Summary Literature (377)

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.

Negative regulation of Hedgehog signaling by the cholesterogenic enzyme 7-dehydrocholesterol reductase., Koide T,Hayata T,Cho KW, Development. June 1, 2006; 133(12):1477-9129.

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 novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract., Arora A,Minogue PJ,Liu X,Reddy MA,Ainsworth JR,Bhattacharya SS,Webster AR,Hunt DM,Ebihara L,Moore AT,Beyer EC,Berthoud VM, J Med Genet. January 1, 2006; 43(1):1468-6244.

A dominant-negative form of the E3 ubiquitin ligase Cullin-1 disrupts the correct allocation of cell fate in the neural crest lineage., Voigt J,Papalopulu N, Development. February 1, 2006; 133(3):1477-9129.

The organization and inheritance of the mitochondrial genome., Chen XJ,Butow RA, Nat Rev Genet. November 1, 2005; 6(11):1471-0056.

Xnf7 contributes to spindle integrity through its microtubule-bundling activity., Maresca TJ,Niederstrasser H,Weis K,Heald R, Curr Biol. October 11, 2005; 15(19):0960-9822.

Neural and eye-specific defects associated with loss of the imitation switch (ISWI) chromatin remodeler in Xenopus laevis., Dirscherl SS,Henry JJ,Krebs JE, Mech Dev. November 1, 2005; 122(11):1872-6356.

Cloning and functional characterization of the Xenopus orthologue of the Treacher Collins syndrome (TCOF1) gene product., Gonzales B,Yang H,Henning D,Valdez BC, Gene. October 10, 2005; 359:1879-0038.

ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies., Wiszniewski W,Zaremba CM,Yatsenko AN,Jamrich M,Wensel TG,Lewis RA,Lupski JR, Hum Mol Genet. October 1, 2005; 14(19):1460-2083.

A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein., Wattenhofer M,Sahin-Calapoglu N,Andreasen D,Kalay E,Caylan R,Braillard B,Fowler-Jaeger N,Reymond A,Rossier BC,Karaguzel A,Antonarakis SE, Hum Genet. October 1, 2005; 117(6):1432-1203.

AP-2alpha selectively regulates fragile X mental retardation-1 gene transcription during embryonic development., Lim JH,Booker AB,Luo T,Williams T,Furuta Y,Lagutin O,Oliver G,Sargent TD,Fallon JR, Hum Mol Genet. July 15, 2005; 14(14):1460-2083.

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.

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.

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.

In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations., Schimanski LM,Drakesmith H,Merryweather-Clarke AT,Viprakasit V,Edwards JP,Sweetland E,Bastin JM,Cowley D,Chinthammitr Y,Robson KJ,Townsend AR, Blood. May 15, 2005; 105(10):1528-0020.

A structural basis for the acute effects of HIV protease inhibitors on GLUT4 intrinsic activity., Hertel J,Struthers H,Horj CB,Hruz PW, J Biol Chem. December 31, 2004; 279(53):1083-351X.

A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects., Dinour D,Chang MH,Satoh J,Smith BL,Smith BL,Angle N,Knecht A,Serban I,Holtzman EJ,Romero MF, J Biol Chem. December 10, 2004; 279(50):1083-351X.

The amino acid transporter asc-1 is not involved in cystinuria., Pineda M,Font M,Bassi MT,Manzoni M,Borsani G,Marigo V,Fernández E,Río RM,Purroy J,Zorzano A,Nunes V,Palacín M, Kidney Int. October 1, 2004; 66(4):1523-1755.

Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism., Splawski I,Timothy KW,Sharpe LM,Decher N,Kumar P,Bloise R,Napolitano C,Schwartz PJ,Joseph RM,Condouris K,Tager-Flusberg H,Priori SG,Sanguinetti MC,Keating MT, Cell. October 1, 2004; 119(1):1097-4172.

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.

Disruption of TRPM6/TRPM7 complex formation by a mutation in the TRPM6 gene causes hypomagnesemia with secondary hypocalcemia., Chubanov V,Waldegger S,Mederos y Schnitzler M,Vitzthum H,Sassen MC,Seyberth HW,Konrad M,Gudermann T, Proc Natl Acad Sci U S A. March 2, 2004; 101(9):1091-6490.

A model of tripeptidyl-peptidase I (CLN2), a ubiquitous and highly conserved member of the sedolisin family of serine-carboxyl peptidases., Wlodawer A,Durell SR,Li M,Oyama H,Oda K,Dunn BM, BMC Struct Biol. November 11, 2003; 3:1472-6807.

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.

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 mechanism for Brugada syndrome: defective surface localization of an SCN5A mutant (R1432G)., Baroudi G,Pouliot V,Denjoy I,Guicheney P,Shrier A,Chahine M, Circ Res. June 22, 2001; 88(12):1524-4571.

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.

Molecular mechanism underlying a Cx50-linked congenital cataract., Pal JD,Berthoud VM,Beyer EC,Mackay D,Shiels A,Ebihara L, Am J Physiol. June 1, 1999; 276(6):0002-9513.

SOD1 mutants linked to amyotrophic lateral sclerosis selectively inactivate a glial glutamate transporter., Trotti D,Rolfs A,Danbolt NC,Brown RH,Hediger MA, Nat Neurosci. May 1, 1999; 2(5):1546-1726.

