adamo MC,Franciolini F,Molinari P,Santorelli FM,Pessia M, Sci Rep. September 28, 2016; 6:2045-2322.
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.
Congenital Heart Disease Genetics Uncovers Context-Dependent Organization and Function of Nucleoporins at Cilia., Del Viso F,Huang F,Myers J,Chalfant M,Zhang Y,Zhang Y,Reza N,Bewersdorf J,Lusk CP,Khokha MK, Dev Cell. September 12, 2016; 38(5):1878-1551.
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.
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.
Expression of ribosomopathy genes during Xenopus tropicalis embryogenesis., Robson A,Owens ND,Baserga SJ,Khokha MK,Griffin JN, BMC Dev Biol. October 26, 2016; 16(1):1471-213X.
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.
Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects., Cowan JR,Tariq M,Shaw C,Rao M,Belmont JW,Lalani SR,Smolarek TA,Ware SM, 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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Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)., Tristani-Firouzi M,Jensen JL,Donaldson MR,Sansone V,Meola G,Hahn A,Bendahhou S,Kwiecinski H,Fidzianska A,Plaster N,Fu YH,Ptacek LJ,Tawil R, J Clin Invest. August 1, 2002; 110(3):1558-8238.
An Epha4/Sipa1l3/Wnt pathway regulates eye development and lens maturation., Rothe M,Kanwal N,Dietmann P,Seigfried FA,Hempel A,Schütz D,Reim D,Engels R,Linnemann A,Schmeisser MJ,Bockmann J,Kühl M,Boeckers TM,Kühl SJ, Development. January 15, 2017; 144(2):1477-9129.
Association between Single-Nucleotide Polymorphisms of the hOGG1,NEIL1,APEX1, FEN1,LIG1, and LIG3 Genes and Alzheimer's Disease Risk., Kwiatkowski D,Czarny P,Toma M,Korycinska A,Sowinska K,Galecki P,Bachurska A,Bielecka-Kowalska A,Szemraj J,Maes M,Sliwinski T, Neuropsychobiology. January 1, 2016; 73(2):1423-0224.
Mutations in GABRB3: From febrile seizures to epileptic encephalopathies., Møller RS,Wuttke TV,Helbig I,Marini C,Johannesen KM,Brilstra EH,Vaher U,Borggraefe I,Talvik I,Talvik T,Kluger G,Francois LL,Lesca G,de Bellescize J,Blichfeldt S,Chatron N,Holert N,Jacobs J,Swinkels M,Betzler C,Syrbe S,Nikanorova M,Myers CT,Larsen LH,Vejzovic S,Pendziwiat M,von Spiczak S,Hopkins S,Dubbs H,Mang Y,Mukhin K,Holthausen H,van Gassen KL,Dahl HA,Tommerup N,Mefford HC,Rubboli G,Guerrini R,Lemke JR,Lerche H,Muhle H,Maljevic S, Neurology. January 31, 2017; 88(5):1526-632X.
TALENs and CRISPR/Cas9 fuel genetically engineered clinically relevant Xenopus tropicalis tumor models., Naert T,Van Nieuwenhuysen T,Vleminckx K,Vleminckx K, Genesis. January 1, 2017; 55(1-2):1526-968X.
Opposing Effects of Valproic Acid Treatment Mediated by Histone Deacetylase Inhibitor Activity in Four Transgenic X. laevis Models of Retinitis Pigmentosa., Vent-Schmidt RYJ,Wen RH,Zong Z,Chiu CN,Tam BM,May CG,Moritz OL, J Neurosci. January 25, 2017; 37(4):1529-2401.
Using Xenopus to understand human disease and developmental disorders., Sater AK,Moody SA, Genesis. January 1, 2017; 55(1-2):1526-968X.
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.
Toolbox in a tadpole: Xenopus for kidney research., Getwan M,Lienkamp SS, Cell Tissue Res. July 1, 2017; 369(1):1432-0878.
Clinical and Genetic Spectrum of Bartter Syndrome Type 3., Seys E,Andrini O,Keck M,Mansour-Hendili L,Courand PY,Simian C,Deschenes G,Kwon T,Bertholet-Thomas A,Bobrie G,Borde JS,Bourdat-Michel G,Decramer S,Cailliez M,Krug P,Cozette P,Delbet JD,Dubourg L,Chaveau D,Fila M,Jourde-Chiche N,Knebelmann B,Lavocat MP,Lemoine S,Djeddi D,Llanas B,Louillet F,Merieau E,Mileva M,Mota-Vieira L,Mousson C,Nobili F,Novo R,Roussey-Kesler G,Vrillon I,Walsh SB,Teulon J,Blanchard A,Vargas-Poussou R, J Am Soc Nephrol. August 1, 2017; 28(8):1533-3450.
