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FOXE3 mutations predispose to thoracic aortic aneurysms and dissections.
Kuang SQ, Medina-Martinez O, Guo DC, Gong L, Regalado ES, Reynolds CL, Boileau C, Jondeau G, Prakash SK, Kwartler CS, Zhu LY, Peters AM, Duan XY, Bamshad MJ, Shendure J, Nickerson DA, Santos-Cortez RL, Dong X, Leal SM, Majesky MW, Swindell EC, Jamrich M, Milewicz DM. Kuang SQ, et al. J Clin Invest. 2016 Mar 1;126(3):948-61. doi: 10.1172/JCI83778. Epub 2016 Feb 8. J Clin Invest. 2016. PMID: 26854927 Free PMC article.
Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections.
Kuang SQ, Guo DC, Prakash SK, McDonald ML, Johnson RJ, Wang M, Regalado ES, Russell L, Cao JM, Kwartler C, Fraivillig K, Coselli JS, Safi HJ, Estrera AL, Leal SM, LeMaire SA, Belmont JW, Milewicz DM; GenTAC Investigators. Kuang SQ, et al. PLoS Genet. 2011 Jun;7(6):e1002118. doi: 10.1371/journal.pgen.1002118. Epub 2011 Jun 16. PLoS Genet. 2011. PMID: 21698135 Free PMC article.
Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.
Villamizar C, Regalado ES, Fadulu VT, Hasham SN, Gupta P, Willing MC, Kuang SQ, Guo D, Muilenburg A, Yee RW, Fan Y, Towbin J, Coselli JS, LeMaire SA, Milewicz DM. Villamizar C, et al. Among authors: kuang sq. Eur J Med Genet. 2010 Mar-Apr;53(2):80-4. doi: 10.1016/j.ejmg.2009.11.001. Epub 2009 Nov 23. Eur J Med Genet. 2010. PMID: 19941982 Free PMC article.
Haploid inactivation of the amplified-in-breast cancer 3 coactivator reduces the inhibitory effect of peroxisome proliferator-activated receptor gamma and retinoid X receptor on cell proliferation and accelerates polyoma middle-T antigen-induced mammary tumorigenesis in mice.
Zhang H, Kuang SQ, Liao L, Zhou S, Xu J. Zhang H, et al. Among authors: kuang sq. Cancer Res. 2004 Oct 1;64(19):7169-77. doi: 10.1158/0008-5472.CAN-04-1176. Cancer Res. 2004. PMID: 15466215
35 results