|
Vesico-Ureteral Reflux
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Stenosis of external auditory canal
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Retrognathia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Renal Insufficiency
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Renal hypoplasia/aplasia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Renal dysplasia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Renal Cell Dysplasia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Preauricular skin tag
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
ovarian neoplasm
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Expression of SIX5 was not shown in benign epithelial ovarian tumours or in any of the malignant epithelial ovarian tumours.
|
10823141 |
2000 |
|
Obstruction of pelviureteric junction
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
MYOTONIC DYSTROPHY 1
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
This change in chromatin structure has been proposed as a mechanism whereby the expression of DMPK and neighboring genes, sine oculis homeobox (Drosophila) homolog 5 (SIX5) and dystrophia myotonica-containing WD repeat motif (DMWD), might be affected.
|
11592825 |
2001 |
|
MYOTONIC DYSTROPHY 1
|
0.040 |
AlteredExpression
|
disease |
BEFREE |
Together, these results demonstrate that CTG-repeat expansions can suppress local gene expression and implicate DMAHP in DM pathogenesis.
|
9241282 |
1997 |
|
MYOTONIC DYSTROPHY 1
|
0.040 |
AlteredExpression
|
disease |
BEFREE |
Our results not only identify Six5 as an activator that directs Igfbp5 expression but also suggest that reduced SIX5 expression in DM1 might contribute to specific aspects of the DM1 phenotype.
|
11978764 |
2002 |
|
MYOTONIC DYSTROPHY 1
|
0.040 |
AlteredExpression
|
disease |
BEFREE |
We show here that DMAHP expression in myoblasts, muscle and myocardium is reduced by the DM mutation is cis, and the magnitude of this effect depends on the extent of CTG repeat expansion.
|
9241283 |
1997 |
|
Myotonic Dystrophy
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Semiquantitative multiplex reverse transcriptase PCR (RT/PCR) assays of gene expression from the chromosomes carrying the expanded alleles showed marked reduction of DMPK mRNA, partial inhibition of SIX5 expression from a congenital DM chromosome, and no reduction of DMWD mRNA.
|
11592825 |
2001 |
|
Myotonic Dystrophy
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Together, these results demonstrate that CTG-repeat expansions can suppress local gene expression and implicate DMAHP in DM pathogenesis.
|
9241282 |
1997 |
|
Myotonic Dystrophy
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
An expansion of a CTG repeat at the DM1 locus causes myotonic dystrophy (DM) by altering the expression of the two adjacent genes, DMPK and SIX5, and through a toxic effect of the repeat-containing RNA.
|
11479593 |
2001 |
|
Myotonic Dystrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Quantitative analysis of RNA also indicates that although the level of cytoplasmic DMPK transcript is altered in DM patients, the levels of transcripts from 59 and DMAHP, two genes that immediately flank DMPK, are unaffected in DM cell lines.
|
9207102 |
1997 |
|
Myotonic Dystrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
These include lamin A/C in autosomal dominant Emery-Dreifuss muscular dystrophy, SMN in spinal muscular atrophy, SIX5 in myotonic dystrophy, calpain3 in type 2A limb-girdle muscular dystrophy, PABP2 in oculopharyngeal dystrophy, androgen receptor in spinal and bulbar muscular atrophy and the ataxins in hereditary ataxias.
|
10838245 |
2000 |
|
Myotonic Dystrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Identification of transcriptional targets for Six5: implication for the pathogenesis of myotonic dystrophy type 1.
|
11978764 |
2002 |
|
Myotonic Dystrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Parallel study of DM2, a closely related form of myotonic dystrophy, has revealed a similar mechanism, but also made clear that part of the attention should remain focused on a possible role for candidate loss-of-function genes from the DM1 locus itself (like DMWD, DMPK and SIX5) or elsewhere in the genome, to find explanations for clinical aspects that are unique to DM1.
|
14526185 |
2003 |
|
Myotonic Dystrophy
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
We report an expression pattern for SIX5 in the normal adult eye that matches the sites of the ocular pathology in DM.
|
9949207 |
1999 |
|
Myotonic Dystrophy
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
We show here that DMAHP expression in myoblasts, muscle and myocardium is reduced by the DM mutation is cis, and the magnitude of this effect depends on the extent of CTG repeat expansion.
|
9241283 |
1997 |
|
Myotonic Dystrophy
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The total mRNA level of DMAHP/SIX5 was significantly lower in DM than in controls, but the DMPK mRNA level was unchanged.
|
10951446 |
2000 |
|
Multicystic Dysplastic Kidney
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|