Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation
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چکیده
منابع مشابه
Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation.
Point mutations in the 5' UTR of ankyrin repeat domain 26 (ANKRD26) are associated with familial thrombocytopenia 2 (THC2) and a predisposition to leukemia. Here, we identified underlying mechanisms of ANKRD26-associated thrombocytopenia. Using megakaryocytes (MK) isolated from THC2 patients and healthy subjects, we demonstrated that THC2-associated mutations in the 5' UTR of ANKRD26 resulted i...
متن کاملA missense mutation in ANKRD26 segregates with thrombocytopenia.
Lynn R. Goldin Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD Acknowledgments: The authors thank Shiva Ayobi (The National Board of Health and Welfare, Stockholm, Sweden), Susanne Dahllöf (Statistics Sweden, Orebro, Sweden), and Emily Steplowski (Information Management Services, Silver Spring, MD)...
متن کاملMutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.
Until recently, thrombocytopenia 2 (THC2) was considered an exceedingly rare form of autosomal dominant thrombocytopenia and only 2 families were known. However, we recently identified mutations in the 5'-untranslated region of the ANKRD26 gene in 9 THC2 families. Here we report on 12 additional pedigrees with ANKRD26 mutations, 6 of which are new. Because THC2 affected 21 of the 210 families i...
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چکیده ندارد.
15 صفحه اول5’UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia
Thrombocytopenia 2 (THC2) is an inherited disorder caused by monoallelic single nucleotide substitutions in the 5'UTR of the ANKRD26 gene. Patients have thrombocytopenia and increased risk of myeloid malignancies, in particular, acute myeloid leukemia (AML). Given the association of variants in the ANKRD26 5'UTR with myeloid neoplasms, we investigated whether, and to what extent, mutations in t...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 2014
ISSN: 0021-9738
DOI: 10.1172/jci71861