Summary Literature (159)

Xenbase Articles :
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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.

Dystroglycan is required for proper retinal layering., Lunardi A,Cremisi F,Dente L, Dev Biol. February 15, 2006; 290(2):1095-564X.

Fanconi anemia proteins are required to prevent accumulation of replication-associated DNA double-strand breaks., Sobeck A,Stone S,Costanzo V,de Graaf B,Reuter T,de Winter J,Wallisch M,Akkari Y,Olson S,Wang W,Joenje H,Christian JL,Lupardus PJ,Cimprich KA,Gautier J,Hoatlin ME, Mol Cell Biol. January 1, 2006; 26(2):1098-5549.

Mutation of single murine acetylcholine receptor subunits reveals differential contribution of P121 to acetylcholine binding and channel opening., Peter C,Korngreen A,Witzemann V, Pflugers Arch. June 1, 2005; 450(3):1432-2013.

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.

The Fanconi anemia gene product FANCF is a flexible adaptor protein., Léveillé F,Blom E,Medhurst AL,Bier P,Laghmani el H,Johnson M,Rooimans MA,Sobeck A,Waisfisz Q,Arwert F,Patel KJ,Hoatlin ME,Joenje H,de Winter JP, J Biol Chem. September 17, 2004; 279(38):1083-351X.

A critical role of Pax6 in alcohol-induced fetal microcephaly., Peng Y,Yang PH,Ng SS,Wong OG,Liu J,He ML,Kung HF,Lin MC, Neurobiol Dis. July 1, 2004; 16(2):1095-953X.

Characterization of embryonic cardiac pacemaker and atrioventricular conduction physiology in Xenopus laevis using noninvasive imaging., Bartlett HL,Scholz TD,Lamb FS,Weeks DL, Am J Physiol Heart Circ Physiol. June 1, 2004; 286(6):0363-6135.

Mouse Zic5 deficiency results in neural tube defects and hypoplasia of cephalic neural crest derivatives., Inoue T,Hatayama M,Tohmonda T,Itohara S,Aruga J,Mikoshiba K, Dev Biol. June 1, 2004; 270(1):1095-564X.

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.

The role of ZIC3 in vertebrate development., Herman GE,El-Hodiri HM, Cytogenet Genome Res. January 1, 2002; 99(1-4):1424-859X.

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.

Progressive atrioventricular conduction defects and heart failure in mice expressing a mutant Csx/Nkx2.5 homeoprotein., Kasahara H,Wakimoto H,Liu M,Maguire CT,Converso KL,Shioi T,Huang WY,Manning WJ,Paul D,Lawitts J,Berul CI,Izumo S, J Clin Invest. July 1, 2001; 108(2):1558-8238.

Left-right asymmetry and cardiac looping: implications for cardiac development and congenital heart disease., Kathiriya IS,Srivastava D, Am J Med Genet. January 1, 2000; 97(4):0148-7299.

Direct inhibition of expressed cardiac l- and t-type calcium channels by igg from mothers whose children have congenital heart block., Xiao GQ,Hu K,Boutjdir M, Circulation. March 20, 2001; 103(11):1524-4539.

The muscle chloride channel ClC-1 has a double-barreled appearance that is differentially affected in dominant and recessive myotonia., Saviane C,Conti F,Pusch M, J Gen Physiol. March 1, 1999; 113(3):1540-7748.

Chloride dependence of hyperpolarization-activated chloride channel gates., Pusch M,Jordt SE,Stein V,Jentsch TJ, J Physiol. March 1, 1999; 515 ( Pt 2):0022-3751.

Molecular mechanisms of vertebrate left-right development., Ramsdell AF,Yost HJ, Trends Genet. November 1, 1998; 14(11):0168-9525.

Reconstitution of functional voltage-gated chloride channels from complementary fragments of CLC-1., Schmidt-Rose T,Jentsch TJ, J Biol Chem. August 15, 1997; 272(33):1083-351X.

