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
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
Genotype‒Structurotype‒Phenotype Correlations in Patients with Pachyonychia Congenita.
Wu TT et al.
The Journal of Investigative Dermatology, 2021
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9B
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
Keratin gene mutations in disorders of human skin and its appendages.
Chamcheu JC et al.
Archives of Biochemistry and Biophysics, 2011
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
The genetic basis of pachyonychia congenita.
Smith FJ et al.
The Journal of Investigative Dermatology. Symposium Proceedings, 2005
A severe case of pachyonychia congenita type I due to a novel proline mutation in keratin 6a.
García-Rio I et al.
The British Journal of Dermatology, 2005
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
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