ArticleJournal of medical genetics2007
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.
Article in Journal of medical genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 82 papers.
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Who cites it
82 citing papers in PubMed, 275 citations in OpenAlex.
- Revisiting Type VII Collagen Mislocalisation in Dystrophic Epidermolysis Bullosa Using High-Resolution Imaging.Experimental dermatology · 2026Article
- Amniotic Membrane Transplantation Preserves Vision in Pediatric Recessive Dystrophic Epidermolysis Bullosa: Case Series.Journal of clinical medicine · 2026Article
- Article
- Recombinant humanized type VII collagen for skin repair and regeneration: prospects for reconstructing the dermal-epidermal junction.Frontiers in medicine · 2026Review
- Targeting, Mutagenesis, and Functional Testing Strategies for Large Collagens.Methods in molecular biology (Clifton, N.J.) · 2026Article
- Gene therapy for genodermatoses at the crossroads of innovation and clinical translation.Frontiers in bioengineering and biotechnology · 2026Review
- Long-term cytokine exposure remodels the methylome and transcriptome of recessive dystrophic epidermolysis bullosa keratinocytes - a bioinformatic analysis.Frontiers in cell and developmental biology · 2026Article
- A block staining method using ethanolic phosphotungstic acid for the visualisation of collagens in transmission electron microscopy.PloS one · 2026Article
- Review
- Clinical and Allelic Heterogeneity in a Small Cohort of Patients with Inherited Epidermolysis Bullosa.International journal of molecular sciences · 2025Article
- Progress in skin gene therapy: From the inside and out.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Review
- Functional genotype classification groups distinguish disease severity in recessive dystrophic epidermolysis bullosa.The British journal of dermatology · 2025Article
- Accelerated Type VII collagen turnover in systemic sclerosis patients, reflected by serological neo-epitope fragment biomarkers.Arthritis research & therapy · 2025Article
- A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa.BMC medical genomics · 2025Article
- Advances in Microengineered Platforms for Skin Research.JID innovations : skin science from molecules to population health · 2025Review
- Article
- A Novel COL7A1 Mutation in a Patient With Dystrophic Epidermolysis Bullosa. Successful Treatment With Upadacitinib.Clinical, cosmetic and investigational dermatology · 2025Article
- Novel readthrough agent suppresses nonsense mutations and restores functional type VII collagen and laminin 332 in epidermolysis bullosa.Molecular therapy. Nucleic acids · 2024Article
- Autosomal recessive type of dystrophic epidermolysis bullosa with a novel variant in the COL7A1 gene.Biomedical reports · 2024Article
- A homozygous nonsense mutation identified inJournal of medicine and life · 2024Article
22 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
backgroundThe dystrophic forms of epidermolysis bullosa (DEB), a group of heritable blistering disorders, show considerable phenotypic variability, and both autosomal dominant and autosomal recessive inheritance can be recognised. DEB is derived from mutations in the type VII collagen gene (COL7A1), encoding a large collagenous protein that is the predominant, if not exclusive, component of the anchoring fibrils at the dermal-epidermal junction.
methodsThe Dystrophic Epidermolysis Bullosa Research Association Molecular Diagnostics Laboratory (Philadelphia, Pennsylvania, USA), established in 1996, has analysed more than 1000 families with different forms of epidermolysis bullosa, among them 332 families with DEB. DNA specimens were subjected to mutation analysis by polymerase chain reaction (PCR) amplification of all 118 exons and flanking intronic sequences of COL7A1, followed either by heteroduplex scanning and sequencing of the PCR products demonstrating heteroduplexes or by direct nucleotide sequencing.
results355 mutant alleles out of the anticipated 438 (81.1%) were disclosed. Among these mutations, a total of 242 mutations were distinct and 138 were novel, previously unreported mutations. No evidence of mutations in any other gene was obtained. DISCUSSION: Examination of the mutation database suggested phenotype-genotype correlations, contributing to the improved subclassification of DEB with prognostic implications. The mutation information also forms the basis for accurate genetic counselling and prenatal diagnosis in families at risk for recurrence.
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