Slow-channel transgenic mice: a model of postsynaptic organellar degeneration at the neuromuscular junction., Gomez CM,Maselli R,Gundeck JE,Chao M,Day JW,Tamamizu S,Lasalde JA,McNamee M,Wollmann RL, J Neurosci. June 1, 1997; 17(11):1529-2401.

Molecular basis for decreased muscle chloride conductance in the myotonic goat., Beck CL,Fahlke C,George AL, Proc Natl Acad Sci U S A. October 1, 1996; 93(20):1091-6490.

A transgenic mouse model of the slow-channel syndrome., Gomez CM,Bhattacharyya BB,Charnet P,Day JW,Labarca C,Wollmann RL,Lambert EH, Muscle Nerve. January 1, 1996; 19(1):1097-4598.

Identification, developmental expression and regulation of the Xenopus ortholog of human FANCG/XRCC9., Stone S,Sobeck A,van Kogelenberg M,de Graaf B,Joenje H,Christian J,Hoatlin ME, Genes Cells. July 1, 2007; 12(7):1356-9597.

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.

Genetic and physical interaction between the NPHP5 and NPHP6 gene products., Schäfer T,Pütz M,Lienkamp S,Ganner A,Bergbreiter A,Ramachandran H,Gieloff V,Gerner M,Mattonet C,Czarnecki PG,Sayer JA,Otto EA,Hildebrandt F,Kramer-Zucker A,Walz G, Hum Mol Genet. December 1, 2008; 17(23):1460-2083.

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.

Monoketone analogs of curcumin, a new class of Fanconi anemia pathway inhibitors., Landais I,Hiddingh S,McCarroll M,Yang C,Sun A,Turker MS,Snyder JP,Hoatlin ME, Mol Cancer. December 31, 2009; 8:1476-4598.

The BMP pathway acts to directly regulate Tbx20 in the developing heart., Mandel EM,Kaltenbrun E,Callis TE,Zeng XX,Marques SR,Yelon D,Wang DZ,Conlon FL, Development. June 1, 2010; 137(11):1477-9129.

Potential role of caveolin-1-positive domains in the regulation of the acetylcholine receptor's activatable pool: implications in the pathogenesis of a novel congenital myasthenic syndrome., Báez-Pagán CA,Martínez-Ortiz Y,Otero-Cruz JD,Salgado-Villanueva IK,Velázquez G,Ortiz-Acevedo A,Quesada O,Silva WI,Lasalde-Dominicci JA, Channels (Austin). January 1, 2008; 2(3):1933-6969.

Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning., Fakhro KA,Choi M,Ware SM,Belmont JW,Towbin JA,Lifton RP,Khokha MK,Brueckner M, Proc Natl Acad Sci U S A. February 15, 2011; 108(7):1091-6490.

Xenopus: An emerging model for studying congenital heart disease., Kaltenbrun E,Tandon P,Amin NM,Waldron L,Showell C,Conlon FL, Birth Defects Res A Clin Mol Teratol. June 1, 2011; 91(6):1542-0760.

Examining the cardiac NK-2 genes in early heart development., Bartlett H,Veenstra GJ,Weeks DL, Pediatr Cardiol. April 1, 2010; 31(3):1432-1971.

An essential and highly conserved role for Zic3 in left-right patterning, gastrulation and convergent extension morphogenesis., Cast AE,Gao C,Amack JD,Ware SM, Dev Biol. April 1, 2012; 364(1):1095-564X.

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.

Dominantly inherited myotonia congenita resulting from a mutation that increases open probability of the muscle chloride channel CLC-1., Richman DP,Yu Y,Lee TT,Tseng PY,Yu WP,Maselli RA,Tang CY,Chen TY, Neuromolecular Med. December 1, 2012; 14(4):1559-1174.

Acetylcholine receptor gating in a zebrafish model for slow-channel syndrome., Walogorsky M,Mongeon R,Wen H,Mandel G,Brehm P, J Neurosci. June 6, 2012; 32(23):1529-2401.

