Associated Papers
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
Cleavage of the pseudoprotease iRhom2 by the signal peptidase complex reveals an ER-to-nucleus signaling pathway.
Dulloo I et al.
Molecular Cell, 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
Structural Basis for Mutations of Human Aquaporins Associated to Genetic Diseases.
Calvanese L et al.
International Journal of Molecular Sciences, 2018
Autosomal dominant diffuse nonepidermolytic palmoplantar keratoderma due to a recurrent mutation in aquaporin-5.
Abdul-Wahab A et al.
The British Journal of Dermatology, 2016
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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