• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

The genetics of otosclerosis: a review.

作者信息

Gordon M A

机构信息

Dept. of Otorhinolaryngology, Montefiore Medical Center, Bronx, NY 10467.

出版信息

Am J Otol. 1989 Nov;10(6):426-38. doi: 10.1097/00129492-198911000-00003.

DOI:10.1097/00129492-198911000-00003
PMID:2692453
Abstract

Otosclerosis is a heritable disease affecting the otic capsule. Its genetics have been studied, but remain incompletely elucidated. Presented is a detailed analysis of the literature pertaining to the mode of inheritance and epidemiology of clinical and histologic otosclerosis. Consideration is given to connective tissue abnormalities found in association with the disease. The hypothesis that otosclerosis is an isolated manifestation of a generalized connective tissue disorder is discussed. The author also suggests that otosclerosis, rather than being a discrete entity, may represent a heterogeneous group of diseases.

摘要

相似文献

1
The genetics of otosclerosis: a review.
Am J Otol. 1989 Nov;10(6):426-38. doi: 10.1097/00129492-198911000-00003.
2
A new locus for otosclerosis, OTSC8, maps to the pericentromeric region of chromosome 9.耳硬化症的一个新基因座OTSC8定位于9号染色体的着丝粒周围区域。
Hum Genet. 2008 Apr;123(3):267-72. doi: 10.1007/s00439-008-0470-3. Epub 2008 Jan 26.
3
Genetics of otosclerosis.耳硬化症的遗传学。
Otol Neurotol. 2009 Dec;30(8):1021-32. doi: 10.1097/MAO.0b013e3181a86509.
4
A review on the genetics of otosclerosis.耳硬化症遗传学综述。
Clin Otolaryngol. 2007 Aug;32(4):239-47. doi: 10.1111/j.1365-2273.2007.01475.x.
5
Linkage of otosclerosis to a third locus (OTSC3) on human chromosome 6p21.3-22.3.耳硬化症与人类6号染色体6p21.3 - 22.3上的第三个基因座(OTSC3)的连锁关系。
J Med Genet. 2002 Jul;39(7):473-7. doi: 10.1136/jmg.39.7.473.
6
The aetiology of otosclerosis: a review of the literature.耳硬化症的病因学:文献综述
Clin Otolaryngol Allied Sci. 2003 Apr;28(2):112-20. doi: 10.1046/j.1365-2273.2003.00675.x.
7
The incidence of otosclerosis in the general population.
Isr J Med Sci. 1975 May;11(5):465-8.
8
COL1A1 association and otosclerosis: a meta-analysis.COL1A1 与耳硬化症的相关性:一项荟萃分析。
Am J Med Genet A. 2012 May;158A(5):1066-70. doi: 10.1002/ajmg.a.35276. Epub 2012 Apr 9.
9
A genetic study of otosclerosis in a population living in the north of Tunisia.
Ann Genet. 1993;36(2):111-6.
10
Lack of association between SNP rs3914132 of the RELN gene and otosclerosis in India.RELN基因单核苷酸多态性rs3914132与印度耳硬化症之间无关联。
Genet Mol Res. 2010 Sep 28;9(3):1914-20. doi: 10.4238/vol9-3gmr890.

引用本文的文献

1
A White Spot Around the Fissula Ante Fenestrum: A New Diagnostic Indicator for Otosclerosis.窗前裂周围的白色斑点:耳硬化症的一种新诊断指标。
J Clin Med. 2025 Jan 30;14(3):913. doi: 10.3390/jcm14030913.
2
Dynamic Molecular Markers of Otosclerosis in the Human Cochlea.人类耳蜗耳硬化症的动态分子标志物。
Ann Otol Rhinol Laryngol. 2024 Apr;133(4):390-399. doi: 10.1177/00034894231225134. Epub 2024 Jan 10.
3
Comparative study of the sensitivity of ultra-high-resolution CT and high-resolution CT in the diagnosis of isolated fenestral otosclerosis.
超高分辨率CT与高分辨率CT诊断孤立性镫骨足板耳硬化症敏感性的对比研究
Insights Imaging. 2023 Nov 28;14(1):211. doi: 10.1186/s13244-023-01562-y.
4
mutation causes human otosclerosis and a similar phenotype in mice.突变导致人类耳硬化症和小鼠的类似表型。
J Med Genet. 2024 Jan 19;61(2):117-124. doi: 10.1136/jmg-2023-109264.
5
Genetic Association of rs1021188 and DNA Methylation Signatures of in the Risk of Conductive Hearing Loss.rs1021188的基因关联及DNA甲基化特征与传导性听力损失风险的关系
Front Med (Lausanne). 2022 Apr 18;9:870244. doi: 10.3389/fmed.2022.870244. eCollection 2022.
6
Update from the 5th Edition of the World Health Organization Classification of Head and Neck Tumours: Tumours of the Ear.世界卫生组织头颈部肿瘤分类第五版更新:耳部肿瘤。
Head Neck Pathol. 2022 Mar;16(1):76-86. doi: 10.1007/s12105-022-01450-9. Epub 2022 Apr 9.
7
Genetics of otosclerosis: finally catching up with other complex traits?耳硬化症的遗传学:终于要赶上其他复杂性状了吗?
Hum Genet. 2022 Apr;141(3-4):939-950. doi: 10.1007/s00439-021-02357-1. Epub 2021 Sep 9.
8
A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis.聚集蛋白聚糖中广泛的保护性和易感性变异影响耳硬化症的易感性。
Hum Genet. 2022 Apr;141(3-4):951-963. doi: 10.1007/s00439-021-02334-8. Epub 2021 Aug 19.
9
Insufficient evidence for a role of SERPINF1 in otosclerosis.尚无足够证据表明 SERPINF1 在耳硬化症中的作用。
Mol Genet Genomics. 2019 Aug;294(4):1001-1006. doi: 10.1007/s00438-019-01558-8. Epub 2019 Apr 9.
10
The Epidemiology of Otosclerosis in a British Cohort.英国队列中耳硬化症的流行病学。
Otol Neurotol. 2019 Jan;40(1):22-30. doi: 10.1097/MAO.0000000000002047.