A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling., Vivante A,Mann N,Yonath H,Weiss AC,Getwan M,Kaminski MM,Bohnenpoll T,Teyssier C,Chen J,Shril S,van der Ven AT,Ityel H,Schmidt JM,Widmeier E,Bauer SB,Sanna-Cherchi S,Gharavi AG,Lu W,Magen D,Shukrun R,Lifton RP,Tasic V,Stanescu HC,Cavaillès V,Kleta R,Anikster Y,Dekel B,Kispert A,Lienkamp SS,Hildebrandt F, J Am Soc Nephrol. August 1, 2017; 28(8):1533-3450.
Mechanosensory Stimulation Evokes Acute Concussion-Like Behavior by Activating GIRKs Coupled to Muscarinic Receptors in a Simple Vertebrate., Li WC,Zhu XY,Ritson E, eNeuro. January 1, 2017; 4(2):2373-2822.
Co-accumulation of cis-regulatory and coding mutations during the pseudogenization of the Xenopus laevis homoeologs six6.L and six6.S., Ochi H,Kawaguchi A,Tanouchi M,Suzuki N,Kumada T,Iwata Y,Ogino H, Dev Biol. July 1, 2017; 427(1):1095-564X.
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Modeling Dominant and Recessive Forms of Retinitis Pigmentosa by Editing Three Rhodopsin-Encoding Genes in Xenopus Laevis Using Crispr/Cas9., Feehan JM,Chiu CN,Stanar P,Tam BM,Ahmed SN,Moritz OL, Sci Rep. July 31, 2017; 7(1):2045-2322.
TPX2-p53-GLIPR1 regulatory circuitry in cell proliferation, invasion, and tumor growth of bladder cancer., Yan L,Li Q,Yang J,Qiao B, J Cell Biochem. February 1, 2018; 119(2):0730-2312.
The L530R variation associated with recurrent kidney stones impairs the structure and function of TRPV5., Wang L,Holmes RP,Peng JB, Biochem Biophys Res Commun. October 21, 2017; 492(3):1090-2104.
Antidepressant, anticonvulsant and antinociceptive effects of 3'-methoxy-6-methylflavone and 3'-hydroxy-6-methylflavone may involve GABAergic mechanisms., Karim N,Khan I,Ahmad N,Umar MN,Gavande N, Pharmacol Rep. October 1, 2017; 69(5):1734-1140.
The Xenopus tadpole: An in vivo model to screen drugs favoring remyelination., Mannioui A,Vauzanges Q,Fini JB,Henriet E,Sekizar S,Azoyan L,Thomas JL,Pasquier DD,Giovannangeli C,Demeneix B,Lubetzki C,Zalc B, Mult Scler. October 1, 2018; 24(11):1477-0970.
The SLC2A14 gene, encoding the novel glucose/dehydroascorbate transporter GLUT14, is associated with inflammatory bowel disease., Amir Shaghaghi M,Zhouyao H,Tu H,El-Gabalawy H,Crow GH,Levine M,Bernstein CN,Eck P, Am J Clin Nutr. December 1, 2017; 106(6):0002-9165.
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery., Toriyama M,Lee C,Lee C,Lee C,Taylor SP,Duran I,Cohn DH,Bruel AL,Tabler JM,Drew K,Kelly MR,Kim S,Park TJ,Braun DA,Pierquin G,Biver A,Wagner K,Malfroot A,Panigrahi I,Franco B,Al-Lami HA,Yeung Y,Choi YJ,Duffourd Y,Faivre L,Rivière JB,Chen J,Liu KJ,Liu KJ,Marcotte EM,Hildebrandt F,Thauvin-Robinet C,Krakow D,Jackson PK,Wallingford JB, Nat Genet. June 1, 2016; 48(6):1546-1718.
Fanconi-Anemia-Associated Mutations Destabilize RAD51 Filaments and Impair Replication Fork Protection., Zadorozhny K,Sannino V,Beláň O,Mlčoušková J,Špírek M,Costanzo V,Krejčí L, Cell Rep. October 10, 2017; 21(2):2211-1247.
Angiopoietin-like 4 Is a Wnt Signaling Antagonist that Promotes LRP6 Turnover., Kirsch N,Chang LS,Koch S,Glinka A,Dolde C,Colozza G,Benitez MDJ,De Robertis EM,Niehrs C, Dev Cell. October 9, 2017; 43(1):1878-1551.
Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome., Johnston JJ,Lee C,Lee C,Lee C,Wentzensen IM,Parisi MA,Crenshaw MM,Sapp JC,Gross JM,Wallingford JB,Biesecker LG, Cold Spring Harb Mol Case Stud. July 1, 2017; 3(4):2373-2873.
The Sorting Nexin 3 Retromer Pathway Regulates the Cell Surface Localization and Activity of a Wnt-Activated Polycystin Channel Complex., Feng S,Streets AJ,Nesin V,Tran U,Nie H,Onopiuk M,Wessely O,Tsiokas L,Ong ACM, J Am Soc Nephrol. October 1, 2017; 28(10):1533-3450.
