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TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome.
Merscher S, Funke B, Epstein JA, Heyer J, Puech A, Lu MM, Xavier RJ, Demay MB, Russell RG, Factor S, Tokooya K, Jore BS, Lopez M, Pandita RK, Lia M, Carrion D, Xu H, Schorle H, Kobler JB, Scambler P, Wynshaw-Boris A, Skoultchi AI, Morrow BE, Kucherlapati R. Merscher S, et al. Cell. 2001 Feb 23;104(4):619-29. doi: 10.1016/s0092-8674(01)00247-1. Cell. 2001. PMID: 11239417 Free article.
A 5.5-Mb high-resolution integrated map of distal 11q13.
Merscher S, Bekri S, de Leeuw B, Pedeutour F, Grosgeorge J, Shows TB, Müllenbach R, Le Paslier D, Nowak NJ, Gaudray P. Merscher S, et al. Genomics. 1997 Feb 1;39(3):340-7. doi: 10.1006/geno.1996.4460. Genomics. 1997. PMID: 9119371
APOL1 risk variants affect podocyte lipid homeostasis and energy production in focal segmental glomerulosclerosis.
Ge M, Molina J, Ducasa GM, Mallela SK, Varona Santos J, Mitrofanova A, Kim JJ, Liu X, Sloan A, Mendez AJ, Banerjee S, Liu S, Szeto HH, Shin MK, Hoek M, Kopp JB, Fontanesi F, Merscher S, Fornoni A. Ge M, et al. Among authors: merscher s. Hum Mol Genet. 2021 Apr 26;30(3-4):182-197. doi: 10.1093/hmg/ddab022. Hum Mol Genet. 2021. PMID: 33517446 Free PMC article.
64 results