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A loss-of-function variant in SUV39H2 identified in autism-spectrum disorder causes altered H3K9 trimethylation and dysregulation of protocadherin β-cluster genes in the developing brain.
Balan S, Iwayama Y, Ohnishi T, Fukuda M, Shirai A, Yamada A, Weirich S, Schuhmacher MK, Dileep KV, Endo T, Hisano Y, Kotoshiba K, Toyota T, Otowa T, Kuwabara H, Tochigi M, Watanabe A, Ohba H, Maekawa M, Toyoshima M, Sasaki T, Nakamura K, Tsujii M, Matsuzaki H, Zhang KYJ, Jeltsch A, Shinkai Y, Yoshikawa T. Balan S, et al. Among authors: yamada a. Mol Psychiatry. 2021 Dec;26(12):7550-7559. doi: 10.1038/s41380-021-01199-7. Epub 2021 Jul 15. Mol Psychiatry. 2021. PMID: 34262135
Derepression of inflammation-related genes link to microglia activation and neural maturation defect in a mouse model of Kleefstra syndrome.
Yamada A, Hirasawa T, Nishimura K, Shimura C, Kogo N, Fukuda K, Kato M, Yokomori M, Hayashi T, Umeda M, Yoshimura M, Iwakura Y, Nikaido I, Itohara S, Shinkai Y. Yamada A, et al. iScience. 2021 Jun 17;24(7):102741. doi: 10.1016/j.isci.2021.102741. eCollection 2021 Jul 23. iScience. 2021. PMID: 34258564 Free PMC article.
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.
Rots D, Bouman A, Yamada A, Levy M, Dingemans AJM, de Vries BBA, Ruiterkamp-Versteeg M, de Leeuw N, Ockeloen CW, Pfundt R, de Boer E, Kummeling J, van Bon B, van Bokhoven H, Kasri NN, Venselaar H, Alders M, Kerkhof J, McConkey H, Kuechler A, Elffers B, van Beeck Calkoen R, Hofman S, Smith A, Valenzuela MI, Srivastava S, Frazier Z, Maystadt I, Piscopo C, Merla G, Balasubramanian M, Santen GWE, Metcalfe K, Park SM, Pasquier L, Banka S, Donnai D, Weisberg D, Strobl-Wildemann G, Wagemans A, Vreeburg M, Baralle D, Foulds N, Scurr I, Brunetti-Pierri N, van Hagen JM, Bijlsma EK, Hakonen AH, Courage C, Genevieve D, Pinson L, Forzano F, Deshpande C, Kluskens ML, Welling L, Plomp AS, Vanhoutte EK, Kalsner L, Hol JA, Putoux A, Lazier J, Vasudevan P, Ames E, O'Shea J, Lederer D, Fleischer J, O'Connor M, Pauly M, Vasileiou G, Reis A, Kiraly-Borri C, Bouman A, Barnett C, Nezarati M, Borch L, Beunders G, Özcan K, Miot S, Volker-Touw CML, van Gassen KLI, Cappuccio G, Janssens K, Mor N, Shomer I, Dominissini D, Tedder ML, Muir AM, Sadikovic B, Brunner HG, Vissers LELM, Shinkai Y, Kleefstra T. Rots D, et al. Among authors: yamada a. Am J Hum Genet. 2024 Aug 8;111(8):1605-1625. doi: 10.1016/j.ajhg.2024.06.008. Epub 2024 Jul 15. Am J Hum Genet. 2024. PMID: 39013458
Erratum: Derepression of inflammation-related genes link to microglia activation and neural maturation defect in a mouse model of Kleefstra syndrome.
Yamada A, Hirasawa T, Nishimura K, Shimura C, Kogo N, Fukuda K, Kato M, Yokomori M, Hayashi T, Umeda M, Yoshimura M, Iwakura Y, Nikaido I, Itohara S, Shinkai Y. Yamada A, et al. iScience. 2021 Oct 19;24(11):103253. doi: 10.1016/j.isci.2021.103253. eCollection 2021 Nov 19. iScience. 2021. PMID: 34712927 Free PMC article.
3,240 results