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Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.
Marini JC, Forlino A, Cabral WA, Barnes AM, San Antonio JD, Milgrom S, Hyland JC, Körkkö J, Prockop DJ, De Paepe A, Coucke P, Symoens S, Glorieux FH, Roughley PJ, Lund AM, Kuurila-Svahn K, Hartikka H, Cohn DH, Krakow D, Mottes M, Schwarze U, Chen D, Yang K, Kuslich C, Troendle J, Dalgleish R, Byers PH. Marini JC, et al. Among authors: korkko j. Hum Mutat. 2007 Mar;28(3):209-21. doi: 10.1002/humu.20429. Hum Mutat. 2007. PMID: 17078022 Free PMC article. Review.
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.
Annunen S, Körkkö J, Czarny M, Warman ML, Brunner HG, Kääriäinen H, Mulliken JB, Tranebjaerg L, Brooks DG, Cox GF, Cruysberg JR, Curtis MA, Davenport SL, Friedrich CA, Kaitila I, Krawczynski MR, Latos-Bielenska A, Mukai S, Olsen BR, Shinno N, Somer M, Vikkula M, Zlotogora J, Prockop DJ, Ala-Kokko L. Annunen S, et al. Among authors: korkko j. Am J Hum Genet. 1999 Oct;65(4):974-83. doi: 10.1086/302585. Am J Hum Genet. 1999. PMID: 10486316 Free PMC article.
Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations.
Körkkö J, Ala-Kokko L, De Paepe A, Nuytinck L, Earley J, Prockop DJ. Körkkö J, et al. Am J Hum Genet. 1998 Jan;62(1):98-110. doi: 10.1086/301689. Am J Hum Genet. 1998. PMID: 9443882 Free PMC article.
32 results