Ichthyosis linearis circumflexa
|
1.000 |
Biomarker
|
disease |
BEFREE |
The novel functional link between LEKTI and TG1 should be taken into account when considering the development of a targeted topical protein therapy for Netherton syndrome.
|
30801672 |
2019 |
Ichthyosis linearis circumflexa
|
1.000 |
Biomarker
|
disease |
BEFREE |
Netherton syndrome (NS) is a rare but severe type of ichthyosis characterized by atopy, allergies, and potentially lethal skin overdesquamation associated with highly elevated proteolytic activities in LEKTI-deficient epidermis.
|
31255470 |
2019 |
Ichthyosis linearis circumflexa
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Netherton syndrome (NS) is a rare life-threatening syndrome caused by SPINK5 mutations leading to a skin barrier defect and a severe atopic diathesis.
|
30477583 |
2018 |
Ichthyosis linearis circumflexa
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
LEKTI is known to be an essential molecule for the epidermal skin barrier, as demonstrated by SPINK5 nonsense mutation, which results in Netherton syndrome.
|
30270115 |
2018 |
Ichthyosis linearis circumflexa
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The identification of SPINK5, which encodes for the serine protease inhibitor LEKTI, as the gene responsible for Netherton syndrome, enabled the search for causative mutations in Netherton syndrome patients and families.
|
27905021 |
2017 |
Ichthyosis linearis circumflexa
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
KLK5 was proposed as a major protease in NS pathology, however its inactivation is not sufficient to rescue the lethal phenotype of LEKTI-deficient mice.
|
28095415 |
2017 |
Ichthyosis linearis circumflexa
|
1.000 |
Biomarker
|
disease |
BEFREE |
However, LEKTI immunohistochemistry remains the essential diagnostic investigation in cases with misleading or nonspecific histological features and is mandatory for the definitive diagnosis of NS in all patients.
|
26825155 |
2016 |
Ichthyosis linearis circumflexa
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Is c.1431-12G>A A common European mutation of <i>SPINK5?</i> report of a patient with Netherton Syndrome.
|
28289593 |
2016 |
Ichthyosis linearis circumflexa
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To study the association of the SPINK5 mutation with the NS phenotype and the extent of immunologic deficiencies in NS.
|
26865388 |
2016 |
Ichthyosis linearis circumflexa
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Intrafamily and Interfamilial Phenotype Variation and Immature Immunity in Patients With Netherton Syndrome and Finnish SPINK5 Founder Mutation.
|
26865388 |
2016 |
Ichthyosis linearis circumflexa
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Exon-Specific U1s Correct SPINK5 Exon 11 Skipping Caused by a Synonymous Substitution that Affects a Bifunctional Splicing Regulatory Element.
|
25665175 |
2015 |
Ichthyosis linearis circumflexa
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The c.891C>T synonymous transition in SPINK5 induces exon 11 (E11) skipping and causes Netherton syndrome (NS).
|
25665175 |
2015 |
Ichthyosis linearis circumflexa
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Lethal Netherton syndrome due to homozygous p.Arg371X mutation in SPINK5.
|
23331056 |
2014 |
Ichthyosis linearis circumflexa
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Netherton syndrome (NS) is a rare autosomal recessive disorder which is caused by mutations in the SPINK5 gene encoding the serine-protease inhibitor LEKTI.
|
24506793 |
2014 |
Ichthyosis linearis circumflexa
|
1.000 |
Biomarker
|
disease |
BEFREE |
SPINK5 knockdown in organotypic human skin culture as a model system for Netherton syndrome: effect of genetic inhibition of serine proteases kallikrein 5 and kallikrein 7.
|
24848304 |
2014 |
Ichthyosis linearis circumflexa
|
1.000 |
Biomarker
|
disease |
BEFREE |
It is proposed that a lack of inhibition of proteases due to a deficiency of LEKTI in the pituitary gland leads to the overprocessing of human GH in NS.
|
24015757 |
2014 |
Ichthyosis linearis circumflexa
|
1.000 |
Biomarker
|
disease |
BEFREE |
In vitro and in vivo studies in murine models and in NS patients have cast light on the pathogenesis of the disease and shown that LEKTI deficiency results in unopposed kallikrein-related peptidase 5 (KLK5) and KLK7 activities and to the overactivity of a new epidermal protease, elastase 2 (ELA2).
|
23344365 |
2013 |
Ichthyosis linearis circumflexa
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
A SIN-lentiviral vector encoding the codon-optimized SPINK5 gene under the control of a 572 bp element derived from the human involucrin promoter can confer compartment-specific LEKTI expression in NS keratinocytes with restoration of normal skin architecture.
|
24329107 |
2013 |
Ichthyosis linearis circumflexa
|
1.000 |
Biomarker
|
disease |
BEFREE |
Netherton syndrome and its multifaceted defective protein LEKTI.
|
23407075 |
2013 |
Ichthyosis linearis circumflexa
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Defect in the SPINK5 gene is known to be implicated in Netherton syndrome (NS), and has been suggested to be a locus predisposing to atopy in general.
|
21585560 |
2012 |
Ichthyosis linearis circumflexa
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A new SPINK5 mutation in a patient with Netherton syndrome: a case report.
|
21692842 |
2012 |
Ichthyosis linearis circumflexa
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements.
|
22377713 |
2012 |
Ichthyosis linearis circumflexa
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutations.
|
22089833 |
2012 |
Ichthyosis linearis circumflexa
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutations.
|
22089833 |
2012 |
Ichthyosis linearis circumflexa
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function mutations in the LEKTI encoding gene SPINK5 cause Netherton syndrome, a rare and severe genetic skin disease with a profound skin barrier defect and atopic manifestations.
|
22730493 |
2012 |