Genetic blindness: current concepts in the pathogenesis of human outer retinal dystrophies

Trends in Genetics : TIG
K Gregory-Evans, S S Bhattacharya

Abstract

Outer retinal dystrophies are the major causes of incurable blindness in the Western world. Understanding the etiology of retinal dystrophies has improved remarkably over the past decade. A number of genes, such as RHO, PDE-beta, RDS, TIMP3, MYO7A, RETGC1, RPGR, CRX and ABCR, are now known to be particularly important. Characterization of the genetic basis for disease is leading to new concepts of pathogenesis at the molecular and cellular levels. Such detailed understanding of disease processes is also stimulating a renewed interest in therapeutic strategies.

References

Oct 1, 1992·Neuron·P R RobinsonD D Oprian
Oct 1, 1991·Proceedings of the National Academy of Sciences of the United States of America·C H SungJ Nathans
Oct 24, 1995·Proceedings of the National Academy of Sciences of the United States of America·T P DryjaK W Yau
Sep 1, 1995·Nature Genetics·S G JacobsonE M Stone
Apr 11, 1995·Proceedings of the National Academy of Sciences of the United States of America·T LiT P Dryja
Jun 1, 1994·Arthritis Care and Research : the Official Journal of the Arthritis Health Professions Association·K O AndersonE J Pisko
Sep 1, 1994·Nature Genetics·G KumaramanickavelA Gal
Mar 15, 1994·Biochemistry·J C SaariN Noy
Jan 1, 1994·The Journal of Cell Biology·J C Reed
Feb 1, 1994·Proceedings of the National Academy of Sciences of the United States of America·C Portera-CailliauR Adler
Feb 1, 1997·Nature Genetics·M M HumphriesP Humphries
Mar 21, 1997·Science·R R de Ruyter van SteveninckW Bialek
Nov 5, 1997·Nature Genetics·F MarlhensC P Hamel
Oct 1, 1995·Physical Review. B, Condensed Matter·A F BarabanovE Zasinas

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Citations

May 2, 2001·Biochemical Pharmacology·J Sondek, D P Siderovski
Jun 8, 2001·Progress in Retinal and Eye Research·J K McBeeD R Pepperberg
Oct 6, 2001·Progress in Retinal and Eye Research·I M Pepe
Feb 3, 2000·Proceedings of the National Academy of Sciences of the United States of America·T WangD Valle
Jul 26, 2011·Journal of Ophthalmology·Jack M SullivanHeba E Abdelmaksoud
Jan 9, 2016·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·Gyu Hyun KimIn-Beom Kim
Sep 27, 2003·The European Journal of Neuroscience·Ronja BahadoriStephan C F Neuhauss
Feb 26, 2000·Annual Review of Genetics·A RattnerJ Nathans
Mar 29, 2001·Experimental Eye Research·J D OchrietorP J Linser
Dec 3, 1999·Biochimica Et Biophysica Acta·I KleinA Váradi
Dec 3, 1999·Biochimica Et Biophysica Acta·C BroccardoG Chimini
Aug 10, 2016·Frontiers in Molecular Neuroscience·Seung Wook ChangIn-Beom Kim
Aug 20, 2016·Neuroreport·Hyung Il KimIn-Beom Kim
Dec 18, 2002·Journal of Neurobiology·Stephan C F Neuhauss
Feb 22, 2002·Human Mutation·Chi Pui Pang, Dennis Shun Chiu Lam
Aug 9, 2003·Molecular Therapy : the Journal of the American Society of Gene Therapy·Alexander J SmithRobin R Ali
Jul 11, 2000·Nature Genetics·T P Sakmar
Feb 24, 2021·Seminars in Ophthalmology·Brian G BalliosRachel M Huckfeldt
Oct 21, 1999·Molecular Genetics and Metabolism·I PerraultJ Kaplan

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