|
Striate palmoplantar keratoderma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in desmoglein 1 have already been implicated in the genetic disorder striate palmoplantar keratoderma.
|
11260246 |
2001 |
|
Striate palmoplantar keratoderma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the desmoglein 1 gene in five Pakistani families with striate palmoplantar keratoderma.
|
19157795 |
2009 |
|
Dermatitis
|
0.340 |
Biomarker
|
disease |
BEFREE |
Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting.
|
23974871 |
2013 |
|
Dermatitis
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
Some DSG1 variant carriers present with SAM syndrome (Severe dermatitis, multiple Allergies, Metabolic wasting) and a SAM-like phenotype has been reported in 4 subjects with different heterozygous DSP variants.
|
31037311 |
2019 |
|
Dermatitis
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
Recently, homozygous mutations in the desmoglein-1 (DSG1) gene and heterozygous mutation in the desmoplakin (DSP) gene have been demonstrated to be associated with severe dermatitis, multiple allergies and metabolic wasting (SAM) syndrome (Mendelian Inheritance in Man no.615508).
|
27154412 |
2016 |
|
Dermatitis
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
Monoallelic desmoglein 1 mutations have been known for many years to cause striate palmoplantar keratoderma, but only recently, biallelic loss-of-function mutations were associated with a new disorder, designated as SAM syndrome (comprising severe dermatitis, multiple allergies and metabolic wasting) in two consanguineous families.
|
25041099 |
2015 |
|
Exfoliative dermatitis
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
Desmoplakin (DSP) and Desmoglein 1 (DSG1) variants result in skin barrier defects leading to erythroderma, palmoplantar keratoderma and variable [AQ4] other features.
|
31037311 |
2019 |
|
Pemphigus
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We also showed that the profile of anti-Dsg 1 and/or anti-Dsg 3 autoantibodies is associated with the clinical variant of pemphigus.
|
14646976 |
2003 |
|
Pemphigus
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
To determine whether pemphigus sera recognize non-denatured Dsg1 domains, constructs were expressed in cultured cells and tested for reactivity with pemphigus sera using live-cell immunofluorescence.
|
7543545 |
1995 |
|
Pemphigus
|
0.100 |
Biomarker
|
disease |
BEFREE |
However, immunofluorescence staining of A431DE cells (E-cadherin positive, Dsg1 negative) with pemphigus sera showed negative results.
|
18219275 |
2008 |
|
Pemphigus
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Expression of pemphigus-autoantigen desmoglein 1 in human thymus.
|
18331528 |
2008 |
|
Pemphigus
|
0.100 |
Biomarker
|
disease |
BEFREE |
To determine whether individuals without pemphigus have B cell tolerance to Dsg1, we cloned mAbs from two patients with thrombotic thrombocytopenic purpura and a healthy person.
|
19843946 |
2009 |
|
Pemphigus
|
0.100 |
Biomarker
|
disease |
BEFREE |
Role of Dsg1- and Dsg3-Mediated Signaling in Pemphigus Autoantibody-Induced Loss of Keratinocyte Cohesion.
|
31178865 |
2019 |
|
Pemphigus
|
0.100 |
Biomarker
|
disease |
BEFREE |
Pemphigus foliaceus (PF) is one of the two main forms of pemphigus and is characterized by circulating IgG to the desmosomal cadherin desmoglein 1 (DSG1) and by subcorneal blistering of the skin.
|
31781120 |
2019 |
|
Pemphigus
|
0.100 |
Biomarker
|
disease |
BEFREE |
Pemphigus is a life-threatening blistering disorder of the skin and mucous membranes caused by pathogenic autoantibodies to desmosomal adhesion proteins desmoglein 3 (Dsg3) and Dsg1.
|
15841178 |
2005 |
|
Pemphigus
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Novel ELISA systems for antibodies to desmoglein 1 and 3: correlation of disease activity with serum autoantibody levels in individual pemphigus patients.
|
20163452 |
2010 |
|
Pemphigus
|
0.100 |
Biomarker
|
disease |
BEFREE |
Pemphigus and bullous pemphigoid (BP) are identified by autoantibodies (abs) against desmoglein 1, 3 (DSG1/3) and BP180/BP230, respectively.
|
28261028 |
2017 |
|
Pemphigus
|
0.100 |
Biomarker
|
disease |
BEFREE |
Pemphigus IgG causes skin splitting in the presence of both desmoglein 1 and desmoglein 3.
|
17640963 |
2007 |
|
Pemphigus
|
0.100 |
Biomarker
|
disease |
BEFREE |
The main limitation of this present study is the small number of patients with endemic pemphigus and healthy subjects positive for desmoglein 1 antibodies.
|
29723379 |
2018 |
|
Pemphigus
|
0.100 |
Biomarker
|
disease |
BEFREE |
The serological diagnosis of pemphigus relies on the detection of IgG autoantibodies directed against the epithelial cell surface by indirect immunofluorescence (IIF) on monkey esophagus and against desmoglein 1 (Dsg1) and Dsg3 by ELISA.
|
29740444 |
2018 |
|
Pemphigus
|
0.100 |
Biomarker
|
disease |
BEFREE |
In the present study, we examined the reactivity of the sera from various types of pemphigus with recombinant proteins of extracellular and intracellular domains of human Dsg1 and Dsg3 by immunoblot analysis.
|
11154866 |
2001 |
|
Pemphigus Vulgaris
|
0.100 |
Biomarker
|
disease |
BEFREE |
Conversely, the younger sister with PV developed PF with only anti-Dsg1 antibody detected.
|
21352303 |
2011 |
|
Pemphigus Vulgaris
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Naringenin also down-regulated the expression of Dsg1, Dsg3 and E-cadherin compared with the PV group.
|
28591691 |
2017 |
|
Pemphigus Vulgaris
|
0.100 |
Biomarker
|
disease |
BEFREE |
Pemphigus vulgaris is a serious autoimmune skin disorder associated with desmoglein 1 and 3.
|
28661086 |
2017 |
|
Pemphigus Vulgaris
|
0.100 |
Biomarker
|
disease |
BEFREE |
Additionally, we tested agreement between BIOCHIP-Dsg1 and ELISA-Dsg1 in differentiation pemphigus vulgaris subtypes.
|
30910537 |
2019 |