Associated Papers
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
PCDH15 Dual-AAV Gene Therapy for Deafness and Blindness in Usher Syndrome Type 1F.
Ivanchenko MV et al.
Biorxiv : the Preprint Server for Biology, 2023
Mini-PCDH15 gene therapy rescues hearing in a mouse model of Usher syndrome type 1F.
Ivanchenko MV et al.
Nature Communications, 2023
37100771 (PubMed )
Supplement: 41467_2023_38038_MOESM2_ESM.pdf
In silico analysis of a disease-causing mutation in PCDH15 gene in a consanguineous Pakistani family with Usher phenotype.
Saleha S et al.
International Journal of Ophthalmology, 2016
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.
Doucette L et al.
European Journal of Human Genetics : Ejhg, 2009
Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.
Ahmed ZM et al.
Human Genetics, 2008
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
Review of Genotype-Phenotype Correlations in Usher Syndrome.
Nisenbaum E et al.
Ear and Hearing, 0
Select a paper to view details