CEBPA


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CEBPA

A gene on chromosome 19q13.1 that encodes a transcription factor which binds as a homodimer to various promoters and enhancers, and as a heterodimer to CEBP-beta and CEBP-gamma. CEBP-alpha also interacts with CDK2 and CDK4, inhibiting them and causing growth arrest.
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In conclusion, capsaicin induced apoptosis by activating CASP3 and BAX, and it decreased mRNA expression of adipogenesis-related genes such as PPARG, CEBPA, FABP4, and SCD.
Per expert recommendations on behalf of the ELN published in January 2010, mutation analyses for the presence of mutations in the NPM1, CEBPA, and FLT-3 genes were considered an optional assessment at the time of diagnosis for all patients in our cohort (9).
Based on ELN 2010 guidelines, in addition to mutation testing of the NPM1, CEBPA, and FLT-3 genes, testing for the presence of mutations in other genes such as C-KIT was considered investigational (10).
Isolated mutations of the NPM1 and CEBPA genes offer a favorable prognosis associated with higher complete response rates, reduced relapse risk, and longer overall survival (18, 19).
Strategy for robust detection of insertions, deletions, and point mutations in CEBPA, a GC-rich content gene, using 454 next-generation deep-sequencing technology.
a) Gene class Gene Selected exons Signaling BRAF 11, 15 CBL 8, 9 ETV6 Complete FLT3 20 JAK2 12, 14 KIT 8, 17 KRAS 2, 3 SH2B3 2 MPL 10 NRAS 2, 3 Transcription CEBPA Complete NPM1 11 RUNX1 Complete TP53 Complete WT1 7, 9 Epigenetics ASXL1 12 DNMT3A Complete EZH2 Complete IDH1 4 IDH2 4 TET2 Complete KDM6A Complete RNA splicing SF3B1 12, 13, 14, 15, 16 SRSF2 1, 2 U2AF1 2, 6 ZRSR2 Complete (a) BRAF, v-raf murine sarcoma viral oncogene homolog B1 (synonym: BRAF1); ETV6, ets variant 6 (synonym: TEL); KIT, v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (synonyms: c-Kit, CD117, SCFR); SH2B3, SH2B adaptor protein 3 (synonyms: IDDM20, LNK); WT1, Wilms tumor 1 (synonyms: AWT1, WAGR, ).
Inherited CEBPA mutations are detected and characterized by a combination of PCR amplification and direct sequencing of the coding and junctional regions of the CEBPA gene.
Therefore, we will caution referring physicians and genetic counselors that a negative result is not an absolute guarantee that a family does not carry an inherited CEBPA mutation.
In addition, BloodCenter offers a modified version of CEBPA Mutation Analysis for non-inherited (sporadic) AML.
10-12) These collective observations provided the rationale for the inclusion of AML with mutated NPM1 and AML with mutated CEBPA as provisional entities in the 2008 WHO classification scheme for AML with recurrent genetic abnormalities (Table).
CEBPA is a transcription factor whose function is crucial for the development and differentiation of granulocytes from hematopoietic precursors.
CEBPA mutations span the whole protein coding region, but largely fall within 2 types: N-terminal frameshift mutations that lead to truncation of the full-length p42 CEBPA protein and C-terminal in-frame mutations that affect both the full-length p42 CEBPA protein and a shorter p30 isoform that is normally coexpressed from an alternate internal start codon.