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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: chen q. Hum Mol Genet. 2019 Sep 1;28(17):2937-2951. doi: 10.1093/hmg/ddz117. Hum Mol Genet. 2019. PMID: 31152168 Free PMC article.
Significant association of rare variant p.Gly8Ser in cardiac sodium channel β4-subunit SCN4B with atrial fibrillation.
Xiong H, Yang Q, Zhang X, Wang P, Chen F, Liu Y, Wang P, Zhao Y, Li S, Huang Y, Chen S, Wang X, Zhang H, Yu D, Tan C, Fang C, Huang Y, Wu G, Wu Y, Cheng X, Liao Y, Zhang R, Yang Y, Ke T, Ren X, Li H, Tu X, Xia Y, Xu C, Chen Q, Wang QK. Xiong H, et al. Among authors: chen q, chen s, chen f. Ann Hum Genet. 2019 Jul;83(4):239-248. doi: 10.1111/ahg.12305. Epub 2019 Mar 1. Ann Hum Genet. 2019. PMID: 30821358 Free PMC article.
Haploinsufficiency of Klippel-Trenaunay syndrome gene Aggf1 inhibits developmental and pathological angiogenesis by inactivating PI3K and AKT and disrupts vascular integrity by activating VE-cadherin.
Zhang T, Yao Y, Wang J, Li Y, He P, Pasupuleti V, Hu Z, Jia X, Song Q, Tian XL, Hu C, Chen Q, Wang QK. Zhang T, et al. Among authors: chen q. Hum Mol Genet. 2016 Dec 1;25(23):5094-5110. doi: 10.1093/hmg/ddw273. Hum Mol Genet. 2016. PMID: 27522498 Free PMC article.
Small GTPases SAR1A and SAR1B regulate the trafficking of the cardiac sodium channel Nav1.5.
Wang Z, Yu G, Liu Y, Liu S, Aridor M, Huang Y, Hu Y, Wang L, Li S, Xiong H, Tang B, Li X, Cheng C, Chakrabarti S, Wang F, Wu Q, Karnik SS, Xu C, Chen Q, Wang QK. Wang Z, et al. Among authors: chen q. Biochim Biophys Acta Mol Basis Dis. 2018 Nov;1864(11):3672-3684. doi: 10.1016/j.bbadis.2018.09.003. Epub 2018 Sep 6. Biochim Biophys Acta Mol Basis Dis. 2018. PMID: 30251687 Free PMC article.
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