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
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
Phenotype and genotype features of Vietnamese children with pachyonychia congenita.
Chu HT et al.
Pediatrics and Neonatology, 2023
Longitudinal association of atopic dermatitis progression and keratin 6A.
Zhu AY et al.
Scientific Reports, 2022
Treatment of Painful Palmoplantar Keratoderma Related to Pachyonychia Congenita Using EGFR Inhibitors.
Greco C et al.
Biomedicines, 2022
Genotype‒Structurotype‒Phenotype Correlations in Patients with Pachyonychia Congenita.
Wu TT et al.
The Journal of Investigative Dermatology, 2021
A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report.
Li Y et al.
Bmc Medical Genomics, 2021
Keratin 6a mutations lead to impaired mitochondrial quality control.
Lehmann SM et al.
The British Journal of Dermatology, 2020
Symptomatic mucosal involvement in pachyonychia congenita: challenges in infants and young children.
Goldberg I 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
Oxidative stress and dysfunctional NRF2 underlie pachyonychia congenita phenotypes.
Kerns ML et al.
The Journal of Clinical Investigation, 2016
Correction of Hair Shaft Defects through Allele-Specific Silencing of Mutant Krt75.
Liu Y et al.
The Journal of Investigative Dermatology, 2016
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
A large mutational study in pachyonychia congenita.
Wilson NJ et al.
The Journal of Investigative Dermatology, 2011
The phenotypic and molecular genetic features of pachyonychia congenita.
McLean WH et al.
The Journal of Investigative Dermatology, 2011
Keratin gene mutations in disorders of human skin and its appendages.
Chamcheu JC et al.
Archives of Biochemistry and Biophysics, 2011
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
Mice expressing a mutant Krt75 (K6hf) allele develop hair and nail defects resembling pachyonychia congenita.
Chen J et al.
The Journal of Investigative Dermatology, 2008
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
SiRNA-mediated selective inhibition of mutant keratin mRNAs responsible for the skin disorder pachyonychia congenita.
Hickerson RP et al.
Annals of the New York Academy of Sciences, 2006
Clinical and pathological features of pachyonychia congenita.
Leachman SA et al.
The Journal of Investigative Dermatology. Symposium Proceedings, 2005
Identification of a recurrent mutation in keratin 6a in a patient with overlapping clinical features of pachyonychia congenita types 1 and 2.
Ward KM et al.
Clinical and Experimental 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