Associated Papers
Splice-altering variant of PJVK gene in a Mauritanian family with non-syndromic hearing impairment.
Salame M et al.
Journal of Applied Genetics, 2025
Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder.
Domínguez-Ruiz M et al.
Genes, 2022
Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families.
Salime S et al.
International Journal of Pediatric Otorhinolaryngology, 2017
Genetic causes of moderate to severe hearing loss point to modifiers.
Naz S et al.
Clinical Genetics, 2017
Pejvakin, a Candidate Stereociliary Rootlet Protein, Regulates Hair Cell Function in a Cell-Autonomous Manner.
Kazmierczak M et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2017
Conditional deletion of pejvakin in adult outer hair cells causes progressive hearing loss in mice.
Harris SL et al.
Neuroscience, 2017
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
Sloan-Heggen CM et al.
Human Genetics, 2016
26969326 (PubMed )
Supplement: 439_2016_1648_MOESM1_ESM.pdf
Identification of a novel mutation of PJVK in the Chinese non-syndromic hearing loss population with low prevalence of the PJVK mutations.
Zhang QJ et al.
Acta Oto-laryngologica, 2015
A p.C343S missense mutation in PJVK causes progressive hearing loss.
Mujtaba G et al.
Gene, 2012
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