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2020 12
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Craniosynostosis is a feature of CHD7-related CHARGE syndrome.
De Luca C, Picone S, Cassina M, Marziali S, Morlino S, Camerota L, Tamburrini G, Castori M, Paolillo P, Salviati L, Brancati F. De Luca C, et al. Am J Med Genet A. 2021 Jul;185(7):2160-2163. doi: 10.1002/ajmg.a.62208. Epub 2021 Apr 12. Am J Med Genet A. 2021. PMID: 33844462
Chromatin remodeller Chd7 is developmentally regulated in the neural crest by tissue-specific transcription factors.
Williams RM, Taylor G, Ling ITC, Candido-Ferreira I, Fountain DM, Mayes S, Ateş-Kalkan PS, Haug JO, Price AJ, McKinney SA, Bozhilovh YK, Tyser RCV, Srinivas S, Hughes JR, Sauka-Spengler T. Williams RM, et al. PLoS Biol. 2024 Oct 17;22(10):e3002786. doi: 10.1371/journal.pbio.3002786. eCollection 2024 Oct. PLoS Biol. 2024. PMID: 39418292 Free PMC article.
A novel missense variant in CHD7, a rare cause of CHARGE syndrome.
Joslyn P, Meddaugh H, Torres J, Patrick-Esteve J, Olister S, Mumphrey C, Zambrano R. Joslyn P, et al. Clin Dysmorphol. 2020 Jul;29(3):158-160. doi: 10.1097/MCD.0000000000000315. Clin Dysmorphol. 2020. PMID: 31929333 No abstract available.
CHD7 and Runx1 interaction provides a braking mechanism for hematopoietic differentiation.
Hsu J, Huang HT, Lee CT, Choudhuri A, Wilson NK, Abraham BJ, Moignard V, Kucinski I, Yu S, Hyde RK, Tober J, Cai X, Li Y, Guo Y, Yang S, Superdock M, Trompouki E, Calero-Nieto FJ, Ghamari A, Jiang J, Gao P, Gao L, Nguyen V, Robertson AL, Durand EM, Kathrein KL, Aifantis I, Gerber SA, Tong W, Tan K, Cantor AB, Zhou Y, Liu PP, Young RA, Göttgens B, Speck NA, Zon LI. Hsu J, et al. Proc Natl Acad Sci U S A. 2020 Sep 22;117(38):23626-23635. doi: 10.1073/pnas.2003228117. Epub 2020 Sep 3. Proc Natl Acad Sci U S A. 2020. PMID: 32883883 Free PMC article.
41 results