Deep Intronic Sequence Variants inCOL2A1Affect the Alternative Splicing Efficiency of Exon 2, and May Confer a Risk for Rhegmatogenous Retinal Detachment-Reference-Cited by-同舟云学术

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Deep Intronic Sequence Variants inCOL2A1Affect the Alternative Splicing Efficiency of Exon 2, and May Confer a Risk for Rhegmatogenous Retinal Detachment

Published:2016-08-21 Issue:10 Volume:37 Page:1085-1096
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Spickett Carl¹²,Hysi Pirro³,Hammond Chistopher J³,Prescott Alan⁴,Fincham Gregory S¹,Poulson Arabella V¹,McNinch Annie M¹²⁵,Richards Allan J¹²⁵,Snead Martin P¹

Affiliation:

1. Vitreoretinal Research Group; Cambridge University NHS Foundation Trust; Cambridge CB2 0QQ UK

2. Department of Pathology; University of Cambridge; Cambridge CB2 1QP UK

3. Academic Unit Ophthalmology, King's College London; London SE1 7EH, UK

4. College of Life Sciences; University of Dundee; Dundee DD1 5EH Scotland UK

5. Regional Molecular Genetics Laboratory; Cambridge University NHS Foundation Trust; Cambridge CB2 0QQ UK

Funder

University of Cambridge Retinal Research Fund; Annie Arnold Research Legacy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference38 articles.

1. Alternative splicing regulation during C. elegans development: splicing factors as regulated targets;Barberan-Soler;PLoS Genet,2008

2. Identification of alternatively spliced variants of type II procollagen in vitreous;Bishop;Biochem Biophys Res Commun,1994

3. Transcriptionally correlated subcellular dynamics of MBNL1 during lens development and their implication for the molecular pathology of myotonic dystrophy type 1;Coleman;Biochem J,2014

4. Antagonistic factors control the unproductive splicing of SC35 terminal intron;Dreumont;Nucleic Acids Res,2010

5. Prevention of retinal detachment in Stickler syndrome: the Cambridge prophylactic cryotherapy protocol;Fincham;Ophthalmology,2014

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1. The genetics and disease mechanisms of rhegmatogenous retinal detachment;Progress in Retinal and Eye Research;2023-11

2. TMEM132D and VIPR2 Polymorphisms as Genetic Risk Loci for Retinal Detachment: A Genome-Wide Association Study and Polygenic Risk Score Analysis;Investigative Opthalmology & Visual Science;2023-09-11

3. A Novel Transcriptome Approach to the Investigation of the Molecular Pathology of Vitreous and Retinal Detachment;Genes;2022-10-18

4. Dominant Stickler Syndrome;Genes;2022-06-18

5. A Novel missense mutation ofCOL2A1gene in a large family with stickler syndrome type I;Journal of Cellular and Molecular Medicine;2022-01-21

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