Summary Literature (236)

Xenbase Articles :
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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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Pallister-Hall syndrome phenotype in mice mutant for Gli3., Böse J,Grotewold L,Rüther U, Hum Mol Genet. May 1, 2002; 11(9):1460-2083.

Hedgehog signaling in gastrointestinal development and disease., Harmon EB,Ko AH,Kim SK, Curr Mol Med. February 1, 2002; 2(1):1875-5666.

Human disease-causing NOG missense mutations: effects on noggin secretion, dimer formation, and bone morphogenetic protein binding., Marcelino J,Sciortino CM,Romero MF,Ulatowski LM,Ballock RT,Economides AN,Eimon PM,Harland RM,Warman ML, Proc Natl Acad Sci U S A. September 25, 2001; 98(20):1091-6490.

Rapid functional analysis in Xenopus oocytes of Po protein adhesive interactions., Yoshida M,Colma DR, Neurochem Res. June 1, 2001; 26(6):1573-6903.

Novel characteristics of a misprocessed mutant HERG channel linked to hereditary long QT syndrome., Ficker E,Thomas D,Viswanathan PC,Dennis AT,Priori SG,Napolitano C,Memmi M,Wible BA,Kaufman ES,Iyengar S,Schwartz PJ,Rudy Y,Brown AM, Am J Physiol Heart Circ Physiol. October 1, 2000; 279(4):0363-6135.

A constitutively open potassium channel formed by KCNQ1 and KCNE3., Schroeder BC,Waldegger S,Fehr S,Bleich M,Warth R,Greger R,Jentsch TJ, Nature. January 13, 2000; 403(6766):0143-5221.

Signal transduction. Mating, channels and kidney cysts., Emmons SW,Somlo S, Nature. September 23, 1999; 401(6751):0143-5221.

Transcription repression by Xenopus ET and its human ortholog TBX3, a gene involved in ulnar-mammary syndrome., He Ml,Wen L,Campbell CE,Wu JY,Rao Y, Proc Natl Acad Sci U S A. August 31, 1999; 96(18):1091-6490.

Stilbenes and fenamates rescue the loss of I(KS) channel function induced by an LQT5 mutation and other IsK mutants., Abitbol I,Peretz A,Lerche C,Busch AE,Attali B, EMBO J. August 2, 1999; 18(15):0261-4189.

The capsaicin receptor: a heat-activated ion channel in the pain pathway., Caterina MJ,Schumacher MA,Tominaga M,Rosen TA,Levine JD,Julius D, Nature. October 23, 1997; 389(6653):0143-5221.

Point mutations in human GLI3 cause Greig syndrome., Wild A,Kalff-Suske M,Vortkamp A,Bornholdt D,König R,Grzeschik KH, Hum Mol Genet. October 1, 1997; 6(11):1460-2083.

The cloning of extracellular Ca(2+)-sensing receptors from parathyroid and kidney: molecular mechanisms of extracellular Ca(2+)-sensing., Brown EM,Pollak M,Chou YH,Seidman CE,Seidman JG,Hebert SC, J Nutr. July 1, 1995; 125(7 Suppl):1541-6100.

Cloning and expression of the beta- and gamma-subunits of the human epithelial sodium channel., McDonald FJ,Price MP,Snyder PM,Welsh MJ, Am J Physiol. May 1, 1995; 268(5 Pt 1):0002-9513.

Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein., Shoulders CC,Brett DJ,Bayliss JD,Narcisi TM,Jarmuz A,Grantham TT,Leoni PR,Bhattacharya S,Pease RJ,Cullen PM, Hum Mol Genet. December 1, 1993; 2(12):1460-2083.

A novel neutrophil elastase inhibitor prevents elastase activation and surface cleavage of the epithelial sodium channel expressed in Xenopus laevis oocytes., Harris M,Firsov D,Vuagniaux G,Stutts MJ,Rossier BC, J Biol Chem. January 5, 2007; 282(1):1083-351X.