Condensins: universal organizers of chromosomes with diverse functions., Hirano T, Genes Dev. August 1, 2012; 26(15):1549-5477.

Embryonic exposure to propylthiouracil disrupts left-right patterning in Xenopus embryos., van Veenendaal NR,Ulmer B,Boskovski MT,Fang X,Khokha MK,Wendler CC,Blum M,Rivkees SA, FASEB J. February 1, 2013; 27(2):1530-6860.

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.

Fanconi anemia proteins FANCD2 and FANCI exhibit different DNA damage responses during S-phase., Sareen A,Chaudhury I,Adams N,Sobeck A, Nucleic Acids Res. September 1, 2012; 40(17):1362-4962.

MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development., Lalani SR,Ware SM,Wang X,Zapata G,Tian Q,Franco LM,Jiang Z,Jiang Z,Bucasas K,Scott DA,Campeau PM,Hanchard N,Umaña L,Cast A,Patel A,Cheung SW,McBride KL,Bray M,Craig Chinault A,Boggs BA,Huang M,Baker MR,Hamilton S,Towbin J,Jefferies JL,Fernbach SD,Potocki L,Belmont JW, Hum Mol Genet. November 1, 2013; 22(21):1460-2083.

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.

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.

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.

PCP and septins compartmentalize cortical actomyosin to direct collective cell movement., Shindo A,Wallingford JB, Science. February 7, 2014; 343(6171):1095-9203.

FANCJ promotes DNA synthesis through G-quadruplex structures., Castillo Bosch P,Segura-Bayona S,Koole W,van Heteren JT,Dewar JM,Tijsterman M,Knipscheer P, EMBO J. November 3, 2014; 33(21):0261-4189.

A Gro/TLE-NuRD corepressor complex facilitates Tbx20-dependent transcriptional repression., Kaltenbrun E,Greco TM,Slagle CE,Kennedy LM,Li T,Cristea IM,Conlon FL, J Proteome Res. December 6, 2013; 12(12):1535-3907.

Regulation of the Rev1-pol ζ complex during bypass of a DNA interstrand cross-link., Budzowska M,Graham TG,Sobeck A,Waga S,Walter JC, EMBO J. July 14, 2015; 34(14):0261-4189.

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.

Identifying Regulators of Morphogenesis Common to Vertebrate Neural Tube Closure and Caenorhabditis elegans Gastrulation., Sullivan-Brown JL,Tandon P,Bird KE,Dickinson DJ,Tintori SC,Heppert JK,Meserve JH,Trogden KP,Orlowski SK,Conlon FL,Goldstein B, Genetics. January 1, 2016; 202(1):1943-2631.

The NIMA-like kinase Nek2 is a key switch balancing cilia biogenesis and resorption in the development of left-right asymmetry., Endicott SJ,Basu B,Khokha M,Brueckner M, Development. December 1, 2015; 142(23):1477-9129.

Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients., Vindas-Smith R,Fiore M,Vásquez M,Cuenca P,Del Valle G,Lagostena L,Gaitán-Peñas H,Estevez R,Pusch M,Morales F, Hum Mutat. January 1, 2016; 37(1):1098-1004.

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.

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

Congenital Heart Disease Genetics Uncovers Context-Dependent Organization and Function of Nucleoporins at Cilia., Del Viso F,Huang F,Myers J,Chalfant M,Zhang Y,Zhang Y,Reza N,Bewersdorf J,Lusk CP,Khokha MK, Dev Cell. September 12, 2016; 38(5):1878-1551.

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.

Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects., Cowan JR,Tariq M,Shaw C,Rao M,Belmont JW,Lalani SR,Smolarek TA,Ware SM, Philos Trans R Soc Lond B Biol Sci. December 19, 2016; 371(1710):1471-2970.

From cytoskeletal dynamics to organ asymmetry: a nonlinear, regulative pathway underlies left-right patterning., McDowell G,Rajadurai S,Levin M, Philos Trans R Soc Lond B Biol Sci. December 19, 2016; 371(1710):1471-2970.

