Results 31 to 40 of about 1,061,050 (301)
QuaDMutEx: quadratic driver mutation explorer
BMC Bioinformatics, 2017 Background Somatic mutations accumulate in human cells throughout life. Some may have no adverse consequences, but some of them may lead to cancer. A cancer genome is typically unstable, and thus more mutations can accumulate in the DNA of cancer cells ...
Yahya Bokhari, Tomasz Arodz
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Gene characteristics predicting missense, nonsense and frameshift mutations in tumor samples
BMC Bioinformatics, 2018 Background Because driver mutations provide selective advantage to the mutant clone, they tend to occur at a higher frequency in tumor samples compared to selectively neutral (passenger) mutations.
Ivan P. Gorlov +9 more
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PLoS Genetics, 2022 Most somatic mutations that arise during normal development are present at low levels in single or multiple tissues depending on the developmental stage and affected organs.
Ja Hye Kim +12 more
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Low frequency of somatic mutations in the FH/multiple cutaneous leiomyomatosis gene in sporadic leiomyosarcomas and uterine leiomyomas. [PDF]
, 2002 Germline mutations in the fumarate hydratase gene at 1q43 predispose to dominantly inherited skin and uterine leiomyomata and leiomyosarcomas. The enzyme, which is a component of the tricarboxylic acid cycle, acts as a tumour suppressor.
Flanagan, AM +19 more
core +1 more source
, 2021 We characterize the landscape of somatic mutations-mutations occurring after fertilization-in the human brain using ultra-deep (~250×) whole-genome sequencing of prefrontal cortex from 59 donors with autism spectrum disorder (ASD) and 15 control donors ...
Walsh, Christopher A. +2 more
core +1 more source
Comparison of Germline versus Somatic BAP1 Mutations for Risk of Metastasis in Uveal Melanoma
BMC Cancer, 2018 Background Germline mutations in BAP1 have been associated with BAP1-Tumor Predisposition Syndrome (BAP1-TPDS), a predisposition to multiple tumors within a family that includes uveal melanoma (UM), cutaneous melanoma, malignant mesothelioma and renal ...
K. G. Ewens +4 more
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Age-related somatic mutation burden in human tissues
Frontiers in Aging, 2022 The genome of multicellular organisms carries the hereditary information necessary for the development of all organs and tissues and to maintain function in adulthood.
Peijun Ren +3 more
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Gain-of-function oncogenic mutations in TP53 enhance defined factor-mediated cellular reprogramming [PDF]
, 2011 Cancer is a disorder with various genetic and epigenetic alterations. Genetic alterations such as mutations, i.e., substitutions, amplifications, and deletions of nucleotide sequences, are largely irreversible, whereas epigenetic alterations can be ...
Kazuyoshi Yamamoto +8 more
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Somatic genetic alterations predict hematological progression in GATA2 deficiency
Haematologica, 2023 Germline GATA2 mutations predispose to myeloid malignancies resulting from the progressive acquisition of additional somatic mutations. Here we describe clinical and biological features of 78 GATA2-deficient patients.
Laetitia Largeaud +25 more
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A pathway-centric survey of somatic mutations in Chinese patients with colorectal carcinomas.
PLoS ONE, 2015 Previous genetic studies on colorectal carcinomas (CRC) have identified multiple somatic mutations in four candidate pathways (TGF-β, Wnt, P53 and RTK-RAS pathways) on populations of European ancestry.
Chao Ling +7 more
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