|
Ichthyosis, X-Linked
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Ichthyosis, X-Linked
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Ichthyosis, X-Linked
|
0.800 |
Biomarker
|
disease |
BEFREE |
X-linked recessive ichthyosis (XRI) is caused by a deficiency of steroid sulfatase.
|
10393443 |
1999 |
|
Ichthyosis, X-Linked
|
0.800 |
Biomarker
|
disease |
CTD_human |
XLI has been diagnosed by assaying STS activity in placenta or lymphocytes of patients after birth.
|
10679952 |
2000 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
XLI has been diagnosed by assaying STS activity in placenta or lymphocytes of patients after birth.
|
10679952 |
2000 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
X-linked ichthyosis (XLI) is often associated with a recurrent microdeletion at Xp22.31 due to non-allelic homologous recombination between the CRI-S232 low-copy repeat regions flanking the STS gene.
|
15888481 |
2005 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
X-linked recessive ichthyosis (XLRI) is due to deletions or inactivating mutations in the steroid sulfatase (STS) gene.
|
22486194 |
2012 |
|
Ichthyosis, X-Linked
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
X-linked ichthyosis (XLI) is a recessive keratinization condition caused by deficient activity of steroid-sulfatase due to mutations in steroid sulfatase (STS) gene located on the X chromosome.
|
30021537 |
2018 |
|
Ichthyosis, X-Linked
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Steroid sulfatase activity was undetectable in the X-linked ichthyosis patient, very low in the mother, and normal in the grandmother and sister.
|
12406347 |
2002 |
|
Ichthyosis, X-Linked
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Steroid-sulfatase activity was absent in the cultured fibroblasts of nine affected members of eight families with sex-linked ichthyosis.
|
155398 |
1979 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
STS gene deletion in patients with XLI involved the sequences DXS1139 and DXF22S1.
|
18205863 |
2008 |
|
Ichthyosis, X-Linked
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Steroid sulfatase activity in nails: screening for X-linked ichthyosis.
|
2080119 |
1990 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
STS deletions may cause a milder skin phenotype than the typical presentation of XLI.
|
25659225 |
2015 |
|
Ichthyosis, X-Linked
|
0.800 |
Biomarker
|
disease |
BEFREE |
Steroid sulfatase (STS) deficiency is the biochemical defect of X-linked ichthyosis (XLI), one of the most common X-linked disorders.
|
2644167 |
1989 |
|
Ichthyosis, X-Linked
|
0.800 |
Biomarker
|
disease |
BEFREE |
Steroid sulfatase (STS)-deficient X-linked ichthyosis was diagnosed in a man with short stature and mental retardation.
|
3864397 |
1985 |
|
Ichthyosis, X-Linked
|
0.800 |
Biomarker
|
disease |
BEFREE |
Steroid sulfatase of human leukocytes and epidermis and the diagnosis of recessive X-linked ichthyosis.
|
6939689 |
1981 |
|
Ichthyosis, X-Linked
|
0.800 |
Biomarker
|
disease |
BEFREE |
A new retroviral expression vector was produced and utilized to effect STS gene transfer to primary keratinocytes from XLI patients.
|
9175741 |
1997 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Absence of steroid sulphatase activity and a complete deletion of the STS gene were demonstrated in both patients with XLI.
|
10396356 |
1999 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Additional samples were collected from the forearms of subjects with ichthyosis vulgaris (filaggrin (FLG) deficiency), recessive X-linked ichthyosis (steroid sulfatase (STS) deficiency) and autosomal recessive congenital ichthyosis type lamellar ichthyosis (transglutaminase 1 (TGM1) deficiency).
|
24130705 |
2013 |
|
Ichthyosis, X-Linked
|
0.800 |
Biomarker
|
disease |
BEFREE |
Although deletion of STS in males is known to cause X-linked ichthyosis, the clinical significance of STS copy gains is less clear, with the duplication reported in individuals with abnormal phenotypes and normal relatives.
|
21739574 |
2011 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Amino acid substitutions due to point mutations in X-linked ichthyosis are mapped onto the three-dimensional structure of human STS.
|
15607112 |
2004 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
An unusually severe XLI phenotype in addition to eczema and mild childhood asthma was investigated in a female Indian patient by fluorescent in situ hybridization (FISH) for the common STS gene deletion.
|
21945601 |
2011 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Analysis of the STS gene in 40 patients with recessive X-linked ichthyosis: a high frequency of partial deletions in a Spanish population.
|
20236202 |
2010 |
|
Ichthyosis, X-Linked
|
0.800 |
Biomarker
|
disease |
CTD_human |
Antenatal molecular diagnosis of X-linked ichthyosis by maternal serum screening for Down's syndrome.
|
9623797 |
1998 |
|
Ichthyosis, X-Linked
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
As the STS gene escapes X-inactivation, female carriers of XLI-associated genetic mutations have reduced STS expression/activity relative to non-carrier females, and could manifest similar behavioural phenotypes to males with XLI.
|
30768640 |
2019 |