| Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder. | 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, Rodríguez-Ballesteros M, Gandía M, Gómez-Rosas E, Villamar M, Scimemi P, Mancini P, Rendtorff ND, Moreno-Pelayo MA, Tranebjaerg L, Medà C, Santarelli R, Del Castillo I., Free PMC Article | 02/26/2022 |
| two mutations, one in MYO6 (c.554-1 G > A) gene and another in PJVK (c.547C > T) are responsible for 1% each of the Iranian ARNSHL patients | Targeted Mutation Analysis of the SLC26A4, MYO6, PJVK and CDH23 Genes in Iranian Patients with AR Nonsyndromic Hearing Loss.
Alimardani M, Hosseini SM, Khaniani MS, Haghi MR, Eslahi A, Farjami M, Chezgi J, Derakhshan SM, Mojarrad M. | 12/14/2019 |
| We identified in Moroccan deaf patients two mutations in PJVK and one mutation in MYO15A described for the first time in association with non-syndromic recessive hearing loss | Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families.
Salime S, Charif M, Bousfiha A, Elrharchi S, Bakhchane A, Charoute H, Kabine M, Snoussi K, Lenaers G, Barakat A. | 10/28/2017 |
| Study describes a genetic form of noise-induced hearing loss , by showing that pejvakin deficiency in mice and DFNB59 patients leads to hypervulnerability to sound, due to a peroxisomal deficiency. | Hypervulnerability to Sound Exposure through Impaired Adaptive Proliferation of Peroxisomes.
Delmaghani S, Defourny J, Aghaie A, Beurg M, Dulon D, Thelen N, Perfettini I, Zelles T, Aller M, Meyer A, Emptoz A, Giraudet F, Leibovici M, Dartevelle S, Soubigou G, Thiry M, Vizi ES, Safieddine S, Hardelin JP, Avan P, Petit C. | 02/27/2016 |
| p.C312W fsX19 mutation causative of autosomal recessive, non-syndromic, prelingual sensorineural hearing impairment | Identification of a novel mutation of PJVK in the Chinese non-syndromic hearing loss population with low prevalence of the PJVK mutations.
Zhang QJ, Lan L, Li N, Qi Y, Zong L, Shi W, Yu L, Wang H, Yang J, Xie LY, Zhao F, Wang DY, Han B, Wang QJ. | 10/3/2015 |
| PCDH15 or DFNB59 variants are associated with poor CI performance, yet children with PCDH15 or DFNB59 variants might show clinical features indistinguishable from those of other typical pediatric cochlear implant recipients. | Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing.
Wu CC, Lin YH, Liu TC, Lin KN, Yang WS, Hsu CJ, Chen PL, Wu CM., Free PMC Article | 09/26/2015 |
| a c.406C>T (p.R136X) nonsense mutation in the DFNB59 gene hearing loss in an isolated Arab population | High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel.
Borck G, Rainshtein L, Hellman-Aharony S, Volk AE, Friedrich K, Taub E, Magal N, Kanaan M, Kubisch C, Shohat M, Basel-Vanagaite L. | 07/6/2013 |
| Missense mutation in PJVK causes progressive hearing loss. | A p.C343S missense mutation in PJVK causes progressive hearing loss.
Mujtaba G, Bukhari I, Fatima A, Naz S., Free PMC Article | 09/1/2012 |
| OTOF and PJVK gene variants have a role in auditory neuropathy spectrum disorder in Chinese patients | Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder.
Wang J, Fan YY, Wang SJ, Liang PF, Wang JL, Qiu JH., Free PMC Article | 04/14/2012 |
| failed to detect the presence either of mutations T54I and R183W in the exon 2 and exon 4 or any other deafness-associated mutations in the whole DFNB59 gene in this family | [Sequence analysis of DFNB59 gene in a Chinese family with dominantly inherited auditory neuropathy].
Xu S, Chen Z, Lu Y, Wei Q, Cao X, Xing G, Bu X. | 06/18/2011 |
| Observational study of genotype prevalence. (HuGE Navigator) | Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.
Mahdieh N, Rabbani B, Wiley S, Akbari MT, Zeinali S. | 09/15/2010 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article | 09/15/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium., Free PMC Article | 09/15/2010 |
| Mutations in DFNB59 are associated with autosomal recessive non-syndromic hearing loss in about 6.7% of GJB2-negative families. | Novel mutations in the pejvakin gene are associated with autosomal recessive non-syndromic hearing loss in Iranian families.
Hashemzadeh Chaleshtori M, Simpson MA, Farrokhi E, Dolati M, Hoghooghi Rad L, Amani Geshnigani S, Crosby AH. | 01/21/2010 |
| We have identified a consanguineous family segregating autosomal recessive congenital progressive hearing loss (ARNSHL) and retinal degeneration with central vestibular dysfunction having homozygosity for a DFNB59 mutation. | Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction.
Ebermann I, Walger M, Scholl HP, Charbel Issa P, Lüke C, Nürnberg G, Lang-Roth R, Becker C, Nürnberg P, Bolz HJ. | 01/21/2010 |
| DFNB59, a newly identified gene on chromosome 2q31.1-q31.3 mutated in four families segregating autosomal recessive auditory neuropathy | Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy.
Delmaghani S, del Castillo FJ, Michel V, Leibovici M, Aghaie A, Ron U, Van Laer L, Ben-Tal N, Van Camp G, Weil D, Langa F, Lathrop M, Avan P, Petit C. | 01/21/2010 |
| data indicate that nonsense mutations in DFNB59 cause nonsyndromic hearing loss, but that mutations in DFNB59 are not a major cause of nonsyndromic hearing impairment in the Turkish and Dutch population | Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.
Collin RW, Kalay E, Oostrik J, Caylan R, Wollnik B, Arslan S, den Hollander AI, Birinci Y, Lichtner P, Strom TM, Toraman B, Hoefsloot LH, Cremers CW, Brunner HG, Cremers FP, Karaguzel A, Kremer H. | 01/21/2010 |