retinal degeneration

Literature (24)

Literature for DOID 8466: retinal degeneration

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

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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.
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.
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.
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.
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.
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.
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.
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.
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.

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.

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.

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.

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.

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.

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.

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.

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.

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.