Xenopus, an ideal model organism to study laterality in conjoined twins., Tisler M,Schweickert A,Blum M, 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.

Leftward Flow Determines Laterality in Conjoined Twins., Tisler M,Thumberger T,Schneider I,Schweickert A,Blum M, Curr Biol. February 20, 2017; 27(4):0960-9822.

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

Analysis of Craniocardiac Malformations in Xenopus using Optical Coherence Tomography., Deniz E,Jonas S,Hooper M,N Griffin J,Choma MA,Khokha MK, Sci Rep. February 14, 2017; 7:2045-2322.

Roles of the cilium-associated gene CCDC11 in left-right patterning and in laterality disorders in humans., Gur M,Cohen EB,Genin O,Fainsod A,Perles Z,Cinnamon Y, Int J Dev Biol. January 1, 2017; 61(3-4-5):1696-3547.

Fanconi-Anemia-Associated Mutations Destabilize RAD51 Filaments and Impair Replication Fork Protection., Zadorozhny K,Sannino V,Beláň O,Mlčoušková J,Špírek M,Costanzo V,Krejčí L, Cell Rep. October 10, 2017; 21(2):2211-1247.

Folate-dependent methylation of septins governs ciliogenesis during neural tube closure., Toriyama M,Toriyama M,Wallingford JB,Finnell RH, FASEB J. August 1, 2017; 31(8):1530-6860.

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.

An interspecies heart-to-heart: Using Xenopus to uncover the genetic basis of congenital heart disease., Garfinkel AM,Khokha MK, Curr Pathobiol Rep. June 1, 2017; 5(2):2167-485X.

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.

Genome-wide transcriptomics analysis identifies sox7 and sox18 as specifically regulated by gata4 in cardiomyogenesis., Afouda BA,Lynch AT,de Paiva Alves E,Hoppler S, Dev Biol. February 1, 2018; 434(1):1095-564X.

Evolutionary Proteomics Uncovers Ancient Associations of Cilia with Signaling Pathways., Sigg MA,Menchen T,Lee C,Lee C,Lee C,Johnson J,Jungnickel MK,Choksi SP,Garcia G,Busengdal H,Dougherty GW,Pennekamp P,Werner C,Rentzsch F,Florman HM,Krogan N,Wallingford JB,Omran H,Reiter JF, Dev Cell. December 18, 2017; 43(6):1878-1551.

A Conserved Role of the Unconventional Myosin 1d in Laterality Determination., Tingler M,Kurz S,Maerker M,Ott T,Fuhl F,Schweickert A,LeBlanc-Straceski JM,Noselli S,Blum M, Curr Biol. March 5, 2018; 28(5):0960-9822.

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.

Replication Fork Reversal during DNA Interstrand Crosslink Repair Requires CMG Unloading., Amunugama R,Willcox S,Wu RA,Abdullah UB,El-Sagheer AH,Brown T,McHugh PJ,Griffith JD,Walter JC, Cell Rep. June 19, 2018; 23(12):2211-1247.

Nosip functions during vertebrate eye and cranial cartilage development., Flach H,Krieg J,Hoffmeister M,Dietmann P,Reusch A,Wischmann L,Kernl B,Riegger R,Oess S,Kühl SJ, Dev Dyn. September 1, 2018; 247(9):1058-8388.

Nucleotide receptor P2RY4 is required for head formation via induction and maintenance of head organizer in Xenopus laevis., Harata A,Hirakawa M,Sakuma T,Yamamoto T,Hashimoto C, Dev Growth Differ. February 1, 2019; 61(2):1440-169X.

Spatial and temporal analysis of PCP protein dynamics during neural tube closure., Butler MT,Wallingford JB, Elife. August 6, 2018; 7:2050-084X.

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.

WDR5 Stabilizes Actin Architecture to Promote Multiciliated Cell Formation., Kulkarni SS,Griffin JN,Date PP,Liem KF,Khokha MK, Dev Cell. September 10, 2018; 46(5):1878-1551.