Bone density ligand, Sclerostin, directly interacts with LRP5 but not LRP5G171V to modulate Wnt activity., Ellies DL,Viviano B,McCarthy J,Rey JP,Itasaki N,Saunders S,Krumlauf R, J Bone Miner Res. November 1, 2006; 21(11):0884-0431.

NIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter., Goytain A,Hines RM,El-Husseini A,Quamme GA, J Biol Chem. March 16, 2007; 282(11):1083-351X.

FoxM1: at the crossroads of ageing and cancer., Laoukili J,Stahl M,Medema RH, Biochim Biophys Acta. January 1, 2007; 1775(1):0006-3002.

Aminoaciduria and altered renal expression of luminal amino acid transporters in mice lacking novel gene collectrin., Malakauskas SM,Quan H,Fields TA,McCall SJ,Yu MJ,Kourany WM,Frey CW,Le TH, Am J Physiol Renal Physiol. February 1, 2007; 292(2):1522-1466.

Mechanistic basis for the pathogenesis of long QT syndrome associated with a common splicing mutation in KCNQ1 gene., Tsuji K,Akao M,Ishii TM,Ohno S,Makiyama T,Takenaka K,Doi T,Haruna Y,Yoshida H,Nakashima T,Kita T,Horie M, J Mol Cell Cardiol. March 1, 2007; 42(3):1095-8584.

Regulatory interaction between CFTR and the SLC26 transporters., Shcheynikov N,Ko SB,Zeng W,Choi JY,Dorwart MR,Thomas PJ,Muallem S, Novartis Found Symp. January 1, 2006; 273:1528-2511.

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia., Bergmann C,Fliegauf M,Brüchle NO,Frank V,Olbrich H,Kirschner J,Schermer B,Schmedding I,Kispert A,Kränzlin B,Nürnberg G,Becker C,Grimm T,Girschick G,Lynch SA,Kelehan P,Senderek J,Neuhaus TJ,Stallmach T,Zentgraf H,Nürnberg P,Gretz N,Lo C,Lienkamp S,Schäfer T,Walz G,Benzing T,Zerres K,Omran H, Am J Hum Genet. April 1, 2008; 82(4):1537-6605.

Transcription factor HNF1beta and novel partners affect nephrogenesis., Dudziak K,Mottalebi N,Senkel S,Edghill EL,Rosengarten S,Roose M,Bingham C,Ellard S,Ryffel GU, Kidney Int. July 1, 2008; 74(2):1523-1755.

Small molecule activator of the human epithelial sodium channel., Lu M,Echeverri F,Kalabat D,Laita B,Dahan DS,Smith RD,Xu H,Staszewski L,Yamamoto J,Ling J,Hwang N,Kimmich R,Li P,Patron E,Keung W,Patron A,Moyer BD, J Biol Chem. May 2, 2008; 283(18):1083-351X.

Biophysical properties of zebrafish ether-à-go-go related gene potassium channels., Scholz EP,Niemer N,Hassel D,Zitron E,Bürgers HF,Bloehs R,Seyler C,Scherer D,Thomas D,Kathöfer S,Katus HA,Rottbauer WA,Karle CA, Biochem Biophys Res Commun. April 3, 2009; 381(2):1090-2104.

Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations., Bockenhauer D,Feather S,Stanescu HC,Bandulik S,Zdebik AA,Reichold M,Tobin J,Lieberer E,Sterner C,Landoure G,Arora R,Sirimanna T,Thompson D,Cross JH,van't Hoff W,Al Masri O,Tullus K,Yeung S,Anikster Y,Klootwijk E,Hubank M,Dillon MJ,Heitzmann D,Arcos-Burgos M,Knepper MA,Dobbie A,Gahl WA,Warth R,Sheridan E,Kleta R, N Engl J Med. May 7, 2009; 360(19):1533-4406.

Influence of lamin A on the mechanical properties of amphibian oocyte nuclei measured by atomic force microscopy., Schäpe J,Prausse S,Radmacher M,Stick R, Biophys J. May 20, 2009; 96(10):1542-0086.