Development of GABAA Receptor Subtype-Selective Imidazobenzodiazepines as Novel Asthma Treatments., Forkuo GS,Guthrie ML,Yuan NY,Nieman AN,Kodali R,Jahan R,Stephen MR,Yocum GT,Treven M,Poe MM,Li G,Yu OB,Hartzler BD,Zahn NM,Ernst M,Emala CW,Stafford DC,Cook JM,Arnold LA, Mol Pharm. June 6, 2016; 13(6):1543-8392.
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features., Niturad CE,Lev D,Kalscheuer VM,Charzewska A,Schubert J,Lerman-Sagie T,Kroes HY,Oegema R,Traverso M,Specchio N,Lassota M,Chelly J,Bennett-Back O,Carmi N,Koffler-Brill T,Iacomino M,Trivisano M,Capovilla G,Striano P,Nawara M,Rzonca S,Fischer U,Bienek M,Jensen C,Hu H,Thiele H,Altmüller J,Krause R,May P,Becker F,Balling R,Biskup S,Haas SA,Nürnberg P,van Gassen KLI,Lerche H,Zara F,Maljevic S,Leshinsky-Silver E, Brain. November 1, 2017; 140(11):1460-2156.
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies., Masnada S,Hedrich UBS,Gardella E,Schubert J,Kaiwar C,Klee EW,Lanpher BC,Gavrilova RH,Synofzik M,Bast T,Gorman K,King MD,Allen NM,Conroy J,Ben Zeev B,Tzadok M,Korff C,Dubois F,Ramsey K,Narayanan V,Serratosa JM,Giraldez BG,Helbig I,Marsh E,O'Brien M,Bergqvist CA,Binelli A,Porter B,Zaeyen E,Horovitz DD,Wolff M,Marjanovic D,Caglayan HS,Arslan M,Pena SDJ,Sisodiya SM,Balestrini S,Syrbe S,Veggiotti P,Lemke JR,Møller RS,Lerche H,Rubboli G, Brain. September 1, 2017; 140(9):1460-2156.
A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy., Gururaj S,Palmer EE,Sheehan GD,Kandula T,Macintosh R,Ying K,Morris P,Tao J,Dias KR,Zhu Y,Dinger ME,Cowley MJ,Kirk EP,Roscioli T,Sachdev R,Duffey ME,Bye A,Bhattacharjee A, Cell Rep. October 24, 2017; 21(4):2211-1247.
Gain-of-function HCN2 variants in genetic epilepsy., Li M,Maljevic S,Phillips AM,Petrovski S,Hildebrand MS,Burgess R,Mount T,Zara F,Striano P,Schubert J,Thiele H,Nürnberg P,Wong M,Weisenberg JL,Thio LL,Lerche H,Scheffer IE,Berkovic SF,Petrou S,Reid CA, Hum Mutat. February 1, 2018; 39(2):1098-1004.
A proteomic analysis of LRRK2 binding partners reveals interactions with multiple signaling components of the WNT/PCP pathway., Salašová A,Yokota C,Potěšil D,Zdráhal Z,Bryja V,Arenas E, Mol Neurodegener. July 11, 2017; 12(1):1750-1326.
Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147., Stäubli A,Capatina N,Fuhrer Y,Munier FL,Labs S,Schorderet DF,Tiwari A,Verrey F,Heon E,Cheng CY,Wong TY,Berger W,Camargo SMR,Kloeckener-Gruissem B, Hum Mol Genet. November 1, 2017; 26(21):1460-2083.
An interspecies heart-to-heart: Using Xenopus to uncover the genetic basis of congenital heart disease., Garfinkel AM,Khokha MK, Curr Pathobiol Rep. June 1, 2017; 5(2):2167-485X.
On the effect of hyperaldosteronism-inducing mutations in Na/K pumps., Meyer DJ,Gatto C,Artigas P, J Gen Physiol. November 6, 2017; 149(11):1540-7748.
Identification of Isthmin 1 as a Novel Clefting and Craniofacial Patterning Gene in Humans., Lansdon LA,Darbro BW,Petrin AL,Hulstrand AM,Standley JM,Brouillette RB,Long A,Mansilla MA,Cornell RA,Murray JC,Houston DW,Manak JR, Genetics. January 1, 2018; 208(1):1943-2631.
Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy., McTague A,Nair U,Malhotra S,Meyer E,Trump N,Gazina EV,Papandreou A,Ngoh A,Ackermann S,Ambegaonkar G,Appleton R,Desurkar A,Eltze C,Kneen R,Kumar AV,Lascelles K,Montgomery T,Ramesh V,Samanta R,Scott RH,Tan J,Whitehouse W,Poduri A,Scheffer IE,Chong WKK,Cross JH,Topf M,Petrou S,Kurian MA, Neurology. January 2, 2018; 90(1):1526-632X.
