syndrome

Literature (173)

Literature for DOID 225: syndrome

Xenbase Articles Publications associated with this Disease Ontology entry or its descendants

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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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia., Chen H,von Hehn C,Kaczmarek LK,Ment LR,Pober BR,Hisama FM, Neurogenetics. April 1, 2007; 8(2):1364-6745.
FoxM1: at the crossroads of ageing and cancer., Laoukili J,Stahl M,Medema RH, Biochim Biophys Acta. January 1, 2007; 1775(1):0006-3002.
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.
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.
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.
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.
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.
CHD7 cooperates with PBAF to control multipotent neural crest formation., Bajpai R,Chen DA,Rada-Iglesias A,Zhang J,Xiong Y,Helms J,Chang CP,Zhao Y,Swigut T,Wysocka J, Nature. February 18, 2010; 463(7283):0143-5221.
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.
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.
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.
Developmental expression patterns of candidate cofactors for vertebrate six family transcription factors., Neilson KM,Pignoni F,Yan B,Moody SA, Dev Dyn. December 1, 2010; 239(12):1058-8388.
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.
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.
Median facial clefts in Xenopus laevis: roles of retinoic acid signaling and homeobox genes., Kennedy AE,Dickinson AJ, Dev Biol. May 1, 2012; 365(1):1095-564X.
Maternal xNorrin, a canonical Wnt signaling agonist and TGF-β antagonist, controls early neuroectoderm specification in Xenopus., Xu S,Cheng F,Liang J,Wu W,Zhang J, PLoS Biol. January 1, 2012; 10(3):1545-7885.
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.
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.
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.
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 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.
Simple and efficient CRISPR/Cas9-mediated targeted mutagenesis in Xenopus tropicalis., Nakayama T,Fish MB,Fisher M,Oomen-Hajagos J,Thomsen GH,Grainger RM, Genesis. December 1, 2013; 51(12):1526-968X.
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.
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.
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.
CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance., Schulz Y,Wehner P,Opitz L,Salinas-Riester G,Bongers EM,van Ravenswaaij-Arts CM,Wincent J,Schoumans J,Kohlhase J,Borchers A,Pauli S, Hum Genet. August 1, 2014; 133(8):1432-1203.
Systematic discovery of nonobvious human disease models through orthologous phenotypes., McGary KL,Park TJ,Woods JO,Cha HJ,Wallingford JB,Marcotte EM, Proc Natl Acad Sci U S A. April 6, 2010; 107(14):1091-6490.
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.
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.
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.
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.
Insights on the mechanisms of Ca(2+) regulation of connexin26 hemichannels revealed by human pathogenic mutations (D50N/Y)., Lopez W,Gonzalez J,Liu Y,Harris AL,Contreras JE, J Gen Physiol. July 1, 2013; 142(1):1540-7748.
Follicle Online: an integrated database of follicle assembly, development and ovulation., Hua J,Xu B,Yang Y,Yang Y,Ban R,Iqbal F,Cooke HJ,Zhang Y,Zhang Y,Shi Q, Database (Oxford). April 29, 2015; 2015:1758-0463.
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.
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.
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 role of folate metabolism in orofacial development and clefting., Wahl SE,Kennedy AE,Wyatt BH,Moore AD,Pridgen DE,Cherry AM,Mavila CB,Dickinson AJ, Dev Biol. September 1, 2015; 405(1):1095-564X.
ADAM13 cleavage of cadherin-11 promotes CNC migration independently of the homophilic binding site., Abbruzzese G,Becker SF,Kashef J,Alfandari D,Alfandari D, Dev Biol. July 15, 2016; 415(2):1095-564X.
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.
Using frogs faces to dissect the mechanisms underlying human orofacial defects., Dickinson AJ, 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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Identification of Isthmin 1 as a Novel Clefting and Craniofacial Patterning Gene in Humans., Lansdon LA,Darbro BW,Petrin AL,Hulstrand AM,Standley JM,Brouillette RB,Long A,Mansilla MA,Cornell RA,Murray JC,Houston DW,Manak JR, Genetics. January 1, 2018; 208(1):1943-2631.
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.
Sema3a plays a role in the pathogenesis of CHARGE syndrome., Ufartes R,Schwenty-Lara J,Freese L,Neuhofer C,Möller J,Wehner P,van Ravenswaaij-Arts CMA,Wong MTY,Schanze I,Tzschach A,Bartsch O,Borchers A,Pauli S, Hum Mol Genet. April 15, 2018; 27(8):1460-2083.
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.
CRISPR/Cas9 disease models in zebrafish and Xenopus: The genetic renaissance of fish and frogs., Naert T,Vleminckx K,Vleminckx K, Drug Discov Today Technol. August 1, 2018; 28:1740-6749.
A novel GABAergic dysfunction in human Dravet syndrome., Ruffolo G,Cifelli P,Roseti C,Thom M,van Vliet EA,Limatola C,Aronica E,Palma E, Epilepsia. November 1, 2018; 59(11):1528-1167.
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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.

