Results 21 to 30 of about 8,531 (188)
Pervasive Genotypic Mosaicism in Founder Mice Derived from Genome Editing through Pronuclear Injection. [PDF]
PLoS ONE, 2015 Genome editing technologies, especially the Cas9/CRISPR system, have revolutionized biomedical research over the past several years. Generation of novel alleles has been simplified to unprecedented levels, allowing for rapid expansion of available ...
Daniel Oliver +3 more
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Orphanet Journal of Rare Diseases, 2023 Background Preimplantation genetic testing (PGT) for monogenic disorders (PGT-M) for germline mosaicism was previously highly dependent on polymerase chain reaction (PCR)-based directed mutation detection combined with linkage analysis of short tandem ...
Dongjia Chen +14 more
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Germline mosaicism in Coffin-Lowry syndrome [PDF]
European Journal of Human Genetics, 1998 We have identified a Coffin-Lowry syndrome pedigree where the disorder is associated with a novel splice site mutation in the RSK2 gene, leading to in-phase skipping of exon 5. Western blot analysis, using an antibody directed against the C-terminus of RSK2, failed to reveal RSK2 in this patient, suggesting strongly that the resulting internally ...
Jacquot, Sylvie +5 more
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Human exome sequence data in support of somatic mosaicism in carotid atherosclerosis
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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Epigenetic germline mosaicism in infertile men [PDF]
Human Molecular Genetics, 2014 Imprinted genes are expressed either from the paternal or the maternal allele, because the other allele has been silenced in the mother's or father's germline. Imprints are characterized by DNA methylation at cytosine phosphate guanine sites. Recently, abnormal sperm parameters and male infertility have been linked to aberrant methylation patterns of ...
Laurentino, Sandra +8 more
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Four-dimensional, dynamic mosaicism is a hallmark of normal human skin that permits mapping of the organization and patterning of human epidermis during terminal differentiation. [PDF]
PLoS ONE, 2018 Recent findings of mosaicism (DNA sequence variation) challenge the dogma that each person has a stable genetic constitution. Copy number variations, point mutations and chromosome abnormalities in normal or diseased tissues have been described.
Yun Wang +7 more
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Biomedicines, 2021 Abnormal mosaicism is the coexistence of cells with at least two genotypes, by the time of birth, in an individual derived from a single zygote, which leads to a disease phenotype. Somatic mosaicism can be further categorized into segmental mosaicism and
Sumer Baroud +2 more
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Low-level constitutional mosaicism of BRCA1 in two women with young onset ovarian cancer
Hereditary Cancer in Clinical Practice, 2022 Germline pathogenic variants in BRCA1 and BRCA2 cause hereditary breast and ovarian cancer. The vast majority of these variants are inherited from a parent. De novo constitutional pathogenic variants are rare. Even fewer cases of constitutional mosaicism
B. Speight +7 more
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Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation
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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Breast Cancer Research, 2019 The introduction of next-generation sequencing has resulted in testing multiple genes simultaneously to identify inherited pathogenic variants (PVs) in cancer susceptibility genes. PVs with low minor allele frequencies (MAFs) (
Felipe Batalini +6 more
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