Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy-Reference-Cited by-同舟云学术

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Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy

Published:2016-12-15 Issue:12 Volume:11 Page:e0168271
ISSN:1932-6203
Container-title:PLOS ONE
language:en
Short-container-title:PLoS ONE

Author:

Méjécase Cécile,Laurent-Coriat Caroline,Mayer Claudine,Poch Olivier,Mohand-Saïd Saddek,Prévot Camille,Antonio Aline,Boyard Fiona,Condroyer Christel,Michiels Christelle,Blanchard Steven,Letexier Mélanie,Saraiva Jean-Paul,Sahel José-Alain,Audo Isabelle,Zeitz Christina

Funder

Fondation Voir et Entendre

Prix Dalloz for "La recherche en ophtalmologie"

LABEX LIFESENSES

Agence Nationale de la Recherche (FR)

Foundation Fighting Blindness (FR)

Prix de la Fondation de l'Oeil

Ministère de l'Enseignement Supérieur et de la Recherche

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference35 articles.

1. Amplification and kinetics of the activation steps in phototransduction;EN Pugh Jr.;Biochim Biophys Acta,1993

2. Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness;TP Dryja;Nat Genet,1996

3. p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness;V Szabo;Hum Mutat,2007

4. GNAT1 associated with autosomal recessive congenital stationary night blindness;MA Naeem;Invest Ophthalmol Vis Sci,2012

5. Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms;C Zeitz;Prog Retin Eye Res,2015

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4. PHENOTYPIC CHARACTERISTICS OF ROD–CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT;Retina;2020-08

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