Pro-arrhythmogenic Effects of the V141M KCNQ1 Mutation in Short QT Syndrome and Its Potential Therapeutic Targets: Insights from Modeling., Lee HC,Lee HC,Rudy Y,Liang H,Chen CC,Luo CH,Sheu SH,Cui J, J Med Biol Eng. October 1, 2017; 37(5):1609-0985.
Genome-wide transcriptomics analysis identifies sox7 and sox18 as specifically regulated by gata4 in cardiomyogenesis., Afouda BA,Lynch AT,de Paiva Alves E,Hoppler S, Dev Biol. February 1, 2018; 434(1):1095-564X.
Functional Reintegration of Sensory Neurons and Transitional Dendritic Reduction of Mitral/Tufted Cells during Injury-Induced Recovery of the Larval Xenopus Olfactory Circuit., Hawkins SJ,Weiss L,Offner T,Dittrich K,Hassenklöver T,Manzini I, Front Cell Neurosci. July 21, 2017; 11:1662-5102.
Anosmin-1 is essential for neural crest and cranial placodes formation in Xenopus., Bae CJ,Hong CS,Saint-Jeannet JP, Biochem Biophys Res Commun. January 15, 2018; 495(3):1090-2104.
Ketamine Modulates Zic5 Expression via the Notch Signaling Pathway in Neural Crest Induction., Shi Y,Shi Y,Li J,Chen C,Xia Y,Li Y,Zhang P,Xu Y,Xu Y,Li T,Zhou W,Song W, Front Mol Neurosci. February 7, 2018; 11:1662-5099.
Polycystin 1 loss of function is directly linked to an imbalance in G-protein signaling in the kidney., Zhang B,Tran U,Wessely O, Development. March 22, 2018; 145(6):1477-9129.
Effects of trimethoprim-sulfadiazine and detomidine on the function of equine Kv 11.1 channels in a two-electrode voltage-clamp (TEVC) oocyte model., Trachsel DS,Tejada MA,Groesfjeld Christensen V,Pedersen PJ,Kanters JK,Buhl R,Calloe K,Klaerke DA, J Vet Pharmacol Ther. August 1, 2018; 41(4):1365-2885.
Targeted deletion of the aquaglyceroporin AQP9 is protective in a mouse model of Parkinson's disease., Stahl K,Rahmani S,Prydz A,Skauli N,MacAulay N,Mylonakou MN,Torp R,Skare Ø,Berg T,Leergaard TB,Paulsen RE,Ottersen OP,Amiry-Moghaddam M, PLoS One. January 1, 2018; 13(3):1932-6203.
Functional variants in HCN4 and CACNA1H may contribute to genetic generalized epilepsy., Becker F,Reid CA,Hallmann K,Tae HS,Phillips AM,Teodorescu G,Weber YG,Kleefuss-Lie A,Elger C,Perez-Reyes E,Petrou S,Kunz WS,Lerche H,Maljevic S, Epilepsia Open. August 5, 2017; 2(3):2470-9239.
Unexplained cardiac arrest: a tale of conflicting interpretations of KCNQ1 genetic test results., Chua HC,Servatius H,Asatryan B,Schaller A,Rieubland C,Noti F,Seiler J,Roten L,Baldinger SH,Tanner H,Fuhrer J,Haeberlin A,Lam A,Pless SA,Medeiros-Domingo A, Clin Res Cardiol. August 1, 2018; 107(8):1861-0692.
The Effects of 4-Hydroxybenzoic Acid Identified from Bamboo (Dendrocalamus asper) Shoots on Kv1.4 Channel., Zhang J,Mohamad FH,Wong JH,Mohamad H,Ismail AH,Mohamed Yusoff AA,Osman H,Wong KT,Idris Z,Abdullah JM, Malays J Med Sci. February 1, 2018; 25(1):1394-195X.
Identification of a cono-RFamide from the venom of Conus textile that targets ASIC3 and enhances muscle pain., Reimers C,Lee CH,Lee CH,Lee CH,Kalbacher H,Tian Y,Hung CH,Schmidt A,Prokop L,Kauferstein S,Mebs D,Chen CC,Gründer S, Proc Natl Acad Sci U S A. April 25, 2017; 114(17):1091-6490.
Unexpected metabolic disorders induced by endocrine disruptors in Xenopus tropicalis provide new lead for understanding amphibian decline., Regnault C,Usal M,Veyrenc S,Couturier K,Batandier C,Bulteau AL,Lejon D,Sapin A,Combourieu B,Chetiveaux M,Le May C,Lafond T,Raveton M,Reynaud S, Proc Natl Acad Sci U S A. May 8, 2018; 115(19):1091-6490.
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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.
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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.
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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.
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ΔN-Tp63 Mediates Wnt/β-Catenin-Induced Inhibition of Differentiation in Basal Stem Cells of Mucociliary Epithelia., Haas M,Gómez Vázquez JL,Sun DI,Tran HT,Brislinger M,Tasca A,Shomroni O,Vleminckx K,Vleminckx K,Walentek P, Cell Rep. September 24, 2019; 28(13):2211-1247.