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.

Expanded CTG triplet blocks from the myotonic dystrophy gene create the strongest known natural nucleosome positioning elements., Wang YH,Griffith J, Genomics. January 20, 1995; 25(2):1089-8646.

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 heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes., Proks P,Arnold AL,Bruining J,Girard C,Flanagan SE,Larkin B,Colclough K,Hattersley AT,Ashcroft FM,Ellard S, Hum Mol Genet. June 1, 2006; 15(11):1460-2083.

Impaired iron transport activity of ferroportin 1 in hereditary iron overload., McGregor JA,Shayeghi M,Vulpe CD,Anderson GJ,Pietrangelo A,Simpson RJ,McKie AT, J Membr Biol. July 1, 2005; 206(1):1432-1424.

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.

The residues determining differences in ion affinities among the alternative splice variants F, A, and B of the mammalian renal Na-K-Cl cotransporter (NKCC2)., Giménez I,Forbush B, J Biol Chem. March 2, 2007; 282(9):1083-351X.

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.

A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts., Arora A,Minogue PJ,Liu X,Addison PK,Russel-Eggitt I,Webster AR,Hunt DM,Ebihara L,Beyer EC,Berthoud VM,Moore AT, J Med Genet. March 1, 2008; 45(3):1468-6244.

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.

Use of tc-99m mebrofenin as a clinical probe to assess altered hepatobiliary transport: integration of in vitro, pharmacokinetic modeling, and simulation studies., Ghibellini G,Leslie EM,Pollack GM,Brouwer KL, Pharm Res. August 1, 2008; 25(8):1573-904X.

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.

Functional and structural characterization of PKA-mediated pHi gating of ROMK1 channels., Lee CH,Lee CH,Lee CH,Huang PT,Lou KL,Liou HH, J Mol Graph Model. October 1, 2008; 27(3):1873-4243.

Promoting ectopic pancreatic fates: pancreas development and future diabetes therapies., Pearl EJ,Horb ME, Clin Genet. October 1, 2008; 74(4):1399-0004.

Heme metabolism enzymes are dynamically expressed during Xenopus embryonic development., Shi J,Mei W,Yang J, Biocell. December 1, 2008; 32(3):0327-9545.

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.

Neurodevelopmental effects of chronic exposure to elevated levels of pro-inflammatory cytokines in a developing visual system., Lee RH,Mills EA,Schwartz N,Bell MR,Deeg KE,Ruthazer ES,Marsh-Armstrong N,Aizenman CD, Neural Dev. January 4, 2010; 5:1749-8104.

A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival., Rauschenberger K,Schöler K,Sass JO,Sauer S,Djuric Z,Rumig C,Wolf NI,Okun JG,Kölker S,Schwarz H,Fischer C,Grziwa B,Runz H,Nümann A,Shafqat N,Kavanagh KL,Hämmerling G,Wanders RJ,Shield JP,Wendel U,Stern D,Nawroth P,Hoffmann GF,Bartram CR,Arnold B,Bierhaus A,Oppermann U,Steinbeisser H,Zschocke J, EMBO Mol Med. February 1, 2010; 2(2):1757-4684.

An alpha7 nicotinic acetylcholine receptor-selective agonist reduces weight gain and metabolic changes in a mouse model of diabetes., Marrero MB,Lucas R,Salet C,Hauser TA,Mazurov A,Lippiello PM,Bencherif M, J Pharmacol Exp Ther. January 1, 2010; 332(1):1521-0103.

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.

A regulatory calcium-binding site at the subunit interface of CLC-K kidney chloride channels., Gradogna A,Babini E,Picollo A,Pusch M, J Gen Physiol. September 1, 2010; 136(3):1540-7748.

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.

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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.

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.

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.

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.

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6., Zariwala MA,Gee HY,Kurkowiak M,Al-Mutairi DA,Leigh MW,Hurd TW,Hjeij R,Dell SD,Chaki M,Dougherty GW,Adan M,Spear PC,Esteve-Rudd J,Loges NT,Rosenfeld M,Diaz KA,Olbrich H,Wolf WE,Sheridan E,Batten TF,Halbritter J,Porath JD,Kohl S,Lovric S,Hwang DY,Pittman JE,Burns KA,Ferkol TW,Sagel SD,Olivier KN,Morgan LC,Werner C,Raidt J,Pennekamp P,Sun Z,Zhou W,Airik R,Natarajan S,Allen SJ,Amirav I,Wieczorek D,Landwehr K,Nielsen K,Schwerk N,Sertic J,Köhler G,Washburn J,Levy S,Fan S,Koerner-Rettberg C,Amselem S,Williams DS,Mitchell BJ,Drummond IA,Otto EA,Omran H,Knowles MR,Hildebrandt F, Am J Hum Genet. August 8, 2013; 93(2):1537-6605.

A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome., Rienhoff HY,Yeo CY,Morissette R,Khrebtukova I,Melnick J,Luo S,Leng N,Kim YJ,Schroth G,Westwick J,Vogel H,McDonnell N,Hall JG,Whitman M, Am J Med Genet A. August 1, 2013; 161A(8):1552-4833.

Transmembrane water-flux through SLC4A11: a route defective in genetic corneal diseases., Vilas GL,Loganathan SK,Liu J,Riau AK,Young JD,Mehta JS,Vithana EN,Casey JR, Hum Mol Genet. November 15, 2013; 22(22):1460-2083.

