Associated Papers
A recurrent missense mutation in the KRT16 gene causing pachyonychia congenita in a patient.
Cheng JR et al.
International Journal of Dermatology, 2024
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Identification of clinically useful predictive genetic variants in pachyonychia congenita.
Samuelov L et al.
Clinical and Experimental Dermatology, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
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
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
The molecular genetic analysis of the expanding pachyonychia congenita case collection.
Wilson NJ et al.
The British Journal of Dermatology, 2014
Mutation p.Leu128Pro in the 1A domain of K16 causes pachyonychia congenita with focal palmoplantar keratoderma in a Chinese family.
Dai L et al.
European Journal of Pediatrics, 2014
A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita.
Eliason MJ et al.
Journal of the American Academy of Dermatology, 2012
A large mutational study in pachyonychia congenita.
Wilson NJ et al.
The Journal of Investigative Dermatology, 2011
The phenotypic and molecular genetic features of pachyonychia congenita.
McLean WH et al.
The Journal of Investigative Dermatology, 2011
Increased pachyonychia congenita severity in patients with concurrent keratin and filaggrin mutations.
Gruber R et al.
The British Journal of Dermatology, 2009
Clinical and pathological features of pachyonychia congenita.
Leachman SA et al.
The Journal of Investigative Dermatology. Symposium Proceedings, 2005
The genetic basis of pachyonychia congenita.
Smith FJ et al.
The Journal of Investigative Dermatology. Symposium Proceedings, 2005
Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1.
Smith FJ et al.
The British Journal of Dermatology, 1999
Hereditary Palmoplantar Keratoderma: A Practical Approach to the Diagnosis.
Dev T et al.
Indian Dermatology Online Journal, 0