|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
Biomarker
|
disease |
MGD |
Two human patients with spondyloepiphyseal dysplasia (SED) congenita have been reported with the same amino acid substitution at position 789 in the human COL2A1 gene.
|
12968670 |
2003 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Two human patients with spondyloepiphyseal dysplasia (SED) congenita have been reported with the same amino acid substitution at position 789 in the human COL2A1 gene.
|
12968670 |
2003 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
PSACH results from mutations in the cartilage oligomeric matrix protein (COMP) gene, while SEDC is caused by mutations in the gene for type II procollagen (COL2A1).
|
11746045 |
2001 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutation in the COL2A1 gene has been identified in one family with spondyloepiphyseal dysplasia and calcium pyrophosphate and apatite crystalline deposits.
|
11333354 |
2001 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
PSACH results from mutations in the cartilage oligomeric matrix protein (COMP) gene, while SEDC is caused by mutations in the gene for type II procollagen (COL2A1).
|
11746045 |
2001 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Having explained the digital findings and macrocephaly, the skeletal changes were thought to fit best congenital spondyloepiphyseal dysplasia (SEDC MIM #183900), a type II collagen disorder.
|
10678662 |
2000 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual.
|
10678662 |
2000 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Achondrogenesis II-hypochondrogenesis and severe spondyloepiphyseal dysplasia congenita (SEDC) are lethal forms of dwarfism caused by dominant mutations in the type II collagen gene (COL2A1).
|
10745044 |
2000 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the COL2A1 gene have been identified in one family with spondyloepiphyseal dysplasia and secondary deposits of pyrophosphate and apatite crystalline deposits.
|
11123024 |
1999 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
Biomarker
|
disease |
MGD |
Collagen II is essential for the removal of the notochord and the formation of intervertebral discs.
|
9832566 |
1998 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Alternative splicing of exon 12 of the COL2A1 gene interrupts the triple helix of type-II collagen in the Kniest form of spondyloepiphyseal dysplasia.
|
8893763 |
1996 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
Biomarker
|
disease |
BEFREE |
Hereditary osteoarthritis with mild spondyloepiphyseal dysplasia--are there "hot spots" on COL2A1?
|
8877930 |
1996 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita.
|
7847372 |
1995 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Type II procollagen gene (COL2A1) mutation in exon 11 associated with spondyloepiphyseal dysplasia, tall stature and precocious osteoarthritis.
|
7738948 |
1995 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
Biomarker
|
disease |
MGD |
Transgenic mice with targeted inactivation of the Col2 alpha 1 gene for collagen II develop a skeleton with membranous and periosteal bone but no endochondral bone.
|
7590256 |
1995 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Using this screening procedure we have been able to identify a new (Gly895 to Ser) mutation in the COL2A1 gene of a patient with a mild form of spondyloepiphyseal dysplasia congenita.
|
7705841 |
1995 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis.
|
7757086 |
1995 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia.
|
7700721 |
1994 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We analyzed the COL2A1 gene in a 27-year-old woman and her 47-year-old mother presenting with severe premature osteoarthrosis and X-ray signs compatible with mild spondyloepiphyseal dysplasia.
|
7866404 |
1994 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A single base mutation in the type II procollagen gene (COL2A1) that converts glycine alpha 1-247 to serine in a family with late-onset spondyloepiphyseal dysplasia.
|
8019561 |
1994 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
This study confirmed the importance of dominant negative mutations of the COL2A1 gene in producing the spondyloepiphyseal dysplasia congenita phenotype.
|
8325895 |
1993 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The findings in this study confirm that mutations of exon 48 of the COL2A1 gene, that alter the normal Gly-X-Y triplet structure of the corresponding region of alpha 1(II) chains of type II collagen, produce the spondyloepiphyseal dysplasia congenita phenotype.
|
8423604 |
1993 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-->Cys mutation in the procollagen type II gene (COL2A1).
|
8244341 |
1993 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The findings in this study confirm that mutations of exon 48 of the COL2A1 gene, that alter the normal Gly-X-Y triplet structure of the corresponding region of alpha 1(II) chains of type II collagen, produce the spondyloepiphyseal dysplasia congenita phenotype.
|
8423604 |
1993 |
|
Spondyloepiphyseal dysplasia, congenita
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This study confirmed the importance of dominant negative mutations of the COL2A1 gene in producing the spondyloepiphyseal dysplasia congenita phenotype.
|
8325895 |
1993 |