CNGA3 achromatopsia-associated mutation potentiates the phosphoinositide sensitivity of cone photoreceptor CNG channels by altering intersubunit interactions., Dai G,Varnum MD, Am J Physiol Cell Physiol. July 15, 2013; 305(2):1522-1563.

Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome., Mahmood F,Mozere M,Zdebik AA,Stanescu HC,Tobin J,Beales PL,Kleta R,Bockenhauer D,Russell C, Dis Model Mech. May 1, 2013; 6(3):1754-8411.

Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome., Valayannopoulos V,Bakouh N,Mazzuca M,Nonnenmacher L,Hubert L,Makaci FL,Chabli A,Salomons GS,Mellot-Draznieks C,Brulé E,de Lonlay P,Toulhoat H,Munnich A,Planelles G,de Keyzer Y, J Inherit Metab Dis. January 1, 2013; 36(1):1573-2665.

Identification of compound heterozygous KCNJ1 mutations (encoding ROMK) in a kindred with Bartter's syndrome and a functional analysis of their pathogenicity., Srivastava S,Li D,Edwards N,Hynes AM,Wood K,Al-Hamed M,Wroe AC,Reaich D,Moochhala SH,Welling PA,Sayer JA, Physiol Rep. November 1, 2013; 1(6):2051-817X.

The unusual stoichiometry of ADP activation of the KATP channel., Hosy E,Vivaudou M, Front Physiol. January 28, 2014; 5:1664-042X.

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Heparanase 2, mutated in urofacial syndrome, mediates peripheral neural development in Xenopus., Roberts NA,Woolf AS,Stuart HM,Thuret R,McKenzie EA,Newman WG,Hilton EN, Hum Mol Genet. August 15, 2014; 23(16):1460-2083.

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Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia., Wallmeier J,Al-Mutairi DA,Chen CT,Loges NT,Pennekamp P,Menchen T,Ma L,Shamseldin HE,Olbrich H,Dougherty GW,Werner C,Alsabah BH,Köhler G,Jaspers M,Boon M,Griese M,Schmitt-Grohé S,Zimmermann T,Koerner-Rettberg C,Horak E,Kintner C,Alkuraya FS,Omran H, Nat Genet. June 1, 2014; 46(6):1546-1718.

Recessive mutations in PCBD1 cause a new type of early-onset diabetes., Simaite D,Kofent J,Gong M,Rüschendorf F,Jia S,Arn P,Bentler K,Ellaway C,Kühnen P,Hoffmann GF,Blau N,Spagnoli FM,Hübner N,Raile K, Diabetes. October 1, 2014; 63(10):1939-327X.

Retinoic acid induced-1 (Rai1) regulates craniofacial and brain development in Xenopus., Tahir R,Kennedy A,Elsea SH,Dickinson AJ, Mech Dev. August 1, 2014; 133:1872-6356.

Cluap1 is essential for ciliogenesis and photoreceptor maintenance in the vertebrate eye., Lee C,Lee C,Lee C,Wallingford JB,Gross JM, Invest Ophthalmol Vis Sci. June 26, 2014; 55(7):1552-5783.

Down syndrome cell adhesion molecule (DSCAM) is important for early development in Xenopus tropicalis., Morales Diaz HD, Genesis. October 1, 2014; :1526-968X.

Cystic fibrosis transmembrane conductance regulator (CFTR) potentiators protect G551D but not ΔF508 CFTR from thermal instability., Liu X,Dawson DC, Biochemistry. September 9, 2014; 53(35):1520-4995.

The splicing factor PQBP1 regulates mesodermal and neural development through FGF signaling., Iwasaki Y,Thomsen GH, Development. October 1, 2014; 141(19):1477-9129.

Aberrant connexin26 hemichannels underlying keratitis-ichthyosis-deafness syndrome are potently inhibited by mefloquine., Levit NA,Sellitto C,Wang HZ,Li L,Srinivas M,Brink PR,White TW, J Invest Dermatol. April 1, 2015; 135(4):1523-1747.

Inhibitory effects of insulin on GABAA currents modulated by the GABAA alpha subunit., Williams DB, J Recept Signal Transduct Res. January 1, 2015; 35(6):1532-4281.

Cathepsin B contributes to Na+ hyperabsorption in cystic fibrosis airway epithelial cultures., Tan CD,Hobbs C,Sameni M,Sloane BF,Stutts MJ,Tarran R, J Physiol. December 1, 2014; 592(23):0022-3751.

Xenopus mutant reveals necessity of rax for specifying the eye field which otherwise forms tissue with telencephalic and diencephalic character., Fish MB,Nakayama T,Fisher M,Hirsch N,Cox A,Reeder R,Carruthers S,Hall A,Stemple DL,Grainger RM, Dev Biol. November 15, 2014; 395(2):1095-564X.

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The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter., Abplanalp J,Laczko E,Philp NJ,Neidhardt J,Zuercher J,Braun P,Schorderet DF,Munier FL,Verrey F,Berger W,Camargo SM,Kloeckener-Gruissem B, Hum Mol Genet. August 15, 2013; 22(16):1460-2083.

