Osteogenesis imperfecta type III (disorder)
|
0.990 |
Biomarker
|
disease |
CTD_human |
|
|
|
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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|
|
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 |
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 |
Because of (i) absence of COL1A1/2 mutations, (ii) a consanguineous pedigree with a similarly affected sibling and (iii) the existence of congenital joint contractures with absence of recessive variants in PLOD2, mutation analysis was performed of the FKBP10 gene, recently associated with Bruck syndrome and/or recessive OI.
|
22085994 |
2012 |
Osteogenesis imperfecta type III (disorder)
|
0.990 |
Biomarker
|
disease |
MGD |
Cardiopulmonary dysfunction in the Osteogenesis imperfecta mouse model Aga2 and human patients are caused by bone-independent mechanisms.
|
22589248 |
2012 |
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 |
CausalMutation
|
disease |
CLINVAR |
Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.
|
25944380 |
2015 |
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 |
BEFREE |
Interestingly, one type III OI sample from a patient with Bruck Syndrome showed COL1A1 and miR-29b expressions alike those from normal samples.
|
24767406 |
2014 |
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 |
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 |
GermlineCausalMutation
|
disease |
ORPHANET |
Nosology and classification of genetic skeletal disorders: 2010 revision.
|
21438135 |
2011 |
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 |
Osteogenesis imperfecta: clinical, biochemical and molecular findings.
|
16879195 |
2006 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |