Associated Papers
KRT6A Variant Underlies Pachyonychia Congenita: Insights Into Protein Aggregation and PPAR Signaling.
Ren Y et al.
American Journal of Medical Genetics. Part A, 2026
Genotype‒Structurotype‒Phenotype Correlations in Patients with Pachyonychia Congenita.
Wu TT et al.
The Journal of Investigative Dermatology, 2021
Pachyonychia Congenita: A Spectrum of KRT6a Mutations in Australian Patients.
Forrest CE et al.
Pediatric Dermatology, 2016
The molecular genetic analysis of the expanding pachyonychia congenita case collection.
Wilson NJ et al.
The British Journal of Dermatology, 2014
Transgrediens pachyonychia congenita (PC): case series of a nonclassical PC presentation.
Harris K et al.
The British Journal of Dermatology, 2012
Novel and recurrent keratin 6A (KRT6A) mutations in Chinese patients with pachyonychia congenita type 1.
Lv YM et al.
The British Journal of Dermatology, 2009
A novel missense mutation L468Q of keratin 6a in pachyonychia congenita type 1.
Zhou HL et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2007
Clinical and pathological features of pachyonychia congenita.
Leachman SA et al.
The Journal of Investigative Dermatology. Symposium Proceedings, 2005
Gene therapy for autosomal dominant disorders of keratin.
Lewin AS et al.
The Journal of Investigative Dermatology. Symposium Proceedings, 2005
Splice site and deletion mutations in keratin (KRT1 and KRT10) genes: unusual phenotypic alterations in Scandinavian patients with epidermolytic hyperkeratosis.
Virtanen M et al.
The Journal of Investigative Dermatology, 2003
Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.
Terrinoni A et al.
The Journal of Investigative Dermatology, 2001
A mutation detection strategy for the human keratin 6A gene and novel missense mutations in two cases of pachyonychia congenita type 1.
Smith FJ et al.
Experimental Dermatology, 1999