Clonal myelopoiesis in the UK Biobank cohort: ASXL1 mutations are strongly associated with smoking
نویسندگان
چکیده
منابع مشابه
Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases
The ASXL1 gene is one of the most frequently mutated genes in malignant myeloid diseases. The ASXL1 protein belongs to protein complexes involved in the epigenetic regulation of gene expression. ASXL1 mutations are found in myeloproliferative neoplasms (MPN), myelodysplastic syndromes (MDS), chronic myelomonocytic leukemia (CMML) and acute myeloid leukemia (AML). They are generally associated w...
متن کاملCancer-associated ASXL1 mutations may act as gain-of-function mutations of the ASXL1–BAP1 complex
ASXL1 is the obligate regulatory subunit of a deubiquitinase complex whose catalytic subunit is BAP1. Heterozygous mutations of ASXL1 that result in premature truncations are frequent in myeloid leukemias and Bohring-Opitz syndrome. Here we demonstrate that ASXL1 truncations confer enhanced activity on the ASXL1-BAP1 complex. Stable expression of truncated, hyperactive ASXL1-BAP1 complexes in a...
متن کاملPhenotypes associated with female X chromosome aneuploidy in UK Biobank: an unselected, adult, population-based cohort
Women with X chromosome aneuploidy such as 45,X (Turner syndrome) or 47,XXX (Triple X syndrome) present with a range of characteristics including differences in stature, an increased risk of cardiovascular disease and premature ovarian insufficiency. Many women with X chromosome aneuploidy undergo lifetime clinical monitoring for possible complications. However, biased ascertainment of cases ma...
متن کاملCorrection: Characterisation of liver fat in the UK Biobank cohort
[This corrects the article DOI: 10.1371/journal.pone.0172921.].
متن کاملCharacterisation of liver fat in the UK Biobank cohort
Non-alcoholic fatty liver disease and the risk of progression to steatohepatitis, cirrhosis and hepatocellular carcinoma have been identified as major public health concerns. We have demonstrated the feasibility and potential value of measuring liver fat content by magnetic resonance imaging (MRI) in a large population in this study of 4,949 participants (aged 45-73 years) in the UK Biobank ima...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Leukemia
سال: 2020
ISSN: 0887-6924,1476-5551
DOI: 10.1038/s41375-020-0896-8