Par3 interacts with Prickle3 to generate apical PCP complexes in the vertebrate neural plate., Chuykin I,Ossipova O,Sokol SY, Elife. September 26, 2018; 7:2050-084X.

WDR5 regulates left-right patterning via chromatin-dependent and -independent functions., Kulkarni SS,Khokha MK, Development. November 28, 2018; 145(23):1477-9129.

HCN2 Rescues brain defects by enforcing endogenous voltage pre-patterns., Pai VP,Pietak A,Willocq V,Ye B,Shi NQ,Levin M, Nat Commun. March 8, 2018; 9(1):2041-1723.

Candidate Heterotaxy Gene FGFR4 Is Essential for Patterning of the Left-Right Organizer in Xenopus., Sempou E,Lakhani OA,Amalraj S,Khokha MK, Front Physiol. January 1, 2018; 9:1664-042X.

FoxN3 is necessary for the development of the interatrial septum, the ventricular trabeculae and the muscles at the head/trunk interface in the African clawed frog, Xenopus laevis (Lissamphibia: Anura: Pipidae)., Naumann B,Schmidt J,Olsson L, Dev Dyn. May 1, 2019; 248(5):1058-8388.

Structural basis of HEAT-kleisin interactions in the human condensin I subcomplex., Hara K,Kinoshita K,Migita T,Murakami K,Shimizu K,Takeuchi K,Hirano T,Hashimoto H, EMBO Rep. May 1, 2019; 20(5):1469-3178.

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.

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.

Alkylglycerol monooxygenase, a heterotaxy candidate gene, regulates left-right patterning via Wnt signaling., Duncan AR,González DP,Del Viso F,Robson A,Khokha MK,Griffin JN, Dev Biol. December 1, 2019; 456(1):1095-564X.

Xenopus: Driving the Discovery of Novel Genes in Patient Disease and Their Underlying Pathological Mechanisms Relevant for Organogenesis., Hwang WY,Marquez J,Khokha MK, Front Physiol. January 1, 2019; 10:1664-042X.

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.

Quantitative Phenotyping of Xenopus Embryonic Heart Pathophysiology Using Hemoglobin Contrast Subtraction Angiography to Screen Human Cardiomyopathies., Deniz E,Jonas S,Khokha MK,Choma MA, Front Physiol. January 1, 2019; 10:1664-042X.

Endoplasmic reticulum transmembrane protein TMTC3 contributes to O-mannosylation of E-cadherin, cellular adherence, and embryonic gastrulation., Graham JB,Sunryd JC,Mathavan K,Weir E,Larsen ISB,Halim A,Clausen H,Cousin H,Alfandari D,Alfandari D,Hebert DN, Mol Biol Cell. February 1, 2020; 31(3):1939-4586.

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.

Disrupted ER membrane protein complex-mediated topogenesis drives congenital neural crest defects., Marquez J,Criscione J,Charney RM,Prasad MS,Hwang WY,Mis EK,García-Castro MI,Khokha MK, J Clin Invest. February 3, 2020; 130(2):1558-8238.

Structural basis of the fanconi anemia-associated mutations within the FANCA and FANCG complex., Jeong E,Lee SG,Kim HS,Yang J,Shin J,Kim Y,Kim J,Schärer OD,Kim Y,Yeo JE,Kim HM,Cho Y, Nucleic Acids Res. April 6, 2020; 48(6):1362-4962.

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

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

Alcohol-derived DNA crosslinks are repaired by two distinct mechanisms., Hodskinson MR,Bolner A,Sato K,Kamimae-Lanning AN,Rooijers K,Witte M,Mahesh M,Silhan J,Petek M,Williams DM,Kind J,Chin JW,Patel KJ,Knipscheer P, Nature. March 1, 2020; 579(7800):0143-5221.

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

Thyroid hormone receptor beta is critical for intestinal remodeling during Xenopus tropicalis metamorphosis., Shibata Y,Tanizaki Y,Shi YB,Shi YB, Cell Biosci. March 27, 2020; 10:2045-3701.

