Associated Papers
Translational readthrough using TRIDs - Achievements and challenges for the treatment of inherited retinal disorders.
Nagel-Wolfrum K et al.
Molecular Aspects of Medicine, 2026
Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity.
Riahi Z et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
41359850 (PubMed )
Supplement: pnas.2518445122.sapp.pdf
PCDH15 dual-AAV gene therapy for deafness and blindness in Usher syndrome type 1F models.
Ivanchenko MV et al.
The Journal of Clinical Investigation, 2024
A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.
Munir A et al.
Bmc Ophthalmology, 2024
38317096 (PubMed )
Supplement: 12886_2024_3319_MOESM2_ESM.xlsx › Supplementary_Table_S2
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.
Kaseniit KE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32595206 (PubMed )
Supplement: 41436_2020_869_MOESM2_ESM.xlsx › PCDH15
Truncating variants in the majority of the cytoplasmic domain of PCDH15 are unlikely to cause Usher syndrome 1F.
Perreault-Micale C et al.
The Journal of Molecular Diagnostics : Jmd, 2014
A mutation in the Srrm4 gene causes alternative splicing defects and deafness in the Bronx waltzer mouse.
Nakano Y et al.
Plos Genetics, 2012
Introducing sense into nonsense in treatments of human genetic diseases.
Linde L et al.
Trends in Genetics : Tig, 2008
In vitro and ex vivo suppression by aminoglycosides of PCDH15 nonsense mutations underlying type 1 Usher syndrome.
Rebibo-Sabbah A et al.
Human Genetics, 2007
PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.
Ahmed ZM et al.
Human Molecular Genetics, 2003
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