Associated Papers
Oral Statin Therapy in KRT16- and KRT17-Associated Palmoplantar Epidermal Differentiation Disorder (Pachyonychia Congenita).
Itamoto S et al.
The Journal of Dermatology, 2025
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
Treatment of Painful Palmoplantar Keratoderma Related to Pachyonychia Congenita Using EGFR Inhibitors.
Greco C et al.
Biomedicines, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 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
A KRT6A and a Novel KRT16 Gene Mutations in Chinese Patients with Pachyonychia Congenita.
Gong L et al.
International Journal of General Medicine, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 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
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Enamel Anomalies in a Pachyonychia Congenita Patient with a Mutation in KRT16.
Duverger O et al.
The Journal of Investigative Dermatology, 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
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
A large mutational study in pachyonychia congenita.
Wilson NJ et al.
The Journal of Investigative Dermatology, 2011
A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita.
Liao H et al.
Journal of Dermatological Science, 2007
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