A restricted spectrum of NRAS mutations causes Noonan syndrome
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F10%3A6438" target="_blank" >RIV/00064203:_____/10:6438 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/10:6438
Result on the web
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DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
A restricted spectrum of NRAS mutations causes Noonan syndrome
Original language description
Noonan syndrome, a developmental disorder characterized by congenital heart defects, reduced growth, facial dysmorphism and variable cognitive deficits, is caused by constitutional dysregulation of the RAS-MAPK signaling pathway. Here we report that germline NRAS mutations conferring enhanced stimulus-dependent MAPK activation account for some cases of this disorder. These findings provide evidence for an obligate dependency on proper NRAS function in human development and growth.
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
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Result continuities
Project
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Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2010
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Nature Genetics
ISSN
1061-4036
e-ISSN
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Volume of the periodical
42
Issue of the periodical within the volume
1
Country of publishing house
US - UNITED STATES
Number of pages
3
Pages from-to
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UT code for WoS article
000273055100012
EID of the result in the Scopus database
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