Publications by authors named "W Muss"
Objective: To expand the clinical and genetic spectrum of nemaline myopathy 10 by a series of Austrian and German patients with a milder disease course and missense mutations in .
Methods: We characterized the clinical features and the genetic status of 4 unrelated adolescent or adult patients with nemaline myopathy.
Results: The 4 patients showed a relatively mild disease course.
Background: Generalized severe epidermolysis bullosa simplex (EBS-gen sev) is a genetic blistering skin disease in which autosomal dominant mutations in either the keratin KRT5 or KRT14 genes lead to impaired function of the intermediate filament cytoskeleton in the basal epidermis. Here we present an ex vivo RNA trans-splicing-based therapeutic approach to correct the phenotype.
Objectives: To correct a mutation within exon 1 of the KRT14 gene, using a 5'-trans-splicing approach, where any mutation within the first seven exons could be replaced by a single therapeutic molecule.
Introduction: Marginal zone B-cell lymphoma is a rare disease which can be considerably difficult to recognize and diagnose when signs of systemic involvement are absent.
Case Presentation: We report the case of a 57-year-old woman with initial olfactory disturbance, followed by psychosis, diabetes insipidus and hypothalamic eating disorder as an uncommon clinical presentation of marginal zone B-cell lymphoma.
Conclusion: Marginal zone B-cell lymphoma should be considered as a potential differential diagnosis in patients with hypothalamic disturbances.
Article Synopsis
- Functional defects in type VII collagen, linked to mutations in the COL7A1 gene, lead to severe skin blistering in recessive dystrophic epidermolysis bullosa (RDEB).
- The large size of the COL7A1 gene makes it challenging to use traditional gene therapy methods, but trans-splicing techniques offer a solution by shortening the transcript.
- By using trans-splicing to correct type VII collagen expression in RDEB skin cells, researchers observed improved cell function and structure, paving the way for potential gene therapy treatments.