دورية أكاديمية
Prevalence and natural history of variants in the ANKRD26 gene: a short review and update of reported cases
العنوان: | Prevalence and natural history of variants in the ANKRD26 gene: a short review and update of reported cases |
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المؤلفون: | Hrushikesh Vyas, Ahmad Alcheikh, Gillian Lowe, William S Stevenson, Neil V Morgan, David J Rabbolini |
المصدر: | Platelets, Vol 33, Iss 8, Pp 1107-1112 (2022) |
بيانات النشر: | Taylor & Francis Group, 2022. |
سنة النشر: | 2022 |
المجموعة: | LCC:Diseases of the blood and blood-forming organs |
مصطلحات موضوعية: | ankrd26, inherited thrombocytopenia aml, mds, platelet disorder, thrombocytopenia, Diseases of the blood and blood-forming organs, RC633-647.5 |
الوصف: | ANKRD26 is a highly conserved gene located on chromosome 10p12.1 which has shown to play a role in normal megakaryocyte differentiation. ANKRD26-related thrombocytopenia, or thrombocytopenia 2, is an inherited thrombocytopenia with mild bleeding diathesis resulting from point mutations the 5ʹUTR of the ANKRD26 gene. Point mutations in the 5ʹUTR region have been shown to prevent transcription factor-mediated downregulation of ANKRD26 in normal megakaryocyte differentiation. Patients with ANKRD26-related thrombocytopenia have a predisposition to developing hematological malignancies, with acute myeloid leukemia and myelodysplastic syndrome most commonly described in the literature. We review the clinical features and biological mechanisms of ANKRD26-related thrombocytopenia and summarize known cases in the literature. |
نوع الوثيقة: | article |
وصف الملف: | electronic resource |
اللغة: | English |
تدمد: | 0953-7104 1369-1635 09537104 |
Relation: | https://doaj.org/toc/0953-7104; https://doaj.org/toc/1369-1635 |
DOI: | 10.1080/09537104.2022.2071853 |
URL الوصول: | https://doaj.org/article/ea6c4233e9644873a1a25cc447d9c0c1 |
رقم الأكسشن: | edsdoj.6c4233e9644873a1a25cc447d9c0c1 |
قاعدة البيانات: | Directory of Open Access Journals |
تدمد: | 09537104 13691635 |
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DOI: | 10.1080/09537104.2022.2071853 |