Analyses of epithelial Na+ channel variants reveal that an extracellular β-ball domain critically regulates ENaC gating., Wang X,Chen J,Shi S,Sheng S,Kleyman TR, J Biol Chem. November 8, 2019; 294(45):1083-351X.
BAP1 regulates epigenetic switch from pluripotency to differentiation in developmental lineages giving rise to BAP1-mutant cancers., Kuznetsov JN,Aguero TH,Owens DA,Kurtenbach S,Field MG,Durante MA,Rodriguez DA,King ML,Harbour JW, Sci Adv. September 18, 2019; 5(9):2375-2548.
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Functional genomics of epilepsy-associated mutations in the GABAA receptor subunits reveal that one mutation impairs function and two are catastrophic., Absalom NL,Ahring PK,Liao VW,Balle T,Jiang T,Anderson LL,Arnold JC,McGregor IS,Bowen MT,Chebib M, J Biol Chem. April 12, 2019; 294(15):1083-351X.
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Quantitative Phenotyping of Xenopus Embryonic Heart Pathophysiology Using Hemoglobin Contrast Subtraction Angiography to Screen Human Cardiomyopathies., Deniz E,Jonas S,Khokha MK,Choma MA, Front Physiol. January 1, 2019; 10:1664-042X.
Volume sensing in the transient receptor potential vanilloid 4 ion channel is cell type-specific and mediated by an N-terminal volume-sensing domain., Toft-Bertelsen TL,Yarishkin O,Redmon S,Phuong TTT,Križaj D,MacAulay N, J Biol Chem. November 29, 2019; 294(48):1083-351X.
Identification of Drivers of Aneuploidy in Breast Tumors., Pfister K,Pipka JL,Chiang C,Liu Y,Clark RA,Keller R,Skoglund P,Guertin MJ,Hall IM,Stukenberg PT, Cell Rep. May 29, 2018; 23(9):2211-1247.
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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.
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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.
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.
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.
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.
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.
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.
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.
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.
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.
Loss-of-function variants in Kv 11.1 cardiac channels as a biomarker for SUDEP., Soh MS,Bagnall RD,Bennett MF,Bleakley LE,Mohamed Syazwan ES,Phillips AM,Chiam MDF,McKenzie CE,Hildebrand M,Crompton D,Bahlo M,Semsarian C,Scheffer IE,Berkovic SF,Reid CA, Ann Clin Transl Neurol. July 1, 2021; 8(7):2328-9503.
Reconstitution of β-adrenergic regulation of CaV1.2: Rad-dependent and Rad-independent protein kinase A mechanisms., Katz M,Subramaniam S,Chomsky-Hecht O,Tsemakhovich V,Flockerzi V,Klussmann E,Hirsch JA,Weiss S,Dascal N, Proc Natl Acad Sci U S A. May 25, 2021; 118(21):1091-6490.
Anaplastic lymphoma kinase (alk), a neuroblastoma associated gene, is expressed in neural crest domains during embryonic development of Xenopus., Moreno MM,Barrell WB,Godwin A,Guille M,Liu KJ,Liu KJ, Gene Expr Patterns. June 1, 2021; 40:1567-133X.
Modeling endoderm development and disease in Xenopus., Edwards NA,Zorn AM, Curr Top Dev Biol. January 1, 2021; 145:1557-8933.
Protein phosphatase 2A holoenzymes regulate leucine-rich repeat kinase 2 phosphorylation and accumulation., Drouyer M,Bolliger MF,Lobbestael E,Van den Haute C,Emanuele M,Lefebvre R,Sibran W,De Wit T,Leghay C,Mutez E,Dzamko N,Halliday GM,Murayama S,Martoriati A,Cailliau K,Bodart JF,Chartier-Harlin MC,Baekelandt V,Nichols RJ,Taymans JM, Neurobiol Dis. September 1, 2021; 157:1095-953X.
Fosl1 is vital to heart regeneration upon apex resection in adult Xenopus tropicalis., Wu HY,Zhou YM,Liao ZQ,Zhong JW,Liu YB,Zhao H,Liang CQ,Huang RJ,Park KS,Feng SS,Zheng L,Cai DQ,Qi XF, NPJ Regen Med. June 29, 2021; 6(1):2057-3995.
Tau, XMAP215/Msps and Eb1 co-operate interdependently to regulate microtubule polymerisation and bundle formation in axons., Hahn I,Voelzmann A,Parkin J,Fülle JB,Slater PG,Lowery LA,Sanchez-Soriano N,Prokop A, PLoS Genet. July 1, 2021; 17(7):1553-7404.
Recurrent seizure-related GRIN1 variant: Molecular mechanism and targeted therapy., Xu Y,Xu Y,Song R,Chen W,Strong K,Shrey D,Gedela S,Traynelis SF,Zhang G,Yuan H, Ann Clin Transl Neurol. July 1, 2021; 8(7):2328-9503.
