Osteogenesis Imperfecta
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Osteogenesis Imperfecta
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Osteogenesis Imperfecta
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Osteogenesis Imperfecta
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
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.
|
1301191 |
1992 |
Osteogenesis Imperfecta
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
It is interesting that such glycine substitutions inside the COL1A1 or COL1A2 genes have been associated with many cases of osteogenesis imperfecta.
|
1376965 |
1992 |
Osteogenesis Imperfecta
|
0.700 |
Biomarker
|
disease |
BEFREE |
Type I procollagen was purified from the medium of dermal fibroblasts cultured from four individuals with osteogenesis imperfecta (OI) type II who had mutations in the COL1A1 gene of type I procollagen.
|
1460046 |
1992 |
Osteogenesis Imperfecta
|
0.700 |
Biomarker
|
disease |
BEFREE |
A tripeptide deletion in the triple-helical domain of the pro alpha 1(I) chain of type I procollagen in a patient with lethal osteogenesis imperfecta does not alter cleavage of the molecule by N-proteinase.
|
1460047 |
1992 |
Osteogenesis Imperfecta
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The clinicopathological features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by valine in the pro alpha 1 (I) chain of type I procollagen.
|
1613761 |
1992 |
Osteogenesis Imperfecta
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Therefore, in this patient with osteogenesis imperfecta there was no qualitative alteration in the osteoblast-specific expression of this mutant alpha 2(I)-collagen allele compared to dermal fibroblasts.
|
1642148 |
1992 |
Osteogenesis Imperfecta
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutation in the G+5 position of intron 33 of the pro-alpha 2(I) gene (COL1A2) that causes aberrant RNA splicing and lethal osteogenesis imperfecta. Use of carbodiimide methods that decrease the extent of DNA sequencing necessary to define an unusual mutation.
|
1711048 |
1991 |
Osteogenesis Imperfecta
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations affecting the pro alpha 1(I) or pro alpha 2(I) collagen genes have been identified in each of the major clinical types of osteogenesis imperfecta.
|
1737847 |
1992 |
Osteogenesis Imperfecta
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Transgenic mice that express a mini-gene version of the human gene for type I procollagen (COL1A1) develop a phenotype resembling a lethal form of osteogenesis imperfecta.
|
1744131 |
1991 |
Osteogenesis Imperfecta
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
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
|
0.700 |
Biomarker
|
disease |
BEFREE |
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.
|
1874719 |
1991 |
Osteogenesis Imperfecta
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Amplified cDNAs prepared from lymphoblastoid cells were used to identify previously characterized heterozygous mutations in the COL1A1 and COL1A2 genes from two patients with osteogenesis imperfecta and in the COL3A1 gene from a patient with the Ehlers-Danlos syndrome type IV.
|
1905723 |
1991 |
Osteogenesis Imperfecta
|
0.700 |
Biomarker
|
disease |
BEFREE |
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.
|
1953667 |
1991 |
Osteogenesis Imperfecta
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2.
|
1967900 |
1990 |
Osteogenesis Imperfecta
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A child with a moderately severe form of osteogenesis imperfecta was heterozygous for a G to T transition that resulted in a substitution of cysteine for glycine at position 259 in the COL1A2 gene.
|
1990009 |
1991 |
Osteogenesis Imperfecta
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
More than 70 mutations in the two structural genes for type I procollagen (COL1A1 and COL1A2) have been found in probands with osteogenesis imperfecta, a heritable disease of children characterized by fragility of bone and other tissues rich in type I collagen.
|
2010058 |
1991 |
Osteogenesis Imperfecta
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
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.
|
2035536 |
1991 |
Osteogenesis Imperfecta
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Type I procollagen was purified from cultured fibroblasts of a proband with a lethal variant of osteogenesis imperfecta.
|
2036375 |
1991 |
Osteogenesis Imperfecta
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here we show that a 52-year-old postmenopausal woman with severe osteopenia and a compression fracture of a thoracic vertebra had a mutation in the gene for the alpha 2(I) chain of type I collagen (COL1A2) similar to mutations that cause OI. cDNA was prepared from the woman's skin fibroblast RNA and assayed for the presence of a mutation by treating DNA heteroduplexes with carbodiimide.
|
2052622 |
1991 |
Osteogenesis Imperfecta
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To determine if some individuals with deforming varieties of osteogenesis imperfecta (OI) carry point mutations in the COL1A2 gene of type-I collagen, we examined collagens synthesized by cell strains from affected individuals for the presence of cysteine in the triple helical domain of the alpha 2 (I) chain, a domain from which it is normally excluded.
|
2066103 |
1991 |
Osteogenesis Imperfecta
|
0.700 |
Biomarker
|
disease |
BEFREE |
The clinical features of osteogenesis imperfecta resulting from a non-functional carboxy terminal pro alpha 1(I) propeptide of type I procollagen and a severe deficiency of normal type I collagen in tissues.
|
2121988 |
1990 |
Osteogenesis Imperfecta
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A proband with a lethal variant of osteogenesis imperfecta (OI) has been shown to have, in one allele in a gene for type I procollagen (COL1A1), a single base mutation that converted the codon for alpha 1-glycine 904 to a codon for cysteine.
|
2220807 |
1990 |