| A restricted spectrum of NRAS mutations causes Noonan syndrome. | |
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MedLine Citation:
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PMID: 19966803 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Ion C Cirstea; Kerstin Kutsche; Radovan Dvorsky; Lothar Gremer; Claudio Carta; Denise Horn; Amy E Roberts; Francesca Lepri; Torsten Merbitz-Zahradnik; Rainer König; Christian P Kratz; Francesca Pantaleoni; Maria L Dentici; Victoria A Joshi; Raju S Kucherlapati; Laura Mazzanti; Stefan Mundlos; Michael A Patton; Margherita Cirillo Silengo; Cesare Rossi; Giuseppe Zampino; Cristina Digilio; Liborio Stuppia; Eva Seemanova; Len A Pennacchio; Bruce D Gelb; Bruno Dallapiccola; Alfred Wittinghofer; Mohammad R Ahmadian; Marco Tartaglia; Martin Zenker |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2009-12-06 |
Journal Detail:
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Title: Nature genetics Volume: 42 ISSN: 1546-1718 ISO Abbreviation: Nat. Genet. Publication Date: 2010 Jan |
Date Detail:
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Created Date: 2009-12-28 Completed Date: 2010-02-12 Revised Date: 2011-08-01 |
Medline Journal Info:
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Nlm Unique ID: 9216904 Medline TA: Nat Genet Country: United States |
Other Details:
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Languages: eng Pagination: 27-9 Citation Subset: IM |
Affiliation:
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Institute of Biochemistry and Molecular Biology II, Heinrich-Heine University Medical Center, Düsseldorf, Germany. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Amino Acid Sequence Animals Base Sequence COS Cells Cercopithecus aethiops Child Child, Preschool DNA Mutational Analysis Female Genes, ras* Humans Male Middle Aged Mitogen-Activated Protein Kinases / metabolism Models, Molecular Molecular Sequence Data Mutation* Noonan Syndrome / genetics*, metabolism, pathology Phosphorylation Protein Structure, Tertiary Sequence Homology, Amino Acid Transfection Young Adult ras Proteins / chemistry, genetics* |
| Grant Support | |
ID/Acronym/Agency:
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GGP07115//Telethon; ZIA CP010144-12/CP/NCI NIH HHS |
| Chemical | |
Reg. No./Substance:
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EC 2.7.11.24/Mitogen-Activated Protein Kinases; EC 3.6.5.2/ras Proteins |
| Comments/Corrections | |
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