Associated Papers
A case of pachyonychia congenita with a hotspot variant at Arg127 in KRT16: Disease severity assessment using AlphaMissense technology.
Noda T et al.
The Journal of Dermatology, 2024
Focal Palmoplantar Keratoderma and Gingival Keratosis Caused by a KRT16 Mutation.
Zaki TD et al.
Cutis, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _B__Y2H-SI_disMut_edgotypes
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
36303776 (PubMed )
Supplement: Table2.XLSX › _B__Y2H-SI_pathMt_edgotype
A KRT16 mutation in the first Chinese pedigree with Pachyonychia congenita and review of the literatures.
Xu Q et al.
Journal of Cosmetic Dermatology, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut
Altered keratinocyte differentiation is an early driver of keratin mutation-based palmoplantar keratoderma.
Zieman AG et al.
Human Molecular Genetics, 2019
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
Gene expression profiling in pachyonychia congenita skin.
Cao YA et al.
Journal of Dermatological Science, 2015
The molecular genetic analysis of the expanding pachyonychia congenita case collection.
Wilson NJ et al.
The British Journal of Dermatology, 2014
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