Varaico: Literature-Extracted Genetic Variants

Gene:SLURP1
Variant:p.R71H
Back to variants list

SLURP1

NM_020427.3:p.R71H

Associated Papers

Atypical manifestation of psoriasis in the elderly: possible expression of Mal de Meleda diagnosis review and case report.

Onisor C et al.

Frontiers in Medicine, 2025

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

Biochemical Basis of Skin Disease Mal de Meleda: SLURP-1 Mutants Differently Affect Keratinocyte Proliferation and Apoptosis.

Shulepko MA et al.

The Journal of Investigative Dermatology, 2021

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

31443639 (PubMed )
Supplement: 12881_2019_872_MOESM1_ESM.docx

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

Assessing the role of the glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) three-finger domain in binding lipoprotein lipase.

Beigneux AP et al.

The Journal of Biological Chemistry, 2011

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

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII-

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."