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Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.
Hijazi H, Coelho FS, Gonzaga-Jauregui C, Bernardini L, Mar SS, Manning MA, Hanson-Kahn A, Naidu S, Srivastava S, Lee JA, Jones JR, Friez MJ, Alberico T, Torres B, Fang P, Cheung SW, Song X, Davis-Williams A, Jornlin C, Wight PA, Patyal P, Taube J, Poretti A, Inoue K, Zhang F, Pehlivan D, Carvalho CMB, Hobson GM, Lupski JR. Hijazi H, et al. Among authors: wight pa. Hum Mutat. 2020 Jan;41(1):150-168. doi: 10.1002/humu.23902. Epub 2019 Nov 14. Hum Mutat. 2020. PMID: 31448840 Free PMC article.
PLP1-lacZ transgenic mice reveal that splice variants containing "human-specific" exons are relatively minor in comparison to the archetypal transcript and that an upstream regulatory element bolsters expression during early postnatal brain development.
Patyal P, Fil D, Hamdan H, Wight PA. Patyal P, et al. Among authors: wight pa. Front Cell Neurosci. 2023 Jan 11;16:1087145. doi: 10.3389/fncel.2022.1087145. eCollection 2022. Front Cell Neurosci. 2023. PMID: 36713780 Free PMC article.
Targeted deletion of the antisilencer/enhancer (ASE) element from intron 1 of the myelin proteolipid protein gene (Plp1) in mouse reveals that the element is dispensable for Plp1 expression in brain during development and remyelination.
Pereira GB, Meng F, Kockara NT, Yang B, Wight PA. Pereira GB, et al. Among authors: wight pa. J Neurochem. 2013 Feb;124(4):454-65. doi: 10.1111/jnc.12092. Epub 2012 Dec 21. J Neurochem. 2013. PMID: 23157328 Free PMC article.
97 results