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The neurodevelopmental disorder risk gene DYRK1A is required for ciliogenesis and control of brain size in Xenopus embryos., Willsey HR,Xu Y,Xu Y,Everitt A,Dea J,Exner CRT,Willsey AJ,State MW,Harland RM, Development. June 22, 2020; 147(21):1477-9129.

Altered Glutaminase 1 Activity During Neurulation and Its Potential Implications in Neural Tube Defects., Benavides-Rivas C,Tovar LM,Zúñiga N,Pinto-Borguero I,Retamal C,Yévenes GE,Moraga-Cid G,Fuentealba J,Guzmán L,Coddou C,Bascuñán-Godoy L,Castro PA, Front Pharmacol. April 7, 2020; 11:1663-9812.

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Rare heterozygous GDF6 variants in patients with renal anomalies., Martens H,Hennies I,Getwan M,Christians A,Weiss AC,Brand F,Gjerstad AC,Christians A,Gucev Z,Geffers R,Seeman T,Kispert A,Tasic V,Bjerre A,Lienkamp SS,Haffner D,Weber RG, Eur J Hum Genet. December 1, 2020; 28(12):1476-5438.

SLC20A1 Is Involved in Urinary Tract and Urorectal Development., Rieke JM,Zhang R,Braun D,Yilmaz Ö,Japp AS,Lopes FM,Pleschka M,Hilger AC,Schneider S,Newman WG,Beaman GM,Nordenskjöld A,Ebert AK,Promm M,Rösch WH,Stein R,Hirsch K,Schäfer FM,Schmiedeke E,Boemers TM,Lacher M,Kluth D,Gosemann JH,Anderberg M,Barker G,Holmdahl G,Läckgren G,Keene D,Cervellione RM,Giorgio E,Di Grazia M,Feitz WFJ,Marcelis CLM,Van Rooij IALM,Bökenkamp A,Beckers GMA,Keegan CE,Sharma A,Dakal TC,Wittler L,Grote P,Zwink N,Jenetzky E,Brusco A,Thiele H,Ludwig M,Schweizer U,Woolf AS,Odermatt B,Reutter H, Front Cell Dev Biol. January 1, 2020; 8:2296-634X.

Using an aquatic model, Xenopus laevis, to uncover the role of chromodomain 1 in craniofacial disorders., Wyatt BH,Raymond TO,Lansdon LA,Darbro BW,Murray JC,Manak JR,Dickinson AJG, Genesis. February 1, 2021; 59(1-2):1526-968X.

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TMEM79/MATTRIN defines a pathway for Frizzled regulation and is required for Xenopus embryogenesis., Chen M,Amado N,Tan J,Reis A,Ge M,Abreu JG,He X, Elife. September 14, 2020; 9:2050-084X.

The Stemness Gene Mex3A Is a Key Regulator of Neuroblast Proliferation During Neurogenesis., Naef V,De Sarlo M,Testa G,Corsinovi D,Azzarelli R,Borello U,Ori M, Front Cell Dev Biol. January 1, 2020; 8:2296-634X.

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.

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.

Neural tube closure requires the endocytic receptor Lrp2 and its functional interaction with intracellular scaffolds., Kowalczyk I,Lee C,Lee C,Lee C,Schuster E,Hoeren J,Trivigno V,Riedel L,Görne J,Wallingford JB,Hammes A,Feistel K, Development. January 26, 2021; 148(2):1477-9129.

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.

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.

Functional and Structural Characterization of ClC-1 and Nav1.4 Channels Resulting from CLCN1 and SCN4A Mutations Identified Alone and Coexisting in Myotonic Patients., Brenes O,Barbieri R,Vásquez M,Vindas-Smith R,Roig J,Romero A,Valle GD,Bermúdez-Guzmán L,Bertelli S,Pusch M,Morales F, Cells. February 11, 2021; 10(2):2073-4409.

