Results 21 to 30 of about 13,071 (247)

Somatic Mosaicism and Disease [PDF]

Current Biology, 2014
The large number of cell divisions required to make a human body inevitably leads to the accumulation of somatic mutations. Such mutations cause individuals to be somatic mosaics. Recent advances in genomic technology now allow measurement of somatic diversity.
openaire   +2 more sources

True radial artery aneurysm in a patient with somatic mosaicism for a mutation in platelet-derived growth factor receptor β gene

Journal of Vascular Surgery Cases and Innovative Techniques, 2021
We have presented the case of a right radial artery aneurysm (RAA) in a 27-year-old man with cerebral and coronary artery aneurysms and features of Parkes-Weber syndrome (port-wine stains and right upper extremity arteriovenous malformation and ...
Sherene Shalhub, MD, MPH, Lisa Hysa, BS, Peter H. Byers, MD, Mark H. Meissner, MD, Manuel Ferreira, Jr., MD, PhD   +4 more
doaj   +1 more source

Somatic mosaicism and interneuron involvement in mTORopathies. [PDF]

Trends Neurosci
Somatic mutations in genes regulating mechanistic target of rapamycin (mTOR) pathway signaling can cause epilepsy, autism, and cognitive dysfunction. Research has predominantly focused on mTOR regulation of excitatory neurons in these conditions; however, dysregulated mTOR signaling among interneurons may also be critical.
Jerow LG, Krueger DA, Gross C, Danzer SC.   +3 more
europepmc   +3 more sources

A Mechanism for Somatic Brain Mosaicism [PDF]

Cell, 2016
Double-strand break repair is required for neural development, and brain cells contain somatic genomic variations. Now, Wei et al. demonstrate that neural stem and progenitor cells undergo very frequent DNA breaks in a very restricted set of genes involved in neural cell adhesion and synapse function.
Weissman, Irving L., Gage, Fred H.
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Somatic Genomic Mosaicism in Multiple Myeloma [PDF]

Frontiers in Genetics, 2020
Christine J. Ye, Jason Chen, Guo Liu, Henry H. Heng, Henry H. Heng   +4 more
doaj   +3 more sources

Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family

Frontiers in Genetics, 2021
Familial Rubinstein-Taybi syndrome (RSTS) with recurrent RSTS siblings and apparently unaffected parents is rare; such cases might result from parental somatic and/or germline mosaicism.
Shaobin Lin, Zhiming He, Linhuan Huang, Jialiu Liu, Ting Lei, Jianzhu Wu, Peizhi Huang, Yi Zhou, Yanmin Luo   +8 more
doaj   +1 more source

Modeling Brain Somatic Mosaicism With Cerebral Organoids, Including a Note on Mutant Microglia

Frontiers in Molecular Neuroscience, 2019
The brain is a genomic mosaic. Cell-to-cell genomic differences, which are the result of somatic mutations during development and aging, contribute to cellular diversity in the nervous system. This genomic diversity has important implications for nervous
Bert M. Verheijen, Bert M. Verheijen
doaj   +1 more source

THE RELATION OF GERM LINE MOSAICISM TO SOMATIC MOSAICISM IN DROSOPHILA [PDF]

Genetics, 1967
Uploaded by Plazi for TaxoDros. We do not have abstracts.
W R, Lee, C J, Kirby, C W, Debney
openaire   +2 more sources

Li-Fraumeni syndrome: not a straightforward diagnosis anymore—the interpretation of pathogenic variants of low allele frequency and the differences between germline PVs, mosaicism, and clonal hematopoiesis

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, Ellie G. Peacock, Lindsey Stobie, Alison Robertson, Judy Garber, Jeffrey N. Weitzel, Nadine M. Tung   +6 more
doaj   +1 more source

Somatic recombination underlies frequent revertant mosaicism in loricrin keratoderma

Life Science Alliance, 2019
We demonstrate that revertant mosaicism frequently occurs in loricrin keratoderma and that somatic recombination is the major mechanism underlying this therapeutically important phenomenon.
Shotaro Suzuki, Toshifumi Nomura, Toshinari Miyauchi, Masae Takeda, Yasuyuki Fujita, Wataru Nishie, Masashi Akiyama, Akemi Ishida-Yamamoto, Hiroshi Shimizu   +8 more
doaj   +1 more source