Retinal Structure and Function in a Knock-in Mouse Model for the <i>FAM161A-</i>p.Arg523&#8727; Human Nonsense Pathogenic Variant.

Matsevich, Chen; Gopalakrishnan, Prakadeeswari; Obolensky, Alexey; Banin, Eyal; Sharon, Dror; Beryozkin, Avigail

Retinal Structure and Function in a Knock-in Mouse Model for the FAM161A-p.Arg523∗ Human Nonsense Pathogenic Variant.

Matsevich, Chen; Gopalakrishnan, Prakadeeswari; Obolensky, Alexey; Banin, Eyal; Sharon, Dror; Beryozkin, Avigail.

Afiliação

Matsevich C; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Gopalakrishnan P; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Obolensky A; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Banin E; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Sharon D; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Beryozkin A; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.

Ophthalmol Sci ; 3(1): 100229, 2023 Mar.

Article em En | MEDLINE | ID: mdl-36420180

Palavras-chave

Disease course; ELM, external limiting membrane; ERG, electroretinography; Fam161a gene; IHC, immunohistochemistry; IRD, inherited retinal degeneration; ISs, inner segments; KI, knock-in; KO, knock-out; Knock-in mouse model; Nonsense pathogenic variant; ON, optic nerve; ONL, outer nuclear layer; OPL, outer plexiform layer; OSs, outer segments; PCR, polymerase chain reaction; PNA, peanut agglutinin; PTC, premature termination codon; RD, retinal degeneration; RP, retinitis pigmentosa; RT-PCR, reverse transcriptase-polymerase chain reaction; Retinal degeneration; TRIDs, translational read-through inducing drugs; VA, visual acuity; WT, wild type; gRNA, guide RNA; mRNA, messenger RNA

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Ophthalmol Sci Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Israel

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