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347 results

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Page 1
CHD8-Related Neurodevelopmental Disorder with Overgrowth.
Mitchel MW, Myers SM, Heidlebaugh AR, Taylor CM, Rea H, Neuhaus E, Kurtz-Nelson EC, Earl R, Bernier R, Ledbetter DH, Martin CL, Eichler EE. Mitchel MW, et al. 2022 Oct 27. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2022 Oct 27. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 36302072 Free Books & Documents. Review.
Less common features are hypotonia (about 30% of affected individuals), seizures (10%-15%), dystonia (rare), and Chiari I malformation (rare). DIAGNOSIS/TESTING: The diagnosis of CHD8-NDD is established in a proband by identification of a heterozygous pathogenic (or likely …
Less common features are hypotonia (about 30% of affected individuals), seizures (10%-15%), dystonia (rare), and Chiari I malformation (rare …
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 features of the huma …
In addition to a high likelihood of an ASD diagnosis among patients bearing CHD8 mutations, characteristics enriched in this group in …
Duplication of the autism-related gene Chd8 leads to behavioral hyperactivity and neurodevelopmental defects in mice.
Kawamura A, Fujii K, Tamada K, Abe Y, Nitahara K, Iwasaki T, Yagishita S, Tanaka KF, Takumi T, Takao K, Nishiyama M. Kawamura A, et al. Nat Commun. 2025 May 26;16(1):4641. doi: 10.1038/s41467-025-59853-5. Nat Commun. 2025. PMID: 40419468 Free PMC article.
Here we show that Chd8 knock-in (KI) mice that overexpress CHD8 as a model of human CHD8 duplication manifest growth retardation, microcephaly, impaired neuronal differentiation, and behavioral abnormalities including hyperactivity and reduced anxiety-like be …
Here we show that Chd8 knock-in (KI) mice that overexpress CHD8 as a model of human CHD8 duplication manifest growth re …
Neurodevelopmental functions of CHD8: new insights and questions.
Basson MA. Basson MA. Biochem Soc Trans. 2024 Feb 28;52(1):15-27. doi: 10.1042/BST20220926. Biochem Soc Trans. 2024. PMID: 38288845 Free PMC article. Review.
Heterozygous, de novo, loss-of-function variants of the CHD8 gene are associated with a high penetrance of autism and other neurodevelopmental phenotypes. ...Over the last decade, a complex picture of pleiotropic CHD8 functions and mechanisms of action has emerged. …
Heterozygous, de novo, loss-of-function variants of the CHD8 gene are associated with a high penetrance of autism and other neurodeve …
The Mechanisms of CHD8 in Neurodevelopment and Autism Spectrum Disorders.
Weissberg O, Elliott E. Weissberg O, et al. Genes (Basel). 2021 Jul 26;12(8):1133. doi: 10.3390/genes12081133. Genes (Basel). 2021. PMID: 34440307 Free PMC article. Review.
Chromodomain-helicase-DNA-binding protein 8 (CHD8) has been identified as one of the genes with the strongest association with autism. ...Considering the central role of CHD8 in the genetics of autism, a deeper understanding of the physiological functions of CHD8 …
Chromodomain-helicase-DNA-binding protein 8 (CHD8) has been identified as one of the genes with the strongest association with autism …
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Zhou X, Feliciano P, Shu C, Wang T, Astrovskaya I, Hall JB, Obiajulu JU, Wright JR, Murali SC, Xu SX, Brueggeman L, Thomas TR, Marchenko O, Fleisch C, Barns SD, Snyder LG, Han B, Chang TS, Turner TN, Harvey WT, Nishida A, O'Roak BJ, Geschwind DH; SPARK Consortium; Michaelson JJ, Volfovsky N, Eichler EE, Shen Y, Chung WK. Zhou X, et al. Nat Genet. 2022 Sep;54(9):1305-1319. doi: 10.1038/s41588-022-01148-2. Epub 2022 Aug 18. Nat Genet. 2022. PMID: 35982159 Free PMC article.
