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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2003-5-30
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pubmed:abstractText |
We report here that individuals with Noonan syndrome and juvenile myelomonocytic leukemia (JMML) have germline mutations in PTPN11 and that somatic mutations in PTPN11 account for 34% of non-syndromic JMML. Furthermore, we found mutations in PTPN11 in a small percentage of individuals with myelodysplastic syndrome (MDS) and de novo acute myeloid leukemia (AML). Functional analyses documented that the two most common mutations in PTPN11 associated with JMML caused a gain of function.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
1061-4036
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
34
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
148-50
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pubmed:dateRevised |
2007-11-15
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pubmed:meshHeading |
pubmed-meshheading:12717436-Animals,
pubmed-meshheading:12717436-COS Cells,
pubmed-meshheading:12717436-Child,
pubmed-meshheading:12717436-Humans,
pubmed-meshheading:12717436-Intracellular Signaling Peptides and Proteins,
pubmed-meshheading:12717436-Leukemia, Myeloid, Acute,
pubmed-meshheading:12717436-Leukemia, Myelomonocytic, Acute,
pubmed-meshheading:12717436-Mutation,
pubmed-meshheading:12717436-Myelodysplastic Syndromes,
pubmed-meshheading:12717436-Noonan Syndrome,
pubmed-meshheading:12717436-Protein Tyrosine Phosphatase, Non-Receptor Type 11,
pubmed-meshheading:12717436-Protein Tyrosine Phosphatases,
pubmed-meshheading:12717436-Transfection
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pubmed:year |
2003
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pubmed:articleTitle |
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.
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pubmed:affiliation |
Department of Pediatrics, Mount Sinai School of Medicine, New York, New York, USA.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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