The Rac1 regulator ELMO controls basal body migration and docking in multiciliated cells through interaction with Ezrin., Epting D,Slanchev K,Boehlke C,Hoff S,Loges NT,Yasunaga T,Indorf L,Nestel S,Lienkamp SS,Omran H,Kuehn EW,Ronneberger O,Walz G,Kramer-Zucker A, Development. January 1, 2015; 142(1):1477-9129.

Osmostress-induced apoptosis in Xenopus oocytes: role of stress protein kinases, calpains and Smac/DIABLO., Ben Messaoud N,Yue J,Valent D,Katzarova I,López JM, PLoS One. January 1, 2015; 10(4):1932-6203.

The evolutionarily conserved transcription factor PRDM12 controls sensory neuron development and pain perception., Nagy V,Cole T,Van Campenhout C,Khoung TM,Leung C,Vermeiren S,Novatchkova M,Wenzel D,Cikes D,Polyansky AA,Kozieradzki I,Meixner A,Bellefroid EJ,Neely GG,Penninger JM, Cell Cycle. January 1, 2015; 14(12):1551-4005.

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Structure-activity analysis of a CFTR channel potentiator: Distinct molecular parts underlie dual gating effects., Csanády L,Töröcsik B, J Gen Physiol. October 1, 2014; 144(4):1540-7748.

High incidence of functional ion-channel abnormalities in a consecutive Long QT cohort with novel missense genetic variants of unknown significance., Steffensen AB,Refaat MM,David JP,Mujezinovic A,Calloe K,Wojciak J,Nussbaum RL,Scheinman MM,Schmitt N, Sci Rep. January 12, 2015; 5:2045-2322.

Three charged amino acids in extracellular loop 1 are involved in maintaining the outer pore architecture of CFTR., Cui G,Rahman KS,Infield DT,Kuang C,Prince CZ,McCarty NA, J Gen Physiol. August 1, 2014; 144(2):1540-7748.

Disrupted coupling of gating charge displacement to Na+ current activation for DIIS4 mutations in hypokalemic periodic paralysis., Mi W,Rybalchenko V,Cannon SC, J Gen Physiol. August 1, 2014; 144(2):1540-7748.

The involvement of PCP proteins in radial cell intercalations during Xenopus embryonic development., Ossipova O,Chu CW,Fillatre J,Brott BK,Itoh K,Sokol SY, Dev Biol. December 15, 2015; 408(2):1095-564X.

BMP signalling controls the construction of vertebrate mucociliary epithelia., Cibois M,Luxardi G,Chevalier B,Thomé V,Mercey O,Zaragosi LE,Barbry P,Pasini A,Marcet B,Kodjabachian L, Development. July 1, 2015; 142(13):1477-9129.

Developmental role of plk4 in Xenopus laevis and Danio rerio: implications for Seckel Syndrome., Rapchak CE,Patel N,Hudson J,Crawford M, Biochem Cell Biol. August 1, 2015; 93(4):1208-6002.

The UNC-45 myosin chaperone: from worms to flies to vertebrates., Lee CF,Lee CF,Lee CF,Melkani GC,Bernstein SI, Int Rev Cell Mol Biol. January 1, 2014; 313:1937-6448.

Xenopus as a Model for GI/Pancreas Disease., Salanga MC,Horb ME, Curr Pathobiol Rep. June 1, 2015; 3(2):2167-485X.

NF2/Merlin is required for the axial pattern formation in the Xenopus laevis embryo., Zhu X,Min Z,Tan R,Tao Q,Tao Q, Mech Dev. November 1, 2015; 138 Pt 3:1872-6356.

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.

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome., Hempel A,Pagnamenta AT,Blyth M,Mansour S,McConnell V,Kou I,Ikegawa S,Tsurusaki Y,Matsumoto N,Lo-Castro A,Plessis G,Albrecht B,Battaglia A,Taylor JC,Howard MF,Keays D,Sohal AS,Kühl SJ,Kühl SJ,Kini U,McNeill A, J Med Genet. March 1, 2016; 53(3):1468-6244.

Ccdc11 is a novel centriolar satellite protein essential for ciliogenesis and establishment of left-right asymmetry., Silva E,Betleja E,John E,Spear P,Moresco JJ,Zhang S,Yates JR,Mitchell BJ,Mahjoub MR, Mol Biol Cell. January 1, 2016; 27(1):1939-4586.

Channelopathies: ion channel defects linked to heritable clinical disorders., Felix R, J Med Genet. October 1, 2000; 37(10):1468-6244.

Distinctive effects of nicotinic receptor intracellular-loop mutations associated with nocturnal frontal lobe epilepsy., Weltzin MM,Lindstrom JM,Lukas RJ,Whiteaker P, Neuropharmacology. March 1, 2016; 102:1873-7064.

Xenopus as a model system for studying pancreatic development and diabetes., Kofent J,Spagnoli FM, Semin Cell Dev Biol. March 1, 2016; 51:1096-3634.

Using Xenopus to study genetic kidney diseases., Lienkamp SS, Semin Cell Dev Biol. March 1, 2016; 51:1096-3634.

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.

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.

Efficient Activation of Pathogenic ΔPhe501 Mutation in Monocarboxylate Transporter 8 by Chemical and Pharmacological Chaperones., Braun D,Schweizer U, Endocrinology. December 1, 2015; 156(12):1945-7170.

Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes., Babiker T,Vedovato N,Patel K,Thomas N,Finn R,Männikkö R,Chakera AJ,Flanagan SE,Shepherd MH,Ellard S,Ashcroft FM,Hattersley AT, Diabetologia. June 1, 2016; 59(6):1432-0428.

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.

Functional aspects of early brain development are preserved in tuberous sclerosis complex (TSC) epileptogenic lesions., Ruffolo G,Iyer A,Cifelli P,Roseti C,Mühlebner A,van Scheppingen J,Scholl T,Hainfellner JA,Feucht M,Krsek P,Zamecnik J,Jansen FE,Spliet WG,Limatola C,Aronica E,Palma E, Neurobiol Dis. November 1, 2016; 95:1095-953X.

Potentiators exert distinct effects on human, murine, and Xenopus CFTR., Cui G,Khazanov N,Stauffer BB,Infield DT,Imhoff BR,Senderowitz H,McCarty NA, Am J Physiol Lung Cell Mol Physiol. August 1, 2016; 311(2):1522-1504.

Fragile X mental retardation protein knockdown in the developing Xenopus tadpole optic tectum results in enhanced feedforward inhibition and behavioral deficits., Truszkowski TL,James EJ,Hasan M,Wishard TJ,Liu Z,Pratt KG,Cline HT,Aizenman CD, Neural Dev. August 8, 2016; 11(1):1749-8104.

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females., Palmer EE,Stuhlmann T,Weinert S,Haan E,Van Esch H,Holvoet M,Boyle J,Leffler M,Raynaud M,Moraine C,van Bokhoven H,Kleefstra T,Kahrizi K,Najmabadi H,Ropers HH,Delgado MR,Sirsi D,Golla S,Sommer A,Pietryga MP,Chung WK,Wynn J,Rohena L,Bernardo E,Hamlin D,Faux BM,Grange DK,Manwaring L,Tolmie J,Joss S,Cobben JM,Duijkers FAM,Goehringer JM,Challman TD,Hennig F,Fischer U,Grimme A,Suckow V,Musante L,Nicholl J,Shaw M,Lodh SP,Niu Z,Rosenfeld JA,Stankiewicz P,Jentsch TJ,Gecz J,Field M,Kalscheuer VM, Mol Psychiatry. February 1, 2018; 23(2):1476-5578.

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.

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.

Sox9 function in craniofacial development and disease., Lee YH,Lee YH,Saint-Jeannet JP, Genesis. April 1, 2011; 49(4):1526-968X.

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.

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.

Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome., Webb BD,Metikala S,Wheeler PG,Sherpa MD,Houten SM,Horb ME,Schadt EE, Hum Mutat. April 1, 2017; 38(4):1098-1004.

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.

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.

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.

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.

Bacterial Sphingomyelinase is a State-Dependent Inhibitor of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR)., Stauffer BB,Cui G,Cottrill KA,Infield DT,McCarty NA, Sci Rep. June 7, 2017; 7(1):2045-2322.

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Micellar Nanomedicine of Novel Fatty Acid Modified Xenopus Glucagon-like Peptide-1: Improved Physicochemical Characteristics and Therapeutic Utilities for Type 2 Diabetes., Han J,Fei Y,Zhou F,Chen X,Zheng W,Fu J, Mol Pharm. November 6, 2017; 14(11):1543-8392.

Asymmetry of movements in CFTR's two ATP sites during pore opening serves their distinct functions., Sorum B,Töröcsik B,Csanády L, Elife. September 25, 2017; 6:2050-084X.

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.

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.

Interaction of Excitatory Amino Acid Transporters 1 - 3 (EAAT1, EAAT2, EAAT3) with N-Carbamoylglutamate and N-Acetylglutamate., Burckhardt BC,Burckhardt G, Cell Physiol Biochem. January 1, 2017; 43(5):1421-9778.

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.

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.

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.

Control of actin polymerization via the coincidence of phosphoinositides and high membrane curvature., Daste F,Walrant A,Holst MR,Gadsby JR,Mason J,Lee JE,Lee JE,Lee JE,Brook D,Mettlen M,Larsson E,Lee SF,Lundmark R,Gallop JL, J Cell Biol. November 6, 2017; 216(11):1540-8140.

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.

Stac3 enhances expression of human CaV1.1 in Xenopus oocytes and reveals gating pore currents in HypoPP mutant channels., Wu F,Quinonez M,DiFranco M,Cannon SC, J Gen Physiol. March 5, 2018; 150(3):1540-7748.

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.

A comparative genomics study of carbohydrate/glucose metabolic genes: from fish to mammals., Zhang Y,Zhang Y,Qin C,Yang L,Lu R,Zhao X,Nie G, BMC Genomics. April 11, 2018; 19(1):1471-2164.

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.

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.

Binding of sulphonylureas to plasma proteins - A KATP channel perspective., Proks P,Kramer H,Haythorne E,Ashcroft FM, PLoS One. May 15, 2018; 13(5):1932-6203.

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.

A novel MIP mutation in a Chinese family with congenital cataract., Yuan C,Han T,Su P,Liu M,Zhou X,Zhou X,Zhang D,Jia W,Wang A,Yue M,Xiang Z,Chen L,Zhang X, Ophthalmic Genet. August 1, 2018; 39(4):1744-5094.

