TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa-Reference-Cited by-同舟云学术

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TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa

Published:2023-11-08 Issue:21 Volume:8 Page:
ISSN:2379-3708
Container-title:JCI Insight
language:en
Short-container-title:

Author:

Bocquet Béatrice^ORCID,Borday Caroline,Erkilic Nejla,Mamaeva Daria^ORCID,Donval Alicia,Masson Christel,Parain Karine,Kaminska Karolina^ORCID,Quinodoz Mathieu^ORCID,Perea-Romero Irene^ORCID,Garcia-Garcia Gema,Jimenez-Medina Carla,Boukhaddaoui Hassan,Coget Arthur,Leboucq Nicolas,Calzetti Giacomo^ORCID,Gandolfi Stefano,Percesepe Antonio^ORCID,Barili Valeria^ORCID,Uliana Vera^ORCID,Delsante Marco,Bozzetti Francesca^ORCID,Scholl Hendrik P.N.,Corton Marta^ORCID,Ayuso Carmen,Millan Jose M.^ORCID,Rivolta Carlo^ORCID,Meunier Isabelle,Perron Muriel^ORCID,Kalatzis Vasiliki^ORCID

Funder

Fondation de France

Fondation Valentin Haüy

Retina France

France Choroideremia

Aviesan-Unadev

IRRP

Swiss National Science Foundation

Instituto de Salud Carlos III

IIS-FJD BioBank

Comunidad de Madrid

Organización Nacional de Ciegos Españoles

University Chair UAM-IIS-FJD of Genomic Medicine

CIBERER

European Regional Development Fund

European Commission

Publisher

American Society for Clinical Investigation

Subject

General Medicine

Link

https://insight.jci.org/articles/view/169426/files/pdf

Reference55 articles.

1. The molecular basis of human retinal and vitreoretinal diseases

2. Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases

3. Non-syndromic retinitis pigmentosa

4. Molecular genetics and emerging therapies for retinitis pigmentosa: Basic research and clinical perspectives

5. Gene discovery and prevalence in inherited retinal dystrophies

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