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Journal article

Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in C. elegans

Abstract:

Twist transcription factors, members of the basic helix-loop-helix family, play crucial roles in mesoderm development in all animals. Humans have two paralogous genes, TWIST1 and TWIST2, and mutations in each gene have been identified in specific craniofacial disorders. Here we describe a new clinical entity, Sweeney-Cox syndrome, associated with distinct de novo amino acid substitutions (p.Glu117Val and p.Glu117Gly) at a highly conserved glutamic acid residue located in the basic DNA binding...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1093/hmg/ddx107

Authors


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Institution:
University of Oxford
Oxford college:
Christ Church
Role:
Author
More from this funder
Name:
National Institute for Health Research Oxford Biomedical Research Centre Programme
Funding agency for:
Wilkie, A
Grant:
Investigator Award 102731
More from this funder
Name:
Wellcome Trust
Funding agency for:
Twigg, S
Wilkie, A
Grant:
093329
Investigator Award 102731
093329
More from this funder
Name:
National Institute for Health Research
Grant:
Oxford Biomedical Research Centre Programme
More from this funder
Name:
Medical Research Council
Grant:
WeatherallInstituteofMolecular MedicineStrategicAlliance(G0902418
MC_UU_12025
More from this funder
Name:
National Institutes of Health
Grant:
Intramural Research Program
Publisher:
Oxford University Press
Journal:
Human Molecular Genetics More from this journal
Volume:
26
Issue:
11
Pages:
2118-2132
Publication date:
2017-03-27
Acceptance date:
2017-03-14
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
Pubs id:
pubs:686357
UUID:
uuid:0b9cf8b9-01b4-43b7-95b4-b9c68ea74406
Local pid:
pubs:686357
Source identifiers:
686357
Deposit date:
2017-03-20

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