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Summary Literature (100)
Literature for DOID 5614: eye disease


Xenbase Articles :
( Denotes literature images)
The Wnt-dependent signaling pathways as target in oncology drug discovery., Janssens N,Janicot M,Perera T, Invest New Drugs. July 1, 2006; 24(4):0167-6997.
Dystroglycan is required for proper retinal layering., Lunardi A,Cremisi F,Dente L, Dev Biol. February 15, 2006; 290(2):1095-564X.
A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract., Arora A,Minogue PJ,Liu X,Reddy MA,Ainsworth JR,Bhattacharya SS,Webster AR,Hunt DM,Ebihara L,Moore AT,Beyer EC,Berthoud VM, J Med Genet. January 1, 2006; 43(1):1468-6244.
Neural and eye-specific defects associated with loss of the imitation switch (ISWI) chromatin remodeler in Xenopus laevis., Dirscherl SS,Henry JJ,Krebs JE, Mech Dev. November 1, 2005; 122(11):1872-6356.
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.
Kinetic properties of nuclear transport conferred by the retinoblastoma (Rb) NLS., Hu W,Kemp BE,Jans DA, J Cell Biochem. July 1, 2005; 95(4):0730-2312.
A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects., Dinour D,Chang MH,Satoh J,Smith BL,Smith BL,Angle N,Knecht A,Serban I,Holtzman EJ,Romero MF, J Biol Chem. December 10, 2004; 279(50):1083-351X.
Uncoupling of photoreceptor peripherin/rds fusogenic activity from biosynthesis, subunit assembly, and targeting: a potential mechanism for pathogenic effects., Ritter LM,Boesze-Battaglia K,Tam BM,Moritz OL,Khattree N,Chen SC,Goldberg AF, J Biol Chem. September 17, 2004; 279(38):1083-351X.
Single-channel SCAM identifies pore-lining residues in the first extracellular loop and first transmembrane domains of Cx46 hemichannels., Kronengold J,Trexler EB,Bukauskas FF,Bargiello TA,Verselis VK, J Gen Physiol. October 1, 2003; 122(4):1540-7748.
Zebrafish Cx35: cloning and characterization of a gap junction gene highly expressed in the retina., McLachlan E,White TW,Ugonabo C,Olson C,Nagy JI,Valdimarsson G, J Neurosci Res. September 15, 2003; 73(6):1097-4547.
Opsin activation as a cause of congenital night blindness., Jin S,Cornwall MC,Oprian DD, Nat Neurosci. July 1, 2003; 6(7):1546-1726.
Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy., Robitaille J,MacDonald ML,Kaykas A,Sheldahl LC,Zeisler J,Dubé MP,Zhang LH,Singaraja RR,Guernsey DL,Zheng B,Siebert LF,Hoskin-Mott A,Trese MT,Pimstone SN,Shastry BS,Moon RT,Hayden MR,Goldberg YP,Samuels ME, Nat Genet. October 1, 2002; 32(2):1546-1718.
Investigating the mechanisms of retinal degenerations with antisense oligonucleotides., Jablonski MM, Doc Ophthalmol. May 1, 2001; 102(3):0012-4486.
Molecular mechanism underlying a Cx50-linked congenital cataract., Pal JD,Berthoud VM,Beyer EC,Mackay D,Shiels A,Ebihara L, Am J Physiol. June 1, 1999; 276(6):0002-9513.
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)., Meindl A,Dry K,Herrmann K,Manson F,Ciccodicola A,Edgar A,Carvalho MR,Achatz H,Hellebrand H,Lennon A,Migliaccio C,Porter K,Zrenner E,Bird A,Jay M,Lorenz B,Wittwer B,D'Urso M,Meitinger T,Wright A, Nat Genet. May 1, 1996; 13(1):1546-1718.
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.
Ocular malformations of Xenopus laevis exposed to nickel during embryogenesis., Hauptman O,Albert DM,Plowman MC,Hopfer SM,Sunderman FW, Ann Clin Lab Sci. January 1, 1993; 23(6):0091-7370.
