Results 11 to 20 of about 13,071 (247)

Acne Syndromes and Mosaicism

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, Jim Wu, Christos C. Zouboulis   +2 more
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Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood

Scientific Reports, 2021
Postzygotic mosaicism (PZM) in NIPBL is a strong source of causality for Cornelia de Lange syndrome (CdLS) that can have major clinical implications. Here, we further delineate the role of somatic mosaicism in CdLS by describing a series of 11 unreported
Ana Latorre-Pellicer, Marta Gil-Salvador, Ilaria Parenti, Cristina Lucia-Campos, Laura Trujillano, Iñigo Marcos-Alcalde, María Arnedo, Ángela Ascaso, Ariadna Ayerza-Casas, Rebeca Antoñanzas-Pérez, Cristina Gervasini, Maria Piccione, Milena Mariani, Axel Weber, Deniz Kanber, Alma Kuechler, Martin Munteanu, Katharina Khuller, Gloria Bueno-Lozano, Beatriz Puisac, Paulino Gómez-Puertas, Angelo Selicorni, Frank J. Kaiser, Feliciano J. Ramos, Juan Pié   +24 more
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Dynamic nature of somatic chromosomal mosaicism, genetic-environmental interactions and therapeutic opportunities in disease and aging

Molecular Cytogenetics, 2020
Background Somatic chromosomal mosaicism is the presence of cell populations differing with respect to the chromosome complements (e.g. normal and abnormal) in an individual.
Svetlana G. Vorsanova, Yuri B. Yurov, Ivan Y. Iourov   +2 more
doaj   +1 more source

Aging and the rise of somatic cancer-associated mutations in normal tissues. [PDF]

PLoS Genetics, 2018
DNA mutations are inevitable. Despite proficient DNA repair mechanisms, somatic cells accumulate mutations during development and aging, generating cells with different genotypes within the same individual, a phenomenon known as somatic mosaicism.
Rosa Ana Risques, Scott R Kennedy
doaj   +1 more source

Phenotype reversion as “natural gene therapy” in Fanconi anemia by a gene conversion event

Frontiers in Genetics, 2023
Somatic mosaicism appears as a recurrent phenomenon among patients suffering from Fanconi anemia (FA), but its direct prognostic significance mostly remains an open question.
Ilaria Persico, Ilaria Fiscarelli, Ilaria Fiscarelli, Alessandra Pelle, Michela Faleschini, Barbara Pasini, Barbara Pasini, Anna Savoia, Roberta Bottega   +8 more
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Somatic mosaicism in genetic errors of immunity. [PDF]

J Allergy Clin Immunol
Genetic mosaicism in somatic cells can lead to the presence of pathogenic variants in a subset of immune cells causing genetic errors of immunity, often phenocopying germline inborn errors of immunity. Over the last 2 decades, significant progress has been made in the identification of these disorders in patients, including discovery of new diseases ...
Cooper MA.
europepmc   +3 more sources

Comprehensive identification of somatic nucleotide variants in human brain tissue

Genome Biology, 2021
Background Post-zygotic mutations incurred during DNA replication, DNA repair, and other cellular processes lead to somatic mosaicism. Somatic mosaicism is an established cause of various diseases, including cancers. However, detecting mosaic variants in
Yifan Wang, Taejeong Bae, Jeremy Thorpe, Maxwell A. Sherman, Attila G. Jones, Sean Cho, Kenneth Daily, Yanmei Dou, Javier Ganz, Alon Galor, Irene Lobon, Reenal Pattni, Chaggai Rosenbluh, Simone Tomasi, Livia Tomasini, Xiaoxu Yang, Bo Zhou, Schahram Akbarian, Laurel L. Ball, Sara Bizzotto, Sarah B. Emery, Ryan Doan, Liana Fasching, Yeongjun Jang, David Juan, Esther Lizano, Lovelace J. Luquette, John B. Moldovan, Rujuta Narurkar, Matthew T. Oetjens, Rachel E. Rodin, Shobana Sekar, Joo Heon Shin, Eduardo Soriano, Richard E. Straub, Weichen Zhou, Andrew Chess, Joseph G. Gleeson, Tomas Marquès-Bonet, Peter J. Park, Mette A. Peters, Jonathan Pevsner, Christopher A. Walsh, Daniel R. Weinberger, Brain Somatic Mosaicism Network, Flora M. Vaccarino, John V. Moran, Alexander E. Urban, Jeffrey M. Kidd, Ryan E. Mills, Alexej Abyzov   +50 more
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RAS pathway: The new frontier of brain mosaicism in epilepsy

Neurobiology of Disease, 2023
As cells divide during development, errors in DNA replication and repair lead to somatic mosaicism – a phenomenon in which different cell lineages harbor unique constellations of genetic variants.
Sahibjot Sran, Tracy A. Bedrosian
doaj   +1 more source

Revertant somatic mosaicism as a cause of cancer. [PDF]

Cancer Sci, 2021
AbstractRevertant (somatic) mosaicism is a spontaneous correction of a causative mutation in patients with congenital diseases. A relatively frequent event, revertant mosaicism may bring favorable outcomes that ameliorate disorders, and is therefore called “natural gene therapy.” However, it has been revealed recently that “overcorrection” of inherited
Inaba T, Nagamachi A.
europepmc   +4 more sources

Detection of Very Low-Level Somatic Mosaic COL4A5 Splicing Variant in Asymptomatic Female Using Droplet Digital PCR

Frontiers in Medicine, 2022
BackgroundAlport syndrome is a hereditary glomerulopathy featured by haematuria, proteinuria, and progressive renal failure. X-linked Alport syndrome (XLAS) due to COL4A5 disease-causing variants is the most common form.
Haiyue Deng, Yanqin Zhang, Jie Ding, Fang Wang   +3 more
doaj   +1 more source