Results 31 to 40 of about 746,068 (249)
Effects of Somatic Mutations Are Associated with SNP in the Progression of Individual Acute Myeloid Leukemia Patient: The Two-Hit Theory Explains Inherited Predisposition to Pathogenesis [PDF]
Genomics & Informatics, 2013 This study evaluated the effects of somatic mutations and single nucleotide polymorphisms (SNPs) on disease progression and tried to verify the two-hit theory in cancer pathogenesis.
Soyoung Park, Youngil Koh, Sung-Soo Yoon
doaj +1 more source
Participants’ CD8+ cell somatic mutation allelic fraction distribution.
, 2021 Participants’ CD8+ cell somatic mutation allelic fraction distribution.
Lilja Jansson (9620924) +2 more
core +1 more source
Platelets, 2021 Germline mutations in ETV6 gene cause inherited thrombocytopenia with leukemia predisposition. Here, we report on functional validation of ETV6 W380R mutation segregating with thrombocytopenia in a family where two family members also suffered from acute
Katerina Stano Kozubik +11 more
doaj +1 more source
Effects of germline and somatic events in candidate BRCA-like genes on breast-tumor signatures
PLoS ONE, 2020 Mutations in BRCA1 and BRCA2 cause deficiencies in homologous recombination repair (HR), resulting in repair of DNA double-strand breaks by the alternative non-homologous end-joining pathway, which is more error prone.
Weston R. Bodily +8 more
doaj +2 more sources
PRAD samples somatic mutation data
, 2014 TCGA PRAD samples somatic mutation data in BED format.
Endre Sebestyén (403853)
core +1 more source
Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1 [PDF]
, 2000 The genetic basis of myotonic dystrophy type 1 (DM1) is the expansion of a CTG repeat in the 3' untranslated region of DM1PK . Once into the disease range, the repeat becomes highly unstable and is biased toward expansion in both somatic and germline ...
Martorell, L. +7 more
core +4 more sources
LUSC samples somatic mutation data
, 2014 TCGA LUSC samples somatic mutation data in BED format.
Endre Sebestyén (403853)
core +1 more source
FEBS Letters, EarlyView.Enteropathogenic E. coli (EPEC) infects the human intestinal epithelium, resulting in severe illness and diarrhoea. In this study, we compared the infection of cancer‐derived cell lines with human organoid‐derived models of the small intestine. We observed a delayed in attachment, inflammation and cell death on primary cells, indicating that host ...
Mastura Neyazi +5 more
wiley +1 more source
Oxidative stress is not a major contributor to somatic mitochondrial DNA mutations.
PLoS Genetics, 2014 The accumulation of somatic mitochondrial DNA (mtDNA) mutations is implicated in aging and common diseases of the elderly, including cancer and neurodegenerative disease. However, the mechanisms that influence the frequency of somatic mtDNA mutations are
Leslie S Itsara +7 more
doaj +1 more source