Associated Papers
Nonsense Mutations in Rare and Ultra-Rare Human Disorders: An Overview.
Vitale E et al.
Iubmb Life, 2025
Current updates on genetic spectrum of usher syndrome.
Ullah F et al.
Nucleosides, Nucleotides & Nucleic Acids, 2025
Identification of Unexpected Pathomechanisms Underlying the Human Usher Syndrome.
Wolfrum U et al.
Advances in Experimental Medicine and Biology, 2025
Current approaches for Usher syndrome disease models and developing therapies.
Leith FK et al.
Frontiers in Cell and Developmental Biology, 2025
Readthrough Activators and Nonsense-Mediated mRNA Decay Inhibitor Molecules: Real Potential in Many Genetic Diseases Harboring Premature Termination Codons.
Benslimane N et al.
Pharmaceuticals (basel, Switzerland), 2024
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
Li S et al.
Biomolecules, 2023
Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy.
Nagel-Wolfrum K et al.
Human Molecular Genetics, 2023
The Usher syndrome 1C protein harmonin regulates canonical Wnt signaling.
Schäfer J et al.
Frontiers in Cell and Developmental Biology, 2023
Early disruption of photoreceptor cell architecture and loss of vision in a humanized pig model of usher syndromes.
Grotz S et al.
Embo Molecular Medicine, 2022
The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.
Delmaghani S et al.
Human Genetics, 2022
Ataluren-Promising Therapeutic Premature Termination Codon Readthrough Frontrunner.
Michorowska S
Pharmaceuticals (basel, Switzerland), 2021
Usher Syndrome: Genetics and Molecular Links of Hearing Loss and Directions for Therapy.
Whatley M et al.
Frontiers in Genetics, 2020
Mechanism and evidence of nonsense suppression therapy for genetic eye disorders.
Richardson R et al.
Experimental Eye Research, 2017
Gene and cell-based therapies for inherited retinal disorders: An update.
Sengillo JD et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2016
Usher syndrome in Denmark: mutation spectrum and some clinical observations.
Dad S et al.
Molecular Genetics & Genomic Medicine, 2016
Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model.
Moosajee M et al.
Human Molecular Genetics, 2016
Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis.
Ben-Rebeh I et al.
Molecular Vision, 2016
NADf chip, a two-color microarray for simultaneous screening of multigene mutations associated with hearing impairment in North African Mediterranean countries.
Chakchouk I et al.
The Journal of Molecular Diagnostics : Jmd, 2015
Translational read-through as an alternative approach for ocular gene therapy of retinal dystrophies caused by in-frame nonsense mutations.
Nagel-Wolfrum K et al.
Visual Neuroscience, 2014
The retinal phenotype of Usher syndrome: pathophysiological insights from animal models.
El-Amraoui A et al.
Comptes Rendus Biologies, 2014
Therapy strategies for Usher syndrome Type 1C in the retina.
Nagel-Wolfrum K et al.
Advances in Experimental Medicine and Biology, 2014
Ataluren as an agent for therapeutic nonsense suppression.
Peltz SW et al.
Annual Review of Medicine, 2013
Pharmaceutical therapies to recode nonsense mutations in inherited diseases.
Lee HL et al.
Pharmacology & Therapeutics, 2012
A comparative evaluation of NB30, NB54 and PTC124 in translational read-through efficacy for treatment of an USH1C nonsense mutation.
Goldmann T et al.
Embo Molecular Medicine, 2012
Gene repair of an Usher syndrome causing mutation by zinc-finger nuclease mediated homologous recombination.
Overlack N et al.
Investigative Ophthalmology & Visual Science, 2012
Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches.
Bonnet C et al.
Current Opinion in Neurology, 2012
PTC124-mediated translational readthrough of a nonsense mutation causing Usher syndrome type 1C.
Goldmann T et al.
Human Gene Therapy, 2011
Beneficial read-through of a USH1C nonsense mutation by designed aminoglycoside NB30 in the retina.
Goldmann T et al.
Investigative Ophthalmology & Visual Science, 2010
USH1C: a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele.
Ouyang XM et al.
Clinical Genetics, 2003
Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness.
Ouyang XM et al.
Human Genetics, 2002
Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.
Ahmed ZM et al.
Human Genetics, 2002
Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis.
Zwaenepoel I et al.
Human Mutation, 2001
Usher syndrome: clinical features, molecular genetics and advancing therapeutics.
Toms M et al.
Therapeutic Advances in Ophthalmology, 0