ArticleJournal of medical genetics2006
Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.
Article in Journal of medical genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 1 of them a synthesis that pooled it.
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Who cites it
50 citing papers in PubMed, 1 synthesis or guideline pooled it, 164 citations in OpenAlex.
- Gene expression in stress urinary incontinence: a systematic review.International urogynecology journal · 2020Pooled it
- Gentamicin Induces Laminin 332 and Improves Wound Healing in Junctional Epidermolysis Bullosa Patients with Nonsense Mutations.Molecular therapy : the journal of the American Society of Gene Therapy · 2020Trial
- Macrophage Extracellular Vesicles: Therapeutic Strategies for Corneal Fibrosis in Rare Diseases.Biomolecules · 2026Review
- Prenatal Identification of a NovelClinical case reports · 2026Article
- Novel eRF3a degrader enhances gentamicin-induced premature termination codon readthrough in epidermolysis bullosa.Molecular therapy. Nucleic acids · 2025Article
- Review
- Identification of deep intronic variants in junctional epidermolysis bullosa using genome sequencing and splicing assays.NPJ genomic medicine · 2025Article
- Article
- Novel readthrough agent suppresses nonsense mutations and restores functional type VII collagen and laminin 332 in epidermolysis bullosa.Molecular therapy. Nucleic acids · 2024Article
- Gene-edited cells: novel allogeneic gene/cell therapy for epidermolysis bullosa.Journal of applied genetics · 2024Review
- Highlights of Gene and Cell Therapy for Epidermolysis Bullosa and Ichthyosis.Dermatology and therapy · 2024Review
- Dystrophic epidermolysis with dilation of esophageal stricture: A case report.Experimental and therapeutic medicine · 2024Article
- Skin Microbial Composition and Genetic Mutation Analysis in Precision Medicine for Epidermolysis Bullosa.Current drug targets · 2024Review
- Functional analysis of Collagen 17a1: A genetic modifier of junctional epidermolysis bullosa in mice.PloS one · 2023Article
- Dystonin modifiers of junctional epidermolysis bullosa and models of epidermolysis bullosa simplex without dystonia musculorum.PloS one · 2023Article
- Seven naturally variant loci serve as genetic modifiers of Lamc2jeb induced non-Herlitz junctional Epidermolysis Bullosa in mice.PloS one · 2023Article
- Junctional epithelium and hemidesmosomes: Tape and rivets for solving the "percutaneous device dilemma" in dental and other permanent implants.Bioactive materials · 2022Review
- Genetic Disorders of the Extracellular Matrix: From Cell and Gene Therapy to Future Applications in Regenerative Medicine.Annual review of genomics and human genetics · 2022Review
- Epidermolysis Bullosa-A Different Genetic Approach in Correlation with Genetic Heterogeneity.Diagnostics (Basel, Switzerland) · 2022Review
- Genetic trend of the junctional epidermolysis bullosa in the German shorthaired pointer in Italy.Veterinary record open · 2021Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
introductionEpidermolysis bullosa (EB), a group of autosomal heritable blistering diseases, is characterised by extensive phenotypic variability with considerable morbidity and mortality. EB is classified into distinct subtypes depending on the location of blistering within the cutaneous dermoepidermal basement membrane zone. Ten genes are known to harbour mutations in the major types of EB, and the level of expression of these genes within the cutaneous basement membrane zone and in extracutaneous tissues, as well as the types and combinations of the mutations, explain in general terms the phenotypic variability.
methodsThe DebRA Molecular Diagnostics Laboratory, established in 1996 and supported in part by the patient advocacy organisation DebRA of America, has analysed over 1000 families with different forms of EB.
resultsIn total, 265 cases were submitted with the preliminary diagnosis of junctional or hemidesmosomal forms of EB. We found 393 mutant alleles in seven different genes, with 173 of the mutations being distinct and 71 previously unpublished. DISCUSSION: These findings attest to the clinical and molecular heterogeneity of the junctional and hemidesmosomal subtypes of EB. The results also reveal exceptions to the general rules on genotype-phenotype correlations, unusual phenotypes, and surprising genetics. Collectively, mutation analysis in different forms of EB provides the basis for improved classification with prognostic implications and for prenatal and preimplantation diagnosis in families at risk for recurrence of EB.
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Registered trials
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