Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
BEFREE |
Amniotic fluid testing revealed a novel COL1A1 mutation (c.1840G>A; p.Gly614Arg).OI Type II diagnosis was made.
|
30408804 |
2019 |
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 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GermlineCausalMutation
|
disease |
ORPHANET |
Nosology and classification of genetic skeletal disorders: 2010 revision.
|
21438135 |
2011 |
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 |
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 |
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 |
Biomarker
|
disease |
MGD |
ER stress-mediated apoptosis in a new mouse model of osteogenesis imperfecta.
|
18248096 |
2008 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.
|
16786509 |
2006 |
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 |
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 |
BEFREE |
Perinatal lethal osteogenesis imperfecta is the result of heterozygous mutations of the COL1A1 and COL1A2 genes.
|
10627137 |
1998 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
Biomarker
|
disease |
MGD |
Use of the Cre/lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an alpha1(I) G349C substitution. Variability in phenotype in BrtlIV mice.
|
10608859 |
1999 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
(G586V) substitutions in the alpha 1 and alpha 2 chains of collagen I: effect of alpha-chain stoichiometry on the phenotype of osteogenesis imperfecta?
|
9143923 |
1997 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
Substitution of glycine-661 by serine in the alpha1(I) and alpha2(I) chains of type I collagen results in different clinical and biochemical phenotypes.
|
8786074 |
1996 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
Chemical cleavage method for the detection of RNA base changes: experience in the application to collagen mutations in osteogenesis imperfecta.
|
8456808 |
1993 |
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 |
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 |
UNIPROT |
BiP binds type I procollagen pro alpha chains with mutations in the carboxyl-terminal propeptide synthesized by cells from patients with osteogenesis imperfecta.
|
8349698 |
1993 |
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 |
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 |
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, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II.
|
8100209 |
1993 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
Substitution of cysteine for glycine-946 in the alpha 1(I) chain of type I procollagen causes lethal osteogenesis imperfecta.
|
7961597 |
1994 |
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 |
In this study we describe a new dominant point mutation in COL1A1 causing a lethal form of Osteogenesis imperfecta (type II B).
|
7679635 |
1993 |