CAMPOMELIC DYSPLASIA
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Mutations in SOX9 cause campomelic dysplasia, a haploinsufficiency disorder concordant with the expression profile of SOX9 during embryogenesis.
|
21237710 |
2011 |
CAMPOMELIC DYSPLASIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We present a patient with acampomelic CMD1 with a de novo SOX9 missense mutation and report his clinical course to age one year, thereby contributing to genotype-phenotype correlation in CMD1.2000.
|
10951468 |
2000 |
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 |
GeneticVariation
|
disease |
UNIPROT |
These findings are consistent with the hypothesis that CD results from haploinsufficiency of SOX9.
|
7485151 |
1995 |
CAMPOMELIC DYSPLASIA
|
1.000 |
Biomarker
|
disease |
BEFREE |
Recent data indicate that this regulatory domain may extend substantially further, with identification of several disruptions greater than 1 Mb upstream of SOX9 associated with isolated Pierre Robin sequence (PRS), a craniofacial disorder that is frequently a component of CD.
|
19473998 |
2009 |
CAMPOMELIC DYSPLASIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SOX9 cause campomelic dysplasia, a haploinsufficiency disorder resulting in severe skeletal defects and dwarfism.
|
22102413 |
2012 |
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 |
A homozygous nonsense mutation in SOX9 in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion.
|
15806394 |
2005 |
CAMPOMELIC DYSPLASIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
IGFBP-rP1 could upreguate Transgelin (TAGLN), downregulate SRY (sex determining region Y)-box 9(campomelic dysplasia, autosomal sex-reversal) (SOX9), insulin receptor substrate 1(IRS1), cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) (CDKN2B), amphiregulin(schwannoma-derived growth factor) (AREG) and immediate early response 5-like(IER5L) in RKO, SW620 and CW2 colon cancer cells, verified by Real time Reverse Transcription Polymerase Chain Reaction (rtRT-PCR).
|
20977730 |
2010 |
CAMPOMELIC DYSPLASIA
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome.
|
24038782 |
2013 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
When first trimester hygroma colli is accompanied by specific findings of the lower limbs, the diagnosis of CD can be investigated through SOX9 mutation analysis.
|
19033726 |
2008 |
CAMPOMELIC DYSPLASIA
|
1.000 |
Biomarker
|
disease |
BEFREE |
Chromosomal rearrangements with breakpoints mapping up to 1.6 Mb up- and downstream to SOX9, and disrupting its distant cis-regulatory elements, have been described in patients with milder forms of campomelic dysplasia, Pierre Robin sequence, and sex reversal.
|
26059046 |
2015 |
CAMPOMELIC DYSPLASIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pierre Robin sequence (PRS) is a craniofacial disorder that is frequently an endophenotype of CD and a locus for isolated PRS at ∼1.2-1.5 Mb upstream of SOX9 has been previously reported.
|
24934569 |
2014 |
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 |
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 |
UNIPROT |
Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation.
|
11323423 |
2001 |
CAMPOMELIC DYSPLASIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
p.His165Pro: a novel SOX9 missense mutation of campomelic dysplasia.
|
23551858 |
2013 |
CAMPOMELIC DYSPLASIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Human SOX9 mutations can lead to either the complete Campomelic Dysplasia syndrome, or isolated clinical features, depending upon whether the mutation occurs in the coding region or in enhancer regions.
|
28323209 |
2017 |
CAMPOMELIC DYSPLASIA
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
CAMPOMELIC DYSPLASIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In humans, SOX9 heterozygous mutations cause the severe skeletal dysmorphology syndrome campomelic dysplasia.
|
11371614 |
2001 |
CAMPOMELIC DYSPLASIA
|
1.000 |
Biomarker
|
disease |
BEFREE |
Importantly, they further provide the first evidence for the modulation of a gene product other than Sox9 itself which is capable of modeling pathological aspects of CD and underscore a potentially valuable therapeutic target for patients with the disorder.
|
28166224 |
2017 |
CAMPOMELIC DYSPLASIA
|
1.000 |
Biomarker
|
disease |
BEFREE |
Haploinsufficiency of SOX9 is known to cause campomelic dysplasia (CD).
|
17409199 |
2007 |
CAMPOMELIC DYSPLASIA
|
1.000 |
Biomarker
|
disease |
MGD |
In humans, SOX9 heterozygous mutations cause the severe skeletal dysmorphology syndrome campomelic dysplasia.
|
11371614 |
2001 |