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
Mal de Meleda with homozygous mutation p.G86R in SLURP-1.
Jia WX et al.
International Journal of Dermatology, 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
Particular Mal de Meleda phenotypes in Tunisia and mutations founder effect in the Mediterranean region.
Bchetnia M et al.
Biomed Research International, 2013
A Sporadic Case of Mal de Meleda Caused by Gene Mutation in SLURP-1 in Korea.
Oh YJ et al.
Annals of Dermatology, 2011
Mutations in the SLURP-1 gene underlie Mal de Meleda in three Pakistani families.
Wajid M et al.
Journal of Dermatological Science, 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
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
A recurrent mutation in the ARS (component B) gene encoding SLURP-1 in Turkish families with mal de Meleda: evidence of a founder effect.
Hu G et al.
The Journal of Investigative 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
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