Role of CircCHD2 in the pathogenesis of gestational diabetes mellitus by regulating autophagy via miR-33b-3p/ULK1 axis. | Role of CircCHD2 in the pathogenesis of gestational diabetes mellitus by regulating autophagy via miR-33b-3p/ULK1 axis. Bao Y, Wu L, Liu Y, Fan C, Zhang J, Yang J. | 01/31/2024 |
CircCHD2/miR-200b-3p/HLF Axis Promotes Liver Cirrhosis. | CircCHD2/miR-200b-3p/HLF Axis Promotes Liver Cirrhosis. Hu P, Guo J, Zhao B, Zhang Z, Zhu J, Liu F. | 11/19/2022 |
Regulation of human cortical interneuron development by the chromatin remodeling protein CHD2. | Regulation of human cortical interneuron development by the chromatin remodeling protein CHD2. Lewis EMA, Chapman G, Kaushik K, Determan J, Antony I, Meganathan K, Narasimhan M, Gontarz P, Zhang B, Kroll KL., Free PMC Article | 10/8/2022 |
Novel Loss-of-Function Variants in CHD2 Cause Childhood-Onset Epileptic Encephalopathy in Chinese Patients. | Novel Loss-of-Function Variants in CHD2 Cause Childhood-Onset Epileptic Encephalopathy in Chinese Patients. Wang X, Cui D, Ding C, Chen C, Wang X, Fang F, Jin H, Ren X., Free PMC Article | 06/11/2022 |
CHD1 and SPOP synergistically protect prostate epithelial cells from DNA damage. | CHD1 and SPOP synergistically protect prostate epithelial cells from DNA damage. Zhu Y, Wen J, Huang G, Mittlesteadt J, Wen X, Lu X. | 05/15/2021 |
A regulatory role for CHD2 in myelopoiesis. | A regulatory role for CHD2 in myelopoiesis. Shahin Varnoosfaderani F, Palau A, Dong W, Persson J, Durand-Dubief M, Svensson JP, Lennartsson A., Free PMC Article | 05/15/2021 |
CHD2-Related CNS Pathologies. | CHD2-Related CNS Pathologies. Wilson MM, Henshall DC, Byrne SM, Brennan GP., Free PMC Article | 04/3/2021 |
Study finds that Q1392TfsX17 maybe the hot-spot mutation of CHD2 and that West syndrome could be a new phenotype of CHD2 mutation. | CHD2-related epilepsy: novel mutations and new phenotypes. Chen J, Zhang J, Liu A, Zhang L, Li H, Zeng Q, Yang Z, Yang X, Wu X, Zhang Y. | 07/4/2020 |
CHD2 encodes a member of the chromodomain helicase DNA-binding (CHD) family involved in chromatin remodeling. This observation adds schizophrenia to the phenotypic spectrum of chromodomain remodeling disorders, which may lead to innovative therapeutic approaches. | Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report. Poisson A, Chatron N, Labalme A, Fourneret P, Ville D, Mathieu ML, Sanlaville D, Demily C, Lesca G., Free PMC Article | 03/7/2020 |
DNA helicases CHD2 and CHD7 could reduce BAP1 promoter activity, likely through unwinding its G4 structures. | G-quadruplexes in the BAP1 promoter positively regulate its expression. Li Y, Zhang X, Gao Y, Shi J, Tang L, Sui G. | 06/1/2019 |
CHD2 mutation is associated with neurodevelopmental disorders. | The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter. Petersen AK, Streff H, Tokita M, Bostwick BL. | 05/25/2019 |
Germline mosaicism resulted in a CHD2 gene missense variant and the development of autism spectrum disorder in two siblings. | Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant. Lebrun N, Parent P, Gendras J, Billuart P, Poirier K, Bienvenu T. | 07/7/2018 |
study reports monozygotic twins with a global neurodevelopmental delay associated with an autism spectrum disorder, hypotonia, postnatal microcephaly, stereotypic movements and circadian rhythm alterations in association with late-onset epilepsy; identified a CHD2 mutation, previously described in association with a phenotypic spectrum overlapping our patients' phenotype | Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation. Pinto AM, Bianciardi L, Mencarelli MA, Imperatore V, Di Marco C, Furini S, Suppiej A, Salviati L, Tenconi R, Ariani F, Mari F, Renieri A. | 01/14/2017 |
Results indicate a PARP1-dependent mechanism that regulates non-homologous end-joining through localized chromatin expansion and deposition of the histone variant H3.3 by CHD2 at DNA breaks promoting DNA repair. | PARP1 Links CHD2-Mediated Chromatin Expansion and H3.3 Deposition to DNA Repair by Non-homologous End-Joining. Luijsterburg MS, de Krijger I, Wiegant WW, Shah RG, Smeenk G, de Groot AJL, Pines A, Vertegaal ACO, Jacobs JJL, Shah GM, van Attikum H., Free PMC Article | 07/30/2016 |
