| Autor: |
Luk, Anderson Dik Wai, Yang, Xingtian, Alcasabas, Ana Patricia, Hao, Roxanne Casis, Chan, Koon‐Wing, Lee, Pamela P., Yang, Jing, Chan, Godfrey Chi‐Fung, So, Jason Chi‐Chiu, Yang, Wanling, Lau, Yu Lung |
| Předmět: |
|
| Zdroj: |
British Journal of Haematology; Apr2020, Vol. 189 Issue 2, pe41-e44, 4p, 1 Diagram, 1 Graph |
| Abstrakt: |
Inherited thrombocytopenias (IT) are genetic diseases that affect platelet production and function, resulting in thrombocytopenia and a tendency for bleeding. Therefore, whole-exome sequencing (WES) was performed on the patient and his mother, which revealed the patient had a homozygous frameshift mutation in I NF-E2 i ( I c.952 i delA, p.T318fsX326), which resulted in a truncated transcription factor NF-E2 45 kDa subunit (p45/NF-E2) (Fig). NF-E2 is a heterodimeric transcription factor formed by p45/NF-E2 and small MAF proteins through the interaction of their basic leucine zipper bZIP domains (Fig) (Levin I et al. i , [13]). Furthermore, a study in humans has shown that the presence of mixed truncated p45/NF-E2 and normal p45/NF-E2 promotes erythropoiesis through enhancing the action of normal p45/NF-E2 in patients with polycythaemia vera (Jutzi I et al. i , [8]). [Extracted from the article] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
|
Plný text