| Tissue-specific DNase I footprint analysis confirms the association of GATAD2B Q470* variant with intellectual disability. | Tissue-specific DNase I footprint analysis confirms the association of GATAD2B Q470* variant with intellectual disability.
Nikam V, Shaik Mohammad N. | 12/25/2021 |
| The enhancer activity of long interspersed nuclear element derived microRNA 625 induced by NF-kappaB. | The enhancer activity of long interspersed nuclear element derived microRNA 625 induced by NF-κB.
Lee HE, Park SJ, Huh JW, Imai H, Kim HS., Free PMC Article | 11/13/2021 |
| GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder. | GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Shieh C, Jones N, Vanle B, Au M, Huang AY, Silva APG, Lee H, Douine ED, Otero MG, Choi A, Grand K, Taff IP, Delgado MR, Hajianpour MJ, Seeley A, Rohena L, Vernon H, Gripp KW, Vergano SA, Mahida S, Naidu S, Sousa AB, Wain KE, Challman TD, Beek G, Basel D, Ranells J, Smith R, Yusupov R, Freckmann ML, Ohden L, Davis-Keppen L, Chitayat D, Dowling JJ, Finkel R, Dauber A, Spillmann R, Pena LDM, Undiagnosed Diseases Network, Metcalfe K, Splitt M, Lachlan K, McKee SA, Hurst J, Fitzpatrick DR, Morton JEV, Cox H, Venkateswaran S, Young JI, Marsh ED, Nelson SF, Martinez JA, Graham JM Jr, Kini U, Mackay JP, Pierson TM., Free PMC Article | 05/8/2021 |
| GATAD2B-related intellectual disability is a rare condition with subtle yet recognizable clinical features. In this article, we highlight a consistent clinical profile of subjects with GATAD2B-related intellectual disability. | GATAD2B-related intellectual disability due to parental mosaicism and review of literature.
Kaur P, Mishra S, Rajesh SM, Girisha KM, Shukla A. | 02/8/2020 |
| Our report further supports the importance of GATAD2B in neurodevelopment and contributes to delineation of the phenotype of the recently identified GAND. Mosaicism for the pathogenic variant in unaffected mothers of cases prompts detailed genetic testing with the use of NGS technology and genetic counseling for the parents of children with GAND. | Intellectual disability due to monoallelic variant in GATAD2B and mosaicism in unaffected parent.
Rabin R, Millan F, Cabrera-Luque J, Pappas J. | 11/2/2019 |
| GATAD2B interacts with C-MYC to enhance KRAS driven tumor growth. | In vivo screening identifies GATAD2B as a metastasis driver in KRAS-driven lung cancer.
Grzeskowiak CL, Kundu ST, Mo X, Ivanov AA, Zagorodna O, Lu H, Chapple RH, Tsang YH, Moreno D, Mosqueda M, Eterovic K, Fradette JJ, Ahmad S, Chen F, Chong Z, Chen K, Creighton CJ, Fu H, Mills GB, Gibbons DL, Scott KL., Free PMC Article | 12/22/2018 |
| This data suggests that 1q21.3 microdeletion is a recurrent microdeletion syndrome with distinguishable phenotypes, and loss of function of GATAD2B is the major contributor of the characteristic facies and ID. | 1q21.3 deletion involving GATAD2B: An emerging recurrent microdeletion syndrome.
Tim-Aroon T, Jinawath N, Thammachote W, Sinpitak P, Limrungsikul A, Khongkhatithum C, Wattanasirichaigoon D. | 10/21/2017 |
| findings suggest that GATAD2B serves as an important mediator of progesterone-progesterone receptor suppression of proinflammatory and contractile genes during pregnancy; decreased GATAD2B expression near term may contribute to the decline in progesterone receptor function, leading to labor | The transcriptional repressor GATAD2B mediates progesterone receptor suppression of myometrial contractile gene expression.
Chen CC, Montalbano AP, Hussain I, Lee WR, Mendelson CR., Free PMC Article | 09/30/2017 |
| This is the first report of GATAD2B in Chinese ID patients. Our findings will broaden the spectrum of GATAD2B mutations and facilitate genetic diagnosis and counseling. | Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases.
Luo X, Zou Y, Tan B, Zhang Y, Guo J, Zeng L, Zhang R, Tan H, Wei X, Hu Y, Zheng Y, Liang D, Wu L. | 06/24/2017 |
| p66beta might be important for the regulation of LOX in the nucleus. | Nuclear translocation of lysyl oxidase is promoted by interaction with transcription repressor p66β.
Okkelman IA, Sukaeva AZ, Kirukhina EV, Korneenko TV, Pestov NB. | 06/27/2015 |
| Detailed clinical description showed that all four individuals with a GATAD2B aberration had a distinctive phenotype with childhood hypotonia, severe intellectual disability. | GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.
Willemsen MH, Nijhof B, Fenckova M, Nillesen WM, Bongers EM, Castells-Nobau A, Asztalos L, Viragh E, van Bon BW, Tezel E, Veltman JA, Brunner HG, de Vries BB, de Ligt J, Yntema HG, van Bokhoven H, Isidor B, Le Caignec C, Lorino E, Asztalos Z, Koolen DA, Vissers LE, Schenck A, Kleefstra T. | 02/22/2014 |
| Observational study of gene-disease association. (HuGE Navigator) | Identification of a linkage disequilibrium block in chromosome 1q associated with BMD in premenopausal white women.
Ichikawa S, Koller DL, Curry LR, Lai D, Xuei X, Pugh EW, Tsai YY, Doheny KF, Edenberg HJ, Hui SL, Foroud T, Peacock M, Econs MJ., Free PMC Article | 06/11/2008 |
| identification as potent transcriptional repressors interacting with MBD2 and MBD3 | Two highly related p66 proteins comprise a new family of potent transcriptional repressors interacting with MBD2 and MBD3.
Brackertz M, Boeke J, Zhang R, Renkawitz R. | 01/21/2010 |