Rational design of dimeric lipidated Xenopus glucagon-like peptide 1 analogues as long-acting antihyperglycaemic agents., Han J,Huang Y,Chen X,Zhou F,Fei Y,Fu J, Eur J Med Chem. September 5, 2018; 157:1768-3254.

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.

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome., Braun DA,Lovric S,Schapiro D,Schneider R,Marquez J,Asif M,Hussain MS,Daga A,Widmeier E,Rao J,Ashraf S,Tan W,Lusk CP,Kolb A,Jobst-Schwan T,Schmidt JM,Hoogstraten CA,Eddy K,Kitzler TM,Shril S,Moawia A,Schrage K,Khayyat AIA,Lawson JA,Gee HY,Warejko JK,Hermle T,Majmundar AJ,Hugo H,Budde B,Motameny S,Altmüller J,Noegel AA,Fathy HM,Gale DP,Waseem SS,Khan A,Kerecuk L,Hashmi S,Mohebbi N,Ettenger R,Serdaroğlu E,Alhasan KA,Hashem M,Goncalves S,Ariceta G,Ubetagoyena M,Antonin W,Baig SM,Alkuraya FS,Shen Q,Xu H,Antignac C,Lifton RP,Mane S,Nürnberg P,Khokha MK,Hildebrandt F, J Clin Invest. October 1, 2018; 128(10):1558-8238.

CRISPR/Cas9 disease models in zebrafish and Xenopus: The genetic renaissance of fish and frogs., Naert T,Vleminckx K,Vleminckx K, Drug Discov Today Technol. August 1, 2018; 28:1740-6749.

Inactivation of KCNQ1 potassium channels reveals dynamic coupling between voltage sensing and pore opening., Hou P,Eldstrom J,Shi J,Zhong L,McFarland K,Gao Y,Fedida D,Cui J, Nat Commun. November 23, 2017; 8(1):2041-1723.

The evolutionary conserved FOXJ1 target gene Fam183b is essential for motile cilia in Xenopus but dispensable for ciliary function in mice., Beckers A,Ott T,Schuster-Gossler K,Boldt K,Alten L,Ueffing M,Blum M,Gossler A, Sci Rep. October 2, 2018; 8(1):2045-2322.

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 ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms., Sampedro Castañeda M,Zanoteli E,Scalco RS,Scaramuzzi V,Marques Caldas V,Conti Reed U,da Silva AMS,O'Callaghan B,Phadke R,Bugiardini E,Sud R,McCall S,Hanna MG,Poulsen H,Männikkö R,Matthews E, Brain. December 1, 2018; 141(12):1460-2156.

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.

Mutations in Kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development., Konjikusic MJ,Yeetong P,Boswell CW,Lee C,Lee C,Lee C,Roberson EC,Ittiwut R,Suphapeetiporn K,Ciruna B,Gurnett CA,Wallingford JB,Shotelersuk V,Gray RS, PLoS Genet. November 6, 2018; 14(11):1553-7404.

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.

A liquid-like organelle at the root of motile ciliopathy., Huizar RL,Lee C,Lee C,Lee C,Boulgakov AA,Horani A,Tu F,Marcotte EM,Brody SL,Wallingford JB, Elife. December 18, 2018; 7:2050-084X.

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.

The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1., Ott T,Kaufmann L,Granzow M,Hinderhofer K,Bartram CR,Theiß S,Seitz A,Paramasivam N,Schulz A,Moog U,Blum M,Evers CM, Front Physiol. January 1, 2019; 10:1664-042X.

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.

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.

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

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.

The Many Faces of Xenopus: Xenopus laevis as a Model System to Study Wolf-Hirschhorn Syndrome., Lasser M,Pratt B,Monahan C,Kim SW,Lowery LA, Front Physiol. January 1, 2019; 10:1664-042X.

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.

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.

Evaluation of mutant muscle Ca2+ channel properties using two different expression systems., Allard B, J Gen Physiol. July 2, 2018; 150(7):1540-7748.

Conservation and divergence of protein pathways in the vertebrate heart., Federspiel JD,Tandon P,Wilczewski CM,Wasson L,Herring LE,Venkatesh SS,Cristea IM,Conlon FL, PLoS Biol. September 6, 2019; 17(9):1545-7885.

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.

Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance., Bustamante-Marin XM,Yin WN,Sears PR,Werner ME,Brotslaw EJ,Mitchell BJ,Jania CM,Zeman KL,Rogers TD,Herring LE,Refabért L,Thomas L,Amselem S,Escudier E,Legendre M,Grubb BR,Knowles MR,Zariwala MA,Ostrowski LE, Am J Hum Genet. February 7, 2019; 104(2):1537-6605.

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.

Analysis of CLCNKB mutations at dimer-interface, calcium-binding site, and pore reveals a variety of functional alterations in ClC-Kb channel leading to Bartter syndrome., Bignon Y,Sakhi I,Bitam S,Bakouh N,Keck M,Frachon N,Paulais M,Planelles G,Teulon J,Andrini O, Hum Mutat. April 1, 2020; 41(4):1098-1004.

Rare Human Diseases: Model Organisms in Deciphering the Molecular Basis of Primary Ciliary Dyskinesia., Poprzeczko M,Bicka M,Farahat H,Bazan R,Osinka A,Fabczak H,Joachimiak E,Wloga D, Cells. December 11, 2019; 8(12):2073-4409.

