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215 results

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Quoted phrase not found in phrase index: "Hereditary hearing loss and deafness"
Page 1
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell Sampol L, Claveria MA, Catala Mora J, Dad S, Møller LB, Rodriguez Jorge J, Hawlina M, Auricchio A, Sahel JA, Marlin S, Zrenner E, Audo I, Petit C. Bonnet C, et al. Eur J Hum Genet. 2016 Dec;24(12):1730-1738. doi: 10.1038/ejhg.2016.99. Epub 2016 Jul 27. Eur J Hum Genet. 2016. PMID: 27460420 Free PMC article.
Usher syndrome (USH), the most prevalent cause of hereditary deafness-blindness, is an autosomal recessive and genetically heterogeneous disorder. Three clinical subtypes (USH1-3) are distinguishable based on the severity of the sensorineural hearing impairme …
Usher syndrome (USH), the most prevalent cause of hereditary deafness-blindness, is an autosomal recessive and genetically het …
Deafness-in-a-dish: modeling hereditary deafness with inner ear organoids.
Romano DR, Hashino E, Nelson RF. Romano DR, et al. Hum Genet. 2022 Apr;141(3-4):347-362. doi: 10.1007/s00439-021-02325-9. Epub 2021 Aug 3. Hum Genet. 2022. PMID: 34342719 Free PMC article. Review.
Sensorineural hearing loss (SNHL) is a major cause of functional disability in both the developed and developing world. ...The successful development of more targeted approaches, such as growth factor, stem cell, and gene therapies, will require a yet deeper underst …
Sensorineural hearing loss (SNHL) is a major cause of functional disability in both the developed and developing world. ...The …
Clinical and genome-wide association analysis of chemoradiation-induced hearing loss in nasopharyngeal carcinoma.
He YQ, Luo LT, Wang TM, Xue WQ, Yang DW, Li DH, Diao H, Xiao RW, Deng CM, Zhang WL, Liao Y, Wu YX, Wang QL, Zhou T, Li XZ, Zheng XH, Zhang PF, Zhang SD, Hu YZ, Sun Y, Jia WH. He YQ, et al. Hum Genet. 2023 Jun;142(6):759-772. doi: 10.1007/s00439-023-02554-0. Epub 2023 Apr 16. Hum Genet. 2023. PMID: 37062025 Free PMC article.
In this study, we found that age at diagnosis, tumor stage, and concurrent cisplatin dose were positively associated with chemoradiation-induced hearing loss. We performed a genome-wide association study (GWAS) in 777 NPC patients and identified rs1050851 (within th …
In this study, we found that age at diagnosis, tumor stage, and concurrent cisplatin dose were positively associated with chemoradiation-ind …
Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries.
Al Mutery A, Mahfood M, Chouchen J, Tlili A. Al Mutery A, et al. Hum Genet. 2022 Apr;141(3-4):595-605. doi: 10.1007/s00439-021-02323-x. Epub 2021 Aug 2. Hum Genet. 2022. PMID: 34338889 Review.
The past 30 years have seen an exponential growth concerning the identification of genes and variants responsible for hereditary hearing loss (HL) worldwide. This has led to a huge gain in our understanding of molecular mechanisms of hearing and dea …
The past 30 years have seen an exponential growth concerning the identification of genes and variants responsible for hereditary h …
Cytomembrane Trafficking Pathways of Connexin 26, 30, and 43.
Zong YJ, Liu XZ, Tu L, Sun Y. Zong YJ, et al. Int J Mol Sci. 2023 Jun 19;24(12):10349. doi: 10.3390/ijms241210349. Int J Mol Sci. 2023. PMID: 37373495 Free PMC article. Review.
The connexin gene family is the most prevalent gene that contributes to hearing loss. Connexins 26 and 30, encoded by GJB2 and GJB6, respectively, are the most abundantly expressed connexins in the inner ear. ...This review can contribute to a new way of understandi …
The connexin gene family is the most prevalent gene that contributes to hearing loss. Connexins 26 and 30, encoded by GJB2 and …
Unilateral and asymmetric hearing loss in childhood.
Gouveia FN, Jacob-Corteletti LCB, Silva BCS, Araújo ES, Amantini RCB, Oliveira EB, Alvarenga KF. Gouveia FN, et al. Codas. 2020 Jan 27;32(1):e20180280. doi: 10.1590/2317-1782/20192018280. eCollection 2020. Codas. 2020. PMID: 31994593 Free article. English, Portuguese.
The highest risk indicator for hearing loss for both groups was the family history of permanent deafness, which began in childhood. ...CONCLUSION: We observed a greater occurrence of asymmetric bilateral sensorineural hearing loss compare …
The highest risk indicator for hearing loss for both groups was the family history of permanent deafness, which began i …
Genetic etiology of hearing loss in Iran.
Babanejad M, Beheshtian M, Jamshidi F, Mohseni M, Booth KT, Kahrizi K, Najmabadi H. Babanejad M, et al. Hum Genet. 2022 Apr;141(3-4):623-631. doi: 10.1007/s00439-021-02421-w. Epub 2022 Jan 20. Hum Genet. 2022. PMID: 35050400 Review.
Hearing loss (HL) is an etiologically heterogeneous disorder that affects around 5% of the world's population. There has been an exponential increase in the identification of genes and variants responsible for hereditary HL over recent years. Iran, a country …
Hearing loss (HL) is an etiologically heterogeneous disorder that affects around 5% of the world's population. There has been …
Genetic Hearing Loss Affects Cochlear Processing.
Lanting C, Snik A, Leijendeckers J, Bosman A, Pennings R. Lanting C, et al. Genes (Basel). 2022 Oct 22;13(11):1923. doi: 10.3390/genes13111923. Genes (Basel). 2022. PMID: 36360160 Free PMC article.
The relationship between speech recognition and hereditary hearing loss is not straightforward. Underlying genetic defects might determine an impaired cochlear processing of sound. We obtained data from nine groups of patients with a specific type of genetic …
The relationship between speech recognition and hereditary hearing loss is not straightforward. Underlying genetic defe …
Hereditary hearing loss: from human mutation to mechanism.
Lenz DR, Avraham KB. Lenz DR, et al. Hear Res. 2011 Nov;281(1-2):3-10. doi: 10.1016/j.heares.2011.05.021. Epub 2011 Jun 6. Hear Res. 2011. PMID: 21664957 Review.
The genetic heterogeneity of hereditary hearing loss is thus far represented by hundreds of genes encoding a large variety of proteins. ...The discovery of the genes has completely changed the practice of genetic counseling in this area, providing potential d …
The genetic heterogeneity of hereditary hearing loss is thus far represented by hundreds of genes encoding a large vari …
Gene editing in a Myo6 semi-dominant mouse model rescues auditory function.
Xue Y, Hu X, Wang D, Li D, Li Y, Wang F, Huang M, Gu X, Xu Z, Zhou J, Wang J, Chai R, Shen J, Chen ZY, Li GL, Yang H, Li H, Zuo E, Shu Y. Xue Y, et al. Mol Ther. 2022 Jan 5;30(1):105-118. doi: 10.1016/j.ymthe.2021.06.015. Epub 2021 Jun 24. Mol Ther. 2022. PMID: 34174443 Free PMC article.
Pathogenic variants in the human MYO6 gene cause autosomal-dominant or -recessive forms of hearing loss. Effective treatments for Myo6 mutation causing hearing loss are limited. ...These findings provide further reference for in vivo genome editing as …
Pathogenic variants in the human MYO6 gene cause autosomal-dominant or -recessive forms of hearing loss. Effective treatments …
215 results