Associated Papers
Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection.
Liu J et al.
Biomedicines, 2025
Exploring TH17-mediated inflammation in epidermolytic ichthyosis: Clinical and mechanistic insight.
Tan Y et al.
Clinical Immunology (orlando, Fla.), 2025
Neonatal Epidermolytic Ichthyosis Caused by a KRT10 Mutation (c.467G>A, p.Arg156His): A Case Report.
Smits E et al.
Clinical Case Reports, 2025
The Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases.
Xiang R et al.
Acta Dermato-venereologica, 2025
Successful treatment of generalized inflammatory linear verrucous epidermal naevus with a somatic mutation in KRT10 with crisaborole 2% ointment.
Li Z et al.
Clinical and Experimental Dermatology, 2025
Epidermolytic ichthyosis: Clinical spectrum and burden of disease in a large German cohort.
Frommherz L et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 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
Somatic Variants of KRT1/KRT10 Identified by Next-generation Sequencing in Patients with Epidermal Nevi.
Sun S et al.
Acta Dermato-venereologica, 2024
Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center.
Akgun-Dogan O et al.
Frontiers in Genetics, 2024
Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis.
Yang Z et al.
Pediatric Investigation, 2023
Inflammatory linear verrucous epidermal nevus (ILVEN) encompasses a spectrum of inflammatory mosaic disorders.
Atzmony L et al.
Pediatric Dermatology, 2022
Conservation and Identity Selection of Cationic Residues Flanking the Hydrophobic Regions in Intermediate Filament Superfamily.
Zhang W et al.
Frontiers in Chemistry, 2021
First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses.
Diociaiuti A et al.
International Journal of Molecular Sciences, 2020
Mutations in KRT10 in epidermolytic acanthoma.
Cheraghlou S et al.
Journal of Cutaneous Pathology, 2020
Next-generation sequencing through multi-gene panel testing for diagnosis of hereditary ichthyosis in Chinese.
Cheng R et al.
Clinical Genetics, 2020
Annular epidermolytic ichthyosis: An exceptional mild subtype of epidermolytic ichthyosis without genotype and phenotype correlation.
Reolid A et al.
Jaad Case Reports, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Inherited ichthyoses: molecular causes of the disease in Czech patients.
Borská R et al.
Orphanet Journal of Rare Diseases, 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
Multiscale modeling of keratin, collagen, elastin and related human diseases: Perspectives from atomistic to coarse-grained molecular dynamics simulations.
Yeo J et al.
Extreme Mechanics Letters, 2018
Extensive Post-zygotic Mosaicism of KRT1 or KRT10 Mutation Mimicking Classical Epider-molytic Ichthyosis.
Severino-Freire M et al.
Acta Dermato-venereologica, 2017
Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.
Hotz A et al.
Acta Dermato-venereologica, 2016
Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.
Diociaiuti A et al.
Orphanet Journal of Rare Diseases, 2016
Nonsynonymous Single-Nucleotide Variations on Some Posttranslational Modifications of Human Proteins and the Association with Diseases.
Sun B et al.
Computational and Mathematical Methods in Medicine, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Mutation p.R156H of KRT10 responsible for severe phenotype of epidermolytic ichthyosis in a Chinese family.
Li Z et al.
Therapeutics and Clinical Risk Management, 2014
[Mutation analysis of KRT10 gene in a patient with bullous congenital ichthyosiform erythroderma].
Zhang SD et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 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
Induction of p38, tumour necrosis factor-α and RANTES by mechanical stretching of keratinocytes expressing mutant keratin 10R156H.
Obarzanek-Fojt M et al.
The British Journal of Dermatology, 2011
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
R156C mutation of keratin 10 causes mild form of epidermolytic hyperkeratosis.
Haruna K et al.
The Journal of Dermatology, 2007
Epidermolytic hyperkeratosis: a keratin 1 or 10 mutational event.
Lacz NL et al.
International Journal of Dermatology, 2005
A novel mutation of keratin 9 in a large Chinese family with epidermolytic palmoplantar keratoderma.
He XH et al.
The British Journal of Dermatology, 2004
Keratin 1 and keratin 10 mutations causing epidermolytic hyperkeratosis in Chinese patients.
Sun XK et al.
Journal of Dermatological Science, 2002
Molecular advances in genetic skin diseases.
Siegel DH et al.
Current Opinion in Pediatrics, 2002
Recurrent R156H mutation of KRT10 in a Japanese family with bullous congenital ichthyosiform erythroderma.
Mayuzumi N et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2000
Novel and recurrent mutations in keratin 10 causing bullous congenital ichthyosiform erythroderma.
McLean WH et al.
Experimental Dermatology, 1999
Arginine in the beginning of the 1A rod domain of the keratin 10 gene is the hot spot for the mutation in epidermolytic hyperkeratosis.
Yang JM et al.
Journal of Dermatological Science, 1999
A keratin K10 gene mutation in a Japanese patient with epidermolytic hyperkeratosis.
Nomura K et al.
The Japanese Journal of Human Genetics, 1997
Human keratin diseases: hereditary fragility of specific epithelial tissues.
Corden LD et al.
Experimental Dermatology, 1996
Intermediate filaments in disease.
McLean WH et al.
Current Opinion in Cell Biology, 1995
Localized linear epidermolytic epidermal nevus of male genitalia with a recurrent keratin 10 mutation, p.Arg156His.
Uchiyama K et al.
European Journal of Dermatology : Ejd, 0
Multiple roles for keratin intermediate filaments in the regulation of epithelial barrier function and apico-basal polarity.
Salas PJ et al.
Tissue Barriers, 0
Genotype-phenotype spectrum and correlations in Chinese patients with keratinocytic epidermal naevus: A retrospective study of 22 cases.
Li Z et al.
Indian Journal of Dermatology, Venereology and Leprology, 0