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rdf:type |
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lifeskim:mentions |
umls-concept:C0017337,
umls-concept:C0023467,
umls-concept:C0030705,
umls-concept:C0040624,
umls-concept:C0205341,
umls-concept:C0332281,
umls-concept:C0439661,
umls-concept:C0936012,
umls-concept:C1280500,
umls-concept:C1511473,
umls-concept:C1514562,
umls-concept:C1707513,
umls-concept:C1880389,
umls-concept:C1882417,
umls-concept:C1883204,
umls-concept:C1883221,
umls-concept:C2362652,
umls-concept:C2587213
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pubmed:issue |
1
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pubmed:dateCreated |
2010-12-20
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pubmed:abstractText |
CEBPA-mutated normal karyotype acute myeloid leukemia (AML) has recently been included as a provisional entity in the World Health Organization classification. The CEBPA mutations are heterogeneous, including missense/nonsense base exchanges, frameshift mutations, and insertions/deletions being distributed throughout the gene. One of the genetic alterations within CEBPA (c.1175_1180dup; p.P194_H195dup) was later suggested to represent an inherited polymorphism. As this is not a simple single nucleotide polymorphism, but a six-base pair insertion that leads to a two amino acid elongation of the protein, functional implications cannot be excluded.
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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 |
Jan
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pubmed:issn |
1873-2399
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pubmed:author |
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pubmed:copyrightInfo |
Copyright © 2011 ISEH - Society for Hematology and Stem Cells. Published by Elsevier Inc. All rights reserved.
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pubmed:issnType |
Electronic
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pubmed:volume |
39
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
87-94
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pubmed:meshHeading |
pubmed-meshheading:20888888-Adolescent,
pubmed-meshheading:20888888-Adult,
pubmed-meshheading:20888888-Aged,
pubmed-meshheading:20888888-Aged, 80 and over,
pubmed-meshheading:20888888-CCAAT-Enhancer-Binding Proteins,
pubmed-meshheading:20888888-Case-Control Studies,
pubmed-meshheading:20888888-Female,
pubmed-meshheading:20888888-Gene Dosage,
pubmed-meshheading:20888888-Humans,
pubmed-meshheading:20888888-Karyotyping,
pubmed-meshheading:20888888-Leukemia, Myeloid, Acute,
pubmed-meshheading:20888888-Male,
pubmed-meshheading:20888888-Middle Aged,
pubmed-meshheading:20888888-Mutation,
pubmed-meshheading:20888888-Polymorphism, Genetic,
pubmed-meshheading:20888888-Repetitive Sequences, Nucleic Acid,
pubmed-meshheading:20888888-Transcriptional Activation,
pubmed-meshheading:20888888-Young Adult
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pubmed:year |
2011
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pubmed:articleTitle |
A copy number repeat polymorphism in the transactivation domain of the CEPBA gene is possibly associated with a protective effect against acquired CEBPA mutations: an analysis in 1135 patients with AML and 187 healthy controls.
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pubmed:affiliation |
MLL Munich Leukemia Laboratory, Munich, Germany. Susanne.Schnittger@mll-online.com
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pubmed:publicationType |
Journal Article
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