Reduced levels of survival motor neuron protein leads to aberrant motoneuron growth in a Xenopus model of muscular atrophy., Ymlahi-Ouazzani Q,J Bronchain O,Paillard E,Ballagny C,Chesneau A,Jadaud A,Mazabraud A,Pollet N, Neurogenetics. February 1, 2010; 11(1):1364-6745.

Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome., Yang T,Gurrola JG,Wu H,Chiu SM,Wangemann P,Snyder PM,Smith RJ, Am J Hum Genet. May 1, 2009; 84(5):1537-6605.

Slc26a9 is inhibited by the R-region of the cystic fibrosis transmembrane conductance regulator via the STAS domain., Chang MH,Plata C,Sindic A,Ranatunga WK,Chen AP,Zandi-Nejad K,Chan KW,Thompson J,Mount DB,Romero MF, J Biol Chem. October 9, 2009; 284(41):1083-351X.

Mutations in PYCR1 cause cutis laxa with progeroid features., Reversade B,Escande-Beillard N,Dimopoulou A,Fischer B,Chng SC,Li Y,Shboul M,Tham PY,Kayserili H,Al-Gazali L,Shahwan M,Brancati F,Lee H,Lee H,O'Connor BD,Schmidt-von Kegler M,Merriman B,Nelson SF,Masri A,Alkazaleh F,Guerra D,Ferrari P,Nanda A,Rajab A,Markie D,Gray M,Nelson J,Grix A,Sommer A,Savarirayan R,Janecke AR,Steichen E,Sillence D,Hausser I,Budde B,Nürnberg G,Nürnberg P,Seemann P,Kunkel D,Zambruno G,Dallapiccola B,Schuelke M,Robertson S,Hamamy H,Wollnik B,Van Maldergem L,Mundlos S,Kornak U, Nat Genet. September 1, 2009; 41(9):1546-1718.

Vestibular asymmetry as the cause of idiopathic scoliosis: a possible answer from Xenopus., Lambert FM,Malinvaud D,Glaunès J,Bergot C,Straka H,Vidal PP, J Neurosci. October 7, 2009; 29(40):1529-2401.

Lessons from the lily pad: Using Xenopus to understand heart disease., Bartlett HL,Weeks DL, Drug Discov Today Dis Models. January 1, 2008; 5(3):1740-6757.

The hydrolethalus syndrome protein HYLS-1 links core centriole structure to cilia formation., Dammermann A,Pemble H,Mitchell BJ,McLeod I,Yates JR,Kintner C,Desai AB,Oegema K, Genes Dev. September 1, 2009; 23(17):1549-5477.

A recombinant N-terminal domain fully restores deactivation gating in N-truncated and long QT syndrome mutant hERG potassium channels., Gustina AS,Trudeau MC, Proc Natl Acad Sci U S A. August 4, 2009; 106(31):1091-6490.

EYA1 mutations associated with the branchio-oto-renal syndrome result in defective otic development in Xenopus laevis., Li Y,Manaligod JM,Weeks DL, Biol Cell. February 17, 2010; 102(5):1768-322X.

The target of the NSD family of histone lysine methyltransferases depends on the nature of the substrate., Li Y,Trojer P,Xu CF,Cheung P,Kuo A,Drury WJ,Qiao Q,Neubert TA,Xu RM,Gozani O,Reinberg D, J Biol Chem. December 4, 2009; 284(49):1083-351X.

GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf., Tekin M,Xia XJ,Erdenetungalag R,Cengiz FB,White TW,Radnaabazar J,Dangaasuren B,Tastan H,Nance WE,Pandya A, Ann Hum Genet. March 1, 2010; 74(2):1469-1809.

Basolateral Cl- uptake mechanisms in Xenopus laevis lung epithelium., Berger J,Hardt M,Clauss WG,Fronius M, Am J Physiol Regul Integr Comp Physiol. July 1, 2010; 299(1):1522-1490.

Planar cell polarity acts through septins to control collective cell movement and ciliogenesis., Kim SK,Shindo A,Park TJ,Oh EC,Ghosh S,Gray RS,Lewis RA,Johnson CA,Attie-Bittach T,Katsanis N,Wallingford JB, Science. September 10, 2010; 329(5997):1095-9203.

