Associated Papers
Management of Refractory Infections in a Neonate With Severe Generalized Epidermolysis Bullosa Simplex: A Case Report.
Maekawa M et al.
Cureus, 2025
Genetic profiling of epidermolysis bullosa in a large Brazilian cohort.
Ota VK et al.
Clinical and Experimental Dermatology, 2025
Molecular profiling of a cohort with epidermolysis bullosa in India: a single centre experience.
Kumar A et al.
Clinical and Experimental Dermatology, 2025
Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next-generation sequencing.
Baardman R et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2025
AlPaCas: allele-specific CRISPR gene editing through a protospacer-adjacent-motif (PAM) approach.
Rosignoli S et al.
Nucleic Acids Research, 2024
EBS in Children with De Novo Pathogenic Variants Disturbing Krt14.
Kosykh AV et al.
International Journal of Molecular Sciences, 2024
Molecular genetic basis of epidermolysis bullosa.
Kotalevskaya YY et al.
Vavilovskii Zhurnal Genetiki I Selektsii, 2023
Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China.
Chen F et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023
Whole exome sequencing in a sample of Peruvian patients diagnosed with epidermolysis bullosa.
Zevallos-Morales A et al.
Dermatology Online Journal, 2022
Detection and characterization of low-level mosaicism among clinically unaffected parents of 'sporadic' epidermolysis bullosa simplex cases.
Chen F et al.
The British Journal of Dermatology, 2022
Epidermolysis Bullosa-A Different Genetic Approach in Correlation with Genetic Heterogeneity.
Pânzaru MC et al.
Diagnostics (basel, Switzerland), 2022
A mathematical model for the dependence of keratin aggregate formation on the quantity of mutant keratin expressed in EGFP-K14 R125P keratinocytes.
Gouveia M et al.
Plos One, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Next-generation sequencing through multigene panel testing for the diagnosis of hereditary epidermolysis bullosa in Chinese population.
Chen F et al.
Clinical Genetics, 2020
Keratin Dynamics and Spatial Distribution in Wild-Type and K14 R125P Mutant Cells-A Computational Model.
Gouveia M et al.
International Journal of Molecular Sciences, 2020
Known and novel mutations responsible for epidermolysis bullosa simplex cases in a Chinese population.
Zhang J et al.
Experimental and Therapeutic Medicine, 2019
An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease-causing variants.
Mariath LM et al.
Clinical Genetics, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
An ex vivo RNA trans-splicing strategy to correct human generalized severe epidermolysis bullosa simplex.
Peking P et al.
The British Journal of Dermatology, 2019
Performance comparison of two whole genome amplification techniques in frame of multifactor preimplantation genetic testing.
Volozonoka L et al.
Journal of Assisted Reproduction and Genetics, 2018
The Position of Targeted Next-generation Sequencing in Epidermolysis Bullosa Diagnosis.
Has C et al.
Acta Dermato-venereologica, 2018
Desmoplakin interacts with the coil 1 of different types of intermediate filament proteins and displays high affinity for assembled intermediate filaments.
Favre B et al.
Plos One, 2018
A novel KRT5 mutation associated with generalized severe epidermolysis bullosa simplex in a 2-year-old Chinese boy.
Zhang J et al.
Experimental and Therapeutic Medicine, 2016
Ten years of DNA diagnostics of epidermolysis bullosa in the Czech Republic.
Kopečková L et al.
The British Journal of Dermatology, 2016
Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation.
Wertheim-Tysarowska K et al.
Journal of Applied Genetics, 2016
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
Assays to Study Consequences of Cytoplasmic Intermediate Filament Mutations: The Case of Epidermal Keratins.
Tan TS et al.
Methods in Enzymology, 2016
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Mutational analysis on 16 Japanese population cases with epidermolysis bullosa simplex.
Minakawa S et al.
Journal of Dermatological Science, 2013
MMP-9 and CXCL8/IL-8 are potential therapeutic targets in epidermolysis bullosa simplex.
Lettner T et al.
Plos One, 2013
Unique amino acid signatures that are evolutionarily conserved distinguish simple-type, epidermal and hair keratins.
Strnad P et al.
Journal of Cell Science, 2011
Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients.
Bolling MC et al.
The British Journal of Dermatology, 2011
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure.
Jerábková B et al.
The British Journal of Dermatology, 2010
The ubiquitin ligase CHIP/STUB1 targets mutant keratins for degradation.
Löffek S et al.
Human Mutation, 2010
Novel and recurrent mutations in Keratin 5 and 14 in Korean patients with Epidermolysis bullosa simplex.
Kang TW et al.
Journal of Dermatological Science, 2010
Novel keratin 14 hotspot mutation in Dowling-Meara type of epidermolysis bullosa simplex: strategy to avoid KRT14 pseudogene amplification by a simple approach.
Ołdak M et al.
Journal of Dermatological Science, 2010
Cytokines as genetic modifiers in K5-/- mice and in human epidermolysis bullosa simplex.
Roth W et al.
Human Mutation, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Diagnostic pitfalls in newborns and babies with blisters and erosions.
Nischler E et al.
Dermatology Research and Practice, 2009
Dyskeratosis as a histologic feature in epidermolysis bullosa simplex-Dowling Meara.
Bergman R et al.
Journal of the American Academy of Dermatology, 2007
A mutation of keratin 18 within the coil 1A consensus motif causes widespread keratin aggregation but cell type-restricted lethality in mice.
Hesse M et al.
Experimental Cell Research, 2007
Basic science of epidermolysis bullosa and diagnostic and molecular characterization: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005.
Pfendner EG et al.
International Journal of Dermatology, 2007
A mutation in exon 1 of keratin 14 resulting in a Chinese family with epidermolysis bullosa simplex Dowling-Meara.
Li XL et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2007
Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations.
Rugg EL et al.
The Journal of Investigative Dermatology, 2007