Associated Papers
Novel eRF3a degrader enhances gentamicin-induced premature termination codon readthrough in epidermolysis bullosa.
Miao KL et al.
Molecular Therapy. Nucleic Acids, 2025
Novel readthrough agent suppresses nonsense mutations and restores functional type VII collagen and laminin 332 in epidermolysis bullosa.
Levian B et al.
Molecular Therapy. Nucleic Acids, 2024
Genotype-Phenotype Correlation in Junctional Epidermolysis Bullosa: Signposts to Severity.
Wen D et al.
The Journal of Investigative Dermatology, 2024
Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients.
Tu WT et al.
Orphanet Journal of Rare Diseases, 2022
36578049 (PubMed )
Supplement: 13023_2022_2605_MOESM3_ESM.docx
Novel LAMB3 variants in two Asian patients and an overview of LAMB3 variants associated with generalized intermediate junctional epidermolysis bullosa.
Tan EC et al.
The Australasian Journal of Dermatology, 2022
Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.
Sakaguchi N et al.
Npj Genomic Medicine, 2022
35304488 (PubMed )
Supplement: 41525_2022_294_MOESM2_ESM.xlsx › Table_1
Complexity of Transcriptional and Translational Interference of Laminin-332 Subunits in Junctional Epidermolysis Bullosa with LAMB3 Mutations.
Hou PC et al.
Acta Dermato-venereologica, 2021
Gentamicin Induces Laminin 332 and Improves Wound Healing in Junctional Epidermolysis Bullosa Patients with Nonsense Mutations.
Kwong A et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2020
Successful renal transplant in a patient with non-Herlitz junctional epidermolysis bullosa.
Ungureanu S et al.
Clinical and Experimental Dermatology, 2014
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