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Mutations and Modeling of the Chromatin Remodeler CHD8 Define an Emerging Autism Etiology.
Barnard RA, Pomaville MB, O'Roak BJ. Barnard RA, et al. Front Neurosci. 2015 Dec 17;9:477. doi: 10.3389/fnins.2015.00477. eCollection 2015. Front Neurosci. 2015. PMID: 26733790 Free PMC article. Review.
CHD8, a chromatin remodeling factor, may serve as a "master regulator" of a common ASD etiology. Individuals with a CHD8 mutation show an ASD subtype that includes similar physical characteristics, such as macrocephaly and prolonged GI problems including recu
CHD8, a chromatin remodeling factor, may serve as a "master regulator" of a common ASD etiology. Individuals with a CHD8 mu
Clinical phenotype of ASD-associated DYRK1A haploinsufficiency.
Earl RK, Turner TN, Mefford HC, Hudac CM, Gerdts J, Eichler EE, Bernier RA. Earl RK, et al. Mol Autism. 2017 Oct 5;8:54. doi: 10.1186/s13229-017-0173-5. eCollection 2017. Mol Autism. 2017. PMID: 29034068 Free PMC article.
UW DYRK1A cases were further characterized quantitatively and compared to a randomly subsampled set of idiopathic ASD cases matched on age and gender (n = 10) and to cases with an ASD-associated disruptive mutation to CHD8 (n = 12). ...Cases with DYRK1A mu
UW DYRK1A cases were further characterized quantitatively and compared to a randomly subsampled set of idiopathic ASD cases matched on age a …
Disruptive CHD8 mutations define a subtype of autism early in development.
Bernier R, Golzio C, Xiong B, Stessman HA, Coe BP, Penn O, Witherspoon K, Gerdts J, Baker C, Vulto-van Silfhout AT, Schuurs-Hoeijmakers JH, Fichera M, Bosco P, Buono S, Alberti A, Failla P, Peeters H, Steyaert J, Vissers LELM, Francescatto L, Mefford HC, Rosenfeld JA, Bakken T, O'Roak BJ, Pawlus M, Moon R, Shendure J, Amaral DG, Lein E, Rankin J, Romano C, de Vries BBA, Katsanis N, Eichler EE. Bernier R, et al. Cell. 2014 Jul 17;158(2):263-276. doi: 10.1016/j.cell.2014.06.017. Epub 2014 Jul 3. Cell. 2014. PMID: 24998929 Free PMC article.
In addition to a high likelihood of an ASD diagnosis among patients bearing CHD8 mutations, characteristics enriched in this group included macrocephaly, distinct faces, and gastrointestinal complaints. chd8 disruption in zebrafish recapitulates featur …
In addition to a high likelihood of an ASD diagnosis among patients bearing CHD8 mutations, characteristics enriched in this g …
Regulatory genes and pathways disrupted in autism spectrum disorders.
Ayhan F, Konopka G. Ayhan F, et al. Prog Neuropsychopharmacol Biol Psychiatry. 2019 Mar 8;89:57-64. doi: 10.1016/j.pnpbp.2018.08.017. Epub 2018 Aug 28. Prog Neuropsychopharmacol Biol Psychiatry. 2019. PMID: 30165121 Free PMC article. Review.
Defining the convergent pathways disrupted by this large number of ASD-associated genetic variants will help to understand disease pathogenesis and direct future therapeutic efforts for the groups of patients with distinct etiologies. ...For each category, we focus
Defining the convergent pathways disrupted by this large number of ASD-associated genetic variants will help to understand dis
A de novo variant of CHD8 in a patient with autism spectrum disorder.
Alotaibi M, Ramzan K. Alotaibi M, et al. Discoveries (Craiova). 2020 Mar 31;8(1):e107. doi: 10.15190/d.2020.4. Discoveries (Craiova). 2020. PMID: 32309624 Free PMC article.
Mutations in chromodomain helicase DNA-binding protein 8 (CHD8) gene, have been associated with autism, macrocephaly, speech delay, distinct facial features, sleep and gastrointestinal disturbances. ...Whole exome sequencing for parent-child trio revealed a de novo
Mutations in chromodomain helicase DNA-binding protein 8 (CHD8) gene, have been associated with autism, macrocephaly, speech d
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