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Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes.
Pyott SM, Schwarze U, Christiansen HE, Pepin MG, Leistritz DF, Dineen R, Harris C, Burton BK, Angle B, Kim K, Sussman MD, Weis M, Eyre DR, Russell DW, McCarthy KJ, Steiner RD, Byers PH. Pyott SM, et al. Among authors: mccarthy kj. Hum Mol Genet. 2011 Apr 15;20(8):1595-609. doi: 10.1093/hmg/ddr037. Epub 2011 Jan 31. Hum Mol Genet. 2011. PMID: 21282188 Free PMC article.
Genome-wide association studies and Mendelian randomization analyses provide insights into the causes of early-onset colorectal cancer.
Laskar RS, Qu C, Huyghe JR, Harrison T, Hayes RB, Cao Y, Campbell PT, Steinfelder R, Talukdar FR, Brenner H, Ogino S, Brendt S, Bishop DT, Buchanan DD, Chan AT, Cotterchio M, Gruber SB, Gsur A, van Guelpen B, Jenkins MA, Keku TO, Lynch BM, Le Marchand L, Martin RM, McCarthy K, Moreno V, Pearlman R, Song M, Tsilidis KK, Vodička P, Woods MO, Wu K, Hsu L, Gunter MJ, Peters U, Murphy N; Colorectal Transdisciplinary (CORECT) Study, the Colon Cancer Family Registry (CCFR), Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO). Laskar RS, et al. Ann Oncol. 2024 Feb 24:S0923-7534(24)00058-9. doi: 10.1016/j.annonc.2024.02.008. Online ahead of print. Ann Oncol. 2024. PMID: 38408508 Free article.
New insights into proteinuria/albuminuria.
Comper WD, Vuchkova J, McCarthy KJ. Comper WD, et al. Among authors: mccarthy kj. Front Physiol. 2022 Sep 26;13:991756. doi: 10.3389/fphys.2022.991756. eCollection 2022. Front Physiol. 2022. PMID: 36225307 Free PMC article. Review.
117 results