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2020 1
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Page 1
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 …
Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.
Ohno K, Ohkawara B, Shen XM, Selcen D, Engel AG. Ohno K, et al. Int J Mol Sci. 2023 Feb 13;24(4):3730. doi: 10.3390/ijms24043730. Int J Mol Sci. 2023. PMID: 36835142 Free PMC article. Review.
A total of 35 genes have been reported in CMS (AGRN, ALG14, ALG2, CHAT, CHD8, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COL13A1, COLQ, DOK7, DPAGT1, GFPT1, GMPPB, LAMA5, LAMB2, LRP4, MUSK, MYO9A, PLEC, PREPL, PURA, RAPSN, RPH3A, SCN4A, SLC18A3, SLC25A1, SLC5A7, SNAP25, SYT2, TO …
A total of 35 genes have been reported in CMS (AGRN, ALG14, ALG2, CHAT, CHD8, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COL13A1, COLQ, DOK …
Autism genes converge on asynchronous development of shared neuron classes.
Paulsen B, Velasco S, Kedaigle AJ, Pigoni M, Quadrato G, Deo AJ, Adiconis X, Uzquiano A, Sartore R, Yang SM, Simmons SK, Symvoulidis P, Kim K, Tsafou K, Podury A, Abbate C, Tucewicz A, Smith SN, Albanese A, Barrett L, Sanjana NE, Shi X, Chung K, Lage K, Boyden ES, Regev A, Levin JZ, Arlotta P. Paulsen B, et al. Nature. 2022 Feb;602(7896):268-273. doi: 10.1038/s41586-021-04358-6. Epub 2022 Feb 2. Nature. 2022. PMID: 35110736 Free PMC article.
Here we used organoid models of the human cerebral cortex to identify cell-type-specific developmental abnormalities that result from haploinsufficiency in three ASD risk genes-SUV420H1 (also known as KMT5B), ARID1B and CHD8-in multiple cell lines from different donors, us …
Here we used organoid models of the human cerebral cortex to identify cell-type-specific developmental abnormalities that result from haploi …
Genetic modifiers and ascertainment drive variable expressivity of complex disorders.
Jensen M, Smolen C, Tyryshkina A, Pizzo L, Sun J, Noss S, Banerjee D, Oetjens M, Shimelis H, Taylor CM, Pounraja VK, Song H, Rohan L, Huber E, El Khattabi L, van de Laar I, Tadros R, Bezzina CR, van Slegtenhorst M, Kammeraad J, Prontera P, Caberg JH, Fraser H, Banka S, Van Dijck A, Schwartz C, Voorhoeve E, Callier P, Mosca-Boidron AL, Marle N, Lefebvre M, Pope K, Snell P, Boys A, Lockhart PJ, Ashfaq M, McCready E, Nowacyzk M, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Bruccheri MG, Mandarà GML, Mari F, Privitera F, Longo I, Curró A, Renieri A, Keren B, Charles P, Cuinat S, Nizon M, Pichon O, Bénéteau C, Stoeva R, Martin-Coignard D, Blesson S, Le Caignec C, Mercier S, Vincent M, Martin CL, Mannik K, Reymond A, Faivre L, Sistermans E, Kooy RF, Amor DJ, Romano C, Andrieux J, Girirajan S. Jensen M, et al. Cell. 2025 Dec 11;188(25):7065-7082.e17. doi: 10.1016/j.cell.2025.09.012. Epub 2025 Oct 7. Cell. 2025. PMID: 41061703 Free article.
Additional analysis of 1,479 probands with other primary variants, such as the 16p11.2 deletion and CHD8 variants, and 1,528 probands without primary variants showed that phenotypic associations differed by primary variant context and were influenced by synergistic interac …
Additional analysis of 1,479 probands with other primary variants, such as the 16p11.2 deletion and CHD8 variants, and 1,528 probands …
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.
Mutations in the gene encoding chromodomain helicase DNA-binding protein 8 (CHD8) are strongly associated with autism spectrum disorder (ASD). ...Here we show that Chd8 knock-in (KI) mice that overexpress CHD8 as a mo …
Mutations in the gene encoding chromodomain helicase DNA-binding protein 8 (CHD8) are stron …
Epigenetic Causes of Overgrowth Syndromes.
Lui JC, Baron J. Lui JC, et al. J Clin Endocrinol Metab. 2024 Jan 18;109(2):312-320. doi: 10.1210/clinem/dgad420. J Clin Endocrinol Metab. 2024. PMID: 37450557 Free PMC article. Review.
Multiple monogenic overgrowth syndromes result from variants in epigenetic regulators: variants in histone methyltransferases NSD1 and EZH2 cause Sotos syndrome and Weaver syndrome, respectively, variants in DNA methyltransferase DNMT3A cause Tatton-Brown-Rahman syndrome, and var …
Multiple monogenic overgrowth syndromes result from variants in epigenetic regulators: variants in histone methyltransferases NSD1 and EZH2 …
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 …
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 …
Chromodomain-helicase-DNA-binding protein 8 (CHD8) has been identified as one of the genes …
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 …
CHD8 interacts with BCL11A to induce oncogenic transcription in triple negative breast cancer.
Waterhouse M, Lazarus K, Santolla MF, Pensa S, Williams E, Siu AJQ, Mohammed H, Mohorianu I, Maggiolini M, Carroll J, Itzhaki LS, Rahman T, Khaled WT. Waterhouse M, et al. EMBO J. 2025 Jun;44(12):3448-3467. doi: 10.1038/s44318-025-00447-8. Epub 2025 May 6. EMBO J. 2025. PMID: 40328966 Free PMC article.
This approach identified the chromatin remodeller CHD8 as a TNBC-specific interaction partner of BCL11A. We show that CHD8 also plays a key role in TNBC pathogenesis, with detailed multi-omics analysis revealing that BCL11A and CHD8 co-regulate several target …
This approach identified the chromatin remodeller CHD8 as a TNBC-specific interaction partner of BCL11A. We show that CHD8 als …
62 results