Xenopus fibrillin regulates directed convergence and extension., Skoglund P,Keller R, Dev Biol. January 15, 2007; 301(2):1095-564X.
Eye and neural defects associated with loss of GDF6., Hanel ML,Hensey C, BMC Dev Biol. June 6, 2006; 6:1471-213X.
Role of peripherin/rds in vertebrate photoreceptor architecture and inherited retinal degenerations., Goldberg AF, Int Rev Cytol. January 1, 2006; 253:0074-7696.
Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination., Hilton EN,Manson FD,Urquhart JE,Johnston JJ,Slavotinek AM,Hedera P,Stattin EL,Nordgren A,Biesecker LG,Black GC, Hum Mol Genet. July 15, 2007; 16(14):1460-2083.
Dark rearing rescues P23H rhodopsin-induced retinal degeneration in a transgenic Xenopus laevis model of retinitis pigmentosa: a chromophore-dependent mechanism characterized by production of N-terminally truncated mutant rhodopsin., Tam BM,Moritz OL, J Neurosci. August 22, 2007; 27(34):1529-2401.
A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts., Arora A,Minogue PJ,Liu X,Addison PK,Russel-Eggitt I,Webster AR,Hunt DM,Ebihara L,Beyer EC,Berthoud VM,Moore AT, J Med Genet. March 1, 2008; 45(3):1468-6244.
Xenopus laevis P23H rhodopsin transgene causes rod photoreceptor degeneration that is more severe in the ventral retina and is modulated by light., Zhang R,Oglesby E,Marsh-Armstrong N, Exp Eye Res. April 1, 2008; 86(4):0014-4835.
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.
A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa., den Hollander AI,McGee TL,Ziviello C,Banfi S,Dryja TP,Gonzalez-Fernandez F,Ghosh D,Berson EL, Invest Ophthalmol Vis Sci. April 1, 2009; 50(4):1552-5783.
Novel, potent, and selective GABAC antagonists inhibit myopia development and facilitate learning and memory., Chebib M,Hinton T,Schmid KL,Brinkworth D,Qian H,Matos S,Kim HL,Abdel-Halim H,Kumar RJ,Johnston GA,Hanrahan JR, J Pharmacol Exp Ther. February 1, 2009; 328(2):1521-0103.
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.
An essential role of the cysteine-rich domain of FZD4 in Norrin/Wnt signaling and familial exudative vitreoretinopathy., Zhang K,Harada Y,Wei X,Shukla D,Rajendran A,Tawansy K,Bedell M,Lim S,Shaw PX,He X,Yang Z, J Biol Chem. March 25, 2011; 286(12):1083-351X.
The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family members., Maher GJ,Hilton EN,Urquhart JE,Davidson AE,Spencer HL,Black GC,Manson FD, FEBS Lett. July 21, 2011; 585(14):1873-3468.
Over-expression of atf4 in Xenopus embryos interferes with neurogenesis and eye formation., Liu JT,Yang Y,Yang Y,Guo XG,Chen M,Ding HZ,Chen YL,Chen YL,Wang MR, Dongwuxue Yanjiu. October 1, 2011; 32(5):2095-8137.
An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract., Senthil Kumar G,Kyle JW,Minogue PJ,Dinesh Kumar K,Vasantha K,Berthoud VM,Beyer EC,Santhiya ST, Exp Eye Res. May 1, 2013; 110:0014-4835.
The Xenopus Tgfbi is required for embryogenesis through regulation of canonical Wnt signalling., Wang F,Hu W,Xian J,Ohnuma S,Brenton JD, Dev Biol. July 1, 2013; 379(1):1095-564X.
Functional analysis of missense mutations in Kv8.2 causing cone dystrophy with supernormal rod electroretinogram., Smith KE,Wilkie SE,Tebbs-Warner JT,Jarvis BJ,Gallasch L,Stocker M,Hunt DM, J Biol Chem. December 21, 2012; 287(52):1083-351X.
Bcl6a function is required during optic cup formation to prevent p53-dependent apoptosis and colobomata., Lee J,Lee J,Lee BK,Gross JM, Hum Mol Genet. September 1, 2013; 22(17):1460-2083.
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.
