Associated Papers
A case of pachyonychia congenita with a hotspot variant at Arg127 in KRT16: Disease severity assessment using AlphaMissense technology.
Noda T et al.
The Journal of Dermatology, 2024
Mutation p.Arg127Pro in the 1A Domain of KRT16 Causes Pachyonychia Congenita in Chinese Patient: A Case Report of PC Associated with Acral Melanoma.
Ge WW et al.
Clinical, Cosmetic and Investigational Dermatology, 2024
Focal Palmoplantar Keratoderma and Gingival Keratosis Caused by a KRT16 Mutation.
Zaki TD et al.
Cutis, 2022
A KRT16 mutation in the first Chinese pedigree with Pachyonychia congenita and review of the literatures.
Xu Q et al.
Journal of Cosmetic Dermatology, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
The molecular genetic analysis of the expanding pachyonychia congenita case collection.
Wilson NJ et al.
The British Journal of Dermatology, 2014
Mutation p.Leu128Pro in the 1A domain of K16 causes pachyonychia congenita with focal palmoplantar keratoderma in a Chinese family.
Dai L et al.
European Journal of Pediatrics, 2014
Transgrediens pachyonychia congenita (PC): case series of a nonclassical PC presentation.
Harris K et al.
The British Journal of Dermatology, 2012
Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations.
Fu T et al.
The Journal of Investigative Dermatology, 2011
A large mutational study in pachyonychia congenita.
Wilson NJ et al.
The Journal of Investigative Dermatology, 2011
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Identification of two recurrent mutations in keratin genes in three cases with pachyonychia congenita.
Wu JW et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2009
A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita.
Liao H et al.
Journal of Dermatological Science, 2007
Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1.
Smith FJ et al.
The British Journal of Dermatology, 1999