|
Meleda Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mal de Meleda (MDM) is a rare inherited autosomal recessive genodermatosis characterized by transgrediens PPK, associated with mutations in the secreted LY6/PLAUR domain containing 1 (SLURP1) gene.
|
31443639 |
2019 |
|
Meleda Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Direct sequencing of SLURP1 was performed in MDM affected members.
|
29231248 |
2018 |
|
Meleda Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
SLURP-1 is mutated in Mal de Meleda, a potential molecular signature for melanoma and a putative squamous lineage tumor suppressor gene.
|
29231248 |
2018 |
|
Meleda Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SLURP1, a secreted protein of keratinocytes, cause a palmoplantar keratoderma (PPK) known as mal de Meleda.
|
28418591 |
2017 |
|
Meleda Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The mal de Meleda is caused by mutations in the SLURP1 gene that encodes secreted lymphocyte antigen 6/urokinase-type plasminogen receptor-related protein 1 (SLURP1).
|
29023701 |
2017 |
|
Meleda Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This study further supports the previously reported findings that homozygous mutations in the SLURP1 gene cause MDM.
|
29226984 |
2016 |
|
Meleda Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mal de Meleda in Indonesia: Mutations in the SLURP1 gene appear to be ubiquitous.
|
25557416 |
2016 |
|
Meleda Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Secreted LY6/urokinase-type plasminogen activator receptor (uPAR)-related protein-1 (SLURP-1) genetic mutations are implicated in Mal de Meleda.
|
26445964 |
2016 |
|
Meleda Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
SLURP1 is the causal gene for Mal de Meleda (MDM), an autosomal recessive skin disorder characterized by diffuse palmoplantar keratoderma and transgressive keratosis.
|
26474319 |
2015 |
|
Meleda Disease
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Heterogeneity in the properties of mutant secreted lymphocyte antigen 6/urokinase receptor-related protein 1 (SLURP1) in Mal de Meleda.
|
25919322 |
2015 |
|
Meleda Disease
|
1.000 |
Biomarker
|
disease |
CTD_human |
Our previous study revealed the immunomodulatory property of the secreted lymphocyte antigen (Ly6)/urokinase-type plasminogen activator receptor (uPAR)-related protein-1 (SLURP1), abundantly expressed in the cornea and associated with the hyperkeratotic disorder Mal de Meleda.
|
25168896 |
2014 |
|
Meleda Disease
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The genetic background giving rise to PPK-GN has hitherto been unknown, whereas MDM is known to be caused by mutations in the gene encoding secreted Ly-6/uPAR-related protein 1, SLURP-1.
|
24604124 |
2014 |
|
Meleda Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The genetic background giving rise to PPK-GN has hitherto been unknown, whereas MDM is known to be caused by mutations in the gene encoding secreted Ly-6/uPAR-related protein 1, SLURP-1.
|
24604124 |
2014 |
|
Meleda Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Palmoplantar keratoderma of the Gamborg-Nielsen type is caused by mutations in the SLURP1 gene and represents a variant of Mal de Meleda.
|
24604124 |
2014 |
|
Meleda Disease
|
1.000 |
Biomarker
|
disease |
MGD |
Mutations in SLURP1 cause mal de Meleda, a rare palmoplantar keratoderma (PPK).
|
24499735 |
2014 |
|
Meleda Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Particular Mal de Meleda phenotypes in Tunisia and mutations founder effect in the Mediterranean region.
|
24093092 |
2013 |
|
Meleda Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
In some cases, they even play important roles in maintaining skin homeostasis, as exemplified by the secreted single domain member, SLURP-1, the deficiency of which is associated with the development of palmoplantar hyperkeratosis in the congenital skin disorder Mal de Meleda.
|
23896969 |
2013 |
|
Meleda Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We identified the 82delT frame shift mutation in the SLURP-1 gene in both families MDM-12 and MDM-13 and the missense variation p.Cys99Tyr in family MDM-14.
|
24093092 |
2013 |
|
Meleda Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Haplotype analysis in western European patients with mal de Meleda: founder effect for the W15R mutation in the SLURP1 gene.
|
23290002 |
2013 |
|
Meleda Disease
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel homozygous missense mutation in SLURP1 causing Mal de Meleda with an atypical phenotype.
|
21690549 |
2011 |
|
Meleda Disease
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Human peripheral blood mononuclear cells (PBMCs) were isolated from a Taiwanese MDM family bearing the G to A substitution in nucleotide 256 in the SLURP1 gene, corresponding to a glycine to arginine substitution at amino acid 86 (G86R) in the SLURP-1 protein.
|
20854438 |
2011 |
|
Meleda Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Human peripheral blood mononuclear cells (PBMCs) were isolated from a Taiwanese MDM family bearing the G to A substitution in nucleotide 256 in the SLURP1 gene, corresponding to a glycine to arginine substitution at amino acid 86 (G86R) in the SLURP-1 protein.
|
20854438 |
2011 |
|
Meleda Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our cases for comparison included 4 cases with Mal de Meleda PPK associated with autosomal-recessive SLURP1 mutations, one case with pachyonychia congenita type II PPK associated with an autosomal-dominant KRT17 mutation, and one case with focal PPK associated with an autosomal-dominant KRT16 mutation.
|
20082890 |
2010 |
|
Meleda Disease
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Compound heterozygosity for ARS component B mutations in a Dutch patient with mal de Meleda.
|
19120323 |
2009 |
|
Meleda Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To look for SLURP-1 gene mutations in patients with MDM.
|
19692209 |
2009 |