Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent.
|
2339700 |
1990 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
In this study we describe a new dominant point mutation in COL1A1 causing a lethal form of Osteogenesis imperfecta (type II B).
|
7679635 |
1993 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
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, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 391 of the alpha 1(I) chain of type I collagen.
|
3108247 |
1987 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
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, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
BEFREE |
Perinatal lethal osteogenesis imperfecta is the result of heterozygous mutations of the COL1A1 and COL1A2 genes that encode the alpha 1(I) and alpha 2(I) chains of type I collagen, respectively.
|
7643358 |
1995 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
A type I collagen with substitution of a cysteine for glycine-748 in the alpha 1(I) chain copolymerizes with normal type I collagen and can generate fractallike structures.
|
2036375 |
1991 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
To provide additional data for genotype-phenotype analyses and to determine the proportion of mutations in the type I collagen genes among subjects with lethal forms of OI, we sequenced the coding and exon-flanking regions of COL1A1 and COL1A2 in a cohort of 63 subjects with OI type II, the perinatal lethal form of the disease.
|
18996919 |
2009 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the carboxyl-terminal propeptide of the pro alpha 1(I) chain of type I collagen result in defective chain association and produce lethal osteogenesis imperfecta.
|
8349697 |
1993 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
RNA sequence analysis of a perinatal lethal osteogenesis imperfecta mutation.
|
2470760 |
1989 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele.
|
3016737 |
1986 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
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, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
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.
|
3667599 |
1987 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes. Mutations in brief no. 152. Online.
|
10627137 |
1998 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
We describe a dominant point mutation in the COL1A1 gene causing extremely severe osteogenesis imperfecta (OI type II/III) which was detected in the dermal fibroblasts of a proband, diagnosed by ultrasonography at 24 weeks of gestation.
|
8364588 |
1993 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha 1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstable type I procollagen.
|
2913053 |
1989 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
Prenatal diagnosis of type II osteogenesis imperfecta, describing a new mutation in the COL1A1 gene.
|
16566045 |
2006 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
Osteogenesis imperfecta: comparison of molecular defects with bone histological changes.
|
7520724 |
1994 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
A dominant mutation in the COL1A1 gene that substitutes glycine for valine causes recurrent lethal osteogenesis imperfecta.
|
1511982 |
1992 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
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, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
BEFREE |
We describe a dominant point mutation in the COL1A1 gene causing extremely severe osteogenesis imperfecta (OI type II/III) which was detected in the dermal fibroblasts of a proband, diagnosed by ultrasonography at 24 weeks of gestation.
|
8364588 |
1993 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
BEFREE |
Fibroblast cell strains from three infants with perinatal lethal osteogenesis imperfecta (OI) carry unique mutations in COL1A1 (the gene encoding the pro alpha 1(I) chain of type I procollagen) that impair chain association.
|
8349697 |
1993 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
Characterization of point mutations in the collagen COL1A1 and COL1A2 genes causing lethal perinatal osteogenesis imperfecta.
|
2777764 |
1989 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
BEFREE |
To provide additional data for genotype-phenotype analyses and to determine the proportion of mutations in the type I collagen genes among subjects with lethal forms of OI, we sequenced the coding and exon-flanking regions of COL1A1 and COL1A2 in a cohort of 63 subjects with OI type II, the perinatal lethal form of the disease.
|
18996919 |
2009 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta.
|
25958000 |
2015 |