Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa

19 Sept 2019

Abstract excerpt

Dystrophic epidermolysis bullosa (DEB) is a devastating blistering disease affecting skin and mucous membranes. It is caused by pathogenic variants in the COL7A1 gene encoding type VII collagen, and can be inherited dominantly or recessively. Recently, promising proof-of-principle has been shown for antisense oligonucleotide (AON)-mediated exon skipping as a therapeutic approach for DEB. However, the precise...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Autoimmune Bullous Skin Diseases
Share to Plant Reproductive Biology
Share to Skin and Cellular Biology Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 31670143
DOI: 10.1016/j.omtn.2019.09.009

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis BullosaPMID 31670143Read ↗

Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa.Semantic proximity Read ↗

Splice modulation strategy applied to deep intronic variants in COL7A1 causing recessive dystrophic epidermolysis bullosaSemantic proximity Read ↗

Antisense Oligonucleotide-mediated Exon Skipping as a Systemic Therapeutic Approach for Recessive Dystrophic Epidermolysis BullosaSemantic proximity Read ↗

Targeted Exon Skipping Restores Type VII Collagen Expression and Anchoring Fibril Formation in an In Vivo RDEB Model.Semantic proximity Read ↗

Splicing Modulation via Antisense Oligonucleotides in Recessive Dystrophic Epidermolysis BullosaSemantic proximity Read ↗

In Vitro Models for the Evaluation of Antisense Oligonucleotides in Skin.Semantic proximity Read ↗

Skipped exon in COL7A1 determines the clinical phenotypes of dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Antisense-mediated exon skipping to reframe transcripts.Semantic proximity Read ↗

Personalized Development of Antisense Oligonucleotides for Exon Skipping Restores Type XVII Collagen Expression in Junctional Epidermolysis Bullosa.Semantic proximity Read ↗

New RDEB intermediate variant with in-frame partial exon skipping in FN III-like domain of type VII collagenSemantic proximity Read ↗

Base edited skin equivalents with clinical potential for ex vivo correction of recessive dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Deletion of a Pathogenic Mutation-Containing Exon of COL7A1 Allows Clonal Gene Editing Correction of RDEB Patient Epidermal Stem CellsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.