Juna Leppert
Freiburg, BW, Germany
Last Updated: 09/26/2026
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Found 9 publications
High-efficiency base editing in the retina in primates and human tissues.
Journal: Nature medicine
Published: May 11, 2023
A Silent COL17A1 Variant Alters Splicing and Causes Junctional Epidermolysis Bullosa.
Journal: Acta dermato-venereologica
Published: January 24, 2019
Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy.
Journal: The Journal of investigative dermatology
Published: April 18, 2018
Combinatorial Omics Analysis Reveals Perturbed Lysosomal Homeostasis in Collagen VII-deficient Keratinocytes.
Journal: Molecular & cellular proteomics : MCP
Published: October 30, 2017
Homozygous Nonsense Mutation and Additional Deletion of an Amino Acid in BPAG1e Causing Mild Localized Epidermolysis Bullosa Simplex.
Journal: Acta dermato-venereologica
Published: January 26, 2017
Monoallelic Large Intragenic KRT5 Deletions Account for Genetically Unsolved Cases of Epidermolysis Bullosa Simplex.
Journal: The Journal of investigative dermatology
Published: December 31, 2016
Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility.
Journal: American journal of human genetics
Published: October 14, 2016
Amino acid duplication in the coiled-coil structure of collagen XVII alters its maturation and trimerization causing mild junctional epidermolysis bullosa.
Journal: Human molecular genetics
Published: October 10, 2016
Molecular heterogeneity of epidermolysis bullosa simplex: contribution of EXPH5 mutations.
Journal: The Journal of investigative dermatology
Published: September 06, 2013
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Last Updated: 09/26/2026