|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Xp22.3 interstitial deletion: a recognizable chromosomal abnormality encompassing VCX3A and STS genes in a patient with X-linked ichthyosis and mental retardation.
|
23791652 |
2013 |
|
Ichthyosis, X-Linked
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
X-linked ichthyosis: an update.
|
10583107 |
1999 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report the first partial deletion of the STS gene spanning exons 1-5 in X-linked ichthyosis patients.
|
11231321 |
2001 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report the first case of a patient with both XLI and DEB in whom a partial deletion of the STS gene and a recessive point mutation in COL7A1 were demonstrated.
|
20523032 |
2010 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We identified 30 patients with XLI belonging to 25 different families carrying a deletion in the STS locus.
|
29901853 |
2018 |
|
Ichthyosis, X-Linked
|
0.800 |
Biomarker
|
disease |
BEFREE |
We developed an STS (D4F106S1) which maps 2kb proximal to D4F104S1, and used this to isolate a 470kb YAC (y25C2E) from the ICI YAC library and a 930kb YAC (y956A11) from the CEPH megabase library.
|
7903581 |
1993 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Three families segregating for X-linked ichthyosis (XLI) were analysed using the full-length STS cDNA probe and an anonymous polymorphic DNA sequence closely linked to the STS gene.
|
2493225 |
1989 |
|
Ichthyosis, X-Linked
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
This study describes a novel partial deletion of the STS gene in an X-linked ichthyosis patient.
|
10692123 |
2000 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This study describes a novel partial deletion of the STS gene in an X-linked ichthyosis patient.
|
10692123 |
2000 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This report shows a very high frequency of deletions in the human STS encoding gene in a representative sample of the Mexican population, and it defines the characteristics of XLI in patients whose STS gene has a complete deletion as a major molecular defect.
|
9375723 |
1997 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These results suggested that STS gene deficiency is heterogeneous in Japanese families with XLI.
|
8615047 |
1995 |
|
Ichthyosis, X-Linked
|
0.800 |
Biomarker
|
disease |
BEFREE |
These results demonstrate that deficiency of steroid sulfatase in recessive x-linked ichthyosis results in excessive accumulation of a substrate, cholesterol sulfate, in the pathologic scale, which may underly the pathogenesis of the scaling in this disorder.
|
6947980 |
1981 |
|
Ichthyosis, X-Linked
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
The skin is also an important site of STS activity, and deficiency of this enzyme is associated with X-linked ichthyosis.
|
15561802 |
2005 |
|
Ichthyosis, X-Linked
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
The patient had undetectable levels of STS activity when compared with normal control (0.00 pmol mg(-1) protein h(-1)) which confirmed the diagnosis of X-linked ichthyosis (XLI) .
|
19200188 |
2009 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The gene responsible for the X-linked KS has been localized to the terminal part of the X-chromosome short arm (Xp22.3 region), immediately proximal to the steroid sulfatase gene responsible for X-linked ichthyosis.
|
8473391 |
1993 |
|
Ichthyosis, X-Linked
|
0.800 |
Biomarker
|
disease |
BEFREE |
The gene and protein of STS were examined in 19 Japanese patients with XLI.
|
11910205 |
2001 |
|
Ichthyosis, X-Linked
|
0.800 |
Biomarker
|
disease |
BEFREE |
The diagnosis of multiple sulfatase deficiency was demonstrated by measuring sulfatase activities in fresh leukocytes: there were large deficiencies of arylsulfatase A and B plus reduced arylsulfatase C. The ichthyosis associated with multiple sulfatase deficiency has an autosomal recessive inheritance, is caused by steroid sulfatase deficiency, and the scaling is sometimes milder than in X-linked recessive ichthyosis.
|
9336808 |
1998 |
|
Ichthyosis, X-Linked
|
0.800 |
Biomarker
|
disease |
BEFREE |
The diagnosis of XLI was based on: (1) demonstration of steroid sulfatase deficiency in cultured skin fibroblasts; (2) lack of hybridization of patient's deoxyribonucleic acid (DNA) with specific steroid sulfatase complementary DNA probe; (3) electrophoretic mobility of plasma lipoproteins.
|
1923309 |
1991 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The clinical diagnosis of XLI was confirmed molecularly by laboratory evidence of a maternal 1.61 M deletion (including the STS gene) on ChrXp22.31.
|
26676689 |
2016 |
|
Ichthyosis, X-Linked
|
0.800 |
Biomarker
|
disease |
BEFREE |
The blood STS (VDRL) was reactive at 1:64.
|
76401 |
1978 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Submicroscopic deletions at Xp22.31 involving STS and ANOS1 (alias KAL1) underlie X-linked ichthyosis and Kallmann syndrome, respectively.
|
28253503 |
2017 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Some patients with XLI with terminal deletions of Xp22.3 involving marker DXS1139 and the STS gene show mental retardation (MR); VCX3A is the only gene located on this critical region.
|
18076704 |
2008 |
|
Ichthyosis, X-Linked
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Scaling in patients with recessive X-linked ichthyosis is caused by lack of activity of the enzyme steroid sulfatase.
|
2366000 |
1990 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Regional assignment of the steroid sulfatase-X-linked ichthyosis locus: implications for a noninactivated region on the short arm of human X chromosome.
|
293682 |
1979 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Recessive X-linked ichthyosis (XLI), the second most common ichthyosis, is caused by mutations in the STS gene encoding the steroid sulfatase enzyme.
|
29672931 |
2019 |