Summary Literature (107)

Xenbase Articles :
( Denotes literature images)

The Na+:Cl- cotransporter is activated and phosphorylated at the amino-terminal domain upon intracellular chloride depletion., Pacheco-Alvarez D,Cristóbal PS,Meade P,Moreno E,Vazquez N,Muñoz E,Díaz A,Juárez ME,Giménez I,Gamba G, J Biol Chem. September 29, 2006; 281(39):1083-351X.

Coupling modes and stoichiometry of Cl-/HCO3- exchange by slc26a3 and slc26a6., Shcheynikov N,Wang Y,Park M,Ko SB,Dorwart M,Naruse S,Thomas PJ,Muallem S, J Gen Physiol. May 1, 2006; 127(5):1540-7748.

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.

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.

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.

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.

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.

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.

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.

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.

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

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

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

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

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.

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.

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.

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.

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

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

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

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

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

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.

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.

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

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.

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.

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.

Disease-associated mutations in CNGB3 promote cytotoxicity in photoreceptor-derived cells., Liu C,Sherpa T,Varnum MD, Mol Vis. June 11, 2013; 19:1090-0535.

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3., Hoff S,Halbritter J,Epting D,Frank V,Nguyen TM,van Reeuwijk J,Boehlke C,Schell C,Yasunaga T,Helmstädter M,Mergen M,Filhol E,Boldt K,Horn N,Ueffing M,Otto EA,Eisenberger T,Elting MW,van Wijk JA,Bockenhauer D,Sebire NJ,Rittig S,Vyberg M,Ring T,Pohl M,Pape L,Neuhaus TJ,Elshakhs NA,Koon SJ,Harris PC,Grahammer F,Huber TB,Kuehn EW,Kramer-Zucker A,Bolz HJ,Roepman R,Saunier S,Walz G,Hildebrandt F,Bergmann C,Lienkamp SS, Nat Genet. August 1, 2013; 45(8):1546-1718.

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

Characterization of SLC26A9 in patients with CF-like lung disease., Bakouh N,Bienvenu T,Thomas A,Ehrenfeld J,Liote H,Roussel D,Duquesnoy P,Farman N,Viel M,Cherif-Zahar B,Amselem S,Taam RA,Edelman A,Planelles G,Sermet-Gaudelus I, Hum Mutat. October 1, 2013; 34(10):1098-1004.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

CFTR supports cell death through ROS-dependent activation of TMEM16F (anoctamin 6)., Simões F,Ousingsawat J,Wanitchakool P,Fonseca A,Cabrita I,Benedetto R,Schreiber R,Kunzelmann K, Pflugers Arch. February 1, 2018; 470(2):1432-2013.

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

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.

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.

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.

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.

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.

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

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

Periodic albinism of a widely used albino mutant of Xenopus laevis caused by deletion of two exons in the Hermansky-Pudlak syndrome type 4 gene., Fukuzawa T, Genes Cells. January 1, 2021; 26(1):1356-9597.

Clinical and molecular characterization of the R751L-CFTR mutation., Haq IJ,Althaus M,Gardner AI,Yeoh HY,Joshi U,Saint-Criq V,Verdon B,Townshend J,O'Brien C,Ben-Hamida M,Thomas M,Bourke S,van der Sluijs P,Braakman I,Ward C,Gray MA,Brodlie M, Am J Physiol Lung Cell Mol Physiol. February 1, 2021; 320(2):1522-1504.

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

Aquatic models of human ciliary diseases., Corkins ME,Krneta-Stankic V,Kloc M,Miller RK, Genesis. February 1, 2021; 59(1-2):1526-968X.

Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome., Mann N,Mzoughi S,Schneider R,Kühl SJ,Schanze D,Klämbt V,Lovric S,Mao Y,Shi S,Tan W,Kühl M,Onuchic-Whitford AC,Treimer E,Kitzler TM,Kause F,Schumann S,Nakayama M,Buerger F,Shril S,van der Ven AT,Majmundar AJ,Holton KM,Kolb A,Braun DA,Rao J,Jobst-Schwan T,Mildenberger E,Lennert T,Kuechler A,Wieczorek D,Gross O,Ermisch-Omran B,Werberger A,Skalej M,Janecke AR,Soliman NA,Mane SM,Lifton RP,Kadlec J,Guccione E,Schmeisser MJ,Zenker M,Hildebrandt F, J Am Soc Nephrol. March 1, 2021; 32(3):1533-3450.

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.

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.

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.

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.

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.

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.

Functional Characterization of a Spectrum of Novel Romano-Ward Syndrome KCNQ1 Variants., Rinné S,Oertli A,Nagel C,Tomsits P,Jenewein T,Kääb S,Kauferstein S,Loewe A,Beckmann BM,Decher N, Int J Mol Sci. January 10, 2023; 24(2):1422-0067.

RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis., Wong S,Tan YX,Loh AYT,Tan KY,Lee H,Lee H,Aziz Z,Nelson SF,Özkan E,Kayserili H,Escande-Beillard N,Reversade B, EMBO Mol Med. May 8, 2023; 15(5):1757-4684.

The histone H4K20 methyltransferase SUV4-20H1/KMT5B is required for multiciliated cell differentiation in Xenopus., Angerilli A,Tait J,Berges J,Shcherbakova I,Pokrovsky D,Schauer T,Smialowski P,Hsam O,Mentele E,Nicetto D,Rupp RA, Life Sci Alliance. July 1, 2023; 6(7):2575-1077.

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.

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.