Mutations inFLNCare Associated with Familial Restrictive Cardiomyopathy-Reference-Cited by-同舟云学术

Mutations inFLNCare Associated with Familial Restrictive Cardiomyopathy

Published:2016-01-08 Issue:3 Volume:37 Page:269-279
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Brodehl Andreas¹,Ferrier Raechel A.²,Hamilton Sara J.³,Greenway Steven C.¹⁴,Brundler Marie-Anne⁴⁵,Yu Weiming⁵,Gibson William T.³⁶,McKinnon Margaret L.³,McGillivray Barbara³,Alvarez Nanette¹,Giuffre Michael¹,Schwartzentruber Jeremy⁷,Gerull Brenda¹²,

Affiliation:

1. Department of Cardiac Sciences; Libin Cardiovascular Institute of Alberta; University of Calgary; Calgary Alberta Canada

2. Department of Medical Genetics; University of Calgary and Alberta Health Services; Calgary Alberta Canada

3. Department of Medical Genetics; University of British Columbia; Vancouver British Columbia Canada

4. Department of Paediatrics; Alberta Children's Hospital Research Institute; University of Calgary; Calgary Alberta Canada

5. Departments of Pathology and Laboratory Medicine; University of Calgary; Calgary Alberta Canada

6. Child and Family Research Institute; Vancouver British Columbia Canada

7. McGill University and Genome Quebec Innovation Centre; Montréal Quebec Canada

Funder

FORGE (Finding of Rare Disease Genes) Canada through Genome Canada

The Canadian Institutes of Health Research and the Ontario Genomics Institute

Alberta Innovates Health Solutions

The Canadian Institutes of Health Research

Libin Cardiovascular Institute of Alberta

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22942/fullpdf

Reference33 articles.

1. Mutations in desmin's carboxy-terminal “tail” domain severely modify filament and network mechanics;Bär;J Mol Biol,2010

2. The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death;Brodehl;Circ Cardiovasc Gen,2013

3. Dual color photoactivation localization microscopy of cardiomyopathy-associated desmin mutants;Brodehl;J Biol Chem,2012

4. Loss of FilaminC (FLNc) results in severe defects in myogenesis and myotube structure;Dalkilic;Mol Cell Biol,2006

5. Restrictive cardiomyopathy in childhood;Denfield;Heart Fail Clin,2010

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