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
The Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases.
Xiang R et al.
Acta Dermato-venereologica, 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
Variants in the L12 linker domain of KRT10 are causal to atypical epidermolytic ichthyosis.
van der Velden JJAJ et al.
The Journal of Dermatology, 2024
Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis.
Yang Z et al.
Pediatric Investigation, 2023
Interleukin-18 as a severity marker and novel potential therapeutic target for epidermolytic ichthyosis.
Ansai O et al.
Clinical and Experimental Dermatology, 2023
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
Genomic characterization of Chinese ovarian clear cell carcinoma identifies driver genes by whole exome sequencing.
Yang Q et al.
Neoplasia (new York, N.y.), 2020
Mutations in KRT10 in epidermolytic acanthoma.
Cheraghlou S et al.
Journal of Cutaneous Pathology, 2020
Case of Hailey-Hailey disease with a novel missense/in-frame deletion mutation in ATP2C1 successfully treated with cyclosporine.
Ichikawa Y et al.
The Journal of Dermatology, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
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
A Child with Epidermolytic Ichthyosis from a Parent with Epidermolytic Nevus: Risk Evaluation of Transmission from Mosaic to Germline.
Kono M et al.
The Journal of Investigative Dermatology, 2017
Revertant mosaicism in genodermatoses.
Lim YH et al.
Cellular and Molecular Life Sciences : Cmls, 2017
Extensive Post-zygotic Mosaicism of KRT1 or KRT10 Mutation Mimicking Classical Epider-molytic Ichthyosis.
Severino-Freire M et al.
Acta Dermato-venereologica, 2017
Inherited ichthyosis: Non-syndromic forms.
Takeichi T et al.
The Journal of Dermatology, 2016
Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.
Diociaiuti A et al.
Orphanet Journal of Rare Diseases, 2016
Mutations Affecting Keratin 10 Surface-Exposed Residues Highlight the Structural Basis of Phenotypic Variation in Epidermolytic Ichthyosis.
Mirza H et al.
The Journal of Investigative Dermatology, 2015
Genetic disease & gene regulation.
Unknown Author
The Journal of Investigative Dermatology, 2015
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
Generalized and naevoid epidermolytic ichthyosis in Denmark: clinical and mutational findings.
Bygum A et al.
Acta Dermato-venereologica, 2013
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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
A case of epidermolytic hyperkeratosis with no facial involvement associated with mutation in keratin 10.
Ishii N et al.
Clinical and Experimental Dermatology, 2008
Bullous congenital ichthyosiform erythroderma of Brocq.
Kucharekova M et al.
International Journal of Dermatology, 2007
R156C mutation of keratin 10 causes mild form of epidermolytic hyperkeratosis.
Haruna K et al.
The Journal of Dermatology, 2007
Keratin transgenic and knockout mice: functional analysis and validation of disease-causing mutations.
Vijayaraj P et al.
Methods in Molecular Biology (clifton, N.j.), 2007
Epidermolytic hyperkeratosis: a keratin 1 or 10 mutational event.
Lacz NL et al.
International Journal of Dermatology, 2005
A keratin 10 gene mutation (Arg156Cys) in a Japanese patient with bullous congenital ichthyosiform erythroderma.
Saeki H et al.
The Journal of Dermatology, 2002
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
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
Erythrodermia Congenitalis Ichthyosiformis Bullosa of Brocq.
Sander D et al.
Case Reports in Dermatology, 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