Associated Papers
Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex.
Evtushenko NA et al.
International Journal of Molecular Sciences, 2021
Digenic inheritance of KRT5 and KRT14 mutations in a family with epidermolysis bullosa simplex.
Yu Y et al.
The Australasian Journal of Dermatology, 2020
Epidermolysis bullosa: diagnostic guidelines in the laboratory setting.
Uitto J
The British Journal of Dermatology, 2020
Context-Dependent Strategies for Enhanced Genome Editing of Genodermatoses.
March OP et al.
Cells, 2020
Induced pluripotent stem cell (iPSC) line from an epidermolysis bullosa simplex patient heterozygous for keratin 5 E475G mutation and with the Dowling Meara phenotype.
Kolundzic N et al.
Stem Cell Research, 2019
Traceless Targeting and Isolation of Gene-Edited Immortalized Keratinocytes from Epidermolysis Bullosa Simplex Patients.
Aushev M et al.
Molecular Therapy. Methods & Clinical Development, 2017
Keratin gene mutations influence the keratinocyte response to DNA damage and cytokine induced apoptosis.
Zupancic T et al.
Archives of Dermatological Research, 2017
The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex.
Sathishkumar D et al.
The Journal of Investigative Dermatology, 2016
A Sporadic Neonatal Case of Epidermolysis Bullosa Simplex Generalized Intermediate with KRT5 and KRT14 Gene Mutations.
Wakiguchi H et al.
Ajp Reports, 2016
Gene expression analysis of an epidermolysis bullosa simplex Dowling-Meara cell line by subtractive hybridization: recapitulation of cellular differentiation, migration and wound healing.
Wagner M et al.
Experimental Dermatology, 2012
Epidermolysis bullosa simplex due to KRT5 mutations: mutation-related differences in cellular fragility and the protective effects of trimethylamine N-oxide in cultured primary keratinocytes.
Chamcheu JC et al.
The British Journal of Dermatology, 2010
Severe keratin 5 and 14 mutations induce down-regulation of junction proteins in keratinocytes.
Liovic M et al.
Experimental Cell Research, 2009
Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations.
Schuilenga-Hut PH et al.
Human Mutation, 2003
Expression of a truncated keratin 5 may contribute to severe palmar--plantar hyperkeratosis in epidermolysis bullosa simplex patients.
Livingston RJ et al.
The Journal of Investigative Dermatology, 2001
Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential.
Shemanko CS et al.
The British Journal of Dermatology, 2000
Human keratin diseases: hereditary fragility of specific epithelial tissues.
Corden LD et al.
Experimental Dermatology, 1996
A novel keratin K5 gene mutation in Dowling-Meara epidermolysis bullosa simplex.
Nomura K et al.
The Journal of Investigative Dermatology, 1996
Temperature sensitivity of the keratin cytoskeleton and delayed spreading of keratinocyte lines derived from EBS patients.
Morley SM et al.
Journal of Cell Science, 1995