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RAC1 missense mutations in developmental disorders with diverse phenotypes

Abstract:

RAC1 is a widely studied Rho GTPase, a class of molecules that modulate numerous cellular functions essential for normal development. RAC1 is highly conserved across species and is under strict mutational constraint. We report seven individuals with distinct de novo missense RAC1 mutations and varying degrees of developmental delay, brain malformations, and additional phenotypes. Four individuals, each harboring one of c.53G>A (p.Cys18Tyr), c.116A>G (p.Asn39Ser), c.218C>T (p.Pro73Leu...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1016/j.ajhg.2017.08.007

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Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Structural Genomics Consortium
Role:
Author
ORCID:
0000-0001-6959-6007
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Wellcome Trust More from this funder
Rare Disease Foundation More from this funder
Distinguished George W. Brumley Professor More from this funder
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Publisher:
Cell Press Publisher's website
Journal:
American Journal of Human Genetics Journal website
Volume:
101
Issue:
3
Pages:
466-477
Publication date:
2017-09-07
Acceptance date:
2017-08-01
DOI:
ISSN:
0002-9297
Pmid:
28886345
Source identifiers:
729338
Language:
English
Keywords:
Pubs id:
pubs:729338
UUID:
uuid:435bf373-023f-4837-89fd-3110d6f77192
Local pid:
pubs:729338
Deposit date:
2018-01-24

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