Associated Papers
The variant c.274A>G (p.Asn92Asp) in KRT17 in a patient with pachyonychia congenita and a novel clinical feature of acne inversa.
Wang H et al.
Frontiers in Genetics, 2024
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
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
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt
The phenotypic and molecular genetic features of pachyonychia congenita.
McLean WH et al.
The Journal of Investigative Dermatology, 2011
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
Human keratin diseases: hereditary fragility of specific epithelial tissues.
Corden LD et al.
Experimental Dermatology, 1996
Keratin 16 and keratin 17 mutations cause pachyonychia congenita.
McLean WH et al.
Nature Genetics, 1995
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