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De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.
Liang L, Li X, Moutton S, Schrier Vergano SA, Cogné B, Saint-Martin A, Hurst ACE, Hu Y, Bodamer O, Thevenon J, Hung CY, Isidor B, Gerard B, Rega A, Nambot S, Lehalle D, Duffourd Y, Thauvin-Robinet C, Faivre L, Bézieau S, Dure LS, Helbling DC, Bick D, Xu C, Chen Q, Mancini GMS, Vitobello A, Wang QK. Liang L, et al. Among authors: xu c. Hum Mol Genet. 2019 Sep 1;28(17):2937-2951. doi: 10.1093/hmg/ddz117. Hum Mol Genet. 2019. PMID: 31152168 Free PMC article.
Functional dominant-negative mutation of sodium channel subunit gene SCN3B associated with atrial fibrillation in a Chinese GeneID population.
Wang P, Yang Q, Wu X, Yang Y, Shi L, Wang C, Wu G, Xia Y, Yang B, Zhang R, Xu C, Cheng X, Li S, Zhao Y, Fu F, Liao Y, Fang F, Chen Q, Tu X, Wang QK. Wang P, et al. Among authors: xu c. Biochem Biophys Res Commun. 2010 Jul 16;398(1):98-104. doi: 10.1016/j.bbrc.2010.06.042. Epub 2010 Jun 15. Biochem Biophys Res Commun. 2010. PMID: 20558140 Free PMC article.
Significant association of SNP rs2106261 in the ZFHX3 gene with atrial fibrillation in a Chinese Han GeneID population.
Li C, Wang F, Yang Y, Fu F, Xu C, Shi L, Li S, Xia Y, Wu G, Cheng X, Liu H, Wang C, Wang P, Hao J, Ke Y, Zhao Y, Liu M, Zhang R, Gao L, Yu B, Zeng Q, Liao Y, Yang B, Tu X, Wang QK. Li C, et al. Among authors: xu c. Hum Genet. 2011 Mar;129(3):239-46. doi: 10.1007/s00439-010-0912-6. Epub 2010 Nov 25. Hum Genet. 2011. PMID: 21107608 Free PMC article.
Genome-wide association identifies a susceptibility locus for coronary artery disease in the Chinese Han population.
Wang F, Xu CQ, He Q, Cai JP, Li XC, Wang D, Xiong X, Liao YH, Zeng QT, Yang YZ, Cheng X, Li C, Yang R, Wang CC, Wu G, Lu QL, Bai Y, Huang YF, Yin D, Yang Q, Wang XJ, Dai DP, Zhang RF, Wan J, Ren JH, Li SS, Zhao YY, Fu FF, Huang Y, Li QX, Shi SW, Lin N, Pan ZW, Li Y, Yu B, Wu YX, Ke YH, Lei J, Wang N, Luo CY, Ji LY, Gao LJ, Li L, Liu H, Huang EW, Cui J, Jia N, Ren X, Li H, Ke T, Zhang XQ, Liu JY, Liu MG, Xia H, Yang B, Shi LS, Xia YL, Tu X, Wang QK. Wang F, et al. Among authors: xu cq. Nat Genet. 2011 Mar 6;43(4):345-9. doi: 10.1038/ng.783. Nat Genet. 2011. PMID: 21378986
The IL-33-ST2L pathway is associated with coronary artery disease in a Chinese Han population.
Tu X, Nie S, Liao Y, Zhang H, Fan Q, Xu C, Bai Y, Wang F, Ren X, Tang T, Xia N, Li S, Huang Y, Liu J, Yang Q, Zhao Y, Lv Q, Li Q, Li Y, Xia Y, Qian J, Li B, Wu G, Wu Y, Yang Y, Wang QK, Cheng X. Tu X, et al. Among authors: xu c. Am J Hum Genet. 2013 Oct 3;93(4):652-60. doi: 10.1016/j.ajhg.2013.08.009. Epub 2013 Sep 26. Am J Hum Genet. 2013. PMID: 24075188 Free PMC article.
BRG1 variant rs1122608 on chromosome 19p13.2 confers protection against stroke and regulates expression of pre-mRNA-splicing factor SFRS3.
Xiong X, Xu C, Zhang Y, Li X, Wang B, Wang F, Yang Q, Wang D, Wang X, Li S, Chen S, Zhao Y, Yin D, Huang Y, Zhu X, Wang L, Wang L, Chang L, Xu C, Li H, Ke T, Ren X, Wu Y, Zhang R, Wu T, Xia Y, Yang Y, Ma X, Tu X, Wang QK. Xiong X, et al. Among authors: xu c. Hum Genet. 2014 May;133(5):499-508. doi: 10.1007/s00439-013-1389-x. Epub 2013 Nov 5. Hum Genet. 2014. PMID: 24190014 Free PMC article.
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