Polycystin-2 activity is controlled by transcriptional coactivator with PDZ binding motif and PALS1-associated tight junction protein., Duning K,Rosenbusch D,Schlüter MA,Tian Y,Kunzelmann K,Meyer N,Schulze U,Markoff A,Pavenstädt H,Weide T, J Biol Chem. October 29, 2010; 285(44):1083-351X.

Shox2 mediates Tbx5 activity by regulating Bmp4 in the pacemaker region of the developing heart., Puskaric S,Schmitteckert S,Mori AD,Glaser A,Schneider KU,Bruneau BG,Blaschke RJ,Steinbeisser H,Rappold G, Hum Mol Genet. December 1, 2010; 19(23):1460-2083.

Neurological disease mutations compromise a C-terminal ion pathway in the Na(+)/K(+)-ATPase., Poulsen H,Khandelia H,Morth JP,Bublitz M,Mouritsen OG,Egebjerg J,Nissen P, Nature. September 2, 2010; 467(7311):0143-5221.

Small-molecule inhibition of Wnt signaling through activation of casein kinase 1α., Thorne CA,Hanson AJ,Schneider J,Tahinci E,Orton D,Cselenyi CS,Jernigan KK,Meyers KC,Hang BI,Waterson AG,Kim K,Melancon B,Ghidu VP,Sulikowski GA,LaFleur B,Salic A,Lee LA,Miller DM,Lee E,Lee E, Nat Chem Biol. November 1, 2010; 6(11):1552-4469.

Inversin relays Frizzled-8 signals to promote proximal pronephros development., Lienkamp S,Ganner A,Boehlke C,Schmidt T,Arnold SJ,Schäfer T,Romaker D,Schuler J,Hoff S,Powelske C,Eifler A,Krönig C,Bullerkotte A,Nitschke R,Kuehn EW,Kim E,Burkhardt H,Brox T,Ronneberger O,Gloy J,Walz G, Proc Natl Acad Sci U S A. November 23, 2010; 107(47):1091-6490.

Development of a novel selective inhibitor of the Down syndrome-related kinase Dyrk1A., Ogawa Y,Nonaka Y,Goto T,Ohnishi E,Hiramatsu T,Kii I,Yoshida M,Ikura T,Onogi H,Shibuya H,Hosoya T,Ito N,Hagiwara M, Nat Commun. October 5, 2010; 1:2041-1723.

Functional coupling between the extracellular matrix and nuclear lamina by Wnt signaling in progeria., Hernandez L,Roux KJ,Wong ES,Mounkes LC,Mutalif R,Navasankari R,Rai B,Cool S,Jeong JW,Wang H,Lee HS,Lee HS,Kozlov S,Grunert M,Keeble T,Jones CM,Meta MD,Young SG,Daar IO,Burke B,Perantoni AO,Stewart CL, Dev Cell. September 14, 2010; 19(3):1878-1551.

Paraxial T-box genes, Tbx6 and Tbx1, are required for cranial chondrogenesis and myogenesis., Tazumi S,Yabe S,Uchiyama H, Dev Biol. October 15, 2010; 346(2):1095-564X.

Molecular basis of decreased Kir4.1 function in SeSAME/EAST syndrome., Williams DM,Lopes CM,Rosenhouse-Dantsker A,Connelly HL,Matavel A,O-Uchi J,McBeath E,Gray DA, J Am Soc Nephrol. December 1, 2010; 21(12):1533-3450.

Animal models for autosomal dominant frontal lobe epilepsy: on the origin of seizures., Steinlein OK, Expert Rev Neurother. December 1, 2010; 10(12):1744-8360.

Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phenotypic variability., Aidery P,Kisselbach J,Schweizer PA,Becker R,Katus HA,Thomas D, Biochim Biophys Acta. April 1, 2011; 1812(4):0006-3002.

ATM activates the pentose phosphate pathway promoting anti-oxidant defence and DNA repair., Cosentino C,Grieco D,Costanzo V, EMBO J. February 2, 2011; 30(3):0261-4189.

Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome., Flatt JF,Guizouarn H,Burton NM,Borgese F,Tomlinson RJ,Forsyth RJ,Baldwin SA,Levinson BE,Quittet P,Aguilar-Martinez P,Delaunay J,Stewart GW,Bruce LJ, Blood. November 10, 2011; 118(19):1528-0020.

Identification and functional characterization of KCNQ1 mutations around the exon 7-intron 7 junction affecting the splicing process., Tsuji-Wakisaka K,Akao M,Ishii TM,Ashihara T,Makiyama T,Ohno S,Toyoda F,Dochi K,Matsuura H,Horie M, Biochim Biophys Acta. November 1, 2011; 1812(11):0006-3002.

Structural basis of slow activation gating in the cardiac I Ks channel complex., Strutz-Seebohm N,Pusch M,Wolf S,Stoll R,Tapken D,Gerwert K,Attali B,Seebohm G, Cell Physiol Biochem. January 1, 2011; 27(5):1421-9778.

F508del-CFTR increases intracellular Ca(2+) signaling that causes enhanced calcium-dependent Cl(-) conductance in cystic fibrosis., Martins JR,Kongsuphol P,Sammels E,Dahimène S,Aldehni F,Clarke LA,Schreiber R,de Smedt H,Amaral MD,Kunzelmann K, Biochim Biophys Acta. November 1, 2011; 1812(11):0006-3002.

SHP-2 acts via ROCK to regulate the cardiac actin cytoskeleton., Langdon Y,Tandon P,Paden E,Duddy J,Taylor JM,Conlon FL, Development. March 1, 2012; 139(5):1477-9129.

Ca2+-activated Cl- channels at a glance., Berg J,Yang H,Jan LY, J Cell Sci. March 15, 2012; 125(Pt 6):1477-9137.

Sildenafil acts as potentiator and corrector of CFTR but might be not suitable for the treatment of CF lung disease., Leier G,Bangel-Ruland N,Sobczak K,Knieper Y,Weber WM, Cell Physiol Biochem. January 1, 2012; 29(5-6):1421-9778.

Thiol-reactive compounds from garlic inhibit the epithelial sodium channel (ENaC)., Krumm P,Giraldez T,Alvarez de la Rosa D,Clauss WG,Fronius M,Althaus M, Bioorg Med Chem. July 1, 2012; 20(13):1464-3391.

Williams Syndrome Transcription Factor is critical for neural crest cell function in Xenopus laevis., Barnett C,Yazgan O,Kuo HC,Malakar S,Thomas T,Fitzgerald A,Harbour W,Henry JJ,Krebs JE, Mech Dev. January 1, 2012; 129(9-12):1872-6356.

Impaired ion channel function related to a common KCNQ1 mutation - implications for risk stratification in long QT syndrome 1., Aidery P,Kisselbach J,Schweizer PA,Becker R,Katus HA,Thomas D, Gene. December 10, 2012; 511(1):1879-0038.

Generation of albino Xenopus tropicalis using zinc-finger nucleases., Nakajima K,Nakajima T,Takase M,Yaoita Y, Dev Growth Differ. December 1, 2012; 54(9):1440-169X.

Functional analysis of nonsynonymous single nucleotide polymorphisms in human SLC26A9., Chen AP,Chang MH,Romero MF, Hum Mutat. August 1, 2012; 33(8):1098-1004.

Activation of DSB processing requires phosphorylation of CtIP by ATR., Peterson SE,Li Y,Wu-Baer F,Chait BT,Baer R,Yan H,Gottesman ME,Gautier J, Mol Cell. February 21, 2013; 49(4):1097-4164.

Amphibian oocyte nuclei expressing lamin A with the progeria mutation E145K exhibit an increased elastic modulus., Kaufmann A,Heinemann F,Radmacher M,Stick R, Nucleus. January 1, 2011; 2(4):1949-1042.

Hyperphosphorylation of polycystin-2 at a critical residue in disease reveals an essential role for polycystin-1-regulated dephosphorylation., Streets AJ,Wessely O,Peters DJ,Ong AC, Hum Mol Genet. May 15, 2013; 22(10):1460-2083.

