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32770541 | Osteogenesis imperfecta: Novel genetic variants and clinical observations from a clinical exome study of 54 Indian patients. | 2021 Jan |
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33737018 | Phenotypic features of dentinogenesis imperfecta associated with osteogenesis imperfecta and COL1A2 mutations. | 2021 Jun |
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| 3 |
34306033 | Novel Mutations Within Collagen Alpha1(I) and Alpha2(I) Ligand-Binding Sites, Broadening the Spectrum of Osteogenesis Imperfecta - Current Insights Into Collagen Type I Lethal Regions. | 2021 |
3 |
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31794058 | COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap. | 2020 Mar |
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| 5 |
31853946 | A novel mutation combining with rs66612022 in a Chinese pedigree suggests a new pathogenesis to osteogenesis imperfecta via whole genome sequencing. | 2020 Jul |
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| 6 |
31193991 | A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly. | 2019 Jun |
2 |
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29543922 | Mutations in the COL1A1 and COL1A2 genes associated with osteogenesis imperfecta (OI) types I or III. | 2018 |
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29572562 | Autosomal Recessive Osteogenesis Imperfecta Caused by a Novel Homozygous COL1A2 Mutation. | 2018 Sep |
3 |
| 9 |
28102596 | Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review. | 2017 Feb |
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| 10 |
28498836 | Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study. | 2017 |
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| 11 |
28904723 | Osteogenesis imperfecta Type IV: a newly identified variant at position c.560 (G > T; p.Gly187Val) in the COL1A2 gene. | 2017 |
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| 12 |
25858481 | Severe osteogenesis imperfecta caused by double glycine substitutions near the amino-terminal triple helical region in COL1A2. | 2015 Jul |
4 |
| 13 |
24140640 | Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders. | 2013 Dec |
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| 14 |
19932771 | MMP-12 catalytic domain recognizes and cleaves at multiple sites in human skin collagen type I and type III. | 2010 Apr |
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| 15 |
19208385 | Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2. | 2009 Mar |
2 |
| 16 |
16638323 | [A new mutation in COL1A1 gene in a family with osteogenesis imperfecta]. | 2006 Jan 17 |
2 |
| 17 |
11317364 | Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV. | 2001 May |
3 |
| 18 |
10807697 | Glycine to tryptophan substitution in type I collagen in a patient with OI type III: a unique collagen mutation. | 2000 May |
2 |
| 19 |
9918902 | Isoaspartyl bond formation within N-terminal sequences of collagen type I: implications for their use as markers of collagen degradation. | 1999 Feb |
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| 20 |
9272740 | Osteogenesis imperfecta phenotypes resulting from serine for glycine substitutions in the alpha2(I) collagen chain. | 1997 May-Jun |
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| 21 |
8728690 | Arachnoid cyst and chronic subdural haematoma in a child with osteogenesis imperfecta type III resulting from the substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procollagen. | 1996 Mar |
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| 22 |
7520724 | Osteogenesis imperfecta: comparison of molecular defects with bone histological changes. | 1994 May-Jun |
2 |
| 23 |
8157695 | Self-assembly of collagen I from a proband homozygous for a mutation that substituted serine for glycine at position 661 in the alpha 2(I) chain. Possible relationship between the effects of mutations on critical concentration and the severity of the phenotype. | 1994 Apr 15 |
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| 24 |
7693712 | Two additional cases of osteogenesis imperfecta with substitutions for glycine in the alpha 2(I) collagen chain. A regional model relating mutation location with phenotype. | 1993 Nov 25 |
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| 25 |
1301191 | Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotypic features of a mild form of the disease. | 1992 |
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| 26 |
1339453 | Defective folding and stable association with protein disulfide isomerase/prolyl hydroxylase of type I procollagen with a deletion in the pro alpha 2(I) chain that preserves the Gly-X-Y repeat pattern. | 1992 Apr 15 |
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| 27 |
1376965 | Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments. | 1992 Jul |
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| 28 |
1874719 | Substitutions for glycine alpha 1-637 and glycine alpha 2-694 of type I procollagen in lethal osteogenesis imperfecta. The conformational strain on the triple helix introduced by a glycine substitution can be transmitted along the helix. | 1991 Aug 25 |
2 |
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1953667 | Substitution of cysteine for glycine-alpha 1-691 in the pro alpha 1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site C-terminal to the substitution. | 1991 Nov 1 |
2 |
| 30 |
2035536 | A single base mutation in type I procollagen (COL1A1) that converts glycine alpha 1-541 to aspartate in a lethal variant of osteogenesis imperfecta: detection of the mutation with a carbodiimide reaction of DNA heteroduplexes and direct sequencing of products of the PCR. | 1991 Jun |
2 |
| 31 |
2066103 | Cysteine in the triple helical domain of the pro alpha 2(I) chain of type-I collagen in nonlethal forms of osteogenesis imperfecta. | 1991 Jun |
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| 32 |
1978725 | A substitution at a non-glycine position in the triple-helical domain of pro alpha 2(I) collagen chains present in an individual with a variant of the Marfan syndrome. | 1990 Nov |
2 |
| 33 |
2116413 | Mutations that substitute serine for glycine alpha 1-598 and glycine alpha 1-631 in type I procollagen. The effects on thermal unfolding of the triple helix are position-specific and demonstrate that the protein unfolds through a series of cooperative blocks. | 1990 Aug 15 |
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| 34 |
2325102 | The clinical features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by arginine in the pro alpha 1(I) chain of type I procollagen. | 1990 Apr |
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| 35 |
2511192 | Substitution of serine for alpha 1(I)-glycine 844 in a severe variant of osteogenesis imperfecta minimally destabilizes the triple helix of type I procollagen. The effects of glycine substitutions on thermal stability are either position of amino acid specific. | 1989 Nov 25 |
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| 36 |
2764886 | Structure of cDNA clones coding for the entire prepro alpha 1 (III) chain of human type III procollagen. Differences in protein structure from type I procollagen and conservation of codon preferences. | 1989 Jun 1 |
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| 37 |
2914942 | A single base mutation that converts glycine 907 of the alpha 2(I) chain of type I procollagen to aspartate in a lethal variant of osteogenesis imperfecta. The single amino acid substitution near the carboxyl terminus destabilizes the whole triple helix. | 1989 Feb 15 |
2 |
| 38 |
2897363 | Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotype. | 1988 Jun 5 |
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| 39 |
3198624 | A substitution of cysteine for glycine 748 of the alpha 1 chain produces a kink at this site in the procollagen I molecule and an altered N-proteinase cleavage site over 225 nm away. | 1988 Dec 15 |
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| 40 |
3667599 | A point mutation in a type I procollagen gene converts glycine 748 of the alpha 1 chain to cysteine and destabilizes the triple helix in a lethal variant of osteogenesis imperfecta. | 1987 Oct 25 |
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| 41 |
6321602 | Isolation and characterization of a human pro alpha 2(I) collagen gene segment. | 1984 Mar |
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