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Identification and functional analysis of CITED2 mutations in patients with congenital heart defects.
Sperling S, Grimm CH, Dunkel I, Mebus S, Sperling HP, Ebner A, Galli R, Lehrach H, Fusch C, Berger F, Hammer S. Sperling S, et al. Hum Mutat. 2005 Dec;26(6):575-82. doi: 10.1002/humu.20262. Hum Mutat. 2005. PMID: 16287139
We present for the first time functionally relevant mutations of CITED2 in patients with congenital heart defects (CHDs). CITED2 encodes a CREBBP/EP300 interacting transcriptional modulator of HIF1A and TFAP2. ...
We present for the first time functionally relevant mutations of CITED2 in patients with congenital heart defects (CHDs). CITED2 encodes a …
Screening and association testing of common coding variation in steroid hormone receptor co-activator and co-repressor genes in relation to breast cancer risk: the Multiethnic Cohort.
Haiman CA, Garcia RR, Hsu C, Xia L, Ha H, Sheng X, Le Marchand L, Kolonel LN, Henderson BE, Stallcup MR, Greene GL, Press MF. Haiman CA, et al. BMC Cancer. 2009 Jan 30;9:43. doi: 10.1186/1471-2407-9-43. BMC Cancer. 2009. PMID: 19183483 Free PMC article.
METHODS: We sequenced the coding exons of 17 genes (EP300, CCND1, NME1, NCOA1, NCOA2, NCOA3, SMARCA4, SMARCA2, CARM1, FOXA1, MPG, NCOR1, NCOR2, CALCOCO1, PRMT1, PPARBP and CREBBP) suggested to influence transcriptional activation by steroid hormone receptors in a mu …
METHODS: We sequenced the coding exons of 17 genes (EP300, CCND1, NME1, NCOA1, NCOA2, NCOA3, SMARCA4, SMARCA2, CARM1, FOXA1, MPG, NCO …