Associated Papers
Exploring TH17-mediated inflammation in epidermolytic ichthyosis: Clinical and mechanistic insight.
Tan Y et al.
Clinical Immunology (orlando, Fla.), 2025
Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.
Wertheim-Tysarowska K et al.
Orphanet Journal of Rare Diseases, 2024
De Novo Mutation in KRT1 Leads to Epidermolytic Palmoplantar Keratoderma: from Chinese Traditional Treatment to Prenatal Diagnosis Using Whole-Exome Sequencing-Plus.
Ge M et al.
Dna and Cell Biology, 2023
Interleukin-18 as a severity marker and novel potential therapeutic target for epidermolytic ichthyosis.
Ansai O et al.
Clinical and Experimental Dermatology, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Novel missense mutation c.539A>G; p.Glu180Gly in keratin 1 causing epidermolytic ichthyosis.
Sashikawa M et al.
The Journal of Dermatology, 2021
Visualization of Keratin with Diffuse Reflectance and Autofluorescence Imaging and Nonlinear Optical Microscopy in a Rare Keratinopathic Ichthyosis.
Anker P et al.
Sensors (basel, Switzerland), 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Peeling of skin as presenting manifestation in congenital disorders of glycosylation.
Almutairi M et al.
The Journal of Dermatology, 2020
Mild epidermolytic ichthyosis with palmoplantar keratoderma due to the KRT1 mutation p.lle479Thr.
Murase Y et al.
The Journal of Dermatology, 2020
Annular epidermolytic ichthyosis with palmoplantar keratosis: a unique phenotype associated with interfamilial phenotypic heterogeneity.
Liang B et al.
European Journal of Dermatology : Ejd, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
A p.478I>T KRT1 mutation in a case of annular epidermolytic ichthyosis.
Zaki TD et al.
Pediatric Dermatology, 2018
The X-Ray Crystal Structure of the Keratin 1-Keratin 10 Helix 2B Heterodimer Reveals Molecular Surface Properties and Biochemical Insights into Human Skin Disease.
Bunick CG et al.
The Journal of Investigative Dermatology, 2017
Cutaneous mosaicism, in KRT1 pI479T patient, caused by the somatic loss of the wild-type allele, leads to the increase in local severity of the disease.
Palombo R et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2016
Infantile epidermolytic ichthyosis with prominent maternal palmoplantar keratoderma.
Austin Smith W et al.
Dermatology Online Journal, 2016
Inherited ichthyosis: Non-syndromic forms.
Takeichi T et al.
The Journal of Dermatology, 2016
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
A recurrent missense mutation of keratin 1 gene in a Chinese family with epidermolytic hyperkeratosis (severe palmoplantar hyperkeratosis, type 1).
Zeng YP et al.
International 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
Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis.
Arin MJ et al.
The British Journal of Dermatology, 2011
New KRT10 gene mutation underlying the annular variant of bullous congenital ichthyosiform erythroderma with clinical worsening during pregnancy.
Sheth N et al.
The British Journal of Dermatology, 2007
Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene.
Terron-Kwiatkowski A et al.
The British Journal of Dermatology, 2004
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
Epidermolytic hyperkeratosis with polycyclic psoriasiform plaques resulting from a mutation in the keratin 1 gene.
Michael EJ et al.
Experimental Dermatology, 1999
A Case of Annular Epidermolytic Ichthyosis Resulting from a de Novo Mutation, p.I479T, in Keratin 1 Gene.
Chen L et al.
Indian Journal of Dermatology, 0
Two cases of KRT1 mutation-associated epidermolytic ichthyosis without typical epidermolytic hyperkeratosis in the neonatal skin lesions.
Kim T et al.
Pediatric Dermatology, 0