Associated Papers
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
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
The first Mal de Meleda case in Libya: identification of a SLURP1 mutation.
Bchetnia M et al.
International Journal of Dermatology, 2015
Particular Mal de Meleda phenotypes in Tunisia and mutations founder effect in the Mediterranean region.
Bchetnia M et al.
Biomed Research International, 2013
Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.
Romdhane L et al.
Orphanet Journal of Rare Diseases, 2012
Coexistence of mal de Meleda and congenital cataract in a consanguineous Tunisian family: two case reports.
Bchetnia M et al.
Journal of Medical Case Reports, 2010
Highly conserved cysteines within the Ly6 domain of GPIHBP1 are crucial for the binding of lipoprotein lipase.
Beigneux AP et al.
The Journal of Biological Chemistry, 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
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