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

Mal de Meleda in Indonesia: Mutations in the SLURP1 gene appear to be ubiquitous.

The Australasian journal of dermatology - 1 Feb 2016

Taylor Jessica A, Bondavalli Davide, Monif Mastura, Yap Lee Mei, Winship Ingrid

Abstract excerpt

Mal de Meleda is a rare autosomal recessive genodermatosis caused by mutations in the ARS B (SLURP1) gene, with possible founder effects in the Mediterranean and Adriatic regions. We report an affected individual from Indonesia without known consanguinity in the family, suggesting that SLURP1 gene mutations are ubiquitous. Recognition of the phenotype can be confirmed by genetic testing, thus facilitating genetic...

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 Indonesia
Share to Keratoderma, Palmoplantar

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Pedigree

Share to Urokinase-Type Plasminogen Activator

Source

Identifiers

PMID: 25557416
DOI: 10.1111/ajd.12239

Genes

SLURP1

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

Mal de Meleda in Indonesia: Mutations in the SLURP1 gene appear to be ubiquitous.PMID 25557416Read ↗

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

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 ↗

A novel mutation in SLURP1 in patients with mal de Meleda from the Indian subcontinent.Semantic proximity Read ↗

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

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

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

Identification of recurrent mutations in the ARS (component B) gene encoding SLURP-1 in two families with mal de Meleda.Semantic proximity Read ↗

A novel mutation in the ARS (component B) gene encoding SLURP-1 in a family with Mal de Meleda.Semantic proximity Read ↗

A novel mutation in SLURP1 in patients with Mal de Meleda from Turkey.Semantic proximity Read ↗

Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani familiesSemantic proximity Read ↗

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

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