Updates on Genetic Hearing Loss: From Diagnosis to Targeted Therapies

키워드

참고문헌 (56)

1. Petit C, "Deafness : from genetic architecture to gene therapy", Nat Rev Genet, 24, pp.665~686 (2023)
2. Lee SY, "Novel molecular genetic etiology of asymmetric hearing loss : autosomal-dominant LMX1A variants", Ear Hear, 43, pp.1698~1707 (2022)
3. Delmaghani S, "Inner ear gene therapies take off : current promises and future challenges", J Clin Med, 9, pp.2309~ (2020)
4. Bussé AML, "Prevalence of permanent neonatal hearing impairment : systematic review and Bayesian meta-analysis", Int J Audiol, 59, pp.475~485 (2020)
5. Morton CC, "Newborn hearing screening--a silent revolution", N Engl J Med, 354, pp.2151~2164 (2006)
6. "Deafness and hearing loss" (2024)[URL]
7. Olivetto E, "Sensorineural hearing loss and ischemic injury : development of animal models to assess vascular and oxidative effects", Hear Res, 327, pp.58~68 (2015)
8. Kim BJ, "Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach", Genet Med, 22, pp.1119~1128 (2020)
9. Brownstein Z, "High-throughput sequencing to decipher the genetic heterogeneity of deafness", Genome Biol, 13, pp.245~ (2012)
10. Gettelfinger JD, "Syndromic hearing loss : a brief review of common presentations and genetics", J Pediatr Genet, 7, pp.1~8 (2018)
11. Avraham KB, "Mouse models for deafness : lessons for the human inner ear and hearing loss", Ear Hear, 24, pp.332~341 (2003)
12. Sun Y, "Increased diagnostic yield by reanalysis of data from a hearing loss gene panel", BMC Med Genomics, 12, pp.76~ (2019)
13. Yan D, "Next-generation sequencing in genetic hearing loss", Genet Test Mol Biomarkers, 17, pp.581~587 (2013)
14. Shearer AE, "Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing", Proc Natl Acad Sci U S A, 107, pp.21104~21109 (2010)
15. Tang W, "A lowcost exon capture method suitable for large-scale screening of genetic deafness by the massively-parallel sequencing approach", Genet Test Mol Biomarkers, 16, pp.536~542 (2012)
16. Liao EN, "Outcomes of gene panel testing for sensorineural hearing loss in a diverse patient cohort", JAMA Netw Open, 5, pp.e2233441~ (2022)
17. Ewans LJ, "Whole exome and genome sequencing in Mendelian disorders : a diagnostic and health economic analysis", Eur J Hum Genet, 30, pp.1121~1131 (2022)
18. McDermott JH, "Diagnosing and preventing hearing loss in the genomic age", Trends Hear, 23, pp.2331216519878983~ (2019)
19. Vambutas A, "AAO : autoimmune and autoinflammatory(disease)in otology : what is new in immune-mediated hearing loss", Laryngoscope Investig Otolaryngol, 1, pp.110~115 (2016)
20. Nakanishi H, "NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy", Proc Natl Acad Sci U S A, 114, pp.E7766~E7775 (2017)
21. Swanson KV, "The NLRP3 inflammasome : molecular activation and regulation to therapeutics", Nat Rev Immunol, 19, pp.477~489 (2019)
22. Coll RC, "Questions and controversies in innate immune research : what is the physiological role of NLRP3?", Cell Death Discov, 2, pp.16019~ (2016)
23. Kim Y, "Auditory phenotype and histopathologic findings of a mutant Nlrp3 expression mouse model", Front Neurol, 13, pp.890256~ (2022)
24. Kelley N, "The NLRP3 inflammasome : an overview of mechanisms of activation and regulation", Int J Mol Sci, 20, pp.3328~ (2019)
25. Kim BJ, "Otological aspects of NLRP3-related autoinflammatory disorder focusing on the responsiveness to anakinra", Rheumatology(Oxford), 60, pp.1523~1532 (2021)
26. Kuemmerle-Deschner JB, "Efficacy and safety of anakinra therapy in pediatric and adult patients with the autoinflammatory Muckle-Wells syndrome", Arthritis Rheum, 63, pp.840~849 (2011)
27. Sibley CH, "Sustained response and prevention of damage progression in patients with neonatal-onset multisystem inflammatory disease treated with anakinra : a cohort study to determine three-and five-year outcomes", Arthritis Rheum, 64, pp.2375~2386 (2012)
28. Wang T, "OSBPL2 is required for the binding of COPB1 to ATGL and the regulation of lipid droplet lipolysis", iScience, 23, pp.101252~ (2020)