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.

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.

Correction of mutations within the cystic fibrosis transmembrane conductance regulator by site-directed RNA editing., Montiel-Gonzalez MF,Vallecillo-Viejo I,Yudowski GA,Rosenthal JJ, Proc Natl Acad Sci U S A. November 5, 2013; 110(45):1091-6490.

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.

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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.

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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.

no privacy, a Xenopus tropicalis mutant, is a model of human Hermansky-Pudlak Syndrome and allows visualization of internal organogenesis during tadpole development., Nakayama T,Nakajima K,Cox A,Fisher M,Fisher M,Howell M,Fish MB,Yaoita Y,Grainger RM, Dev Biol. June 15, 2017; 426(2):1095-564X.

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.

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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.

Pa2G4 is a novel Six1 co-factor that is required for neural crest and otic development., Neilson KM,Abbruzzesse G,Kenyon K,Bartolo V,Krohn P,Alfandari D,Alfandari D,Moody SA, Dev Biol. January 15, 2017; 421(2):1095-564X.

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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.

Modeling human craniofacial disorders in Xenopus., Dubey A,Saint-Jeannet JP, Curr Pathobiol Rep. March 1, 2017; 5(1):2167-485X.

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.

Usher syndrome type 1-associated cadherins shape the photoreceptor outer segment., Schietroma C,Parain K,Estivalet A,Aghaie A,Boutet de Monvel J,Picaud S,Sahel JA,Perron M,El-Amraoui A,Petit C, J Cell Biol. June 5, 2017; 216(6):1540-8140.

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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.

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.

HELLS and CDCA7 comprise a bipartite nucleosome remodeling complex defective in ICF syndrome., Jenness C,Giunta S,Müller MM,Kimura H,Muir TW,Funabiki H, Proc Natl Acad Sci U S A. January 30, 2018; 115(5):1091-6490.

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.

The atypical mitogen-activated protein kinase ERK3 is essential for establishment of epithelial architecture., Takahashi C,Miyatake K,Kusakabe M,Nishida E, J Biol Chem. June 1, 2018; 293(22):1083-351X.

Tissue-selective effects of nucleolar stress and rDNA damage in developmental disorders., Calo E,Gu B,Bowen ME,Aryan F,Zalc A,Liang J,Flynn RA,Swigut T,Chang HY,Attardi LD,Wysocka J, Nature. February 1, 2018; 554(7690):0143-5221.

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.

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.

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.

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.

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.

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.

Modeling congenital kidney diseases in Xenopus laevis., Blackburn ATM,Miller RK, Dis Model Mech. April 9, 2019; 12(4):1754-8411.

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.

Dishevelled Paralogs in Vertebrate Development: Redundant or Distinct?, Gentzel M,Schambony A, Front Cell Dev Biol. May 26, 2017; 5:2296-634X.

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.

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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.

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.

The syndromic deafness mutation G12R impairs fast and slow gating in Cx26 hemichannels., García IE,Villanelo F,Contreras GF,Pupo A,Pinto BI,Contreras JE,Pérez-Acle T,Alvarez O,Latorre R,Martínez AD,González C, J Gen Physiol. May 7, 2018; 150(5):1540-7748.

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.

Serotonin and MucXS release by small secretory cells depend on Xpod, a SSC specific marker gene., Kurrle Y,Kunesch K,Bogusch S,Schweickert A, Genesis. February 1, 2020; 58(2):1526-968X.

Late Endosomes Act as mRNA Translation Platforms and Sustain Mitochondria in Axons., Cioni JM,Lin JQ,Holtermann AV,Koppers M,Jakobs MAH,Azizi A,Turner-Bridger B,Shigeoka T,Franze K,Harris WA,Holt CE, Cell. January 10, 2019; 176(1-2):1097-4172.

Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia., Kariminejad A,Szenker-Ravi E,Lekszas C,Tajsharghi H,Moslemi AR,Naert T,Tran HT,Ahangari F,Rajaei M,Nasseri M,Haaf T,Azad A,Superti-Furga A,Maroofian R,Ghaderi-Sohi S,Najmabadi H,Abbaszadegan MR,Vleminckx K,Vleminckx K,Nikuei P,Reversade B, Am J Hum Genet. December 5, 2019; 105(6):1537-6605.

CFAP43 modulates ciliary beating in mouse and Xenopus., Rachev E,Schuster-Gossler K,Fuhl F,Ott T,Tveriakhina L,Beckers A,Hegermann J,Boldt K,Mai M,Kremmer E,Ueffing M,Blum M,Gossler A, Dev Biol. March 15, 2020; 459(2):1095-564X.

Six1 proteins with human branchio-oto-renal mutations differentially affect cranial gene expression and otic development., Shah AM,Krohn P,Baxi AB,Tavares ALP,Sullivan CH,Chillakuru YR,Majumdar HD,Neilson KM,Moody SA, Dis Model Mech. March 3, 2020; 13(3):1754-8411.

RBL1 (p107) functions as tumor suppressor in glioblastoma and small-cell pancreatic neuroendocrine carcinoma in Xenopus tropicalis., Naert T,Dimitrakopoulou D,Tulkens D,Demuynck S,Carron M,Noelanders R,Eeckhout L,Van Isterdael G,Deforce D,Vanhove C,Van Dorpe J,Creytens D,Vleminckx K,Vleminckx K, Oncogene. March 1, 2020; 39(13):0950-9232.

NCBP2 modulates neurodevelopmental defects of the 3q29 deletion in Drosophila and Xenopus laevis models., Singh MD,Jensen M,Lasser M,Huber E,Yusuff T,Pizzo L,Lifschutz B,Desai I,Kubina A,Yennawar S,Kim S,Iyer J,Rincon-Limas DE,Lowery LA,Girirajan S, PLoS Genet. February 13, 2020; 16(2):1553-7404.

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders., Barbosa S,Greville-Heygate S,Bonnet M,Godwin A,Fagotto-Kaufmann C,Kajava AV,Laouteouet D,Mawby R,Wai HA,Dingemans AJM,Hehir-Kwa J,Willems M,Capri Y,Mehta SG,Cox H,Goudie D,Vansenne F,Turnpenny P,Vincent M,Cogné B,Lesca G,Hertecant J,Rodriguez D,Keren B,Burglen L,Gérard M,Putoux A,Cantagrel V,Siquier-Pernet K,Rio M,Banka S,Sarkar A,Steeves M,Parker M,Clement E,Moutton S,Tran Mau-Them F,Piton A,de Vries BBA,Guille M,Debant A,Schmidt S,Baralle D, Am J Hum Genet. March 5, 2020; 106(3):1537-6605.

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome., Alharatani R,Ververi A,Beleza-Meireles A,Ji W,Mis E,Patterson QT,Griffin JN,Bhujel N,Chang CA,Dixit A,Konstantino M,Healy C,Hannan S,Neo N,Cash A,Li D,Bhoj E,Zackai EH,Cleaver R,Baralle D,McEntagart M,Newbury-Ecob R,Scott R,Hurst JA,Au PYB,Hosey MT,Khokha M,Marciano DK,Lakhani SA,Liu KJ,Liu KJ, Hum Mol Genet. July 21, 2020; 29(11):1460-2083.

A PKD1L3 splice variant in taste buds is not cleaved at the G protein-coupled receptor proteolytic site., Kashyap P,Ng C,Wang Z,Li B,Arif Pavel M,Martin H,Yu Y, Biochem Biophys Res Commun. May 14, 2019; 512(4):1090-2104.

The Tudor-domain protein TDRD7, mutated in congenital cataract, controls the heat shock protein HSPB1 (HSP27) and lens fiber cell morphology., Barnum CE,Al Saai S,Patel SD,Cheng C,Anand D,Xu X,Dash S,Siddam AD,Glazewski L,Paglione E,Polson SW,Chuma S,Mason RW,Wei S,Batish M,Fowler VM,Lachke SA, Hum Mol Genet. July 29, 2020; 29(12):1460-2083.

