Associated Papers
Autosomal recessive plantar keratoderma with ragged periungual hyperkeratosis caused by a homozygous missense variant in KRT16.
Nanda A et al.
The British Journal of Dermatology, 2024
KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies.
Koprulu M et al.
European Journal of Human Genetics : Ejhg, 2022
Genotype‒Structurotype‒Phenotype Correlations in Patients with Pachyonychia Congenita.
Wu TT et al.
The Journal of Investigative Dermatology, 2021
Conservation and Identity Selection of Cationic Residues Flanking the Hydrophobic Regions in Intermediate Filament Superfamily.
Zhang W et al.
Frontiers in Chemistry, 2021
Mutational analysis of epidermal and hyperproliferative type I keratins in mild and moderate psoriasis vulgaris patients: a possible role in the pathogenesis of psoriasis along with disease severity.
Elango T et al.
Human Genomics, 2018
Steatocystoma multiplex is associated with the R94C mutation in the KRTl7 gene.
Liu Q et al.
Molecular Medicine Reports, 2015
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
Novel missense mutation of keratin in Chinese family with steatocystoma multiplex.
Wang JF et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
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
In vivo alteration of the keratin 17 gene in hair follicles by oligonucleotide-directed gene targeting.
Fan W et al.
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
Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.
Covello SP et al.
The British Journal of Dermatology, 1998
Pachyonychia congenita type 2: keratin 17 mutation in a Japanese case.
Fujimoto W et al.
Journal of the American Academy of Dermatology, 1998
Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex.
Smith FJ et al.
The Journal of Investigative Dermatology, 1997
Steatocystoma multiplex and oligosymptomatic pachyonychia congenita of the Jackson-Sertoli type.
Hohl D
Dermatology (basel, Switzerland), 1997
Human keratin diseases: hereditary fragility of specific epithelial tissues.
Corden LD et al.
Experimental Dermatology, 1996