29. Wang H, "Deletion of OSBPL2in auditory cells increases cholesterol biosynthesis and drives reactive oxygen species production by inhibiting AMPK activity", Cell Death Dis, 10, pp.627~ (2019)
30. Thoenes M, "OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss(DFNA67)", Orphanet J Rare Dis, 10, pp.15~ (2015)
31. Koh YI, "OSBPL2 mutations impair autophagy and lead to hearing loss, potentially remedied by rapamycin", Autophagy, 18, pp.2593~2614 (2022)
32. Jiang L, "Advances in gene therapy hold promise for treating hereditary hearing loss", Mol Ther, 31, pp.934~950 (2023)
33. Hahn R, "Gene therapy for inherited hearing loss : updates and remaining challenges", Audiol Res, 13, pp.952~966 (2023)
34. Akil O, "Dual AAV-mediated gene therapy restores hearing in a DFNB9 mouse model", Proc Natl Acad Sci U S A, 116, pp.4496~4501 (2019)
35. Lee SY, "Central auditory maturation and behavioral outcomes after cochlear implantation in prelingual auditory neuropathy spectrum disorder related to OTOF variants(DFNB9) : lessons from pilot study", PLoS One, 16, pp.e0252717~ (2021)
36. Roux I, "Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse", Cell, 127, pp.277~289 (2006)
37. Al-Moyed H, "A dual-AAV approach restores fast exocytosis and partially rescues auditory function in deaf otoferlin knock-out mice", EMBO Mol Med, 11, pp.e9396~ (2019)
38. Qi J, "Preclinical efficacy and safety evaluation of AAV-OTOF in DFNB9 mouse model and nonhuman primate", Adv Sci(Weinh), 11, pp.e2306201~ (2024)
39. Tang H, "Hearing of Otofdeficient mice restored by trans-splicing of N-and C-terminal otoferlin", Hum Genet, 142, pp.289~304 (2023)
40. Zhang L, "Preclinical evaluation of the efficacy and safety of AAV1-hOTOF in mice and nonhuman primates", Mol Ther Methods Clin Dev, 31, pp.101154~ (2023)
41. Qi J, "AAV-mediated gene therapy restores hearing in patients with DFNB9 deafness", Adv Sci(Weinh), 11, pp.e2306788~ (2024)
42. Lv J, "AAV1-hOTOF gene therapy for autosomal recessive deafness 9: a single-arm trial", Lancet (2024)[DOI]
43. Cong L, "Multiplex genome engineering using CRISPR", Cas systems, 2013, pp.339, 819~823
44. Gao X, "Treatment of autosomal dominant hearing loss by in vivo delivery of genome editing agents", Nature, 553, pp.217~221 (2018)
45. Noh B, "In vivo outer hair cell gene editing ameliorates progressive hearing loss in dominant-negative Kcnq4 murine model", Theranostics, 12, pp.2465~2482 (2022)
46. Xue Y, "Gene editing in a Myo6semi-dominant mouse model rescues auditory function", Mol Ther, 30, pp.105~118 (2022)
47. Cui C, "Precise detection of CRISPR-Cas9 editing in hair cells in the treatment of autosomal dominant hearing loss", Mol Ther Nucleic Acids, 29, pp.400~412 (2022)
48. Frangoul H, "CRISPR-Cas9 gene editing for sickle cell disease and β-thalassemia", N Engl J Med, 384, pp.252~260 (2021)
49. Liu M, "Global detection of DNA repair outcomes induced by CRISPR-Cas9", Nucleic Acids Res, 49, pp.8732~8742 (2021)
50. Haapaniemi E, "CRISPRCas9genome editing induces a p53-mediated DNA damage response", Nat Med, 24, pp.927~930 (2018)
51. Cullot G, "CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations", Nat Commun, 10, pp.1136~ (2019)
52. Porto EM, "Base editing : advances and therapeutic opportunities", Nat Rev Drug Discov, 19, pp.839~859 (2020)
53. Anzalone AV, "Search-and-replace genome editing without double-strand breaks or donor DNA", Nature, 576, pp.149~157 (2019)
54. Yeh WH, "In vivo base editing restores sensory transduction and transiently improves auditory function in a mouse model of recessive deafness", Sci Transl Med, 12, pp.eaay9101~ (2020)
55. Choudhary D, "Structural determinants of protocadherin-15 mechanics and function in hearing and balance perception", Proc Natl Acad Sci U S A, 117, pp.24837~24848 (2020)
56. Peters CW, "Rescue of hearing by adenine base editing in a humanized mouse model of Usher syndrome type 1F", Mol Ther, 31, pp.2439~2453 (2023)

관련 논문AI추천