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Now showing items 21-30 of 39
Somatic PIK3CA Mutations in Sporadic Cerebral Cavernous Malformations.
(MASSACHUSETTS MEDICAL SOC, 2021-09-09)
BACKGROUND: Cerebral cavernous malformations (CCMs) are common sporadic and inherited vascular malformations of the central nervous system. Although familial CCMs are linked to loss-of-function mutations in KRIT1 (CCM1), ...
The clinical utility of polygenic risk scores for chronic lymphocytic leukemia.
(SPRINGERNATURE, 2021-12-01)
Epidemiology, genetics and treatment of multiple myeloma and precursor diseases.
(WILEY, 2021-12-15)
Multiple myeloma (MM) is a hematological malignancy caused by the clonal expansion of plasma cells. The incidence of MM worldwide is increasing with greater than 140 000 people being diagnosed with MM per year. Whereas ...
Genome-wide association study identifies susceptibility loci for acute myeloid leukemia.
(NATURE PORTFOLIO, 2021-10-29)
Acute myeloid leukemia (AML) is a hematological malignancy with an undefined heritable risk. Here we perform a meta-analysis of three genome-wide association studies, with replication in a fourth study, incorporating a ...
Cancer drivers and clonal dynamics in acute lymphoblastic leukaemia subtypes.
(SPRINGERNATURE, 2021-11-09)
To obtain a comprehensive picture of composite genetic driver events and clonal dynamics in subtypes of paediatric acute lymphoblastic leukaemia (ALL) we analysed tumour-normal whole genome sequencing and expression data ...
Genetic Variation in ABCC4 and CFTR and Acute Pancreatitis during Treatment of Pediatric Acute Lymphoblastic Leukemia.
(MDPI, 2021-10-20)
BACKGROUND: Acute pancreatitis (AP) is a serious, mechanistically not entirely resolved side effect of L-asparaginase-containing treatment for acute lymphoblastic leukemia (ALL). To find new candidate variations for AP, ...
Lack of an association between gallstone disease and bilirubin levels with risk of colorectal cancer: a Mendelian randomisation analysis.
(SPRINGERNATURE, 2021-03-16)
BACKGROUND: Epidemiological studies of the relationship between gallstone disease and circulating levels of bilirubin with risk of developing colorectal cancer (CRC) have been inconsistent. To address possible confounding ...
Weekly COVID-19 testing with household quarantine and contact tracing is feasible and would probably end the epidemic.
(ROYAL SOC, 2020-06-24)
The COVID-19 epidemic can probably be ended and normal life restored, perhaps quite quickly, by weekly SARS-CoV-2 RNA testing together with household quarantine and systematic contact tracing. Isolated outbreaks could then ...
Genetically predicted physical activity levels are associated with lower colorectal cancer risk: a Mendelian randomisation study.
(SPRINGERNATURE, 2021-03-30)
BACKGROUND: We conducted a Mendelian randomisation (MR) study to investigate whether physical activity (PA) causes a reduction of colorectal cancer risk and to understand the contributions of effects mediated through changes ...
Algorithmic considerations when analysing capture Hi-C data.
(2020-01-01)
Chromosome conformation capture methodologies have provided insight into the effect of 3D genomic architecture on gene regulation. Capture Hi-C (CHi-C) is a recent extension of Hi-C that improves the effective resolution ...