KCNC1-related disorders: new de novo variants expand the phenotypic spectrum., Park J,Koko M,Hedrich UBS,Hermann A,Cremer K,Haberlandt E,Grimmel M,Alhaddad B,Beck-Woedl S,Harrer M,Karall D,Kingelhoefer L,Tzschach A,Matthies LC,Strom TM,Ringelstein EB,Sturm M,Engels H,Wolff M,Lerche H,Haack TB, Ann Clin Transl Neurol. July 1, 2019; 6(7):2328-9503.

The connexin26 human mutation N14K disrupts cytosolic intersubunit interactions and promotes channel opening., Valdez Capuccino JM,Chatterjee P,García IE,Botello-Smith WM,Zhang H,Harris AL,Luo Y,Contreras JE, J Gen Physiol. March 4, 2019; 151(3):1540-7748.

The transcription factor Hypermethylated in Cancer 1 (Hic1) regulates neural crest migration via interaction with Wnt signaling., Ray H,Chang C, Dev Biol. July 15, 2020; 463(2):1095-564X.

Andersen-Tawil Syndrome Is Associated With Impaired PIP2 Regulation of the Potassium Channel Kir2.1., Handklo-Jamal R,Meisel E,Yakubovich D,Vysochek L,Beinart R,Glikson M,McMullen JR,Dascal N,Nof E,Oz S, Front Pharmacol. April 7, 2020; 11:1663-9812.

A novel homozygous mutation (p.N958K) of SLC12A3 in Gitelman syndrome is associated with endoplasmic reticulum stress., Tang W,Huang X,Liu Y,Lv Q,Li T,Song Y,Zhang X,Chen X,Shi Y,Shi Y, J Endocrinol Invest. March 1, 2021; 44(3):0391-4097.

Uncoupling sodium channel dimers restores the phenotype of a pain-linked Nav 1.7 channel mutation., Rühlmann AH,Körner J,Hausmann R,Bebrivenski N,Neuhof C,Detro-Dassen S,Hautvast P,Benasolo CA,Meents J,Machtens JP,Schmalzing G,Lampert A, Br J Pharmacol. October 1, 2020; 177(19):1476-5381.

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.

Simple binding of protein kinase A prior to phosphorylation allows CFTR anion channels to be opened by nucleotides., Mihályi C,Iordanov I,Töröcsik B,Csanády L, Proc Natl Acad Sci U S A. September 1, 2020; 117(35):1091-6490.

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.

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.

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.

VX-770-mediated potentiation of numerous human CFTR disease mutants is influenced by phosphorylation level., Cui G,Stauffer BB,Imhoff BR,Rab A,Hong JS,Sorscher EJ,McCarty NA, Sci Rep. September 17, 2019; 9(1):2045-2322.

Editorial: Xenopus Models of Organogenesis and Disease., Griffin JN,Liu KJ,Liu KJ,Sempou E, Front Physiol. January 1, 2020; 11:1664-042X.

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.

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.

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.

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.

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.

Modeling endoderm development and disease in Xenopus., Edwards NA,Zorn AM, Curr Top Dev Biol. January 1, 2021; 145:1557-8933.

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.

Sobp modulates the transcriptional activation of Six1 target genes and is required during craniofacial development., Tavares ALP,Jourdeuil K,Neilson KM,Majumdar HD,Moody SA, Development. September 1, 2021; 148(17):1477-9129.

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.

Function of chromatin modifier Hmgn1 during neural crest and craniofacial development., Ihewulezi C,Saint-Jeannet JP, Genesis. October 1, 2021; 59(10):1526-968X.

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.

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.

Galloway-Mowat syndrome: New insights from bioinformatics and expression during Xenopus embryogenesis., Treimer E,Niedermayer K,Schumann S,Zenker M,Schmeisser MJ,Kühl SJ, Gene Expr Patterns. December 1, 2021; 42:1567-133X.

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.

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.

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.

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.

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.

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.

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.

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.

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 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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.