| 1 | COL1A1, COL1A2, OI3A, OI3B, OI4A, OI4B
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| Cardiopulmonary dysfunction in the Osteogenesis imperfecta mouse model Aga2 and human patients are caused by bone-independent mechanisms.
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| Thiele F, Cohrs CM, Flor A, Lisse TS, Przemeck GK, Horsch M, Schrewe A, Gailus-Durner V, Ivandic B, Katus HA, Wurst W, Reisenberg C, Chaney H, Fuchs H, Hans W, Beckers J, Marini JC, Hrabé de Angelis M.
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| Hum Mol Genet 21(16):3535-45. doi: 10.1093/hmg/dds183. Epub 2012 May 15.
2012
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| 2 | COL1A1, OI1A, OI2A, OI3A, OI4A
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| Biochemical screening of type I collagen in osteogenesis imperfecta: detection of glycine substitutions in the amino end of the alpha chains requires supplementation by molecular analysis.
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| Cabral WA, Milgrom S, Letocha AD, Moriarty E, Marini JC.
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| J Med Genet 43(8):685-90. 2006
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| 3 | COL1A1, OI3A
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| G76E Substitution in Type I Collagen Is the First Nonlethal Glutamic Acid Substitution in the alpha1(I) Chain and Alters Folding of the N-terminal End of the Helix.
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| Cabral WA, Chernoff EJ, Marini JC.
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| Mol Genet Metab 72(4):326-35. 2001
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| 4 | COL1A1, OI3A
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| Glycine to tryptophan substitution in type I collagen in a patient with OI type III: a unique collagen mutation.
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| Nuytinck L, Tukel T, Kayserili H, Apak MY, De Paepe A.
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| J Med Genet 37(5):371-5. 2000
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| 5 | COL1A1, OI1A, OI2A, OI3A
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| 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.
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| Korkko J, Ala-Kokko L, De Paepe A, Nuytinck L, Earley J, Prockop DJ.
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| Am J Hum Genet 62(1):98-110. 1998
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| 6 | COL1A1, OI1A, OI3A
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| Serine for glycine substitutions in the C-terminal third of the alpha1(I) chain of collagen I in five patients with nonlethal osteogenesis imperfecta.
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| Lund AM, et al.
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| Hum Mutat 9 : 378-382. 1997
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| 7 | COL1A1, COL1A2, OI3A, OPM
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| Substitution of glycine-661 by serine in the alpha1(I) and alpha2(I) chains of type I collagen results in different clinical and biochemical phenotypes.
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| Nuytinck L, et al.
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| Hum Genet 97 : 324-329. 1996
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| 8 | OI3A, COL1A1
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| Mutation in the carboxy-terminal propeptide of the Proalpha1(I) chain of type I collagen in a child with severe osteogenesis imperfecta (OI type III) : possible implications for protein folding.
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| Oliver JE, et al.
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| Hum Mutat 7 : 318-326. 1996
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| 9 | COL1A1, OI3A
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| Alternative splicing in COL1A1 mRNA leads to a partial null allele and two in-frame forms with structural defects in non-lethal osteogenesis imperfecta.
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| Wang Q, et al.
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| J Biol Chem 271 : 28617-28623. 1996
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| 10 | COL1A1, OI3A
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| Substitution of glycine-172 by arginine in the alpha1 chain of type I collagen in a patient with osteogenesis imperfecta, type III.
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| Mackay K, et al.
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| Hum Mutat 3 : 324-326. 1994
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| 11 | OI3A, OI3B
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| Osteogenesis imperfecta type III : mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible.
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| Wallis GA, et al.
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| J Med Genet 30 : 492-496. 1993
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| 12 | COL1A1, OI3A
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| Characterization of 3 osteogenesis imperfecta collagen alpha1(I) glycine to serine mutations demonstrating a position-dependent gradient of phenotypic severity.
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| Bateman JF, et al.
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| Biochem J 288 : 131-144. 1992
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| 13 | COL1A1, OI3A
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| Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen.
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| Pruchno CJ, et al.
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| Hum Genet 87 : 33-40. 1991
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| 14 | OI1A, OI2A, OI3A, OI3B, OI4A, OI2B
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| Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci : COLIA1 and COLIA2.
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| Sykes B, et al.
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| Am J Hum Genet 46 : 293-307. 1990
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| 15 | OI1A, OI2B, OI3B, OI4A, OI4B, OI2A, OI3A
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| Characterization of point mutations in the collagen COL1A1 and COL1A2 genes causing lethal perinatal osteogenesis imperfecta.
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| Lamande SR, et al.
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| J Biol Chem 264 : 15809-15812. 1989
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