De novo mutations, genetic mosaicism and human disease
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DOI: 10.3389/fgene.2022.983668
Abstract: Mosaicism—the existence of genetically distinct populations of cells in a particular organism—is an important cause of genetic disease. Mosaicism can appear as de novo DNA mutations, epigenetic alterations of DNA, and chromosomal abnormalities. Neurodevelopmental or… read more here.
Keywords: disease; genetic mosaicism; novo mutations; mutation ... See more keywords
Mitochondrial Mutations and Genetic Factors Determining NAFLD Risk
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DOI: 10.3390/ijms22094459
Abstract: NAFLD (non-alcoholic fatty liver disease) is a widespread liver disease that is often linked with other life-threatening ailments (metabolic syndrome, insulin resistance, diabetes, cardiovascular disease, atherosclerosis, obesity, and others) and canprogress to more severe forms,… read more here.
Keywords: mutations genetic; genetic factors; factors determining; nafld risk ... See more keywords