|
CAMPOMELIC DYSPLASIA
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
CAMPOMELIC DYSPLASIA
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
CAMPOMELIC DYSPLASIA
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
CAMPOMELIC DYSPLASIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The 17q breakpoints in three CMPD1 translocation cases map 50 kb or more from SOX9.
|
8001137 |
1994 |
|
CAMPOMELIC DYSPLASIA
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
These findings are consistent with the hypothesis that CD results from haploinsufficiency of SOX9.
|
7485151 |
1995 |
|
CAMPOMELIC DYSPLASIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The expression pattern and chromosomal location of Sox9 suggest that it may be the gene defective in the mouse skeletal mutant Tail-short, a potential animal model for campomelic dysplasia.
|
7704017 |
1995 |
|
CAMPOMELIC DYSPLASIA
|
1.000 |
Biomarker
|
disease |
BEFREE |
These findings are consistent with the hypothesis that CD results from haploinsufficiency of SOX9.
|
7485151 |
1995 |
|
CAMPOMELIC DYSPLASIA
|
1.000 |
Biomarker
|
disease |
BEFREE |
The molecular cloning of a translocation breakpoint in a sex reversed campomelic dysplasia patient revealed its proximity to SOX9, a gene which is related to SRY.
|
8570691 |
1995 |
|
CAMPOMELIC DYSPLASIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The skeletal malformation syndrome campomelic dysplasia (CMD1) is caused by mutations within the SOX9 gene or chromosomal rearrangement breakpoints outside SOX9.
|
8880588 |
1996 |
|
CAMPOMELIC DYSPLASIA
|
1.000 |
Biomarker
|
disease |
BEFREE |
With one exception, all SOX9 nonsense and frame shift mutations described so far in CD/sex reversal patients lead to truncation of the TA domain, suggesting that impairment of gonadal and skeletal development in these cases results, at least in part, from loss of transactivation of genes downstream of SOX9.
|
8640233 |
1996 |
|
CAMPOMELIC DYSPLASIA
|
1.000 |
Biomarker
|
disease |
BEFREE |
CMD has recently been classified into four categories: CMD I, the classical or "pure' CMD without severe impairment of intellectual development; CMD II, the Fukuyama type CMD with muscle and structural brain abnormalities; CMD III and IV with muscle, eye and brain abnormalities; the milder Finnish type CMD (CMD III) and the severe Walker-Warburg syndrome (CMD IV).
|
8930416 |
1996 |
|
CAMPOMELIC DYSPLASIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Unexpectedly, the 17q breakpoints in four CMPD1 translocation cases previously analyzed by us and others map 50 kb or more from SOX9.
|
8566951 |
1996 |
|
CAMPOMELIC DYSPLASIA
|
1.000 |
Biomarker
|
disease |
BEFREE |
The SOX9 gene maps to the long arm of human chromosome 17 and translocations in this region also result in CD.
|
8894698 |
1996 |
|
CAMPOMELIC DYSPLASIA
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The SOX9 gene maps to the long arm of human chromosome 17 and translocations in this region also result in CD.
|
8894698 |
1996 |
|
CAMPOMELIC DYSPLASIA
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations.
|
9002675 |
1997 |
|
CAMPOMELIC DYSPLASIA
|
1.000 |
Biomarker
|
disease |
BEFREE |
The DSS locus may contain a gene that controls ovarian differentiation, and SOX9 (identified from campomelic dysplasia) is required for testis differentiation.
|
9059565 |
1997 |
|
CAMPOMELIC DYSPLASIA
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
We speculate that in campomelic dysplasia a decrease in SOX9 activity would inhibit production of collagen II, and eventually other cartilage matrix proteins, leading to major skeletal anomalies.
|
9121483 |
1997 |
|
CAMPOMELIC DYSPLASIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations.
|
9002675 |
1997 |
|
CAMPOMELIC DYSPLASIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Campomelic dysplasia (CD) is a rare skeletal malformation syndrome caused by mutations in the SRY related gene SOX9, mapped to 17q24.3-q25.1.
|
9678706 |
1998 |
|
CAMPOMELIC DYSPLASIA
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization.
|
9452059 |
1998 |
|
CAMPOMELIC DYSPLASIA
|
1.000 |
Biomarker
|
disease |
BEFREE |
Deletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasia.
|
9724758 |
1998 |
|
CAMPOMELIC DYSPLASIA
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Thus, CD arises by mutations that interfere with DNA binding by SOX9 or truncate the C-terminal transactivation domain and thereby impede the ability of SOX9 to activate target genes during organ development.
|
10446171 |
1999 |
|
CAMPOMELIC DYSPLASIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This is the first report of a patient with CMPS bearing a complete deletion of one SOX9 gene, and as such is the strongest evidence to date for dose-dependent action of the SOX9 protein in normal chondrogenesis.
|
10213041 |
1999 |
|
CAMPOMELIC DYSPLASIA
|
1.000 |
Biomarker
|
disease |
BEFREE |
The six CD breakpoints map to an interval that is 140-950 kb proximal to the SOX9 gene.
|
10364523 |
1999 |
|
CAMPOMELIC DYSPLASIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations of SOX9 leading to haploinsufficiency can cause campomelic dysplasia and XY sex reversal.
|
10588843 |
1999 |