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 scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Phenotype and genotype features of Vietnamese children with pachyonychia congenita.
Chu HT et al.
Pediatrics and Neonatology, 2023
Genotype‒Structurotype‒Phenotype Correlations in Patients with Pachyonychia Congenita.
Wu TT et al.
The Journal of Investigative Dermatology, 2021
Molecular epidemiology of pachyonychia congenita in the Israeli population.
Pavlovsky M et al.
Clinical and Experimental Dermatology, 2021
Challenges in Treating Genodermatoses: New Therapies at the Horizon.
Morren MA et al.
Frontiers in Pharmacology, 2021
Keratin 6a mutations lead to impaired mitochondrial quality control.
Lehmann SM et al.
The British Journal of Dermatology, 2020
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
Symptomatic mucosal involvement in pachyonychia congenita: challenges in infants and young children.
Goldberg I et al.
The British Journal of Dermatology, 2020
Altered keratinocyte differentiation is an early driver of keratin mutation-based palmoplantar keratoderma.
Zieman AG et al.
Human Molecular Genetics, 2019
Enamel Anomalies in a Pachyonychia Congenita Patient with a Mutation in KRT16.
Duverger O et al.
The Journal of Investigative Dermatology, 2019
Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay.
Duverger O et al.
Plos Genetics, 2018
Allele-specific silencing of mutant p53 attenuates dominant-negative and gain-of-function activities.
Iyer SV et al.
Oncotarget, 2016
Correction of Hair Shaft Defects through Allele-Specific Silencing of Mutant Krt75.
Liu Y et al.
The Journal of Investigative Dermatology, 2016
Gene expression profiling in pachyonychia congenita skin.
Cao YA et al.
Journal of Dermatological Science, 2015
Novel molecular therapies for heritable skin disorders.
Uitto J et al.
The Journal of Investigative Dermatology, 2012
Development of skin-humanized mouse models of pachyonychia congenita.
García M 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
A large mutational study in pachyonychia congenita.
Wilson NJ et al.
The Journal of Investigative Dermatology, 2011
First-in-human mutation-targeted siRNA phase Ib trial of an inherited skin disorder.
Leachman SA et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2010
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
Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita.
Leachman SA et al.
Journal of Dermatological Science, 2008
Mutations of KRT6A are more frequent than those of KRT16 in pachyonychia congenita type 1: report of a novel and a recently reported mutation in two unrelated Chinese families.
Bai ZL et al.
The British Journal of Dermatology, 2008
Single-nucleotide-specific siRNA targeting in a dominant-negative skin model.
Hickerson RP 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
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