Osteogenesis imperfecta type III (disorder)
|
0.990 |
Biomarker
|
disease |
CTD_human |
|
|
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Osteogenesis imperfecta type III (disorder)
|
0.990 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
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Osteogenesis imperfecta type III (disorder)
|
0.990 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Osteogenesis imperfecta type III (disorder)
|
0.990 |
GeneticVariation
|
disease |
CLINVAR |
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|
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Osteogenesis imperfecta type III (disorder)
|
0.990 |
GeneticVariation
|
disease |
UNIPROT |
Substitution of cysteine for glycine at residue 415 of one allele of the alpha 1(I) chain of type I procollagen in type III/IV osteogenesis imperfecta.
|
1770532 |
1991 |
Osteogenesis imperfecta type III (disorder)
|
0.990 |
GeneticVariation
|
disease |
UNIPROT |
Further, these findings confirm that the OI type-III phenotype, previously thought to be inherited in an autosomal recessive manner, can result from new dominant mutations in the COL1A1 gene of type-I collagen.
|
2037280 |
1991 |
Osteogenesis imperfecta type III (disorder)
|
0.990 |
GeneticVariation
|
disease |
UNIPROT |
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.
|
2511192 |
1989 |
Osteogenesis imperfecta type III (disorder)
|
0.990 |
GeneticVariation
|
disease |
UNIPROT |
Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype.
|
2794057 |
1989 |
Osteogenesis imperfecta type III (disorder)
|
0.990 |
GeneticVariation
|
disease |
UNIPROT |
An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha 1 chain of type I collagen: application to four patients with osteogenesis imperfecta.
|
7691343 |
1993 |
Osteogenesis imperfecta type III (disorder)
|
0.990 |
GeneticVariation
|
disease |
BEFREE |
We determined that two siblings with type III osteogenesis imperfecta (OI) had the same single base substitution that converted the codon for glycine (Gly) 862 to a codon for serine (Ser) in exon 44 of the alpha 1 chain of the type I (alpha 1(I)) collagen gene (COL1A1).
|
7789952 |
1995 |
Osteogenesis imperfecta type III (disorder)
|
0.990 |
GeneticVariation
|
disease |
UNIPROT |
Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix.
|
7881420 |
1994 |
Osteogenesis imperfecta type III (disorder)
|
0.990 |
GeneticVariation
|
disease |
UNIPROT |
Substitution of glycine-172 by arginine in the alpha 1 chain of type I collagen in a patient with osteogenesis imperfecta, type III.
|
8019571 |
1994 |
Osteogenesis imperfecta type III (disorder)
|
0.990 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II.
|
8100209 |
1993 |
Osteogenesis imperfecta type III (disorder)
|
0.990 |
GeneticVariation
|
disease |
BEFREE |
We preformed linkage analyses in eight OI type III families using RFLPs associated with the COL1A1 and COL1A2 loci to determine whether mutations in the genes for type I collagen were responsible for this form of OI.
|
8100856 |
1993 |
Osteogenesis imperfecta type III (disorder)
|
0.990 |
GeneticVariation
|
disease |
UNIPROT |
Paternal mosaicism for a COL1A1 dominant mutation (alpha 1 Ser-415) causes recurrent osteogenesis imperfecta.
|
8364588 |
1993 |
Osteogenesis imperfecta type III (disorder)
|
0.990 |
GeneticVariation
|
disease |
UNIPROT |
Moderately severe osteogenesis imperfecta associated with substitutions of serine for glycine in the alpha 1(I) chain of type I collagen.
|
8456809 |
1993 |
Osteogenesis imperfecta type III (disorder)
|
0.990 |
GeneticVariation
|
disease |
UNIPROT |
Substitution of arginine for glycine at position 154 of the alpha 1 chain of type I collagen in a variant of osteogenesis imperfecta: comparison to previous cases with the same mutation.
|
8669434 |
1996 |
Osteogenesis imperfecta type III (disorder)
|
0.990 |
GeneticVariation
|
disease |
UNIPROT |
Mutation in the carboxy-terminal propeptide of the Pro alpha 1(I) chain of type I collagen in a child with severe osteogenesis imperfecta (OI type III): possible implications for protein folding.
|
8723681 |
1996 |
Osteogenesis imperfecta type III (disorder)
|
0.990 |
GeneticVariation
|
disease |
UNIPROT |
Serine for glycine substitutions in the C-terminal third of the alpha 1(I) chain of collagen I in five patients with nonlethal osteogenesis imperfecta.
|
9101304 |
1997 |
Osteogenesis imperfecta type III (disorder)
|
0.990 |
GeneticVariation
|
disease |
UNIPROT |
Osteogenesis imperfecta: mosaicism and refinement of the genotype-phenotype map in OI type III. Mutations in brief no. 242. Online.
|
10408781 |
1999 |
Osteogenesis imperfecta type III (disorder)
|
0.990 |
GeneticVariation
|
disease |
BEFREE |
Gly511 to Ser substitution in the COL1A1 gene in osteogenesis imperfecta type III patient with increased turnover of collagen.
|
12870654 |
2003 |
Osteogenesis imperfecta type III (disorder)
|
0.990 |
GeneticVariation
|
disease |
BEFREE |
In this study, we used MSCs from a patient with type III OI who was heterozygous for an IVS 41A+4C mutation in COL1A1.
|
15815702 |
2005 |
Osteogenesis imperfecta type III (disorder)
|
0.990 |
GeneticVariation
|
disease |
UNIPROT |
Osteogenesis imperfecta: clinical, biochemical and molecular findings.
|
16879195 |
2006 |
Osteogenesis imperfecta type III (disorder)
|
0.990 |
GeneticVariation
|
disease |
UNIPROT |
Two novel COL1A1 mutations in patients with osteogenesis imperfecta (OI) affect the stability of the collagen type I triple-helix.
|
18670065 |
2008 |
Osteogenesis imperfecta type III (disorder)
|
0.990 |
GeneticVariation
|
disease |
BEFREE |
We present a novel splicing mutation in the COL1A1 gene (c.1875+1G>C) in a 16-year-old Brazilian boy diagnosed as a type III osteogenesis imperfecta patient.
|
19283684 |
2009 |