Publications by authors named "Juna Leppert"

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High-efficiency base editing in the retina in primates and human tissues.
Alissa Muller, Jack Sullivan, Wibke Schwarzer, Mantian Wang, Cindy Park-Windhol, Juna Leppert

Nat Med· February 2025

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A Silent COL17A1 Variant Alters Splicing and Causes Junctional Epidermolysis Bullosa.
Julia Hoffmann, Federica Casetti, Antonia Reimer, Juna Leppert, Gabriele Grüninger

Acta Derm Venereol· April 2019

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Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy.
Agnes Schwieger-Briel, Ignacia Fuentes, Daniele Castiglia, Antonio Barbato, Matthias Greutmann, Juna Leppert

J Invest Dermatol· January 2019

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Combinatorial Omics Analysis Reveals Perturbed Lysosomal Homeostasis in Collagen VII-deficient Keratinocytes.
Kerstin Thriene, Björn Andreas Grüning, Olivier Bornert, Anika Erxleben, Juna Leppert

Mol Cell Proteomics· April 2018

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Monoallelic Large Intragenic KRT5 Deletions Account for Genetically Unsolved Cases of Epidermolysis Bullosa Simplex.
Cristina Has, Hauke Schumann, Juna Leppert, Yinghong He, Britta Hartmann

J Invest Dermatol· October 2017

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Homozygous Nonsense Mutation and Additional Deletion of an Amino Acid in BPAG1e Causing Mild Localized Epidermolysis Bullosa Simplex.
Yinghong He, Juna Leppert, Holger Steinke, Cristina Has

Acta Derm Venereol· May 2017

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Amino acid duplication in the coiled-coil structure of collagen XVII alters its maturation and trimerization causing mild junctional epidermolysis bullosa.
Jasmin K Kroeger, Silke C Hofmann, Juna Leppert, Cristina Has, Claus-Werner Franzke

Hum Mol Genet· February 2017

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Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility.
Yinghong He, Kristin Maier, Juna Leppert, Ingrid Hausser, Agnes Schwieger-Briel

Am J Hum Genet· December 2016

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Molecular heterogeneity of epidermolysis bullosa simplex: contribution of EXPH5 mutations.
Manuela Pigors, Agnes Schwieger-Briel, Juna Leppert, Dimitra Kiritsi, Jürgen Kohlhase

J Invest Dermatol· March 2014

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