Distinct Phenotypic Consequences of Pathogenic Mutants Associated with Late-Onset Retinal Degeneration-Reference-Cited by-同舟云学术

Distinct Phenotypic Consequences of Pathogenic Mutants Associated with Late-Onset Retinal Degeneration

Published:2022-10 Issue: Volume: Page:
ISSN:0002-9440
Container-title:The American Journal of Pathology
language:en
Short-container-title:The American Journal of Pathology

Author:

Xu Lei^ORCID,Ruddick William N.^ORCID,Bolch Susan N.,Klingeborn Mikael^ORCID,Dyka Frank M.^ORCID,Kulkarni Manoj M.,Simpson Chiab P.,Beltran William A.^ORCID,Bowes Rickman Catherine^ORCID,Smith W. Clay,Dinculescu Astra^ORCID

Publisher

Elsevier BV

Subject

Pathology and Forensic Medicine

Reference74 articles.

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3. Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation;Ayyagari;Invest Ophthalmol Vis Sci,2005

4. CTRP5 is a membrane-associated and secretory protein in the RPE and ciliary body and the S163R mutation of CTRP5 impairs its secretion;Mandal;Invest Ophthalmol Visual Sci,2006

5. Regulation and function of C1Q/TNF-related protein-5 (CTRP-5) in the context of adipocyte biology;Schmid;Exp Clin Endocrinol Diabetes,2013

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2. An incipient late-onset retinal degeneration with a C1QTNF5 mutation: a case report with an 11-year follow-up;Documenta Ophthalmologica;2023-12-21