Modeling ocular lens disease in Xenopus., Viet J,Reboutier D,Hardy S,Lachke SA,Paillard L,Gautier-Courteille C, Dev Dyn. May 1, 2020; 249(5):1058-8388.

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.

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The FOXJ1 target Cfap206 is required for sperm motility, mucociliary clearance of the airways and brain development., Beckers A,Adis C,Schuster-Gossler K,Tveriakhina L,Ott T,Fuhl F,Hegermann J,Boldt K,Serth K,Rachev E,Alten L,Kremmer E,Ueffing M,Blum M,Gossler A, Development. June 15, 2020; 147(21):1477-9129.

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.

CAMSAP3 facilitates basal body polarity and the formation of the central pair of microtubules in motile cilia., Robinson AM,Takahashi S,Brotslaw EJ,Ahmad A,Ferrer E,Procissi D,Richter CP,Cheatham MA,Mitchell BJ,Zheng J, Proc Natl Acad Sci U S A. June 16, 2020; 117(24):1091-6490.

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.

DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes., Marquez J,Mann N,Arana K,Deniz E,Ji W,Konstantino M,Mis EK,Deshpande C,Jeffries L,McGlynn J,Hugo H,Widmeier E,Konrad M,Tasic V,Morotti R,Baptista J,Ellard S,Lakhani SA,Hildebrandt F,Khokha MK, J Med Genet. July 1, 2021; 58(7):1468-6244.

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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.

Role of epigenetics and miRNAs in orofacial clefts., Garland MA,Sun B,Zhang S,Reynolds K,Ji Y,Zhou CJ, Birth Defects Res. November 1, 2020; 112(19):2472-1727.

Nucleoporin NUP205 plays a critical role in cilia and congenital disease., Marquez J,Bhattacharya D,Lusk CP,Khokha MK, Dev Biol. January 1, 2021; 469:1095-564X.

Stapled and Xenopus Glucagon-Like Peptide 1 (GLP-1)-Based Dual GLP-1/Gastrin Receptor Agonists with Improved Metabolic Benefits in Rodent Models of Obesity and Diabetes., Chen X,Fu J,Zhou F,Yang Q,Wang J,Feng H,Jiang W,Jin L,Tang X,Jiang N,Yin J,Han J, J Med Chem. November 12, 2020; 63(21):1520-4804.

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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.

Functional partitioning of a liquid-like organelle during assembly of axonemal dyneins., Lee C,Lee C,Lee C,Cox RM,Papoulas O,Horani A,Drew K,Devitt CC,Brody SL,Marcotte EM,Wallingford JB, Elife. December 2, 2020; 9:2050-084X.

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.

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Beneficial actions of the [A14K] analog of the frog skin peptide PGLa-AM1 in mice with obesity and degenerative diabetes: A mechanistic study., Musale V,Moffett RC,Conlon JM,Flatt PR,Abdel-Wahab YH, Peptides. February 1, 2021; 136:1873-5169.

MiR-9 and the Midbrain-Hindbrain Boundary: A Showcase for the Limited Functional Conservation and Regulatory Complexity of MicroRNAs., Alwin Prem Anand A,Alvarez-Bolado G,Wizenmann A, Front Cell Dev Biol. January 1, 2020; 8:2296-634X.

Xenopus leads the way: Frogs as a pioneering model to understand the human brain., Exner CRT,Willsey HR, Genesis. February 1, 2021; 59(1-2):1526-968X.

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

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.

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.

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.

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.

RNA demethylation by FTO stabilizes the FOXJ1 mRNA for proper motile ciliogenesis., Kim H,Lee YS,Lee YS,Kim SM,Jang S,Choi H,Lee JW,Lee JW,Kim TD,Kim VN, Dev Cell. April 19, 2021; 56(8):1878-1551.

Cation leak underlies neuronal excitability in an HCN1 developmental and epileptic encephalopathy., Bleakley LE,McKenzie CE,Soh MS,Forster IC,Pinares-Garcia P,Sedo A,Kathirvel A,Churilov L,Jancovski N,Maljevic S,Berkovic SF,Scheffer IE,Petrou S,Santoro B,Reid CA, Brain. August 17, 2021; 144(7):1460-2156.

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.

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.

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.

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

Stapled, Long-Acting Xenopus GLP-1-Based Dual GLP-1/Glucagon Receptor Agonists with Potent Therapeutic Efficacy for Metabolic Disease., Han C,Sun Y,Yang Q,Zhou F,Chen X,Wu L,Sun L,Han J, Mol Pharm. August 2, 2021; 18(8):1543-8392.

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.

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.

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.

BK channel openers NS1619 and NS11021 reverse hydrogen peroxide-induced membrane potential changes in skeletal muscle., Coskun C,Buyuknacar HS,Cicek F,Gunay I, J Recept Signal Transduct Res. October 1, 2020; 40(5):1532-4281.

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

The Molecular Basis of Glucose Galactose Malabsorption in a Large Swedish Pedigree., Lostao MP,Loo DD,Hernell O,Meeuwisse G,Martin MG,Wright EM, Function (Oxf). January 1, 2021; 2(5):2633-8823.

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.