Functional characterization of an AQP0 missense mutation, R33C, that causes dominant congenital lens cataract, reveals impaired cell-to-cell adhesion., Kumari SS,Gandhi J,Mustehsan MH,Eren S,Varadaraj K, Exp Eye Res. November 1, 2013; 116:0014-4835.
The severe autosomal dominant retinitis pigmentosa rhodopsin mutant Ter349Glu mislocalizes and induces rapid rod cell death., Hollingsworth TJ,Gross AK, J Biol Chem. October 4, 2013; 288(40):1083-351X.
The retinal pigment epithelium: an important player of retinal disorders and regeneration., Chiba C, Exp Eye Res. June 1, 2014; 123:0014-4835.
A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome., Rienhoff HY,Yeo CY,Morissette R,Khrebtukova I,Melnick J,Luo S,Leng N,Kim YJ,Schroth G,Westwick J,Vogel H,McDonnell N,Hall JG,Whitman M, Am J Med Genet A. August 1, 2013; 161A(8):1552-4833.
Transmembrane water-flux through SLC4A11: a route defective in genetic corneal diseases., Vilas GL,Loganathan SK,Liu J,Riau AK,Young JD,Mehta JS,Vithana EN,Casey JR, Hum Mol Genet. November 15, 2013; 22(22):1460-2083.
CNGA3 achromatopsia-associated mutation potentiates the phosphoinositide sensitivity of cone photoreceptor CNG channels by altering intersubunit interactions., Dai G,Varnum MD, Am J Physiol Cell Physiol. July 15, 2013; 305(2):1522-1563.
Multi-functional norrin is a ligand for the LGR4 receptor., Deng C,Reddy P,Cheng Y,Luo CW,Hsiao CL,Hsueh AJ, J Cell Sci. May 1, 2013; 126(Pt 9):1477-9137.
A potential molecular pathogenesis of cardiac/laterality defects in Oculo-Facio-Cardio-Dental syndrome., Tanaka K,Kato A,Angelocci C,Watanabe M,Kato Y, Dev Biol. March 1, 2014; 387(1):1095-564X.
Fgfr signaling is required as the early eye field forms to promote later patterning and morphogenesis of the eye., Atkinson-Leadbeater K,Hehr CL,McFarlane S, Dev Dyn. May 1, 2014; :1058-8388.
Photoactivation-induced instability of rhodopsin mutants T4K and T17M in rod outer segments underlies retinal degeneration in X. laevis transgenic models of retinitis pigmentosa., Tam BM,Noorwez SM,Kaushal S,Kono M,Moritz OL, J Neurosci. October 1, 2014; 34(40):1529-2401.
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.
Stoichiometry and specific assembly of Best ion channels., Bharill S,Fu Z,Palty R,Isacoff EY, Proc Natl Acad Sci U S A. April 29, 2014; 111(17):1091-6490.
The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter., Abplanalp J,Laczko E,Philp NJ,Neidhardt J,Zuercher J,Braun P,Schorderet DF,Munier FL,Verrey F,Berger W,Camargo SM,Kloeckener-Gruissem B, Hum Mol Genet. August 15, 2013; 22(16):1460-2083.
Distinct patterns of compartmentalization and proteolytic stability of PDE6C mutants linked to achromatopsia., Cheguru P,Majumder A,Artemyev NO, Mol Cell Neurosci. January 1, 2015; 64:1044-7431.
Osmostress-induced apoptosis in Xenopus oocytes: role of stress protein kinases, calpains and Smac/DIABLO., Ben Messaoud N,Yue J,Valent D,Katzarova I,López JM, PLoS One. January 1, 2015; 10(4):1932-6203.
Xenopus pax6 mutants affect eye development and other organ systems, and have phenotypic similarities to human aniridia patients., Nakayama T,Fisher M,Fisher M,Nakajima K,Odeleye AO,Zimmerman KB,Zimmerman KB,Fish MB,Yaoita Y,Chojnowski JL,Lauderdale JD,Netland PA,Grainger RM, Dev Biol. December 15, 2015; 408(2):1095-564X.
Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model., Pfirrmann T,Emmerich D,Ruokonen P,Quandt D,Buchen R,Fischer-Zirnsak B,Hecht J,Krawitz P,Meyer P,Klopocki E,Stricker S,Lausch E,Seliger B,Hollemann T,Reinhard T,Auw-Haedrich C,Zabel B,Hoffmann K,Villavicencio-Lorini P, Hum Mol Genet. June 1, 2015; 24(11):1460-2083.
The UNC-45 myosin chaperone: from worms to flies to vertebrates., Lee CF,Lee CF,Lee CF,Melkani GC,Bernstein SI, Int Rev Cell Mol Biol. January 1, 2014; 313:1937-6448.
Novel BCOR mutation in a boy with Lenz microphthalmia/oculo-facio-cardio-dental (OFCD) syndrome., Zhu X,Dai FR,Wang J,Zhang Y,Zhang Y,Tan ZP,Zhang Y,Zhang Y, Gene. October 15, 2015; 571(1):1879-0038.
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.
The cataract related mutation N188T in human connexin46 (hCx46) revealed a critical role for residue N188 in the docking process of gap junction channels., Schadzek P,Schlingmann B,Schaarschmidt F,Lindner J,Koval M,Heisterkamp A,Preller M,Ngezahayo A, Biochim Biophys Acta. January 1, 2016; 1858(1):0006-3002.
CRISPR/Cas9 mediated knockout of rb1 and rbl1 leads to rapid and penetrant retinoblastoma development in Xenopus tropicalis., Naert T,Colpaert R,Van Nieuwenhuysen T,Dimitrakopoulou D,Leoen J,Haustraete J,Boel A,Steyaert W,Lepez T,Deforce D,Willaert A,Creytens D,Vleminckx K,Vleminckx K, Sci Rep. October 14, 2016; 6:2045-2322.
Functional assessment of SLC4A11, an integral membrane protein mutated in corneal dystrophies., Loganathan SK,Schneider HP,Morgan PE,Deitmer JW,Casey JR, Am J Physiol Cell Physiol. November 1, 2016; 311(5):1522-1563.
An Epha4/Sipa1l3/Wnt pathway regulates eye development and lens maturation., Rothe M,Kanwal N,Dietmann P,Seigfried FA,Hempel A,Schütz D,Reim D,Engels R,Linnemann A,Schmeisser MJ,Bockmann J,Kühl M,Boeckers TM,Kühl SJ, Development. January 15, 2017; 144(2):1477-9129.
TALENs and CRISPR/Cas9 fuel genetically engineered clinically relevant Xenopus tropicalis tumor models., Naert T,Van Nieuwenhuysen T,Vleminckx K,Vleminckx K, Genesis. January 1, 2017; 55(1-2):1526-968X.
Opposing Effects of Valproic Acid Treatment Mediated by Histone Deacetylase Inhibitor Activity in Four Transgenic X. laevis Models of Retinitis Pigmentosa., Vent-Schmidt RYJ,Wen RH,Zong Z,Chiu CN,Tam BM,May CG,Moritz OL, J Neurosci. January 25, 2017; 37(4):1529-2401.
Using Xenopus to understand human disease and developmental disorders., Sater AK,Moody SA, Genesis. January 1, 2017; 55(1-2):1526-968X.
Co-accumulation of cis-regulatory and coding mutations during the pseudogenization of the Xenopus laevis homoeologs six6.L and six6.S., Ochi H,Kawaguchi A,Tanouchi M,Suzuki N,Kumada T,Iwata Y,Ogino H, Dev Biol. July 1, 2017; 427(1):1095-564X.
Modeling Dominant and Recessive Forms of Retinitis Pigmentosa by Editing Three Rhodopsin-Encoding Genes in Xenopus Laevis Using Crispr/Cas9., Feehan JM,Chiu CN,Stanar P,Tam BM,Ahmed SN,Moritz OL, Sci Rep. July 31, 2017; 7(1):2045-2322.
Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147., Stäubli A,Capatina N,Fuhrer Y,Munier FL,Labs S,Schorderet DF,Tiwari A,Verrey F,Heon E,Cheng CY,Wong TY,Berger W,Camargo SMR,Kloeckener-Gruissem B, Hum Mol Genet. November 1, 2017; 26(21):1460-2083.
