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| http://dx.doi.org/10.1016/j.ekir.2019.03.005 | DOI Listing |
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Detecting somatic variants in purified brain DNA obtained from surgically implanted depth electrodes in epilepsy.
Epilepsia
January 2025
Department of Clinical Neurosciences, University of Calgary, Calgary, Alberta, Canada.
Objective: Somatic variants causing epilepsy are challenging to detect, as they are only present in a subset of brain cells (e.g., mosaic), resulting in low variant allele frequencies.
View Article and Find Full Text PDFBacktracking Cell Phylogenies in the Human Brain with Somatic Mosaic Variants.
Methods Mol Biol
January 2025
Sorbonne Université, Institut du Cerveau (Paris Brain Institute) ICM, Inserm, CNRS, Hôpital de la Pitié Salpêtrière, Paris, France.
Somatic mosaic variants, and especially somatic single nucleotide variants (sSNVs), occur in progenitor cells in the developing human brain frequently enough to provide permanent, unique, and cumulative markers of cell divisions and clones. Here, we describe an experimental workflow to perform lineage studies in the human brain using somatic variants. The workflow consists in two major steps: (1) sSNV calling through whole-genome sequencing (WGS) of bulk (non-single-cell) DNA extracted from human fresh-frozen tissue biopsies, and (2) sSNV validation and cell phylogeny deciphering through single nuclei whole-genome amplification (WGA) followed by targeted sequencing of sSNV loci.
View Article and Find Full Text PDFSegmental vitiligo: autoimmune pathogenesis, neuronal mechanisms, and somatic mosaicism.
Int J Dermatol
December 2024
Department of Dermatology, First Affiliated Hospital of Dalian Medical University, Dalian, China.
Vitiligo is a common depigmentation disorder classified into nonsegmental vitiligo (NSV) and segmental vitiligo (SV). SV accounts for 5-27.9% of patients with vitiligo.
View Article and Find Full Text PDFSomatic mosaicism in genetic errors of immunity.
J Allergy Clin Immunol
December 2024
Department of Pediatrics, Division of Rheumatology/Immunology, Washington University in St. Louis, St. Louis, MO 63110. Electronic address:
Genetic mosaicism in somatic cells can lead to the presence of pathogenic variants in a subset of immune cells causing genetic errors of immunity (GEI), often phenocopying germline inborn errors of immunity (IEI). Over the last two decades significant progress has been made in the identification of these disorders in patients, including discovery of new diseases. Diagnosis of disease-causing somatic mosaicism provides a target for treatment and monitoring of patients and has implications for genetic counseling.
View Article and Find Full Text PDFComprehensive study of SNAREs involved in the post-Golgi transport in photoreceptors.
Front Cell Dev Biol
December 2024
Program of Life and Environmental Science, Graduate School of Integral Science for Life, Hiroshima University, Hiroshima, Japan.
Polarized transport is essential for the construction of multiple plasma membrane domains within cells. photoreceptors serve as excellent model systems for studying the mechanisms of polarized transport. We conducted a comprehensive soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) screening of the fly genome using RNAi knockdown and CRISPR/Cas9 somatic knockout combined with the CoinFLP system to identify SNAREs involved in post-Golgi trafficking.
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