Associated Papers
Novel eRF3a degrader enhances gentamicin-induced premature termination codon readthrough in epidermolysis bullosa.
Miao KL et al.
Molecular Therapy. Nucleic Acids, 2025
Genetic profiling of epidermolysis bullosa in a large Brazilian cohort.
Ota VK et al.
Clinical and Experimental Dermatology, 2025
Genetic landscape of a cohort of children with varicella-zoster virus encephalitis, cerebellitis and stroke.
Winzig F et al.
The Journal of Infectious Diseases, 2025
Therapeutic Opportunities in Overcoming Premature Termination Codons in Epidermolysis Bullosa via Translational Readthrough.
Miao KL et al.
Cells, 2025
Clinical and Allelic Heterogeneity in a Small Cohort of Patients with Inherited Epidermolysis Bullosa.
Buianova AA et al.
International Journal of Molecular Sciences, 2025
Efficient Dual Cas9 Nickase Correction of a Prevalent Pathogenic LAMB 3 Variant for Junctional Epidermolysis Bullosa.
du Rand A et al.
Jid Innovations : Skin Science From Molecules to Population Health, 2025
Alterations in the microenvironment of junctional epidermolysis bullosa keratinocytes: A gene expression study.
Wang Y et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2025
Rare variants in cardiomyopathy genes predispose to cardiac injury in severe COVID-19 patients of African or Hispanic ancestry.
Qu HQ et al.
Journal of Molecular Medicine (berlin, Germany), 2025
An intronic variant in LAMB3 contributes to junctional epidermolysis bullosa and enamel hypoplasia via translational attenuation.
Yang Y et al.
Archives of Oral Biology, 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
Broadening the Genetic Spectrum of Painful Small-Fiber Neuropathy through Whole-Exome Study in Early-Onset Cases.
Misra K et al.
International Journal of Molecular Sciences, 2024
Genotype-Phenotype Correlation in Junctional Epidermolysis Bullosa: Signposts to Severity.
Wen D et al.
The Journal of Investigative Dermatology, 2024
En Route to Targeted Ribosome Editing to Replenish Skin Anchor Protein LAMB3 in Junctional Epidermolysis Bullosa.
Wimmer B et al.
Jid Innovations : Skin Science From Molecules to Population Health, 2024
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
Li S et al.
Biomolecules, 2023
Emerging Personalized Opportunities for Enhancing Translational Readthrough in Rare Genetic Diseases and Beyond.
Wagner RN et al.
International Journal of Molecular Sciences, 2023
Molecular genetic basis of epidermolysis bullosa.
Kotalevskaya YY et al.
Vavilovskii Zhurnal Genetiki I Selektsii, 2023
Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification.
Bloch-Zupan A et al.
Frontiers in Physiology, 2023
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
TBX3 and EFNA4 Variant in a Family with Ulnar-Mammary Syndrome and Sagittal Craniosynostosis.
Tung ML et al.
Genes, 2022
Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.
Wang T et al.
Ebiomedicine, 2022
Epidermolysis Bullosa-A Different Genetic Approach in Correlation with Genetic Heterogeneity.
Pânzaru MC et al.
Diagnostics (basel, Switzerland), 2022
Junctional epidermolysis bullosa with extensive lung involvement in three patients with a LAMB3 Mutation.
Ahmed F et al.
Pediatric Dermatology, 2022
Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia).
Nadyrshina D et al.
Genes, 2022
Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report.
Wang W et al.
Frontiers in Genetics, 2022
PDigenic Mutations in Junctional Epidermolysis Bullosa in An Iranian Family.
Riahi K et al.
Cell Journal, 2021
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
Gene Replacement Therapies for Genodermatoses: A Status Quo.
Koller U et al.
Frontiers in Genetics, 2021
Hologene 5: A Phase II/III Clinical Trial of Combined Cell and Gene Therapy of Junctional Epidermolysis Bullosa.
De Rosa L et al.
Frontiers in Genetics, 2021
Aberrant splicing as potential modifier of the phenotype of junctional epidermolysis bullosa.
Mittwollen R et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2020
Splicing of the cake can affect the severity of epidermolysis bullosa.
Murrell DF et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2020
Multiple Skin Squamous Cell Carcinomas in Junctional Epidermolysis Bullosa Due to Altered Laminin-332 Function.
Fortugno P et al.
International Journal of Molecular Sciences, 2020
Context-Dependent Strategies for Enhanced Genome Editing of Genodermatoses.
March OP et al.
Cells, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Phenotype and Variant Spectrum in the LAMB3 Form of Amelogenesis Imperfecta.
Smith CEL et al.
Journal of Dental Research, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Attenuation of Severe Generalized Junctional Epidermolysis Bullosa by Systemic Treatment with Gentamicin.
Hammersen J et al.
Dermatology (basel, Switzerland), 2019
Targeted next-generation sequencing identifies a novel mutation of LAMB3 in a Chinese neonatal patient presented with junctional epidermolysis bullosa.
Wang H et al.
Medicine, 2018
CRISPR/Cas9-Mediated In Situ Correction of LAMB3 Gene in Keratinocytes Derived from a Junctional Epidermolysis Bullosa Patient.
Benati D et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2018
CRISPR-induced exon skipping is dependent on premature termination codon mutations.
Sui T et al.
Genome Biology, 2018
Gentamicin induces LAMB3 nonsense mutation readthrough and restores functional laminin 332 in junctional epidermolysis bullosa.
Lincoln V et al.
Proceedings of the National Academy of Sciences of the United States of America, 2018
The Position of Targeted Next-generation Sequencing in Epidermolysis Bullosa Diagnosis.
Has C et al.
Acta Dermato-venereologica, 2018
A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa.
Lucky AW et al.
Pediatric Dermatology, 2018
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017