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.

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.

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.

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.

CHD7 cooperates with PBAF to control multipotent neural crest formation., Bajpai R,Chen DA,Rada-Iglesias A,Zhang J,Xiong Y,Helms J,Chang CP,Zhao Y,Swigut T,Wysocka J, Nature. February 18, 2010; 463(7283):0143-5221.

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.

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.

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.

Developmental expression patterns of candidate cofactors for vertebrate six family transcription factors., Neilson KM,Pignoni F,Yan B,Moody SA, Dev Dyn. December 1, 2010; 239(12):1058-8388.

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.

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.

Median facial clefts in Xenopus laevis: roles of retinoic acid signaling and homeobox genes., Kennedy AE,Dickinson AJ, Dev Biol. May 1, 2012; 365(1):1095-564X.

Maternal xNorrin, a canonical Wnt signaling agonist and TGF-β antagonist, controls early neuroectoderm specification in Xenopus., Xu S,Cheng F,Liang J,Wu W,Zhang J, PLoS Biol. January 1, 2012; 10(3):1545-7885.

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.

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.

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.

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 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.

Simple and efficient CRISPR/Cas9-mediated targeted mutagenesis in Xenopus tropicalis., Nakayama T,Fish MB,Fisher M,Oomen-Hajagos J,Thomsen GH,Grainger RM, Genesis. December 1, 2013; 51(12):1526-968X.

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.

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.

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.

CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance., Schulz Y,Wehner P,Opitz L,Salinas-Riester G,Bongers EM,van Ravenswaaij-Arts CM,Wincent J,Schoumans J,Kohlhase J,Borchers A,Pauli S, Hum Genet. August 1, 2014; 133(8):1432-1203.

Systematic discovery of nonobvious human disease models through orthologous phenotypes., McGary KL,Park TJ,Woods JO,Cha HJ,Wallingford JB,Marcotte EM, Proc Natl Acad Sci U S A. April 6, 2010; 107(14):1091-6490.

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.

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.

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.

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.

Insights on the mechanisms of Ca(2+) regulation of connexin26 hemichannels revealed by human pathogenic mutations (D50N/Y)., Lopez W,Gonzalez J,Liu Y,Harris AL,Contreras JE, J Gen Physiol. July 1, 2013; 142(1):1540-7748.

Follicle Online: an integrated database of follicle assembly, development and ovulation., Hua J,Xu B,Yang Y,Yang Y,Ban R,Iqbal F,Cooke HJ,Zhang Y,Zhang Y,Shi Q, Database (Oxford). April 29, 2015; 2015:1758-0463.

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.

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.

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 role of folate metabolism in orofacial development and clefting., Wahl SE,Kennedy AE,Wyatt BH,Moore AD,Pridgen DE,Cherry AM,Mavila CB,Dickinson AJ, Dev Biol. September 1, 2015; 405(1):1095-564X.

ADAM13 cleavage of cadherin-11 promotes CNC migration independently of the homophilic binding site., Abbruzzese G,Becker SF,Kashef J,Alfandari D,Alfandari D, Dev Biol. July 15, 2016; 415(2):1095-564X.

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.

Using frogs faces to dissect the mechanisms underlying human orofacial defects., Dickinson AJ, 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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Identification of Isthmin 1 as a Novel Clefting and Craniofacial Patterning Gene in Humans., Lansdon LA,Darbro BW,Petrin AL,Hulstrand AM,Standley JM,Brouillette RB,Long A,Mansilla MA,Cornell RA,Murray JC,Houston DW,Manak JR, Genetics. January 1, 2018; 208(1):1943-2631.

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.

Sema3a plays a role in the pathogenesis of CHARGE syndrome., Ufartes R,Schwenty-Lara J,Freese L,Neuhofer C,Möller J,Wehner P,van Ravenswaaij-Arts CMA,Wong MTY,Schanze I,Tzschach A,Bartsch O,Borchers A,Pauli S, Hum Mol Genet. April 15, 2018; 27(8):1460-2083.

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.

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

A 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.

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.

Latrophilin2 is involved in neural crest cell migration and placode patterning in Xenopus laevis., Yokote N,Suzuki-Kosaka MY,Michiue T,Hara T,Tanegashima K, Int J Dev Biol. January 1, 2019; 63(1-2):1696-3547.

Loss of function of Kmt2d, a gene mutated in Kabuki syndrome, affects heart development in Xenopus laevis., Schwenty-Lara J,Nürnberger A,Borchers A, Dev Dyn. June 1, 2019; 248(6):1058-8388.

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.

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.

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.

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.

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.

The histone methyltransferase KMT2D, mutated in Kabuki syndrome patients, is required for neural crest cell formation and migration., Schwenty-Lara J,Nehl D,Borchers A, Hum Mol Genet. January 15, 2020; 29(2):1460-2083.

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.

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