Document Detail

Biochemical and functional characterization of germ line KRAS mutations.
MedLine Citation:
PMID:  17875937     Owner:  NLM     Status:  MEDLINE    
Germ line missense mutations in HRAS and KRAS and in genes encoding molecules that function up- or downstream of Ras in cellular signaling networks cause a group of related developmental disorders that includes Costello syndrome, Noonan syndrome, and cardiofaciocutaneous syndrome. We performed detailed biochemical and functional studies of three mutant K-Ras proteins (P34R, D153V, and F156L) found in individuals with Noonan syndrome and cardiofaciocutaneous syndrome. Mutant K-Ras proteins demonstrate a range of gain-of-function effects in different cell types, and biochemical analysis supports the idea that the intrinsic Ras guanosine nucleotide triphosphatase (GTPase) activity, the responsiveness of these proteins to GTPase-activating proteins, and guanine nucleotide dissociation all regulate developmental programs in vivo.
Suzanne Schubbert; Gideon Bollag; Natalya Lyubynska; Hoa Nguyen; Christian P Kratz; Martin Zenker; Charlotte M Niemeyer; Anders Molven; Kevin Shannon
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural     Date:  2007-09-17
Journal Detail:
Title:  Molecular and cellular biology     Volume:  27     ISSN:  1098-5549     ISO Abbreviation:  Mol. Cell. Biol.     Publication Date:  2007 Nov 
Date Detail:
Created Date:  2007-10-31     Completed Date:  2008-03-26     Revised Date:  2013-06-06    
Medline Journal Info:
Nlm Unique ID:  8109087     Medline TA:  Mol Cell Biol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  7765-70     Citation Subset:  IM    
Department of Pediatrics, University of California, 513 Parnassus Avenue, HSE 302, San Francisco, California 94143, USA.
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MeSH Terms
Amino Acid Substitution
COS Cells
Cercopithecus aethiops
Genes, ras*
Germ Cells / cytology,  physiology*
Guanosine Triphosphate / metabolism
Mutation, Missense*
Noonan Syndrome
Recombinant Fusion Proteins / genetics,  metabolism
Signal Transduction / physiology*
ras Proteins* / genetics,  metabolism
Grant Support
Reg. No./Substance:
0/Recombinant Fusion Proteins; 86-01-1/Guanosine Triphosphate; EC Proteins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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