A polycystin-2 protein with modified channel properties leads to an increased diameter of renal tubules and to renal cysts., Grosch M,Brunner K,Ilyaskin AV,Schober M,Staudner T,Schmied D,Stumpp T,Schmidt KN,Madej MG,Pessoa TD,Othmen H,Kubitza M,Osten L,de Vries U,Mair MM,Somlo S,Moser M,Kunzelmann K,Ziegler C,Haerteis S,Korbmacher C,Witzgall R, J Cell Sci. August 15, 2021; 134(16):1477-9137.
A convergent molecular network underlying autism and congenital heart disease., Rosenthal SB,Willsey HR,Xu Y,Xu Y,Mei Y,Dea J,Wang S,Curtis C,Sempou E,Khokha MK,Chi NC,Willsey AJ,Fisch KM,Ideker T, Cell Syst. November 17, 2021; 12(11):2405-4720.
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.
Influence of Sox protein SUMOylation on neural development and regeneration., Chang KC, Neural Regen Res. March 1, 2022; 17(3):1673-5374.
Conserved role of the urotensin II receptor 4 signalling pathway to control body straightness in a tetrapod., Alejevski F,Leemans M,Gaillard AL,Leistenschneider D,de Flori C,Bougerol M,Le Mével S,Herrel A,Fini JB,Pézeron G,Tostivint H, Open Biol. August 1, 2021; 11(8):2046-2441.
A role for zinc transporter gene SLC39A12 in the nervous system and beyond., Davis DN,Strong MD,Chambers E,Hart MD,Bettaieb A,Clarke SL,Smith BJ,Stoecker BJ,Lucas EA,Lin D,Chowanadisai W, Gene. October 5, 2021; 799:1879-0038.
Crosstalk between repair pathways elicits double-strand breaks in alkylated DNA and implications for the action of temozolomide., Fuchs RP,Isogawa A,Paulo JA,Onizuka K,Takahashi T,Amunugama R,Duxin JP,Fujii S, Elife. July 8, 2021; 10:2050-084X.
KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity., Pavinato L,Nematian-Ardestani E,Zonta A,De Rubeis S,Buxbaum J,Mancini C,Bruselles A,Tartaglia M,Pessia M,Tucker SJ,D'Adamo MC,Brusco A, Int J Mol Sci. June 4, 2021; 22(11):1422-0067.
Weight of Evidence and Human Relevance Evaluation of the Benfluralin Mode of Action in Rats (Part II): Thyroid carcinogenesis., Strupp C,Quesnot N,Weber-Parmentier C,Richert L,Bomann WH,Singh P, Regul Toxicol Pharmacol. November 1, 2020; 117:1096-0295.
GlyT1 encephalopathy: Characterization of presumably disease causing GlyT1 mutations., Hauf K,Barsch L,Bauer D,Buchert R,Armbruster A,Frauenfeld L,Grasshoff U,Eulenburg V, Neurochem Int. October 1, 2020; 139:1872-9754.
Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity., Lazarov E,Hillebrand M,Schröder S,Ternka K,Hofhuis J,Ohlenbusch A,Barrantes-Freer A,Pardo LA,Fruergaard MU,Nissen P,Brockmann K,Gärtner J,Rosewich H, Neurobiol Dis. September 1, 2020; 143:1095-953X.
Mechanosensitive TREK-1 two-pore-domain potassium (K2P) channels in the cardiovascular system., Wiedmann F,Rinné S,Donner B,Decher N,Katus HA,Schmidt C, Prog Biophys Mol Biol. January 1, 2021; 159:1873-1732.
Discovery of Dihydropyrrolo[1,2-a]pyrazin-3(4H)-one-Based Second-Generation GluN2C- and GluN2D-Selective Positive Allosteric Modulators (PAMs) of the N-Methyl-d-Aspartate (NMDA) Receptor., Epplin MP,Mohan A,Harris LD,Zhu Z,Strong KL,Bacsa J,Le P,Menaldino DS,Traynelis SF,Liotta DC, J Med Chem. July 23, 2020; 63(14):1520-4804.
Function of chromatin modifier Hmgn1 during neural crest and craniofacial development., Ihewulezi C,Saint-Jeannet JP, Genesis. October 1, 2021; 59(10):1526-968X.
Biochemical and developmental effects of thyroid and anti-thyroid drugs on different early life stages of Xenopus laevis., Boran F,Güngördü A, Environ Toxicol Pharmacol. October 1, 2021; 87:1872-7077.
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.
Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease., Getwan M,Hoppmann A,Schlosser P,Grand K,Song W,Diehl R,Schroda S,Heeg F,Deutsch K,Hildebrandt F,Lausch E,Köttgen A,Lienkamp SS, Proc Natl Acad Sci U S A. September 28, 2021; 118(39):1091-6490.
