Somatic genetic rescue in Mendelian haematopoietic diseases
Sign Up to like & getrecommendations! Published in 2019 at "Nature Reviews Genetics"
DOI: 10.1038/s41576-019-0139-x
Abstract: Somatic mutations occur spontaneously in normal individuals and accumulate throughout life. These genetic modifications contribute to progressive ageing phenotypes and are directly involved in cancer development. However, a growing number of studies of Mendelian haematopoietic… read more here.
Keywords: mendelian haematopoietic; somatic genetic; genetic rescue; rescue mendelian ... See more keywords
Somatic genetic mosaicism in the apolipoprotein E-null mouse aorta.
Sign Up to like & getrecommendations! Published in 2021 at "Thrombosis and haemostasis"
DOI: 10.1055/a-1414-4840
Abstract: In addition to genetic and epigenetic inheritance, somatic variation may contribute to cardiovascular disease (CVD) risk. CVD-associated somatic mutations have been reported in human clonal haematopoiesis, but evidence in the atheroma is lacking. To probe… read more here.
Keywords: somatic genetic; aorta liver; mosaicism; apoe null ... See more keywords
Somatic genetic alterations predict hematological progression in GATA2 deficiency
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DOI: 10.3324/haematol.2022.282250
Abstract: 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. Hematopoietic stem and progenitor cell phenotypic characterization revealed… read more here.
Keywords: alterations predict; predict hematological; bone marrow; somatic genetic ... See more keywords
Somatic, Genetic and Epigenetic Changes in Nephrogenic Rests and Their Role in the Transformation to Wilms Tumors, a Systematic Review
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DOI: 10.3390/cancers15051363
Abstract: Simple Summary We reviewed all studies investigating molecular changes in nephrogenic rests (NR), the presumed precursor lesions of Wilms tumors (WT) being the most frequent malignant childhood renal tumors, between 1990 and 2022. Only 23… read more here.
Keywords: review; changes nephrogenic; somatic genetic; nephrogenic rests ... See more keywords