Polymorphism of the LIG3 gene in keratoconus and Fuchs endothelial corneal dystrophy., Synowiec E,Wojcik KA,Izdebska J,Binczyk E,Szaflik J,Blasiak J,Szaflik JP, Cell Mol Biol (Noisy-le-grand). March 28, 2015; 61(1):0145-5680.
A novel MIP mutation in a Chinese family with congenital cataract., Yuan C,Han T,Su P,Liu M,Zhou X,Zhou X,Zhang D,Jia W,Wang A,Yue M,Xiang Z,Chen L,Zhang X, Ophthalmic Genet. August 1, 2018; 39(4):1744-5094.
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.
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.
Retinal tissue preparation for high-resolution live imaging of photoreceptors expressing multiple transgenes., Haeri M,Zhuo X,Haeri M,Knox BE, MethodsX. March 16, 2018; 5:2215-0161.
Electrophysiological Changes During Early Steps of Retinitis Pigmentosa., Bocchero U,Tam BM,Chiu CN,Torre V,Moritz OL, Invest Ophthalmol Vis Sci. March 1, 2019; 60(4):1552-5783.
NA3 glycan: a potential therapy for retinal pigment epithelial deficiency., Chintalapudi SR,Wang X,Wang X,Shi Y,Shi Y,Kocak M,Palamoor M,Davis RN,Hollingsworth TJ,Jablonski MM, FEBS J. December 1, 2019; 286(24):1742-4658.
Understanding cornea homeostasis and wound healing using a novel model of stem cell deficiency in Xenopus., Adil MT,Simons CM,Sonam S,Henry JJ, Exp Eye Res. October 1, 2019; 187:0014-4835.
BAP1 regulates epigenetic switch from pluripotency to differentiation in developmental lineages giving rise to BAP1-mutant cancers., Kuznetsov JN,Aguero TH,Owens DA,Kurtenbach S,Field MG,Durante MA,Rodriguez DA,King ML,Harbour JW, Sci Adv. September 18, 2019; 5(9):2375-2548.
Volume sensing in the transient receptor potential vanilloid 4 ion channel is cell type-specific and mediated by an N-terminal volume-sensing domain., Toft-Bertelsen TL,Yarishkin O,Redmon S,Phuong TTT,Križaj D,MacAulay N, J Biol Chem. November 29, 2019; 294(48):1083-351X.
Modeling ocular lens disease in Xenopus., Viet J,Reboutier D,Hardy S,Lachke SA,Paillard L,Gautier-Courteille C, Dev Dyn. May 1, 2020; 249(5):1058-8388.
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.
RBL1 (p107) functions as tumor suppressor in glioblastoma and small-cell pancreatic neuroendocrine carcinoma in Xenopus tropicalis., Naert T,Dimitrakopoulou D,Tulkens D,Demuynck S,Carron M,Noelanders R,Eeckhout L,Van Isterdael G,Deforce D,Vanhove C,Van Dorpe J,Creytens D,Vleminckx K,Vleminckx K, Oncogene. March 1, 2020; 39(13):0950-9232.
RPE Cells Engulf Microvesicles Secreted by Degenerating Rod Photoreceptors., Ropelewski P,Imanishi Y, eNeuro. January 1, 2020; 7(3):2373-2822.
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.
FAM46B is a prokaryotic-like cytoplasmic poly(A) polymerase essential in human embryonic stem cells., Hu JL,Liang H,Zhang H,Yang MZ,Sun W,Zhang P,Luo L,Feng JX,Bai H,Liu F,Zhang T,Yang JY,Gao Q,Long Y,Ma XY,Chen Y,Chen Y,Zhong Q,Yu B,Liao S,Wang Y,Zhao Y,Zeng MS,Cao N,Wang J,Chen W,Yang HT,Gao S, Nucleic Acids Res. March 18, 2020; 48(5):1362-4962.
pH dependence of the Slc4a11-mediated H+ conductance is influenced by intracellular lysine residues and modified by disease-linked mutations., Quade BN,Marshall A,Parker MD, Am J Physiol Cell Physiol. August 1, 2020; 319(2):1522-1563.
Sprouty2 regulates positioning of retinal progenitors through suppressing the Ras/Raf/MAPK pathway., Sun J,Yoon J,Lee M,Hwang YS,Daar IO, Sci Rep. August 13, 2020; 10(1):2045-2322.
Acute consequences of a unilateral VIIIth nerve transection on vestibulo-ocular and optokinetic reflexes in Xenopus laevis tadpoles., Soupiadou P,Gordy C,Forsthofer M,Sanchez-Gonzalez R,Straka H, J Neurol. December 1, 2020; 267(Suppl 1):1432-1459.
Dual Screen for Efficacy and Toxicity Identifies HDAC Inhibitor with Distinctive Activity Spectrum for BAP1-Mutant Uveal Melanoma., Kuznetsoff JN,Owens DA,Lopez A,Rodriguez DA,Chee NT,Kurtenbach S,Bilbao D,Roberts ER,Volmar CH,Wahlestedt C,Brothers SP,Harbour JW, Mol Cancer Res. February 1, 2021; 19(2):1557-3125.
Structural bioinformatics predicts that the Retinitis Pigmentosa-28 protein of unknown function FAM161A is a homologue of the microtubule nucleation factor Tpx2., Levine TP, F1000Res. January 1, 2020; 9:2046-1402.
Distinct roles for prominin-1 and photoreceptor cadherin in outer segment disc morphogenesis in CRISPR-altered X. laevis., Carr BJ,Stanar P,Moritz OL, J Cell Sci. January 11, 2021; 134(1):1477-9137.
Retinol binding protein 1 affects Xenopus anterior neural development via all-trans retinoic acid signaling., Flach H,Basten T,Schreiner C,Dietmann P,Greco S,Nies L,Roßmanith N,Walter S,Kühl M,Kühl SJ, Dev Dyn. August 1, 2021; 250(8):1058-8388.
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.
Modeling human congenital disorders with neural crest developmental defects using patient-derived induced pluripotent stem cells., Okuno H,Okano H, Regen Ther. August 24, 2021; 18:2352-3204.
Membrane cholesterol regulates TRPV4 function, cytoskeletal expression, and the cellular response to tension., Lakk M,Hoffmann GF,Gorusupudi A,Enyong E,Lin A,Bernstein PS,Toft-Bertelsen T,MacAulay N,Elliott MH,Križaj D, J Lipid Res. January 1, 2021; 62:0022-2275.
Molecular mechanisms underlying enhanced hemichannel function of a cataract-associated Cx50 mutant., Tong JJ,Khan U,Haddad BG,Minogue PJ,Beyer EC,Berthoud VM,Reichow SL,Ebihara L, Biophys J. December 21, 2021; 120(24):1542-0086.
CRISPR/Cas9-Mediated Models of Retinitis Pigmentosa Reveal Differential Proliferative Response of Müller Cells between Xenopus laevis and Xenopus tropicalis., Parain K,Lourdel S,Donval A,Chesneau A,Borday C,Bronchain O,Locker M,Perron M, Cells. February 25, 2022; 11(5):2073-4409.
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.
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.
Age-associated DNA methylation changes in Xenopus frogs., Morselli M,Bennett R,Shaidani NI,Horb M,Peshkin L,Pellegrini M, Epigenetics. December 1, 2023; 18(1):1559-2308.
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa., Bocquet B,Borday C,Erkilic N,Mamaeva D,Donval A,Masson C,Parain K,Kaminska K,Quinodoz M,Perea-Romero I,Garcia-Garcia G,Jimenez-Medina C,Boukhaddaoui H,Coget A,Leboucq N,Calzetti G,Gandolfi S,Percesepe A,Barili V,Uliana V,Delsante M,Bozzetti F,Scholl HP,Corton M,Ayuso C,Millan JM,Rivolta C,Meunier I,Perron M,Kalatzis V, JCI Insight. November 8, 2023; 8(21):2379-3708.
Genetic models of fibrillinopathies., Summers KM, Genetics. January 3, 2024; 226(1):1943-2631.