Associated Papers
Clinical and Genetic Findings in Patients With Palmoplantar Keratoderma.
Gram SB et al.
Jama Dermatology, 2025
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
A novel heterozygous frameshift mutation in the KRT6A gene responsible for an uncommon phenotype of pachyonychia congenita: One case report and review of literature.
Liang J et al.
Heliyon, 2024
Focal Palmoplantar Keratoderma and Gingival Keratosis Caused by a KRT16 Mutation.
Zaki TD et al.
Cutis, 2022
Genotype‒Structurotype‒Phenotype Correlations in Patients with Pachyonychia Congenita.
Wu TT et al.
The Journal of Investigative Dermatology, 2021
Identification of clinically useful predictive genetic variants in pachyonychia congenita.
Samuelov L et al.
Clinical and Experimental Dermatology, 2021
Molecular epidemiology of pachyonychia congenita in the Israeli population.
Pavlovsky M et al.
Clinical and Experimental Dermatology, 2021
Distinctions in the Management, Patient Impact, and Clinical Profiles of Pachyonychia Congenita Subtypes.
Wu AG et al.
Skin Appendage Disorders, 2021
Pathophysiology of pachyonychia congenita-associated palmoplantar keratoderma: new insights into skin epithelial homeostasis and avenues for treatment.
Zieman AG et al.
The British Journal of Dermatology, 2020
Revisiting pachyonychia congenita: a case-cohort study of 815 patients.
Samuelov L et al.
The British Journal of Dermatology, 2020
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
Altered keratinocyte differentiation is an early driver of keratin mutation-based palmoplantar keratoderma.
Zieman AG et al.
Human Molecular Genetics, 2019
Mutational analysis of epidermal and hyperproliferative type I keratins in mild and moderate psoriasis vulgaris patients: a possible role in the pathogenesis of psoriasis along with disease severity.
Elango T et al.
Human Genomics, 2018
Gene expression profiling in pachyonychia congenita skin.
Cao YA et al.
Journal of Dermatological Science, 2015
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
[Hereditary palmoplantar keratoderma - a focus on clinical and molecular genetic aspects].
Kamaleswaran S et al.
Ugeskrift for Laeger, 2014
A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita.
Eliason MJ et al.
Journal of the American Academy of Dermatology, 2012
Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations.
Fu T 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 de novo missense mutation in the keratin 13 gene in oral white sponge naevus.
Nishizawa A et al.
The British Journal of Dermatology, 2008
The genetic basis of pachyonychia congenita.
Smith FJ et al.
The Journal of Investigative Dermatology. Symposium Proceedings, 2005
Insights into genotype-phenotype correlation in pachyonychia congenita from the human intermediate filament mutation database.
McLean WH et al.
The Journal of Investigative Dermatology. Symposium Proceedings, 2005
Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16.
Connors JB et al.
The British Journal of Dermatology, 2001
Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma.
Smith FJ et al.
Experimental Dermatology, 2000
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
Keratin 17 Mutations in Four Families from India with Pachyonychia Congenita.
Agarwala M et al.
Indian Journal of Dermatology, 0