Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Particular Mal de Meleda phenotypes in Tunisia and mutations founder effect in the Mediterranean region.

BioMed research international - 1 Jan 2013

Bchetnia Mbarka, Laroussi Nadia, Youssef Monia, Charfeddine Cherine, Ben Brick Ahlem Sabrine, Boubaker Mohamed Samir, Mokni Mourad, Abdelhak Sonia, Zili Jameleddine, Benmously Rym

Abstract excerpt

Mal de Meleda (MDM) is a rare, autosomal recessive form of palmoplantar keratoderma. It is characterized by erythema and hyperkeratosis of the palms and soles that progressively extend to the dorsal surface of the hands and feet. It is caused by mutations in SLURP-1 gene encoding for secreted mammalian Ly-6/uPAR-related protein 1 (SLURP-1). We performed mutational analysis by direct sequencing of SLURP-1 gene in...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Antigens, Ly
Share to Founder Effect

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Frameshift Mutation

Share to High-Throughput Nucleotide Sequencing

Share to Keratoderma, Palmoplantar

Share to Mediterranean Region

Share to Tunisia

Share to Urokinase-Type Plasminogen Activator

Source

Open in PubMed Open full text

Identifiers

PMID: 24093092
DOI: 10.1155/2013/206803
PMCID: PMC3777190

Genes

SLURP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Particular Mal de Meleda phenotypes in Tunisia and mutations founder effect in the Mediterranean region.PMID 24093092Read ↗

A novel missense mutation in the gene encoding SLURP-1 in patients with Mal de Meleda from northern Tunisia.Semantic proximity Read ↗

Further evidence of the clinical and genetic heterogeneity of recessive transgressive PPK in the Mediterranean region.Semantic proximity Read ↗

Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates.Semantic proximity Read ↗

Mutations in the gene encoding SLURP-1 in Mal de Meleda.Semantic proximity Read ↗

Mal de Meleda: A Focused Review.Semantic proximity Read ↗

Identification of novel homozygous SLURP1 mutation in a Javanese family with Mal de Meleda.Semantic proximity Read ↗

Palmoplantar keratoderma of the Gamborg-Nielsen type is caused by mutations in the SLURP1 gene and represents a variant of Mal de Meleda.Semantic proximity Read ↗

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.Semantic proximity Read ↗

SLURP-1 is mutated in Mal de Meleda, a potential molecular signature for melanoma and a putative squamous lineage tumor suppressor gene.Semantic proximity Read ↗

Mal de meleda - through history and today.Semantic proximity Read ↗

Identification of a novel compound heterozygous mutation and a homozygous mutation of SLURP1 in Chinese families with Mal de Meleda.Semantic proximity Read ↗

Abnormal keratinization and cutaneous inflammation in Mal de Meleda.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.