Zobrazeno 1 - 10
of 2 040
pro vyhledávání: '"Somatic Mosaicism"'
Autor:
Christina Zarouchlioti, Stephanie Efthymiou, Stefano Facchini, Natalia Dominik, Nihar Bhattacharyya, Siyin Liu, Marcos Abreu Costa, Anita Szabo, Amanda N. Sadan, Albert S. Jun, Enrico Bugiardini, Henry Houlden, Andrea Cortese, Pavlina Skalicka, Lubica Dudakova, Kirithika Muthusamy, Michael E. Cheetham, Alison J. Hardcastle, Petra Liskova, Stephen J. Tuft, Alice E. Davidson
Publikováno v:
EBioMedicine, Vol 108, Iss , Pp 105328- (2024)
Summary: Background: Fuchs endothelial corneal dystrophy (FECD) is the most common repeat-mediated disease in humans. It exclusively affects corneal endothelial cells (CECs), with ≤81% of cases associated with an intronic TCF4 triplet repeat (CTG18
Externí odkaz:
https://doaj.org/article/886fb84cc1b04e459db16fc8c11e4f8d
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Cellular senescence is characterized by replication arrest in response to stress stimuli. Senescent cells accumulate in aging tissues and can trigger organ-specific and possibly systemic dysfunction. Although senescent cell populations are heterogene
Externí odkaz:
https://doaj.org/article/32e9853e4a6d43cea317f12c7a7cb057
Autor:
Wei Shern Lee, Emma Macdonald‐Laurs, Sarah E M Stephenson, Colleen D'Arcy, Duncan MacGregor, Richard J Leventer, Wirginia Maixner, A Simon Harvey, Paul J Lockhart
Publikováno v:
Epilepsia Open, Vol 8, Iss 1, Pp 205-210 (2023)
Abstract Pathogenic somatic MTOR variants in the cerebral cortex are a frequent cause of focal cortical dysplasia (FCD). We describe a child with drug and surgery‐resistant focal epilepsy due to FCD type II who developed progressive enlargement and
Externí odkaz:
https://doaj.org/article/43a28f90c6074072b7d54c233d653d34
Autor:
Frontiers Production Office
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Externí odkaz:
https://doaj.org/article/11a4b411408f46f3bd0fc7c5a763eb65
Autor:
Zhou Shu, Yue Zhang, Tongxin Han, Yan Li, Yurong Piao, Fei Sun, Jin Ma, Wenxiu Mo, Jiapeng Sun, Koon-Wing Chan, Wanling Yang, Yu-Lung Lau, Huawei Mao
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
Cryopyrin-associated periodic syndrome (CAPS) comprises a group of disorders characterized by recurrent bouts of systemic inflammation related to overactivation of inflammasome. So far, neither large cases of the correlation between genotype and phen
Externí odkaz:
https://doaj.org/article/e15c585946b44e8b8ff9c2b2ae98c543
Autor:
Ilaria Persico, Giorgia Fontana, Michela Faleschini, Melania Eva Zanchetta, Daniele Ammeti, Enrico Cappelli, Fabio Corsolini, Clara Mosa, Angela Guarina, Massimo Bogliolo, Jordi Surrallés, Carlo Dufour, Piero Farruggia, Anna Savoia, Roberta Bottega
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: Fanconi anemia (FA) is a genome instability condition that drives somatic mosaicism in up to 25% of all patients, a phenomenon now acknowledged as a good prognostic factor. Herein, we describe the case of P1, a FA proband carrying a spl
Externí odkaz:
https://doaj.org/article/c362a4450ed34036b2c2c9e8d32928b8
Publikováno v:
Molecular Cytogenetics, Vol 15, Iss 1, Pp 1-11 (2022)
Abstract 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. Moreover, there is a growing amount
Externí odkaz:
https://doaj.org/article/4f0fba0c4d4a45bc929c2d56f729aa80
Autor:
Alissa M. D'Gama, Annapurna Poduri
Publikováno v:
Neurobiology of Disease, Vol 181, Iss , Pp 106104- (2023)
Over the past decade, there has been tremendous progress in understanding brain somatic mosaicism in epilepsy in the research setting. Access to resected brain tissue samples from patients with medically refractory epilepsy undergoing epilepsy surger
Externí odkaz:
https://doaj.org/article/a40e824e60494380ab57f8865d43287a
Autor:
Sara Bizzotto
Publikováno v:
Frontiers in Neuroscience, Vol 17 (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 f
Externí odkaz:
https://doaj.org/article/c15fe62bf405495d9e5fff53201b03ab
Autor:
Sahibjot Sran, Tracy A. Bedrosian
Publikováno v:
Neurobiology of Disease, Vol 180, Iss , Pp 106074- (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. Over the past decade, somatic variants that disrupt
Externí odkaz:
https://doaj.org/article/f8333086efe348fc851327be7de9093b