Varaico: Literature-Extracted Genetic Variants

Gene:SLURP1
Variant:p.G86R
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SLURP1

NM_020427.3:p.G86R

Associated Papers

History and prospects of Nagashima-type palmoplantar keratosis, the most common palmoplantar keratoderma in east Asian populations.

Kubo A

The Journal of Dermatology, 2025

A novel mutation in SLURP1 in patients with Mal de Meleda from Turkey.

İmren IG et al.

International Journal of Dermatology, 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

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

Case Report: Challenges in the Diagnosis of a Case of Mal de Meleda and a Therapeutic Attempt of Ixekizumab and Adalimumab.

Dai Y et al.

Frontiers in Medicine, 2022

Isolated hereditary diffuse palmoplantar keratoderma in Hong Kong Chinese patients: a case series.

Yu PT et al.

Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2021

Adult-onset blaschkoid mastocytosis: A rare manifestation of an uncommon disease.

Mahajan SA et al.

The Australasian Journal of Dermatology, 2021

Genotyping amitraz resistance profiles in Rhipicephalus microplus Canestrini (Acari: Ixodidae) ticks from Punjab, India.

Jyoti et al.

Ticks and Tick-borne Diseases, 2021

Mal de Meleda with homozygous mutation p.G86R in SLURP-1.

Jia WX et al.

International Journal of Dermatology, 2020

Abnormal keratinization and cutaneous inflammation in Mal de Meleda.

Kudo M et al.

The Journal of Dermatology, 2020

Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma.

Harjama L et al.

Acta Dermato-venereologica, 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

Coinheritance of biallelic SLURP1 and SLC39A4 mutations cause a severe genodermatosis with skin peeling and hair loss all over the body.

Harms FL et al.

The British Journal of Dermatology, 2018

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

Radiono S et al.

International Journal of Dermatology, 2017

A Mal De Meleda patient with severe flexion contractures of hands and feet: A case report in West China.

Pan Y et al.

Medicine, 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

A novel mutation in SLURP1 in patients with mal de Meleda from the Indian subcontinent.

Nellen RG et al.

Journal of Dermatological Science, 2015

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

SLURP1 mutation-impaired T-cell activation in a family with mal de Meleda.

Tjiu JW et al.

The British Journal 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

Pseudodominant inheritance with the G86R mutation in the ARS gene in Mal de Meleda.

Chao SC et al.

International Journal of Dermatology, 2006

Mal de Meleda in a taiwanese.

Chao SC et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2005

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

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

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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."