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Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.
Gracia-Diaz C, Zhou Y, Yang Q, Maroofian R, Espana-Bonilla P, Lee CH, Zhang S, Padilla N, Fueyo R, Waxman EA, Lei S, Otrimski G, Li D, Sheppard SE, Mark P, Harr MH, Hakonarson H, Rodan L, Jackson A, Vasudevan P, Powel C, Mohammed S, Maddirevula S, Alzaidan H, Faqeih EA, Efthymiou S, Turchetti V, Rahman F, Maqbool S, Salpietro V, Ibrahim SH, di Rosa G, Houlden H, Alharbi MN, Al-Sannaa NA, Bauer P, Zifarelli G, Estaras C, Hurst ACE, Thompson ML, Chassevent A, Smith-Hicks CL, de la Cruz X, Holtz AM, Elloumi HZ, Hajianpour MJ, Rieubland C, Braun D, Banka S; Genomic England Research Consortium; French DL, Heller EA, Saade M, Song H, Ming GL, Alkuraya FS, Agrawal PB, Reinberg D, Bhoj EJ, Martínez-Balbás MA, Akizu N. Gracia-Diaz C, et al. Among authors: martinez balbas ma. Nat Commun. 2023 Jul 11;14(1):4109. doi: 10.1038/s41467-023-39645-5. Nat Commun. 2023. PMID: 37433783 Free PMC article.
H3K27me3 regulates BMP activity in developing spinal cord.
Akizu N, Estarás C, Guerrero L, Martí E, Martínez-Balbás MA. Akizu N, et al. Development. 2010 Sep 1;137(17):2915-25. doi: 10.1242/dev.049395. Epub 2010 Jul 28. Development. 2010. PMID: 20667911 Free article.
Jumonji family histone demethylases in neural development.
Fueyo R, García MA, Martínez-Balbás MA. Fueyo R, et al. Cell Tissue Res. 2015 Jan;359(1):87-98. doi: 10.1007/s00441-014-1924-7. Epub 2014 Jun 21. Cell Tissue Res. 2015. PMID: 24950624 Free article. Review.
PHF2 histone demethylase prevents DNA damage and genome instability by controlling cell cycle progression of neural progenitors.
Pappa S, Padilla N, Iacobucci S, Vicioso M, Álvarez de la Campa E, Navarro C, Marcos E, de la Cruz X, Martínez-Balbás MA. Pappa S, et al. Among authors: martinez balbas ma. Proc Natl Acad Sci U S A. 2019 Sep 24;116(39):19464-19473. doi: 10.1073/pnas.1903188116. Epub 2019 Sep 5. Proc Natl Acad Sci U S A. 2019. PMID: 31488723 Free PMC article.
The histone demethylase PHF8 regulates astrocyte differentiation and function.
Iacobucci S, Padilla N, Gabrielli M, Navarro C, Lombardi M, Vicioso-Mantis M, Verderio C, de la Cruz X, Martínez-Balbás MA. Iacobucci S, et al. Among authors: martinez balbas ma. Development. 2021 Jun 15;148(12):dev194951. doi: 10.1242/dev.194951. Epub 2021 Jun 28. Development. 2021. PMID: 34081130
40 results