Associated Papers
Analysis of a Novel Mouse Mutation of the Deafness Gene Pejvakin.
Marcos-Almaraz MT et al.
Genesis (new York, N.y. : 2000), 2026
Splice-altering variant of PJVK gene in a Mauritanian family with non-syndromic hearing impairment.
Salame M et al.
Journal of Applied Genetics, 2025
GDC: Integration of Multi-Omic and Phenotypic Resources to Unravel the Genetic Pathogenesis of Hearing Loss.
Cheng H et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.
Sakaguchi N et al.
Npj Genomic Medicine, 2022
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
Generation and pathological characterization of a transgenic mouse model carrying a missense PJVK mutation.
Cheng YF et al.
Biochemical and Biophysical Research Communications, 2020
Gasdermins: pore-forming activities and beyond.
Zheng Z et al.
Acta Biochimica Et Biophysica Sinica, 2020
Targeted Mutation Analysis of the SLC26A4, MYO6, PJVK and CDH23 Genes in Iranian Patients with AR Nonsyndromic Hearing Loss.
Alimardani M et al.
Fetal and Pediatric Pathology, 2019
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
An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population.
Ghasemnejad T et al.
International Journal of Pediatric Otorhinolaryngology, 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
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.
Yan D et al.
Human Genetics, 2016
Auditory neuropathy--neural and synaptic mechanisms.
Moser T et al.
Nature Reviews. Neurology, 2016
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
High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel.
Borck G et al.
Clinical Genetics, 2012
A p.C343S missense mutation in PJVK causes progressive hearing loss.
Mujtaba G et al.
Gene, 2012
Autosomal recessive nonsyndromic deafness genes: a review.
Duman D et al.
Frontiers in Bioscience (landmark Edition), 2012
DFNA5, a gene involved in hearing loss and cancer: a review.
de Beeck KO et al.
The Annals of Otology, Rhinology, and Laryngology, 2012
[Sequence analysis of DFNB59 gene in a Chinese family with dominantly inherited auditory neuropathy].
Xu S et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2008
Novel mutations in the pejvakin gene are associated with autosomal recessive non-syndromic hearing loss in Iranian families.
Hashemzadeh Chaleshtori M et al.
Clinical Genetics, 2007
Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.
Collin RW et al.
Human Mutation, 2007
Members of a novel gene family, Gsdm, are expressed exclusively in the epithelium of the skin and gastrointestinal tract in a highly tissue-specific manner.
Tamura M et al.
Genomics, 2007
Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy.
Delmaghani S et al.
Nature Genetics, 2006