Associated Papers
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2
Clinical and Genetic Findings in Patients With Palmoplantar Keratoderma.
Gram SB et al.
Jama Dermatology, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39399040 (PubMed )
Supplement: media-1.xlsx › TableS2
A Role for Aquaporin-5 Variants in Regulation of the Actin Cytoskeleton in Non-Epidermolytic Palmoplantar Keratoderma.
Del Caño LR et al.
The Journal of Investigative Dermatology, 2024
AQP5 pathogenic variants induce palmoplantar keratoderma Bothnia type in two Chinese families.
Wang Y et al.
The Journal of Dermatology, 2022
Molecular dynamics study of water transport through AQP5-R188C mutant causing palmoplantar keratoderma (PPK) using the gating mechanism concept.
Hadidi H et al.
Biophysical Chemistry, 2021
Palmoplantar keratoderma Bothnia type with acrokeratoelastoidosis-like features due to AQP5 mutations.
Pan Y et al.
Clinical and Experimental Dermatology, 2019
Structural Basis for Mutations of Human Aquaporins Associated to Genetic Diseases.
Calvanese L et al.
International Journal of Molecular Sciences, 2018
The first Danish family reported with an AQP5 mutation presenting diffuse non-epidermolytic palmoplantar keratoderma of Bothnian type, hyperhidrosis and frequent Corynebacterium infections: a case report.
Krøigård AB et al.
Bmc Dermatology, 2016
[Hereditary palmoplantar keratoderma - a focus on clinical and molecular genetic aspects].
Kamaleswaran S et al.
Ugeskrift for Laeger, 2014
Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.
Blaydon DC et al.
American Journal of Human Genetics, 2013
Select a paper to view details