No evidence for core-binding factor CBFβ as a leukemia predisposing factor in chromosome 16q22-linked familial AML
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late-onset X-linked sideroblastic anemia in carrier females Familial-skewed X-chromosome inactivation as a predisposing factor for
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متن کاملFamilial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females.
X-linked sideroblastic anemia (XLSA) is caused by mutations in the erythroid-specific 5-aminolevulinic acid synthase (ALAS2) gene. An elderly woman who presented with an acquired sideroblastic anemia is studied. Molecular analysis revealed that she was heterozygous for a missense mutation in the ALAS2 gene, but she expressed only the mutated gene in reticulocytes. Her 2 daughters and a granddau...
متن کاملCore binding factor acute myeloid leukemia (CBF-AML) in México: a single institution experience.
Twenty one patients with CBF-AML presented prospectively in the Centro de Hematología y Medicina Interna de Puebla (Puebla, México) between February 1995 and March 2010, 14 with the t(8;21)(q22;q22) and 7 with the inv(16)(p13;q22)/t(16;16)(p13;q22); they represent 13% of all cases of AML. The median age of the patients was 24 years (range 1 to 61). Seven of 14 patients with t(8;21)(q22;q22) had...
متن کاملCore binding factor genes and human leukemia.
BACKGROUND The core binding factor (CBF) transcription complex, consisting of the interacting proteins RUNX1 and CBFb, is essential for normal hematopoiesis. Recent studies have shown that mutations and gene rearrangements involving this complex are frequently implicated in leukemogenesis. Understanding the molecular events leading to the disruption of CBF has provided important insights into o...
متن کاملTranscriptome Profiling of Pediatric Core Binding Factor AML
The t(8;21) and Inv(16) translocations disrupt the normal function of core binding factors alpha (CBFA) and beta (CBFB), respectively. These translocations represent two of the most common genomic abnormalities in acute myeloid leukemia (AML) patients, occurring in approximately 25% pediatric and 15% of adult with this malignancy. Both translocations are associated with favorable clinical outco...
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ژورنال
عنوان ژورنال: Leukemia
سال: 2004
ISSN: 0887-6924,1476-5551
DOI: 10.1038/sj.leu.2403308