Somatic mosaicism in the diseased brain [PDF]
Molecular Cytogenetics, 2022 It is hard to believe that all the cells of a human brain share identical genomes. Indeed, single cell genetic studies have demonstrated intercellular genomic variability in the normal and diseased brain.
Ivan Y. Iourov +4 more
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The human brain through the lens of somatic mosaicism [PDF]
Frontiers in Neuroscience, 2023 Every cell in the human brain possesses a unique genome that is the product of the accumulation of somatic mutations starting from the first postzygotic cell division and continuing throughout life. Somatic mosaicism in the human brain has been the focus
Sara Bizzotto, Bizzotto Sara
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Somatic Mosaicism in Biology and Disease [PDF]
Annual Review of Physiology, 2022 Contrary to earlier beliefs, every cell in the individual is genetically different due to somatic mutations. Consequently, tissues become a mixture of cells with distinct genomes, a phenomenon termed somatic mosaicism. Recent advances in genome sequencing technology have unveiled possible causes of mutations and how they shape the unique mutational ...
Hayato Ogawa +2 more
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Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases [PDF]
Scientific Data, 2023 Somatic mosaicism is defined as an occurrence of two or more populations of cells having genomic sequences differing at given loci in an individual who is derived from a single zygote.
McKinzie A. Garrison +30 more
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Somatic Mosaicism and Autism Spectrum Disorder [PDF]
Genes, 2021 Autism spectrum disorder (ASD) is a genetically heterogenous neurodevelopmental disorder. In the early years of next-generation sequencing, de novo germline variants were shown to contribute to ASD risk. These germline mutations are present in all of the cells of an affected individual and can be detected in any tissue, including clinically accessible ...
Alissa D'Gama
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Human exome sequence data in support of somatic mosaicism in carotid atherosclerosis [PDF]
Data in Brief, 2021 Understanding the mechanisms underlying the connection between somatic mosaicism and cardiovascular disease is likely essential for the future of personalized medicine.
Alexei A. Sleptcov +5 more
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Frequent somatic mosaicism in T lymphocyte subsets in individuals with and without multiple sclerosis [PDF]
Frontiers in Immunology, 2022 BackgroundSomatic variants are variations in an individual’s genome acquired after the zygotic stadium and result from mitotic errors or not (fully) repaired DNA damage.ObjectivesTo investigate whether somatic mosaicism in T lymphocyte subsets is ...
Lies Van Horebeek +4 more
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Disease insights from brain somatic mosaicism [PDF]
Experimental and Molecular MedicineBrain somatic mosaicism (BSM) refers to genome variation within brain cells that results from accumulated postzygotic mutations. These mutations can be used to understand cell lineage, molecular dynamics and disease processes.
Changuk Chung +2 more
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Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation [PDF]
Frontiers in Genetics, 2021 Alexander disease is a leukodystrophy caused by heterozygous mutations of GFAP gene. Recurrence in siblings from healthy parents provides a confirmation to the transmission of variants through germinal mosaicism.
Alice Grossi +8 more
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Somatic mosaicism in inborn errors of immunity: Current knowledge, challenges, and future perspectives [PDF]
Seminars in Immunology, 2023 Megan Cooper
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