Associated Papers
Commutative algebra neural network reveals genetic origins of diseases.
Wee J et al.
Arxiv, 2025
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
Bothnian Palmoplantar Keratoderma: Further Delineation of the Associated Phenotype.
Fertitta L et al.
Genes, 2022
AQP5 pathogenic variants induce palmoplantar keratoderma Bothnia type in two Chinese families.
Wang Y et al.
The Journal of Dermatology, 2022
Hereditary palmoplantar keratoderma - phenotypes and mutations in 64 patients.
Harjama L et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2021
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
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
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
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