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A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus.
Semler O, Garbes L, Keupp K, Swan D, Zimmermann K, Becker J, Iden S, Wirth B, Eysel P, Koerber F, Schoenau E, Bohlander SK, Wollnik B, Netzer C. Semler O, et al. Among authors: iden s. Am J Hum Genet. 2012 Aug 10;91(2):349-57. doi: 10.1016/j.ajhg.2012.06.011. Epub 2012 Aug 2. Am J Hum Genet. 2012. PMID: 22863195 Free PMC article.
Shared and independent functions of aPKCλ and Par3 in skin tumorigenesis.
Vorhagen S, Kleefisch D, Persa OD, Graband A, Schwickert A, Saynisch M, Leitges M, Niessen CM, Iden S. Vorhagen S, et al. Among authors: iden s. Oncogene. 2018 Sep;37(37):5136-5146. doi: 10.1038/s41388-018-0313-1. Epub 2018 May 23. Oncogene. 2018. PMID: 29789715 Free PMC article.
60 results