Mutations in AQP5, Encoding a Water-Channel Protein, Cause Autosomal-Dominant Diffuse Nonepidermolytic Palmoplantar Keratoderma

Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)

Godfrina McKoy, Nikos Protonotarios, Andrew H. Crosby et al. · The Lancet · 2000 · 1.1K citations

Cardiomyopathy, Pathology, Dermatology +5

Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma

Elizabeth E. Norgett · Human Molecular Genetics · 2000 · 802 citations · Full text

Molecular structure of the water channel through aquaporin CHIP. The hourglass model.

Jin Sup Jung, Gregory M. Preston, Barbara L. Smith et al. · Journal of Biological Chemistry · 1994 · 640 citations · Full text

Molecular Biology, Water Channel, Protein Folding +21

Increased microtubule stability and alpha tubulin acetylation in cells transfected with microtubule-associated proteins MAP1B, MAP2 or tau

Reiko Takemura, Shigeo Okabe, Takashige Umeyama et al. · Journal of Cell Science · 1992 · 324 citations

Microtubule Organization, Molecular Biology, Cytoskeleton +18

Mutations in GJB6 cause hidrotic ectodermal dysplasia

Jérôme Lamartine, Guilherme Munhoz Essenfelder, Zoha Kibar et al. · Nature Genetics · 2000 · 287 citations

Genetic Disorder, Genetics, Pathology +3