rdf:type |
|
lifeskim:mentions |
|
pubmed:issue |
1
|
pubmed:dateCreated |
2004-12-22
|
pubmed:abstractText |
Acquired somatic point mutations in RUNX1/CBFA2/AML1 have recently been described in a subset of patients with myelodysplastic syndrome (MDS) and acute myeloid leukaemia (AML). Given the importance of core-binding factor in megakaryocytic differentiation and platelet production, as well as the central role of megakaryocytes in the pathophysiology of myelofibrosis with myeloid metaplasia (MMM), we hypothesised that RUNX1 gene mutations might be common in MMM. In addition, it is unclear whether patients with MDS-associated acquired alpha thalassaemia (ATMDS), a special subgroup with a very high incidence of point mutations in the ATRX gene, have an especially high incidence of RUNX1 mutations.
|
pubmed:language |
eng
|
pubmed:journal |
|
pubmed:citationSubset |
IM
|
pubmed:chemical |
|
pubmed:status |
MEDLINE
|
pubmed:month |
Jan
|
pubmed:issn |
0902-4441
|
pubmed:author |
|
pubmed:issnType |
Print
|
pubmed:volume |
74
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
47-53
|
pubmed:dateRevised |
2008-11-21
|
pubmed:meshHeading |
pubmed-meshheading:15613106-Base Sequence,
pubmed-meshheading:15613106-Core Binding Factor Alpha 2 Subunit,
pubmed-meshheading:15613106-DNA,
pubmed-meshheading:15613106-DNA Mutational Analysis,
pubmed-meshheading:15613106-DNA-Binding Proteins,
pubmed-meshheading:15613106-Humans,
pubmed-meshheading:15613106-Myelodysplastic Syndromes,
pubmed-meshheading:15613106-Point Mutation,
pubmed-meshheading:15613106-Primary Myelofibrosis,
pubmed-meshheading:15613106-Proto-Oncogene Proteins,
pubmed-meshheading:15613106-Risk Factors,
pubmed-meshheading:15613106-Transcription Factors
|
pubmed:year |
2005
|
pubmed:articleTitle |
Somatic point mutations in RUNX1/CBFA2/AML1 are common in high-risk myelodysplastic syndrome, but not in myelofibrosis with myeloid metaplasia.
|
pubmed:affiliation |
Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, MN 55905, USA. steensma.david@mayo.edu
|
pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't
|