Osteogenesis imperfecta type III (disorder)
|
0.990 |
GeneticVariation
|
disease |
BEFREE |
The OI type III was associated with a single base change in I51 of COL1A1, possibly causing an exon skipping.
|
29543922 |
2018 |
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 |
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 |
BEFREE |
The woman had a daughter who was affected with OI type III and carried an insertion frameshift mutation of c.4308_4309insA in exon 52 of the COL1A1 gene.
|
23548228 |
2013 |
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 |
GermlineCausalMutation
|
disease |
ORPHANET |
Nosology and classification of genetic skeletal disorders: 2010 revision.
|
21438135 |
2011 |
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 |
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 |
UNIPROT |
Osteogenesis imperfecta: clinical, biochemical and molecular findings.
|
16879195 |
2006 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |