دورية أكاديمية
أعرض في EDS

Prevalence and natural history of variants in the ANKRD26 gene: a short review and update of reported cases

التفاصيل البيبلوغرافية
العنوان: Prevalence and natural history of variants in the ANKRD26 gene: a short review and update of reported cases
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
الوصف
تدمد:09537104
13691635
DOI:10.1080/09537104.2022.2071853