Patricia J.C. Dopping-Hepenstal

Keratin 16 and keratin 17 mutations cause pachyonychia congenita

W.H. Irwin McLean, E.L. Rugg, Declan P. Lunny et al. · Nature Genetics · 1995 · 353 citations

Inborn Error Of Immunity, Allergy, Keratin 16 +1

Potential of Fibroblast Cell Therapy for Recessive Dystrophic Epidermolysis Bullosa

Tracy Wong, Luke Gammon, Lu Liu et al. · Journal of Investigative Dermatology · 2008 · 248 citations · Full text

Regenerative Medicine, Fibrosis, Fibroblast Cell Therapy +8

LEKTI Is Localized in Lamellar Granules, Separated from KLK5 and KLK7, and Is Secreted in the Extracellular Spaces of the Superficial Stratum Granulosum

Akemi Ishida‐Yamamoto, Céline Deraison, Chrystelle Bonnart et al. · Journal of Investigative Dermatology · 2005 · 160 citations · Full text

Biology, Extracellular Spaces, Secretory Granules +8

Striate Palmoplantar Keratoderma Resulting from Desmoplakin Haploinsufficiency

Neil V. Whittock, G H S Ashton, Patricia J.C. Dopping-Hepenstal et al. · Journal of Investigative Dermatology · 1999 · 150 citations · Full text

Histopathology, Dermatology, Dermatopathology +4

A Homozygous Nonsense Mutation within the Dystonin Gene Coding for the Coiled-Coil Domain of the Epithelial Isoform of BPAG1 Underlies a New Subtype of Autosomal Recessive Epidermolysis Bullosa Simplex

Richard Groves, Lu Liu, Patricia J.C. Dopping-Hepenstal et al. · Journal of Investigative Dermatology · 2010 · 145 citations · Full text

Skin Development, Coiled-coil Domain, Genetic Disorder +7