Autosomal dominant retinitis pigmentosa with toxic gain of function: Mechanisms and therapeutics.

Narasimhan, Ishwarya; Murali, Aishwarya; Subramanian, Krishnakumar; Ramalingam, Sivaprakash; Parameswaran, Sowmya

Narasimhan, Ishwarya; Murali, Aishwarya; Subramanian, Krishnakumar; Ramalingam, Sivaprakash; Parameswaran, Sowmya.

Afiliação

Narasimhan I; Radheshyam Kanoi Stem Cell Laboratory, Kamalnayan Bajaj Institute for Research in Vision and Ophthalmology, Vision Research Foundation, Chennai, Tamil Nadu, India.
Murali A; Radheshyam Kanoi Stem Cell Laboratory, Kamalnayan Bajaj Institute for Research in Vision and Ophthalmology, Vision Research Foundation, Chennai, Tamil Nadu, India.
Subramanian K; Radheshyam Kanoi Stem Cell Laboratory, Kamalnayan Bajaj Institute for Research in Vision and Ophthalmology, Vision Research Foundation, Chennai, Tamil Nadu, India.
Ramalingam S; Genomics and Molecular Medicine Unit, Council of Scientific and Industrial Research - Institute of Genomics and Integrative Biology, New Delhi, India.
Parameswaran S; Radheshyam Kanoi Stem Cell Laboratory, Kamalnayan Bajaj Institute for Research in Vision and Ophthalmology, Vision Research Foundation, Chennai, Tamil Nadu, India.

Eur J Ophthalmol ; 31(2): 304-320, 2021 Mar.

Article em En | MEDLINE | ID: mdl-32962414

Assuntos

Mutação com Ganho de Função/genética; Retinose Pigmentar/genética; Retinose Pigmentar/terapia; Genes Dominantes; Humanos; Mutação/genética; Fenótipo

Palavras-chave

Autosomal dominant retinitis pigmentosa; clinical trials; gene mutation; photoreceptors; retina; therapy; toxic gain of function

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Mutação com Ganho de Função Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article

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