Compound Heterozygous KCNQ1 Mutations Causing Recessive Romano-Ward Syndrome: Functional Characterization by Mutant Co-expression., González-Garrido A,Domínguez-Pérez M,Jacobo-Albavera L,López-Ramírez O,Guevara-Chávez JG,Zepeda-García O,Iturralde P,Carnevale A,Villarreal-Molina T, Front Cardiovasc Med. February 22, 2021; 8:2297-055X.

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

Bioelectric signaling: Reprogrammable circuits underlying embryogenesis, regeneration, and cancer., Levin M, Cell. April 15, 2021; :1097-4172.

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

Altering metabolite distribution at Xenopus cleavage stages affects left-right gene expression asymmetries., Onjiko RM,Nemes P,Moody SA, Genesis. June 1, 2021; 59(5-6):1526-968X.

A convergent molecular network underlying autism and congenital heart disease., Rosenthal SB,Willsey HR,Xu Y,Xu Y,Mei Y,Dea J,Wang S,Curtis C,Sempou E,Khokha MK,Chi NC,Willsey AJ,Fisch KM,Ideker T, Cell Syst. November 17, 2021; 12(11):2405-4720.

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

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.

E-liquids and vanillin flavoring disrupts retinoic acid signaling and causes craniofacial defects in Xenopus embryos., Dickinson AJG,Turner SD,Wahl S,Kennedy AE,Wyatt BH,Howton DA, Dev Biol. January 1, 2022; 481:1095-564X.

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.

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.

16p12.1 Deletion Orthologs are Expressed in Motile Neural Crest Cells and are Important for Regulating Craniofacial Development in Xenopus laevis., Lasser M,Bolduc J,Murphy L,O'Brien C,Lee S,Girirajan S,Lowery LA, Front Genet. January 1, 2022; 13:1664-8021.

Reduced Retinoic Acid Signaling During Gastrulation Induces Developmental Microcephaly., Gur M,Bendelac-Kapon L,Shabtai Y,Pillemer G,Fainsod A, Front Cell Dev Biol. January 1, 2022; 10:2296-634X.

Global analysis of cell behavior and protein dynamics reveals region-specific roles for Shroom3 and N-cadherin during neural tube closure., Baldwin AT,Kim JH,Seo H,Wallingford JB, Elife. March 4, 2022; 11:2050-084X.

Multistep mechanism of G-quadruplex resolution during DNA replication., Sato K,Martin-Pintado N,Post H,Altelaar M,Knipscheer P, Sci Adv. September 24, 2021; 7(39):2375-2548.

The Ribosomal Protein L5 Functions During Xenopus Anterior Development Through Apoptotic Pathways., Schreiner C,Kernl B,Dietmann P,Riegger RJ,Kühl M,Kühl SJ, Front Cell Dev Biol. January 1, 2022; 10:2296-634X.

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.

Predictive assays for craniofacial malformations: evaluation in Xenopus laevis embryos exposed to triadimefon., Battistoni M,Metruccio F,Di Renzo F,Bacchetta R,Menegola E, Arch Toxicol. October 1, 2022; 96(10):0340-5761.

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.

Mink1 regulates spemann organizer cell fate in the xenopus gastrula via Hmga2., Colleluori V,Khokha MK, Dev Biol. March 1, 2023; 495:1095-564X.

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.

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.

Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome., Blue EE,White JJ,Dush MK,Gordon WW,Wyatt BH,White P,Marvin CT,Helle E,Ojala T,Priest JR,Jenkins MM,Almli LM,Reefhuis J,Pangilinan F,Brody LC,McBride KL,Garg V,Shaw GM,Romitti PA,Nembhard WN,Browne ML,Werler MM,Kay DM,Mital S,Chong JX,Nascone-Yoder NM,Bamshad MJ, HGG Adv. October 12, 2023; 4(4):2666-2477.

