| 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. | 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, Sarmadi A, Narrei S, Kianersi H, Kianersi F, Tabatabaiefar MA., Free PMC Article | 07/25/2024 |
| Novel homozygous variant in the PDZD7 gene in a family with nonsyndromic sensorineural hearing loss. | Novel homozygous variant in the PDZD7 gene in a family with nonsyndromic sensorineural hearing loss.
Du Q, Sun Q, Gu X, Wang J, Li W, Guo L, Li H., Free PMC Article | 07/2/2022 |
| PDZD7 can be an important causative gene for moderate to severe ARNSHL in Koreans. Moreover, at least some, if not all, p.Arg164Trp alleles in Koreans could exert a potential founder effect and arise from diverse haplotypes as a mutational hot spot. | Identification of a Potential Founder Effect of a Novel PDZD7 Variant Involved in Moderate-to-Severe Sensorineural Hearing Loss in Koreans.
Lee SY, Han JH, Kim BJ, Oh SH, Lee S, Oh DY, Choi BY., Free PMC Article | 01/25/2020 |
| Three mutations in PDZD7 gene linked to autosomal recessive non-syndromic hearing loss (ARNSHL) were identified in a Chinese pedigree. The findings expand not only our knowledge of genetic causes of ARNSHL, but also PDZD7 genes mutation spectrum of the disease. They will aid personalized genetic counseling, molecular diagnostics and clinical management of this condition. | Novel recessive PDZD7 biallelic mutations associated with hereditary hearing loss in a Chinese pedigree.
Luo H, Hassan RN, Yan J, Xie J, Du P, Hu Q, Zhu Y, Jiang W. | 07/20/2019 |
| Lnc-PDZD7 promotes stemness properties and suppresses chemosensitivity though the miR-101/EZH2/ATOH8 pathway. | Lnc-PDZD7 contributes to stemness properties and chemosensitivity in hepatocellular carcinoma through EZH2-mediated ATOH8 transcriptional repression.
Zhang Y, Tang B, Song J, Yu S, Li Y, Su H, He S., Free PMC Article | 06/15/2019 |
| This is the first report to identify PDZD7 as an ARNSHL-associated gene in the Chinese population. Our finding could expand the pathogenic spectrum and strengthens the clinical diagnostic role of the PDZD7 gene in ARNSHL patients. | Novel recessive PDZD7 biallelic mutations in two Chinese families with non-syndromic hearing loss.
Guan J, Wang H, Lan L, Wang L, Yang J, Xie L, Yin Z, Xiong W, Zhao L, Wang D, Wang Q., Free PMC Article | 06/23/2018 |
| PDZD7 is confirmed as a bona fide autosomal recessive nonsyndromic hearing loss gene. | Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene.
Vona B, Lechno S, Hofrichter MA, Hopf S, Läig AK, Haaf T, Keilmann A, Zechner U, Bartsch O. | 01/13/2018 |
| Mutations in PDZD7 cause autosomal recessive non-syndromic hearing loss. | PDZD7 and hearing loss: More than just a modifier.
Booth KT, Azaiez H, Kahrizi K, Simpson AC, Tollefson WT, Sloan CM, Meyer NC, Babanejad M, Ardalani F, Arzhangi S, Schnieders MJ, Najmabadi H, Smith RJ., Free PMC Article | 10/22/2016 |
| Both WHRN and PDZD7 are required for the complex formation with USH2A and GPR98. | Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2.
Chen Q, Zou J, Shen Z, Zhang W, Yang J., Free PMC Article | 04/18/2015 |
| overexpression of another Usher syndrome protein, PDZD7, decreased the AC inhibition of the VLGR1 beta-subunit | Constitutive Gαi coupling activity of very large G protein-coupled receptor 1 (VLGR1) and its regulation by PDZD7 protein.
Hu QX, Dong JH, Du HB, Zhang DL, Ren HZ, Ma ML, Cai Y, Zhao TC, Yin XL, Yu X, Xue T, Xu ZG, Sun JP., Free PMC Article | 01/24/2015 |
| PDZD7 is a scaffolding component of the ankle-link complex in stereocilia and is associated with the Usher syndrome protein network. | Localization of PDZD7 to the stereocilia ankle-link associates this scaffolding protein with the Usher syndrome protein network.
Grati M, Shin JB, Weston MD, Green J, Bhat MA, Gillespie PG, Kachar B., Free PMC Article | 01/5/2013 |
| PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. | PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.
Ebermann I, Phillips JB, Liebau MC, Koenekoop RK, Schermer B, Lopez I, Schäfer E, Roux AF, Dafinger C, Bernd A, Zrenner E, Claustres M, Blanco B, Nürnberg G, Nürnberg P, Ruland R, Westerfield M, Benzing T, Bolz HJ., Free PMC Article | 06/28/2010 |
| PDZD7 is a new autosomal-recessive deafness-causing gene and a prime candidate gene for Usher syndrome. | Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment.
Schneider E, Märker T, Daser A, Frey-Mahn G, Beyer V, Farcas R, Schneider-Rätzke B, Kohlschmidt N, Grossmann B, Bauss K, Napiontek U, Keilmann A, Bartsch O, Zechner U, Wolfrum U, Haaf T. | 01/21/2010 |