Characterization of a Compound Heterozygous SLC2A9 Mutation That Causes Hypouricemia., Yoon J,Cachau R,David VA,Thompson M,Jung W,Jee SH,Daar IO,Winkler CA,Cho SK, Biomedicines. September 6, 2021; 9(9):2227-9059.
The Role of RNA-Binding Proteins in Vertebrate Neural Crest and Craniofacial Development., Forman TE,Dennison BJC,Fantauzzo KA, J Dev Biol. August 27, 2021; 9(3):2221-3759.
Physical basis for distinct basal and mechanically gated activity of the human K+ channel TRAAK., Rietmeijer RA,Sorum B,Li B,Brohawn SG, Neuron. September 15, 2021; 109(18):0896-6273.
Structural comparison of GLUT1 to GLUT3 reveal transport regulation mechanism in sugar porter family., Custódio TF,Paulsen PA,Frain KM,Pedersen BP, Life Sci Alliance. February 3, 2021; 4(4):2575-1077.
Teriflunomide Promotes Oligodendroglial 8,9-Unsaturated Sterol Accumulation and CNS Remyelination., Martin E,Aigrot MS,Lamari F,Bachelin C,Lubetzki C,Nait Oumesmar B,Zalc B,Stankoff B, Neurol Neuroimmunol Neuroinflamm. November 1, 2021; 8(6):2332-7812.
Translocation of TMEM175 Lysosomal Potassium Channel to the Plasma Membrane by Dynasore Compounds., Pergel E,Veres I,Csigi GI,Czirják G, Int J Mol Sci. September 29, 2021; 22(19):1422-0067.
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.
Generation of a new six1-null line in Xenopus tropicalis for study of development and congenital disease., Coppenrath K,Tavares ALP,Shaidani NI,Wlizla M,Moody SA,Horb M, Genesis. December 1, 2021; 59(12):1526-968X.
A novel I551F variant of the Na+/HCO3- cotransporter NBCe1-A shows reduced cell surface expression, resulting in diminished transport activity., Yamazaki O,Yamashita M,Li J,Ochiai-Homma F,Yoshida T,Hirahashi J,Furukawa T,Kozuma K,Fujigaki Y,Seki G,Hayashi M,Shibata S, Am J Physiol Renal Physiol. December 1, 2021; 321(6):1522-1466.
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.
Deep learning is widely applicable to phenotyping embryonic development and disease., Naert T,Çiçek Ö,Ogar P,Bürgi M,Shaidani NI,Kaminski MM,Xu Y,Xu Y,Grand K,Vujanovic M,Prata D,Hildebrandt F,Brox T,Ronneberger O,Voigt FF,Helmchen F,Loffing J,Horb ME,Willsey HR,Lienkamp SS, Development. November 1, 2021; 148(21):1477-9129.
Kv3.1 channelopathy: a novel loss-of-function variant and the mechanistic basis of its clinical phenotypes., Li X,Zheng Y,Li S,Nair U,Sun C,Zhao C,Lu J,Zhang VW,Maljevic S,Petrou S,Lin J, Ann Transl Med. September 1, 2021; 9(18):2305-5839.
Molecular mechanisms underlying enhanced hemichannel function of a cataract-associated Cx50 mutant., Tong JJ,Khan U,Haddad BG,Minogue PJ,Beyer EC,Berthoud VM,Reichow SL,Ebihara L, Biophys J. December 21, 2021; 120(24):1542-0086.
Virus-Host Interactions of Enteroviruses and Parvovirus B19 in Myocarditis., Ho HT,Peischard S,Strutz-Seebohm N,Seebohm G, Cell Physiol Biochem. November 18, 2021; 55(6):1421-9778.
Ion permeation controlled by hydrophobic residues and proton binding in the proton-activated chloride channel., Cai R,Tang J,Chen XZ, iScience. November 1, 2021; 24(12):2589-0042.
Frequent SLC12A3 mutations in Chinese Gitelman syndrome patients: structure and function disorder., Jiang L,Peng X,Zhao B,Zhang L,Xu L,Li X,Nie M,Chen L, Endocr Connect. January 27, 2022; 11(1):2049-3614.
Proteolytic activation of the epithelial sodium channel (ENaC) by factor VII activating protease (FSAP) and its relevance for sodium retention in nephrotic mice., Artunc F,Bohnert BN,Schneider JC,Staudner T,Sure F,Ilyaskin AV,Wörn M,Essigke D,Janessa A,Nielsen NV,Birkenfeld AL,Etscheid M,Haerteis S,Korbmacher C,Kanse SM, Pflugers Arch. February 1, 2022; 474(2):1432-2013.
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.
Functional cross-talk between phosphorylation and disease-causing mutations in the cardiac sodium channel Nav1.5., Galleano I,Harms H,Choudhury K,Khoo K,Delemotte L,Pless SA, Proc Natl Acad Sci U S A. August 17, 2021; 118(33):1091-6490.
