Differential Dimerization of Variants Linked to Enhanced S-Cone Sensitivity Syndrome (ESCS) Located in the NR2E3 Ligand-Binding Domain-Reference-Cited by-同舟云学术

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Differential Dimerization of Variants Linked to Enhanced S-Cone Sensitivity Syndrome (ESCS) Located in the NR2E3 Ligand-Binding Domain

Published:2015-04-27 Issue:6 Volume:36 Page:599-610
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

von Alpen Désirée¹²,Tran Hoai Viet³,Guex Nicolas⁴,Venturini Giulia¹,Munier Francis L.³,Schorderet Daniel F.¹²³,Haider Neena B.⁵,Escher Pascal¹³

Affiliation:

1. IRO-Institute for Research in Ophthalmology; Sion Switzerland

2. EPFL-Ecole Polytechnique Fédérale de Lausanne; Lausanne Switzerland

3. Jules-Gonin Eye Hospital; University of Lausanne; Lausanne Switzerland

4. Swiss Institute of Bioinformatics; Lausanne Switzerland

5. Department of Ophthalmology; Harvard Medical School; Schepens Eye Research Institute; Boston Massachusetts

Funder

Schweizerische Nationalfonds zur Förderung der Wissenschaftlichen Forschung

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference54 articles.

1. A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse;Akhmedov;Proc Natl Acad Sci USA,2000

2. The SWISS-MODEL Workspace: A web-based environment for protein structure homology modelling;Arnold;Bioinformatics,2006

3. Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases;Audo;Orphanet J Rare Dis,2012

4. Phenotypic variation in enhanced S-cone syndrome;Audo;Invest Ophthalmol Vis Sci,2008

5. The spectrum of retinal diseases caused by NR2E3 mutations in Israeli and Palestinian patients;Bandah;Arch Ophthalmol,2009

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2. Bilateral helicoid peri-papillary sub-retinal fibrosis due to a biallelic NR2E3 mutation: Describing variable expressivity of a mutation;European Journal of Ophthalmology;2024-03-05

3. Exploring the Molecular Interaction between Nr2e3 and Nr1d1 in Retinitis Pigmentosa: A Docking and Molecular Dynamics Study;2024

4. Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3): Role in Retinal Development and Disease;Genes;2023-06-23

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