Genetic background determines synaptic phenotypes in Arid1b-mutant mice

Autor: Hyosang Kim, Eunjoon Kim

Publikováno v: Frontiers in Psychiatry, Vol 14 (2024)

ARID1B, a chromatin remodeler, is strongly implicated in autism spectrum disorders (ASD). Two previous studies on Arid1b-mutant mice with the same exon 5 deletion in different genetic backgrounds revealed distinct synaptic phenotypes underlying the b

Externí odkaz: https://doaj.org/article/00e7a9283f53467480f05e0bd70632b3

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Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

Autor: David J. Amor, Elizabeth Fitzpatrick, Paul J. Lockhart, Kate Pope, Richard J. Leventer, Susan M. White, Anneke T. Vulto-van Silfhout, Hayley S. Mountford, Pernille Mathiesen Tørring, Shane McKee, Donna M. Muzny, Joe C H Sim, Greta Gillies, Martin B. Delatycki, Shalini N. Jhangiani, Gabrielle R. Wilson

Publikováno v: Orphanet Journal of Rare Diseases, 9, 1, pp. 43
Orphanet Journal of Rare Diseases, 9, 43
Orphanet Journal of Rare Diseases
Sim, J C H, White, S M, Fitzpatrick, E, Wilson, G R, Gillies, G, Pope, K, Mountford, H S, Tørring, P M, McKee, S, Vulto-van Silfhout, A T, Jhangiani, S N, Muzny, D M, Leventer, R J, Delatycki, M B, Amor, D J & Lockhart, P J 2014, ' Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency ', Orphanet Journal of Rare Diseases, vol. 9, 43 . https://doi.org/10.1186/1750-1172-9-43

Background: Mutations in genes encoding components of the Brahma-associated factor (BAF) chromatin remodeling complex have recently been shown to contribute to multiple syndromes characterised by developmental delay and intellectual disability. ARID1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b49121f3de8b7b1197ea77433f48b65
https://hdl.handle.net/2066/137990

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