PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
AP1S3 Mutations Cause Skin Autoinflammation by Disrupting Keratinocyte Autophagy and Up-Regulating IL-36 Production.
|
27388993 |
2016 |
PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking.
|
24791904 |
2014 |
PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO
|
0.600 |
SusceptibilityMutation
|
disease |
CLINVAR |
|
|
|
PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Pustulosis of Palms and Soles
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking.
|
24791904 |
2014 |
Pustulosis of Palms and Soles
|
0.500 |
Biomarker
|
disease |
CTD_human |
|
|
|
Generalized pustular psoriasis
|
0.330 |
GeneticVariation
|
disease |
BEFREE |
Generalized pustular psoriasis (GPP) is now known to be caused by biallelic variants in IL36RN and monoallelic variants in CARD14 and AP1S3.
|
31353537 |
2019 |
Generalized pustular psoriasis
|
0.330 |
GeneticVariation
|
disease |
BEFREE |
Although there are ethnic differences in the prevalences of these pathogenic alleles, from recent reports, at most 60.5% (IL36RN), 5.9% (CARD14), and 10.8% (AP1S3) of GPP patients have the mutations/variations of these genes.
|
31813117 |
2019 |
Generalized pustular psoriasis
|
0.330 |
AlteredExpression
|
disease |
BEFREE |
Coding exons of IL36RN, CARD14 and AP1S3 were sequenced in 67 patients - 61 with GPP, two with acute generalized exanthematous pustulosis and four with acrodermatitis continua of Hallopeau.
|
28887889 |
2018 |
Generalized pustular psoriasis
|
0.330 |
GermlineCausalMutation
|
disease |
ORPHANET |
AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking.
|
24791904 |
2014 |
Acrodermatitis continua of Hallopeau
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking.
|
24791904 |
2014 |
Psoriasis
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
Autoinflammatory disorder
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Asthma
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.
|
30929738 |
2019 |
Childhood asthma
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.
|
30929738 |
2019 |
Dystrophia unguium
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Psoriasiform eczema
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Dermatologic disorders
|
0.020 |
GeneticVariation
|
group |
BEFREE |
Rare variants in the genes IL36RN, CARD14 and AP1S3 have been identified to cause or contribute to pustular skin diseases, primarily generalized pustular psoriasis (GPP).
|
28887889 |
2018 |
Pustular psoriasis
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
The identification of IL36RN mutation carriers harbouring additional rare variants in CARD14 or AP1S3 indicates a more complex mode of inheritance of pustular psoriasis.
|
28887889 |
2018 |
Dermatologic disorders
|
0.020 |
GeneticVariation
|
group |
BEFREE |
Here, we report two founder mutations (c.11T>G [p.Phe4Cys] and c.97C>T [p.Arg33Trp]) in AP1S3, the gene encoding AP-1 complex subunit σ1C, in 15 unrelated individuals with a severe autoinflammatory skin disorder known as pustular psoriasis.
|
24791904 |
2014 |
Pustular psoriasis
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking.
|
24791904 |
2014 |
Malignant Neoplasms
|
0.010 |
AlteredExpression
|
group |
BEFREE |
AP1S3 overexpression was detected in TNBC clinical specimens and enhanced cancer cell aggressiveness.
|
30228364 |
2018 |
Aggressive Periodontitis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We screened IL36RN and AP1S3 for intragenic copy-number variants and 258 patients with PPP for coding changes in AP1S3.
|
28887889 |
2018 |
Primary malignant neoplasm
|
0.010 |
AlteredExpression
|
group |
BEFREE |
AP1S3 overexpression was detected in TNBC clinical specimens and enhanced cancer cell aggressiveness.
|
30228364 |
2018 |
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
|
0.010 |
Biomarker
|
disease |
BEFREE |
High expression of miR-148a-5p targets (PHLDA2, LPCAT2 and AP1S3) and miR-148a-3p targets (SMA, ENDOD1 and UHMK1) was associated with poor prognosis of patients with PDAC.
|
29660218 |
2018 |