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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: leistritz df. 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.
WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta.
Pyott SM, Tran TT, Leistritz DF, Pepin MG, Mendelsohn NJ, Temme RT, Fernandez BA, Elsayed SM, Elsobky E, Verma I, Nair S, Turner EH, Smith JD, Jarvik GP, Byers PH. Pyott SM, et al. Among authors: leistritz df. Am J Hum Genet. 2013 Apr 4;92(4):590-7. doi: 10.1016/j.ajhg.2013.02.009. Epub 2013 Mar 14. Am J Hum Genet. 2013. PMID: 23499310 Free PMC article.
The spectrum of WRN mutations in Werner syndrome patients.
Huang S, Lee L, Hanson NB, Lenaerts C, Hoehn H, Poot M, Rubin CD, Chen DF, Yang CC, Juch H, Dorn T, Spiegel R, Oral EA, Abid M, Battisti C, Lucci-Cordisco E, Neri G, Steed EH, Kidd A, Isley W, Showalter D, Vittone JL, Konstantinow A, Ring J, Meyer P, Wenger SL, von Herbay A, Wollina U, Schuelke M, Huizenga CR, Leistritz DF, Martin GM, Mian IS, Oshima J. Huang S, et al. Among authors: leistritz df. Hum Mutat. 2006 Jun;27(6):558-67. doi: 10.1002/humu.20337. Hum Mutat. 2006. PMID: 16673358 Free PMC article.
Collagen expression in fibroblasts with a novel LMNA mutation.
Nguyen D, Leistritz DF, Turner L, MacGregor D, Ohson K, Dancey P, Martin GM, Oshima J. Nguyen D, et al. Among authors: leistritz df. Biochem Biophys Res Commun. 2007 Jan 19;352(3):603-8. doi: 10.1016/j.bbrc.2006.11.070. Epub 2006 Nov 27. Biochem Biophys Res Commun. 2007. PMID: 17150192 Free PMC article.
WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.
Friedrich K, Lee L, Leistritz DF, Nürnberg G, Saha B, Hisama FM, Eyman DK, Lessel D, Nürnberg P, Li C, Garcia-F-Villalta MJ, Kets CM, Schmidtke J, Cruz VT, Van den Akker PC, Boak J, Peter D, Compoginis G, Cefle K, Ozturk S, López N, Wessel T, Poot M, Ippel PF, Groff-Kellermann B, Hoehn H, Martin GM, Kubisch C, Oshima J. Friedrich K, et al. Among authors: leistritz df. Hum Genet. 2010 Jul;128(1):103-11. doi: 10.1007/s00439-010-0832-5. Epub 2010 May 5. Hum Genet. 2010. PMID: 20443122 Free PMC article.
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