Associated Papers
Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia.
Nouri Z et al.
Bmc Medical Genomics, 2024
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM
Temporal and spatial assembly of inner ear hair cell ankle link condensate through phase separation.
Wang H et al.
Nature Communications, 2023
Novel homozygous variant in the PDZD7 gene in a family with nonsyndromic sensorineural hearing loss.
Du Q et al.
Bmc Medical Genomics, 2022
Deciphering the Molecular Interaction Between the Adhesion G Protein-Coupled Receptor ADGRV1 and its PDZ-Containing Regulator PDZD7.
Colcombet-Cazenave B et al.
Frontiers in Molecular Biosciences, 2022
A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss.
Fahimi H et al.
Bmc Medical Genomics, 2021
Identification of a Potential Founder Effect of a Novel PDZD7 Variant Involved in Moderate-to-Severe Sensorineural Hearing Loss in Koreans.
Lee SY et al.
International Journal of Molecular Sciences, 2019
Novel recessive PDZD7 biallelic mutations in two Chinese families with non-syndromic hearing loss.
Guan J et al.
American Journal of Medical Genetics. Part A, 2018
Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations.
Morgan A et al.
Frontiers in Genetics, 2018
An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population.
Ghasemnejad T et al.
International Journal of Pediatric Otorhinolaryngology, 2017
PDZD7 and hearing loss: More than just a modifier.
Booth KT et al.
American Journal of Medical Genetics. Part A, 2015
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