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Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
van der Spek J, den Hoed J, Snijders Blok L, Dingemans AJM, Schijven D, Nellaker C, Venselaar H, Astuti GDN, Barakat TS, Bebin EM, Beck-Wödl S, Beunders G, Brown NJ, Brunet T, Brunner HG, Campeau PM, Čuturilo G, Gilissen C, Haack TB, Hüning I, Husain RA, Kamien B, Lim SC, Lovrecic L, Magg J, Maver A, Miranda V, Monteil DC, Ockeloen CW, Pais LS, Plaiasu V, Raiti L, Richmond C, Rieß A, Schwaibold EMC, Simon MEH, Spranger S, Tan TY, Thompson ML, de Vries BBA, Wilkins EJ, Willemsen MH, Francks C, Vissers LELM, Fisher SE, Kleefstra T. van der Spek J, et al. Genet Med. 2022 Jun;24(6):1283-1296. doi: 10.1016/j.gim.2022.02.014. Epub 2022 Mar 26. Genet Med. 2022. PMID: 35346573 Free article.
METHODS: We characterized 21 families with inherited heterozygous missense or protein-truncating variants in CHD3, a gene in which de novo variants cause Snijders Blok-Campeau syndrome. ...In addition, similarly reduced expression levels of CHD3 protein in ce …
METHODS: We characterized 21 families with inherited heterozygous missense or protein-truncating variants in CHD3, a gene in w …
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T; DDD study; Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM. Snijders Blok L, et al. Nat Commun. 2018 Nov 5;9(1):4619. doi: 10.1038/s41467-018-06014-6. Nat Commun. 2018. PMID: 30397230 Free PMC article.
We describe an index case with a de novo missense mutation in CHD3, identified during whole genome sequencing of a cohort of children with rare speech disorders. To gain a comprehensive view of features associated with disruption of this gene, we use a genotype-driv …
We describe an index case with a de novo missense mutation in CHD3, identified during whole genome sequencing of a cohort of children …
The cancer driver genes IDH1/2, JARID1C/ KDM5C, and UTX/ KDM6A: crosstalk between histone demethylation and hypoxic reprogramming in cancer metabolism.
Chang S, Yim S, Park H. Chang S, et al. Exp Mol Med. 2019 Jun 20;51(6):1-17. doi: 10.1038/s12276-019-0230-6. Exp Mol Med. 2019. PMID: 31221981 Free PMC article. Review.
Of the 299 driver genes, 12 genes are involved in histones, histone methylation, and demethylation (Table 1). Among these 12 genes, those encoding the histone demethylases JARID1C/KDM5C and UTX/KDM6A were identified as cancer driver genes. ...
Of the 299 driver genes, 12 genes are involved in histones, histone methylation, and demethylation (Table 1). Among these 12 …
Snijders Blok-Campeau syndrome caused by CHD3 gene mutation: a case report.
Fan XY. Fan XY. Zhongguo Dang Dai Er Ke Za Zhi. 2021 Sept 15;23(9):965-968. doi: 10.7499/j.issn.1008-8830.2106091. Zhongguo Dang Dai Er Ke Za Zhi. 2021. PMID: 34535214 Free PMC article. Chinese, English.
A de novo heterozygous mutation, c.3872G>A(p.G1291D), likely pathogenic, was detected in the CHD3 gene via the next generation sequencing. Snijders Blok-Campeau syndrome was confirmed. ...A de novo heterozygous mutation, c.3872G>A(p.G1291D), likely pathogenic, …
A de novo heterozygous mutation, c.3872G>A(p.G1291D), likely pathogenic, was detected in the CHD3 gene via the next generat …
Pleiotropy of autism-associated chromatin regulators.
Lasser M, Sun N, Xu Y, Wang S, Drake S, Law K, Gonzalez S, Wang B, Drury V, Castillo O, Zaltsman Y, Dea J, Bader E, McCluskey KE, State MW, Willsey AJ, Willsey HR. Lasser M, et al. Development. 2023 Jul 15;150(14):dev201515. doi: 10.1242/dev.201515. Epub 2023 Jul 18. Development. 2023. PMID: 37366052 Free PMC article.
Gene ontology analyses of high-confidence autism spectrum disorder (ASD) risk genes highlight chromatin regulation and synaptic function as major contributors to pathobiology. Our recent functional work in vivo has additionally implicated tubulin biology and cellula …
Gene ontology analyses of high-confidence autism spectrum disorder (ASD) risk genes highlight chromatin regulation and synapti …
The chromatin-remodeling enzyme CHD3 plays a role in embryonic viability but is dispensable for early vascular development.
