Journal article icon

Journal article

When signalling goes wrong: pathogenic variants in structural and signalling proteins causing cardiomyopathies

Abstract:

Cardiomyopathies are a diverse group of cardiac disorders with distinct phenotypes, depending on the proteins and pathways affected. A substantial proportion of cardiomyopathies are inherited and those will be the focus of this review article. With the wide application of high-throughput sequencing in the practice of clinical genetics, the roles of novel genes in cardiomyopathies are recognised. Here, we focus on a subgroup of cardiomyopathy genes [TTN, FHL1, CSRP3, FLNC and PLN, coding for T...

Expand abstract
Publication status:
Published
Peer review status:
Peer reviewed

Actions


Access Document


Files:
Publisher copy:
10.1007/s10974-017-9487-3

Authors


More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
RDM; RDM Cardiovascular Medicine
Role:
Author
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
RDM; RDM Cardiovascular Medicine
Role:
Author
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
RDM; RDM Cardiovascular Medicine
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
RDM Cardiovascular Medicine
Role:
Author
More from this funder
Funding agency for:
Ehsan, M
More from this funder
Funding agency for:
Jiang, H
Grant:
201543/B/16/Z
More from this funder
Funding agency for:
Thomson, K
Grant:
NIHR-HCS-D13-04-006
More from this funder
Funding agency for:
Gehmlich, K
Grant:
201543/B/16/Z
More from this funder
Funding agency for:
Gehmlich, K
Grant:
201543/B/16/Z
Publisher:
Springer Verlag Publisher's website
Journal:
Journal of Muscle Research and Cell Motility Journal website
Volume:
38
Issue:
3-4
Pages:
306-316
Publication date:
2017-11-08
Acceptance date:
2017-10-28
DOI:
EISSN:
1573-2657
ISSN:
0142-4319
Source identifiers:
745095
Keywords:
Pubs id:
pubs:745095
UUID:
uuid:325245c1-e224-4496-98e8-f0ab30cdfcdb
Local pid:
pubs:745095
Deposit date:
2017-11-13

Terms of use


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP