Associated Papers
Proteomics reveals altered lipid biosynthesis and keratin hyperphosphorylation in pachyonychia congenita.
Ceccacci S et al.
The Journal of Investigative Dermatology, 2026
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
Preclinical validation of PKC412 as a therapy candidate for epidermolysis bullosa simplex across multiple keratin pathogenic variants.
Jopp H et al.
The British Journal of Dermatology, 2025
HMCN1 variants aggravate epidermolysis bullosa simplex phenotype.
Bergson S et al.
The Journal of Experimental Medicine, 2025
Descriptive Study of the Clinical and Molecular Features of Epidermolysis Bullosa Patients in a Romanian European Reference Network-Skin Affiliated Reference Center.
Suru A et al.
Cureus, 2024
EBS in Children with De Novo Pathogenic Variants Disturbing Krt14.
Kosykh AV et al.
International Journal of Molecular Sciences, 2024
Posttranslational modifications of keratins and their associated proteins as therapeutic targets in keratin diseases.
Li P et al.
Current Opinion in Cell Biology, 2023
Phenotype and genotype correlation of inherited epidermolysis bullosa in Indonesia.
Arline Diana I et al.
The Australasian Journal of Dermatology, 2023
Painting and dissecting Epidermolysis Bullosa Simplex-associated keratin aggregates.
Rietscher K et al.
Journal of Dermatological Science, 2023
Deacetylation via SIRT2 prevents keratin-mutation-associated injury and keratin aggregation.
Sun J et al.
Jci Insight, 2023
A novel KRT14 null mutation leads to autosomal recessive epidermolysis bullosa simplex.
Banner L et al.
Clinical and Experimental Dermatology, 2023
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
PP2 protects from keratin mutation-associated liver injury and filament disruption via SRC kinase inhibition in male but not female mice.
Li P et al.
Hepatology (baltimore, Md.), 2023
Kinase Inhibition by PKC412 Prevents Epithelial Sheet Damage in Autosomal Dominant Epidermolysis Bullosa Simplex through Keratin and Cell Contact Stabilization.
Rietscher K et al.
The Journal of Investigative Dermatology, 2022
Targeted NGS in Diagnostics of Genodermatosis Characterized by the Epidermolysis Bullosa Symptom Complex in 268 Russian Children.
Savostyanov K et al.
International Journal of Molecular Sciences, 2022
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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Detrimental Effects of IFN-γ on an Epidermolysis Bullosa Simplex Cell Model and Protection by a Humanized Anti-IFN-γ Monoclonal Antibody.
Badowski C et al.
Jid Innovations : Skin Science From Molecules to Population Health, 2022
Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex.
Evtushenko NA et al.
International Journal of Molecular Sciences, 2021
Keratin 8 mutations in transgenic mice predispose to lung injury.
Kim S et al.
Journal of Cell Science, 2021
Epidermolysis Bullosa in Chinese Patients: Genetic Analysis and Mutation Landscape in 57 Pedigrees and Sporadic Cases.
Yu Y et al.
Acta Dermato-venereologica, 2021
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
Next-generation sequencing through multigene panel testing for the diagnosis of hereditary epidermolysis bullosa in Chinese population.
Chen F et al.
Clinical Genetics, 2020
Epidermolysis Bullosa Simplex Keratinocytes Show Disturbed Mitochondrial Positioning and Activity.
Vetter A et al.
The Journal of Investigative Dermatology, 2020
Epidermolysis bullosa with congenital absence of skin: Clinical and genetic characterization of a 23-case series.
Mariath LM et al.
Clinical Genetics, 2020
Genotype-phenotype analysis of LMNA-related diseases predicts phenotype-selective alterations in lamin phosphorylation.
Lin EW et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020
Laryngeal stenosis associated with epidermolysis bullosa simplex.
Devergne C et al.
Jaad Case Reports, 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
Hoarse cry in a newborn with epidermolysis bullosa simplex, generalized severe.
Diociaiuti A et al.
Pediatric Dermatology, 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
Treatment of keratinocytes with 4-phenylbutyrate in epidermolysis bullosa: Lessons for therapies in keratin disorders.
Spörrer M et al.
Ebiomedicine, 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
Clinical subtypes and molecular basis of epidermolysis bullosa in Kuwait.
Nanda A et al.
International Journal of Dermatology, 2018
A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa.
Unknown Author
Pediatric Dermatology, 2018
The Position of Targeted Next-generation Sequencing in Epidermolysis Bullosa Diagnosis.
Has C et al.
Acta Dermato-venereologica, 2018
Threonine 150 Phosphorylation of Keratin 5 Is Linked to Epidermolysis Bullosa Simplex and Regulates Filament Assembly and Cell Viability.
Sawant M et al.
The Journal of Investigative Dermatology, 2018
A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa.
Lucky AW et al.
Pediatric Dermatology, 2018
High-efficiency RNA-based reprogramming of human primary fibroblasts.
Kogut I et al.
Nature Communications, 2018
Keratins and epidermolysis bullosa simplex.
Khani P et al.
Journal of Cellular Physiology, 2018
Updated review of genetic reticulate pigmentary disorders.
Zhang J et al.
The British Journal of Dermatology, 2017