Associated Papers
Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.
Wertheim-Tysarowska K et al.
Orphanet Journal of Rare Diseases, 2024
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
Mutant Proteomics of Lung Adenocarcinomas Harboring Different EGFR Mutations.
Nishimura T et al.
Frontiers in Oncology, 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
Oxidative stress and dysfunctional NRF2 underlie pachyonychia congenita phenotypes.
Kerns ML et al.
The Journal of Clinical Investigation, 2016
The molecular genetic analysis of the expanding pachyonychia congenita case collection.
Wilson NJ et al.
The British Journal of Dermatology, 2014
Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations.
Fu T et al.
The Journal of Investigative Dermatology, 2011
Development of quantitative molecular clinical end points for siRNA clinical trials.
Hickerson RP et al.
The Journal of Investigative Dermatology, 2011
Rapamycin selectively inhibits expression of an inducible keratin (K6a) in human keratinocytes and improves symptoms in pachyonychia congenita patients.
Hickerson RP et al.
Journal of Dermatological Science, 2009
A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita.
Liao H et al.
Journal of Dermatological Science, 2007
Clinical and pathological features of pachyonychia congenita.
Leachman SA et al.
The Journal of Investigative Dermatology. Symposium Proceedings, 2005
The genetic basis of pachyonychia congenita.
Smith FJ et al.
The Journal of Investigative Dermatology. Symposium Proceedings, 2005