Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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|
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Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
Biomarker
|
disease |
CTD_human |
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|
|
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
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, 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 |
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, 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 |
UNIPROT |
A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta.
|
1939261 |
1991 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
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, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
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, 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 |
Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen.
|
2037280 |
1991 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
Mutations that substitute serine for glycine alpha 1-598 and glycine alpha 1-631 in type I procollagen. The effects on thermal unfolding of the triple helix are position-specific and demonstrate that the protein unfolds through a series of cooperative blocks.
|
2116413 |
1990 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
Substitution of arginine for glycine at position 847 in the triple-helical domain of the alpha 1 (I) chain of type I collagen produces lethal osteogenesis imperfecta. Molecules that contain one or two abnormal chains differ in stability and secretion.
|
2211725 |
1990 |
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 |
RNA sequence analysis of a perinatal lethal osteogenesis imperfecta mutation.
|
2470760 |
1989 |
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 |
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 |
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 |
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 |
BEFREE |
We have characterized a mutation in a pro alpha 1(I) procollagen gene (COL1A1) that results in lethal (type II) osteogenesis imperfecta.
|
3016737 |
1986 |
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 |
Substitution of arginine for glycine 664 in the collagen alpha 1(I) chain in lethal perinatal osteogenesis imperfecta. Demonstration of the peptide defect by in vitro expression of the mutant cDNA.
|
3403550 |
1988 |
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 |
BEFREE |
We identified two infants with lethal (type II) osteogenesis imperfecta (OI) who were heterozygous for mutations in the COL1A1 gene that resulted in substitutions of aspartic acid for glycine at position 220 and arginine for glycine at position 664 in the product of one COL1A1 allele in each individual.
|
7487936 |
1995 |