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders., Kaiyrzhanov R,Rad A,Lin SJ,Bertoli-Avella A,Kallemeijn WW,Godwin A,Zaki MS,Huang K,Lau T,Petree C,Efthymiou S,Karimiani EG,Hempel M,Normand EA,Rudnik-Schöneborn S,Schatz UA,Baggelaar MP,Ilyas M,Sultan T,Alvi JR,Ganieva M,Fowler B,Aanicai R,Tayfun GA,Al Saman A,Alswaid A,Amiri N,Asilova N,Shotelersuk V,Yeetong P,Azam M,Babaei M,Monajemi GB,Mohammadi P,Samie S,Banu SH,Pinto Basto J,Kortüm F,Bauer M,Bauer P,Beetz C,Garshasbi M,Issa AH,Eyaid W,Ahmed H,Hashemi N,Hassanpour K,Herman I,Ibrohimov S,Abdul-Majeed BA,Imdad M,Isrofilov M,Kaiyal Q,Khan S,Kirmse B,Koster J,Lourenço CM,Mitani T,Moldovan O,Murphy D,Najafi M,Pehlivan D,Rocha ME,Salpietro V,Schmidts M,Shalata A,Mahroum M,Talbeya JK,Taylor RW,Vazquez D,Vetro A,Waterham HR,Zaman M,Schrader TA,Chung WK,Guerrini R,Lupski JR,Gleeson J,Suri M,Jamshidi Y,Bhatia KP,Vona B,Schrader M,Severino M,Guille M,Tate EW,Varshney GK,Houlden H,Maroofian R, Brain. April 4, 2024; 147(4):1460-2156.

Alcohol induces neural tube defects by reducing retinoic acid signaling and promoting neural plate expansion., Edri T,Cohen D,Shabtai Y,Fainsod A, Front Cell Dev Biol. January 1, 2023; 11:2296-634X.

A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus., Singh AK,Allington G,Viviano S,McGee S,Kiziltug E,Ma S,Zhao S,Mekbib KY,Shohfi JP,Duy PQ,DeSpenza T,Furey CG,Reeves BC,Smith H,Sousa AMM,Cherskov A,Allocco A,Nelson-Williams C,Haider S,Rizvi SRA,Alper SL,Sestan N,Shimelis H,Walsh LK,Lifton RP,Moreno-De-Luca A,Jin SC,Kruszka P,Deniz E,Kahle KT, Brain. April 4, 2024; 147(4):1460-2156.

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

SMC5 Plays Independent Roles in Congenital Heart Disease and Neurodevelopmental Disability., O'Brien MP,Pryzhkova MV,Lake EMR,Mandino F,Shen X,Karnik R,Atkins A,Xu MJ,Ji W,Konstantino M,Brueckner M,Ment LR,Khokha MK,Jordan PW, Int J Mol Sci. December 28, 2023; 25(1):1422-0067.

Ibuprofen-induced multiorgan malformation during embryogenesis in Xenopus laevis (FETAX)., Park MJ,Chae JP,Woo D,Kim JY,Kim JY,Bae YC,Lee JY,Lee JY,Lee SY,Nam EJ,Nam SW, Biochem Biophys Res Commun. April 9, 2024; 703:1090-2104.

Developmental regulation of cellular metabolism is required for intestinal elongation and rotation., Grzymkowski JK,Chiu YC,Jima DD,Wyatt BH,Jayachandran S,Stutts WL,Nascone-Yoder NM, Development. February 15, 2024; 151(4):1477-9129.

Noncanonical function of folate through folate receptor 1 during neural tube formation., Balashova OA,Panoutsopoulos AA,Visina O,Selhub J,Knoepfler PS,Borodinsky LN, Nat Commun. February 22, 2024; 15(1):2041-1723.

Prdm15 acts upstream of Wnt4 signaling in anterior neural development of Xenopus laevis., Saumweber E,Mzoughi S,Khadra A,Werberger A,Schumann S,Guccione E,Schmeisser MJ,Kühl SJ, Front Cell Dev Biol. January 1, 2024; 12:2296-634X.

Dyrk1a is required for craniofacial development in Xenopus laevis., Johnson HK,Wahl SE,Sesay F,Litovchick L,Dickinson AJ, Dev Biol. April 13, 2024; :1095-564X.