Single-minded 2 is required for left-right asymmetric stomach morphogenesis., Wyatt BH,Amin NM,Bagley K,Wcisel DJ,Dush MK,Yoder JA,Nascone-Yoder NM, Development. September 1, 2021; 148(17):1477-9129.

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.

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.

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.

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.

Evidence for a Genotype-Phenotype Correlation in Patients with Pathogenic GLUT2 (SLC2A2) Variants., Grünert SC,Schumann A,Baronio F,Tsiakas K,Murko S,Spiekerkoetter U,Santer R, Genes (Basel). November 10, 2021; 12(11):2073-4425.

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.

Identification of SCN5a p.C335R Variant in a Large Family with Dilated Cardiomyopathy and Conduction Disease., Sedaghat-Hamedani F,Rebs S,El-Battrawy I,Chasan S,Krause T,Haas J,Zhong R,Liao Z,Xu Q,Zhou X,Zhou X,Akin I,Zitron E,Frey N,Streckfuss-Bömeke K,Kayvanpour E, Int J Mol Sci. November 30, 2021; 22(23):1422-0067.

Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates., Szenker-Ravi E,Ott T,Khatoo M,Moreau de Bellaing A,Goh WX,Chong YL,Beckers A,Kannesan D,Louvel G,Anujan P,Ravi V,Bonnard C,Moutton S,Schoen P,Fradin M,Colin E,Megarbane A,Daou L,Chehab G,Di Filippo S,Rooryck C,Deleuze JF,Boland A,Arribard N,Eker R,Tohari S,Ng AY,Rio M,Lim CT,Eisenhaber B,Eisenhaber F,Venkatesh B,Amiel J,Crollius HR,Gordon CT,Gossler A,Roy S,Attie-Bitach T,Blum M,Bouvagnet P,Reversade B, Nat Genet. January 1, 2022; 54(1):1546-1718.

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.

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.

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.

PCD Genes-From Patients to Model Organisms and Back to Humans., Niziolek M,Bicka M,Osinka A,Samsel Z,Sekretarska J,Poprzeczko M,Bazan R,Fabczak H,Joachimiak E,Wloga D, Int J Mol Sci. February 3, 2022; 23(3):1422-0067.

Thyroid Hormone Receptor α Controls the Hind Limb Metamorphosis by Regulating Cell Proliferation and Wnt Signaling Pathways in Xenopus tropicalis., Tanizaki Y,Shibata Y,Zhang H,Shi YB,Shi YB, Int J Mol Sci. January 22, 2022; 23(3):1422-0067.

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.

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.

INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex., Mascibroda LG,Shboul M,Elrod ND,Colleaux L,Hamamy H,Huang KL,Peart N,Singh MK,Lee H,Lee H,Merriman B,Jodoin JN,Sitaram P,Lee LA,Fathalla R,Al-Rawashdeh B,Ababneh O,El-Khateeb M,Escande-Beillard N,Nelson SF,Wu Y,Tong L,Kenney LJ,Roy S,Russell WK,Amiel J,Reversade B,Wagner EJ, Nat Commun. October 13, 2022; 13(1):2041-1723.

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.

Increased Hemichannel Activity Displayed by a Connexin43 Mutation Causing a Familial Connexinopathy Exhibiting Hypotrichosis with Follicular Keratosis and Hyperostosis., Crouthamel OE,Li L,Dilluvio MT,White TW, Int J Mol Sci. January 22, 2023; 24(3):1422-0067.

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.

Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease., Mishra-Gorur K,Barak T,Kaulen LD,Henegariu O,Jin SC,Aguilera SM,Yalbir E,Goles G,Nishimura S,Miyagishima D,Djenoune L,Altinok S,Rai DK,Viviano S,Prendergast A,Zerillo C,Ozcan K,Baran B,Sencar L,Goc N,Yarman Y,Ercan-Sencicek AG,Bilguvar K,Lifton RP,Moliterno J,Louvi A,Yuan S,Deniz E,Brueckner M,Gunel M, Proc Natl Acad Sci U S A. April 18, 2023; 120(16):1091-6490.

The 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.

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.

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.

Small molecule-mediated reprogramming of Xenopus blastula stem cells to a neural crest state., Huber PB,LaBonne C, Dev Biol. January 1, 2024; 505:1095-564X.

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.

Enhanced C-To-T and A-To-G Base Editing in Mitochondrial DNA with Engineered DdCBE and TALED., Wei Y,Jin M,Huang S,Yao F,Ren N,Xu K,Li S,Gao P,Zhou Y,Chen Y,Chen Y,Yang H,Li W,Xu C,Zhang M,Wang X, Adv Sci (Weinh). January 1, 2024; 11(3):2198-3844.

Functional and clinical characterization of a novel homozygous KCNH2 missense variant in the pore region of Kv11.1 leading to a viable but severe long-QT syndrome., Delinière A,Jaupart L,Janin A,Millat G,Boulin T,Andrini O,Chevalier P, Gene. March 1, 2024; 897:1879-0038.

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. December 21, 2023; :1460-2156.

Genetic models of fibrillinopathies., Summers KM, Genetics. January 3, 2024; 226(1):1943-2631.

Amphibian host-defense peptides with potential for Type 2 diabetes therapy - an updated review., Conlon JM,Owolabi BO,Flatt PR,Abdel-Wahab YHA, Peptides. February 22, 2024; 175:1873-5169.