The Ubiquitin Ligase TRAIP: Double-Edged Sword at the Replisome., Wu RA,Pellman DS,Walter JC, Trends Cell Biol. February 1, 2021; 31(2):1879-3088.
A revised mechanism of action of hyperaldosteronism-linked mutations in cytosolic domains of GIRK4 (KCNJ5)., Shalomov B,Handklo-Jamal R,Reddy HP,Theodor N,Bera AK,Dascal N, J Physiol. March 1, 2022; 600(6):0022-3751.
Uncoupling the BMP receptor antagonist function from the WNT agonist function of R-spondin 2 using the inhibitory peptide dendrimer RWd., Lee H,Lee H,Sun R,Niehrs C, J Biol Chem. February 1, 2022; 298(2):1083-351X.
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.
16p12.1 Deletion Orthologs are Expressed in Motile Neural Crest Cells and are Important for Regulating Craniofacial Development in Xenopus laevis., Lasser M,Bolduc J,Murphy L,O'Brien C,Lee S,Girirajan S,Lowery LA, Front Genet. January 1, 2022; 13:1664-8021.
Reduced Retinoic Acid Signaling During Gastrulation Induces Developmental Microcephaly., Gur M,Bendelac-Kapon L,Shabtai Y,Pillemer G,Fainsod A, Front Cell Dev Biol. January 1, 2022; 10:2296-634X.
CRISPR/Cas9-Mediated Models of Retinitis Pigmentosa Reveal Differential Proliferative Response of Müller Cells between Xenopus laevis and Xenopus tropicalis., Parain K,Lourdel S,Donval A,Chesneau A,Borday C,Bronchain O,Locker M,Perron M, Cells. February 25, 2022; 11(5):2073-4409.
Pharmacological characterization of a novel negative allosteric modulator of NMDA receptors, UBP792., Sapkota K,Burnell ES,Irvine MW,Fang G,Gawande DY,Dravid SM,Jane DE,Monaghan DT, Neuropharmacology. December 15, 2021; 201:1873-7064.
Multistep mechanism of G-quadruplex resolution during DNA replication., Sato K,Martin-Pintado N,Post H,Altelaar M,Knipscheer P, Sci Adv. September 24, 2021; 7(39):2375-2548.
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.
Inhibition of the Aquaporin-1 Cation Conductance by Selected Furan Compounds Reduces Red Blood Cell Sickling., Chow PH,Cox CD,Pei JV,Anabaraonye N,Nourmohammadi S,Henderson SW,Martinac B,Abdulmalik O,Yool AJ, Front Pharmacol. October 1, 2021; 12:1663-9812.
A transepithelial pathway delivers succinate to macrophages, thus perpetuating their pro-inflammatory metabolic state., Fremder M,Kim SW,Khamaysi A,Shimshilashvili L,Eini-Rider H,Park IS,Hadad U,Cheon JH,Ohana E, Cell Rep. August 10, 2021; 36(6):2211-1247.
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.
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.
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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.
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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.
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.
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.
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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.
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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.
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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.
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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.
Alcohol induces neural tube defects by reducing retinoic acid signaling and promoting neural plate expansion., Edri T,Cohen D,Shabtai Y,Fainsod A, Front Cell Dev Biol. January 1, 2023; 11:2296-634X.
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A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus., Singh AK,Allington G,Viviano S,McGee S,Kiziltug E,Ma S,Zhao S,Mekbib KY,Shohfi JP,Duy PQ,DeSpenza T,Furey CG,Reeves BC,Smith H,Sousa AMM,Cherskov A,Allocco A,Nelson-Williams C,Haider S,Rizvi SRA,Alper SL,Sestan N,Shimelis H,Walsh LK,Lifton RP,Moreno-De-Luca A,Jin SC,Kruszka P,Deniz E,Kahle KT, Brain. April 4, 2024; 147(4):1460-2156.
Genetic models of fibrillinopathies., Summers KM, Genetics. January 3, 2024; 226(1):1943-2631.
SMC5 Plays Independent Roles in Congenital Heart Disease and Neurodevelopmental Disability., O'Brien MP,Pryzhkova MV,Lake EMR,Mandino F,Shen X,Karnik R,Atkins A,Xu MJ,Ji W,Konstantino M,Brueckner M,Ment LR,Khokha MK,Jordan PW, Int J Mol Sci. December 28, 2023; 25(1):1422-0067.
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Cannabidiol Strengthening of Gastric Tight Junction Complexes Analyzed in an Improved Xenopus Oocyte Assay., Stein L,Vollstaedt ML,Amasheh S, Membranes (Basel). January 8, 2024; 14(1):2077-0375.
Novel insights into voltage-gated ion channels: Translational breakthroughs in medical oncology., Sakellakis M,Yoon SM,Reet J,Chalkias A, Channels (Austin). December 1, 2024; 18(1):1933-6969.
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