A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma-Reference-Cited by-同舟云学术

A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma

Published:2017-06-06 Issue:8 Volume:38 Page:942-946
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Rainger Joe¹^ORCID,Williamson Kathleen A²,Soares Dinesh C²,Truch Julia²,Kurian Dominic¹,Gillessen‐Kaesbach Gabriele³,Seawright Anne²,Prendergast James¹,Halachev Mihail²,Wheeler Ann²,McTeir Lynn¹,Gill Andrew C¹,Heyningen Veronica²,Davey Megan G¹,FitzPatrick David R²,

Affiliation:

1. The Roslin Institute and R(D)SVSUniversity of Edinburgh Easter Bush Campus Midlothian UK

2. MRC Human Genetics Unit, IGMMUniversity of Edinburgh Western General Hospital Edinburgh UK

3. Institut für Humangenetik Lübeck, Universitätsklinikum Schleswig‐Holstein Lübeck Germany

Funder

Fight for Sight

University Of Edinburgh

Wellcome Trust

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23246

Reference23 articles.

1. Expression profiling during ocular development identifies 2 Nlz genes with a critical role in optic fissure closure

2. Expansion of Ocular Phenotypic Features Associated With Mutations inADAMTS18

3. Early Eye Development in Vertebrates

4. Severe forms of Baraitser–Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations

5. Phosphorylation on Ser5 increases the F-actin-binding activity of L-plastin and promotes its targeting to sites of actin assembly in cells

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