Xie J, Gao S, Schafer C, Colijn S, Muthukumar V, Griffin CT. Xie J, et al. PLoS One. 2020 Jul 13;15(7):e0235799. doi: 10.1371/journal.pone.0235799. eCollection 2020. PLoS One. 2020. PMID: 32658897 Free PMC article.
Since NuRD complexes can incorporate the ATPase CHD3 as an alternative to CHD4, we questioned whether the CHD3 enzyme likewise modulates vascular development or integrity. ...Furthermore, double-deletion of Chd3 and Chd4 in embryonic endothelial cells (Chd …
Since NuRD complexes can incorporate the ATPase CHD3 as an alternative to CHD4, we questioned whether the CHD3 enzyme likewise …
The SUMO protease SENP1 and the chromatin remodeler CHD3 interact and jointly affect chromatin accessibility and gene expression.
Rodríguez-Castañeda F, Lemma RB, Cuervo I, Bengtsen M, Moen LM, Ledsaak M, Eskeland R, Gabrielsen OS. Rodríguez-Castañeda F, et al. J Biol Chem. 2018 Oct 5;293(40):15439-15454. doi: 10.1074/jbc.RA118.002844. Epub 2018 Aug 6. J Biol Chem. 2018. PMID: 30082317 Free PMC article.
In the present work, we focused on SENP1, specifically, on its role in activation of gene expression investigated through analysis of the SENP1 interactome, which revealed that SENP1 physically interacts with the chromatin remodeler chromodomain helicase DNA-binding protei …
In the present work, we focused on SENP1, specifically, on its role in activation of gene expression investigated through analysis of …
Mutations in the Rice OsCHR4 Gene, Encoding a CHD3 Family Chromatin Remodeler, Induce Narrow and Rolled Leaves with Increased Cuticular Wax.
Guo T, Wang D, Fang J, Zhao J, Yuan S, Xiao L, Li X. Guo T, et al. Int J Mol Sci. 2019 May 25;20(10):2567. doi: 10.3390/ijms20102567. Int J Mol Sci. 2019. PMID: 31130602 Free PMC article.
Expressions of seven wax biosynthesis genes (GL1-4, WSL4, OsCER7, LACS2, LACS7, ROC4 and BDG) and four auxin biosynthesis genes (YUC2, YUC3, YUC5 and YUC6) was up-regulated in the Oschr4-5 mutant. Chromatin immunoprecipitation assays revealed that the transcriptiona …
Expressions of seven wax biosynthesis genes (GL1-4, WSL4, OsCER7, LACS2, LACS7, ROC4 and BDG) and four auxin biosynthesis genes …
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review.
Pascual P, Tenorio-Castano J, Mignot C, Afenjar A, Arias P, Gallego-Zazo N, Parra A, Miranda L, Cazalla M, Silván C, Heron D, Keren B, Popa I, Palomares M, Rikeros E, Ramos FJ, Almoguera B, Ayuso C, Swafiri ST, Barbero AIS, Srinivasan VM, Gowda VK, Morleo M, Nigro V, D'Arrigo S, Ciaccio C, Martin Mesa C, Paumard B, Guillen G, Anton ATS, Jimenez MD, Seidel V, Suárez J, Cormier-Daire V, Consortium TS, Nevado J, Lapunzina P. Pascual P, et al. Genes (Basel). 2023 Aug 23;14(9):1664. doi: 10.3390/genes14091664. Genes (Basel). 2023. PMID: 37761804 Free PMC article. Review.
SNIBCPS is caused likely by pathogenic and pathogenic variants in CHD3 (Chromodomain Helicase DNA Binding Protein 3), which seems to be involved in chromatin remodeling by deacetylating histones. Here, we report 20 additional patients with clinical features compatible with …
SNIBCPS is caused likely by pathogenic and pathogenic variants in CHD3 (Chromodomain Helicase DNA Binding Protein 3), which seems to …
Combined in silico analysis identified a putative tooth root formation-related gene, Chd3, which regulates DNA synthesis in HERS01a cells.
Date Y, Kondo H, Yamashita A, Iseki S, Kasugai S, Ota MS. Date Y, et al. Odontology. 2020 Jul;108(3):386-395. doi: 10.1007/s10266-020-00489-w. Epub 2020 Feb 5. Odontology. 2020. PMID: 32026140
In the present study, we performed combined in silico analysis using the information obtained from various DNA microarrays and identified 19 putative tooth root formation-related genes. Furthermore, quantitative PCR was performed on the candidate genes, Chd3 …
In the present study, we performed combined in silico analysis using the information obtained from various DNA microarrays and identified 19 …
127 results