Associated Papers
First successful treatment of epidermolytic Ichthyosis with Vunakizumab: A Case Report.
Cheng W et al.
Frontiers in Immunology, 2025
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis.
Caroppo F et al.
Clinical Case Reports, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma.
Smith FJD et al.
Clinical and Experimental Dermatology, 2019
Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.
Hotz A et al.
Acta Dermato-venereologica, 2016
A KRT1 gene mutation related to epidermolytic ichthyosis in a Chinese family.
Ji YZ et al.
Clinical and Experimental Dermatology, 2015
Mild phenotype of epidermolytic hyperkeratosis mimicking ichthyosis bullosa of Siemens is related to specific mutation in 2B domain of KRT1.
Sung JY et al.
Journal of Dermatological Science, 2013
Building models for keratin disorders.
Koster MI
The Journal of Investigative Dermatology, 2012
Keratin gene mutations in disorders of human skin and its appendages.
Chamcheu JC et al.
Archives of Biochemistry and Biophysics, 2011
Congenital ichthyosiform erythroderma mimicking ichthyosis bullosa of Siemens.
Tsubota A et al.
The British Journal of Dermatology, 2008
A case of bullous congenital ichthyosiform erythroderma (BCIE) caused by a mutation in the 1A helix initiation motif of keratin 1.
Uezato H et al.
The Journal of Dermatology, 2005
Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1.
Terron-Kwiatkowski A et al.
The Journal of Investigative Dermatology, 2002
New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens.
Whittock NV et al.
The British Journal of Dermatology, 2001