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Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control.
Tessadori F, Giltay JC, Hurst JA, Massink MP, Duran K, Vos HR, van Es RM; Deciphering Developmental Disorders Study; Scott RH, van Gassen KLI, Bakkers J, van Haaften G. Tessadori F, et al. Among authors: van es rm, van gassen kli, van haaften g. Nat Genet. 2017 Nov;49(11):1642-1646. doi: 10.1038/ng.3956. Epub 2017 Sep 18. Nat Genet. 2017. PMID: 28920961
Chaperonin CCT checkpoint function in basal transcription factor TFIID assembly.
Antonova SV, Haffke M, Corradini E, Mikuciunas M, Low TY, Signor L, van Es RM, Gupta K, Scheer E, Vos HR, Tora L, Heck AJR, Timmers HTM, Berger I. Antonova SV, et al. Among authors: van es rm. Nat Struct Mol Biol. 2018 Dec;25(12):1119-1127. doi: 10.1038/s41594-018-0156-z. Epub 2018 Dec 3. Nat Struct Mol Biol. 2018. PMID: 30510221 Free PMC article.
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