retinal disease

Literature (43)

Literature for DOID 5679: retinal disease

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

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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.
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.
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.
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.
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.
Role of peripherin/rds in vertebrate photoreceptor architecture and inherited retinal degenerations., Goldberg AF, Int Rev Cytol. January 1, 2006; 253:0074-7696.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.

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.

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.

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.

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.

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.

Role of peripherin/rds in vertebrate photoreceptor architecture and inherited retinal degenerations., Goldberg AF, Int Rev Cytol. January 1, 2006; 253:0074-7696.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.