CHD2 mutations are responsible in rare cases for generalized epilepsy with myoclonic-atonic seizures. | CHD2 mutations are a rare cause of generalized epilepsy with myoclonic-atonic seizures. Trivisano M, Striano P, Sartorelli J, Giordano L, Traverso M, Accorsi P, Cappelletti S, Claps DJ, Vigevano F, Zara F, Specchio N. | 06/11/2016 |
CHD2 is a cancer driver and has a role as chromatin remodeler in chronic lymphocytic leukemia. | Mutations in CHD2 cause defective association with active chromatin in chronic lymphocytic leukemia. Rodríguez D, Bretones G, Quesada V, Villamor N, Arango JR, López-Guillermo A, Ramsay AJ, Baumann T, Quirós PM, Navarro A, Royo C, Martín-Subero JI, Campo E, López-Otín C. | 10/10/2015 |
CHD2 mutation is the first identified cause of the archetypal generalized photosensitive epilepsy syndrome | CHD2 variants are a risk factor for photosensitivity in epilepsy. Galizia EC, Myers CT, Leu C, de Kovel CG, Afrikanova T, Cordero-Maldonado ML, Martins TG, Jacmin M, Drury S, Krishna Chinthapalli V, Muhle H, Pendziwiat M, Sander T, Ruppert AK, Møller RS, Thiele H, Krause R, Schubert J, Lehesjoki AE, Nürnberg P, Lerche H, EuroEPINOMICS CoGIE Consortium, Palotie A, Coppola A, Striano S, Gaudio LD, Boustred C, Schneider AL, Lench N, Jocic-Jakubi B, Covanis A, Capovilla G, Veggiotti P, Piccioli M, Parisi P, Cantonetti L, Sadleir LG, Mullen SA, Berkovic SF, Stephani U, Helbig I, Crawford AD, Esguerra CV, Kasteleijn-Nolst Trenité DG, Koeleman BP, Mefford HC, Scheffer IE, Sisodiya SM., Free PMC Article | 07/25/2015 |
CHD1 and CHD2 act as positive regulators of HIV-1 gene expression. | CHD1 and CHD2 are positive regulators of HIV-1 gene expression. Rodgers MJ, Banks DJ, Bradley KA, Young JA., Free PMC Article | 07/4/2015 |
The phenotypic spectrum of CHD2 encephalopathy has distinctive features of myoclonic epilepsy with marked photosensitivity. | CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures. Thomas RH, Zhang LM, Carvill GL, Archer JS, Heavin SB, Mandelstam SA, Craiu D, Berkovic SF, Gill DS, Mefford HC, Scheffer IE, EuroEPINOMICS RES Consortium., Free PMC Article | 06/20/2015 |
Human CHD2 is a chromatin assembly ATPase regulated by its chromatin- and DNA-binding domains. | Human CHD2 is a chromatin assembly ATPase regulated by its chromo- and DNA-binding domains. Liu JC, Ferreira CG, Yusufzai T., Free PMC Article | 04/11/2015 |
Our findings suggest that CHD2 mutations are important in the etiological spectrum of Lennox-Gastaut syndrome. | CHD2 mutations in Lennox-Gastaut syndrome. Lund C, Brodtkorb E, Øye AM, Røsby O, Selmer KK. | 12/6/2014 |
Genetic variants of BCL2, GNAO1, and CHD2 are associated with non-obstructive azoospermia risk. | Comprehensive pathway-based analysis identifies associations of BCL2, GNAO1 and CHD2 with non-obstructive azoospermia risk. Qin Y, Ji J, Du G, Wu W, Dai J, Hu Z, Sha J, Hang B, Lu C, Xia Y, Wang X. | 11/22/2014 |
De novo loss-of-function mutations in CHD2 are a cause of epileptic encephalopathy with generalized seizures. | De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. Suls A, Jaehn JA, Kecskés A, Weber Y, Weckhuysen S, Craiu DC, Siekierska A, Djémié T, Afrikanova T, Gormley P, von Spiczak S, Kluger G, Iliescu CM, Talvik T, Talvik I, Meral C, Caglayan HS, Giraldez BG, Serratosa J, Lemke JR, Hoffman-Zacharska D, Szczepanik E, Barisic N, Komarek V, Hjalgrim H, Møller RS, Linnankivi T, Dimova P, Striano P, Zara F, Marini C, Guerrini R, Depienne C, Baulac S, Kuhlenbäumer G, Crawford AD, Lehesjoki AE, de Witte PA, Palotie A, Lerche H, Esguerra CV, De Jonghe P, Helbig I, EuroEPINOMICS RES Consortium., Free PMC Article | 01/4/2014 |
De novo CHD2 and SYNGAP1 mutations are new causes of epileptic encephalopathies, accounting for 1.2% and 1% of cases, respectively. | Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Carvill GL, Heavin SB, Yendle SC, McMahon JM, O'Roak BJ, Cook J, Khan A, Dorschner MO, Weaver M, Calvert S, Malone S, Wallace G, Stanley T, Bye AM, Bleasel A, Howell KB, Kivity S, Mackay MT, Rodriguez-Casero V, Webster R, Korczyn A, Afawi Z, Zelnick N, Lerman-Sagie T, Lev D, Møller RS, Gill D, Andrade DM, Freeman JL, Sadleir LG, Shendure J, Berkovic SF, Scheffer IE, Mefford HC., Free PMC Article | 09/14/2013 |
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |