Associated Papers
Autosomal dominant SLURP1 variants cause palmoplantar keratoderma and progressive symmetric erythrokeratoderma.
Jiang X et al.
The British Journal of Dermatology, 2025
Pathogenic signal peptide variants in the human genome.
Gutierrez Guarnizo SA et al.
Nar Genomics and Bioinformatics, 2023
Identification of a novel compound heterozygous mutation and a homozygous mutation of SLURP1 in Chinese families with Mal de Meleda.
Wang T et al.
Bmc Medical Genomics, 2023
Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma.
Harjama L et al.
Acta Dermato-venereologica, 2020
Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation.
Chunn LM et al.
Frontiers in Genetics, 2020
In-silico Analyses of Disease Causing Mutations in SLURP1 Gene.
Jafar Hussain HM et al.
Annals of Clinical and Laboratory Science, 2019
Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families.
Akbar A et al.
Bmc Medical Genetics, 2019
Japanese case of Mal de Meleda with a novel missense mutation of p.Thr52Ala in the second protruding finger of secreted Ly-6/uPAR-related protein 1.
Kunisada M et al.
The Journal of Dermatology, 2019
Identification of novel homozygous SLURP1 mutation in a Javanese family with Mal de Meleda.
Radiono S et al.
International Journal of Dermatology, 2017
Mal de Meleda in Indonesia: Mutations in the SLURP1 gene appear to be ubiquitous.
Taylor JA et al.
The Australasian Journal of Dermatology, 2016
Mal de Meleda: A Focused Review.
Perez C et al.
American Journal of Clinical Dermatology, 2016
Haplotype analysis in western European patients with mal de Meleda: founder effect for the W15R mutation in the SLURP1 gene.
Nellen RG et al.
The British Journal of Dermatology, 2013
Particular Mal de Meleda phenotypes in Tunisia and mutations founder effect in the Mediterranean region.
Bchetnia M et al.
Biomed Research International, 2013
Compound heterozygosity for ARS component B mutations in a Dutch patient with mal de Meleda.
Nellen RG et al.
The British Journal of Dermatology, 2009
SLURP1 is a late marker of epidermal differentiation and is absent in Mal de Meleda.
Favre B et al.
The Journal of Investigative Dermatology, 2007
A novel missense mutation in the gene encoding SLURP-1 in patients with Mal de Meleda from northern Tunisia.
Charfeddine C et al.
The British Journal of Dermatology, 2003
A novel mutation in the ARS (component B) gene encoding SLURP-1 in a family with Mal de Meleda.
Yerebakan O et al.
Clinical and Experimental Dermatology, 2003
Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda.
Marrakchi S et al.
The Journal of Investigative Dermatology, 2003
Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates.
Eckl KM et al.
Human Genetics, 2003