Autistic individuals with LoF variants in the four moderate-risk genes (NAV3, ITSN1, SCAF1 and HNRNPUL2; n = 95) have less cognitive impairment than 129 autistic individuals with LoF variants in highly penetrant genes (CHD8, SCN2A, ADNP, FOXP1 and SHANK3) (59% vs 88%, P = …
Autistic individuals with LoF variants in the four moderate-risk genes (NAV3, ITSN1, SCAF1 and HNRNPUL2; n = 95) have less cognitive impairm …
CHD8 dysregulation in neurodevelopment: Emerging insights into autism pathophysiology.
Chatterjee D, Maparu K. Chatterjee D, et al. Int J Biol Macromol. 2026 Jan;340(Pt 1):149985. doi: 10.1016/j.ijbiomac.2025.149985. Epub 2026 Jan 2. Int J Biol Macromol. 2026. PMID: 41485656 Review.
CHD8 encodes a chromatin remodeler protein that regulates gene expression by altering chromatin accessibility. ...These results align with human genetic studies that link CHD8 mutations to macrocephaly, intellectual disability, and social deficits in ASD patients. . …
CHD8 encodes a chromatin remodeler protein that regulates gene expression by altering chromatin accessibility. ...These results align …
Single-cell delineation of the microbiota-gut-brain axis: Probiotic intervention in Chd8 haploinsufficient mice.
Ji P, Wang N, Yu Y, Zhu J, Zuo Z, Zhang B, Zhao F. Ji P, et al. Cell Genom. 2025 Feb 12;5(2):100768. doi: 10.1016/j.xgen.2025.100768. Epub 2025 Feb 5. Cell Genom. 2025. PMID: 39914389 Free PMC article.
Selective CHD8 knockdown in intestinal epithelial cells generated Chd8(deltaIEC) mice, which exhibited normal sociability but impaired social novelty recognition. Probiotic intervention with Lactobacillus murinus selectively rescued social deficits in Chd8(de …
Selective CHD8 knockdown in intestinal epithelial cells generated Chd8(deltaIEC) mice, which exhibited normal sociability but …
Chromatin Remodeler CHD8 in Autism and Brain Development.
Hoffmann A, Spengler D. Hoffmann A, et al. J Clin Med. 2021 Jan 19;10(2):366. doi: 10.3390/jcm10020366. J Clin Med. 2021. PMID: 33477995 Free PMC article. Review.
The role of CHD8 is well-characterized at the structural, biochemical, and transcriptional level. By contrast, much less is understood regarding how mutations in CHD8 underpin altered brain function and mental disease. Studies on various model organisms have been pr …
The role of CHD8 is well-characterized at the structural, biochemical, and transcriptional level. By contrast, much less is understoo …
Autism-associated CHD8 controls reactive gliosis and neuroinflammation via remodeling chromatin in astrocytes.
Megagiannis P, Mei Y, Yan RE, Yuan L, Wilde JJ, Eckersberg H, Suresh R, Tan X, Chen H, Farmer WT, Cha K, Le PU, Catoire H, Rochefort D, Kwan T, Yee BA, Dion P, Krishnaswamy A, Cloutier JF, Stifani S, Petrecca K, Yeo GW, Murai KK, Feng G, Rouleau GA, Ideker T, Sanjana NE, Zhou Y. Megagiannis P, et al. Cell Rep. 2024 Aug 27;43(8):114637. doi: 10.1016/j.celrep.2024.114637. Epub 2024 Aug 17. Cell Rep. 2024. PMID: 39154337 Free PMC article.
Conditional Chd8 deletion in astrocytes, but not microglia, suppresses reactive gliosis by impeding astrocyte proliferation and morphological elaboration. Astrocyte Chd8 ablation alleviates lipopolysaccharide-induced neuroinflammation and septic-associated hypotherm …
Conditional Chd8 deletion in astrocytes, but not microglia, suppresses reactive gliosis by impeding astrocyte proliferation and morph …
347 results