Associated Papers
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
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
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
SLURP-1 is mutated in Mal de Meleda, a potential molecular signature for melanoma and a putative squamous lineage tumor suppressor gene.
Bergqvist C et al.
International Journal of Dermatology, 2018
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
The first Mal de Meleda case in Libya: identification of a SLURP1 mutation.
Bchetnia M et al.
International Journal of Dermatology, 2015
Whole-exome sequencing in patients with ichthyosis reveals modifiers associated with increased IgE levels and allergic sensitizations.
Kiritsi D et al.
The Journal of Allergy and Clinical Immunology, 2015
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 mutation in the ARS (component B) gene encoding SLURP-1 in a Turkish family with mal de Meleda.
Muslumanoglu MH et al.
The British Journal of Dermatology, 2006
Further evidence of the clinical and genetic heterogeneity of recessive transgressive PPK in the Mediterranean region.
Charfeddine C et al.
Journal of Human Genetics, 2006
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
Identification of recurrent mutations in the ARS (component B) gene encoding SLURP-1 in two families with mal de Meleda.
Ward KM et al.
The Journal of Investigative Dermatology, 2003
Mutations in the gene encoding SLURP-1 in Mal de Meleda.
Fischer J et al.
Human Molecular Genetics, 2001