• 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

Major Contribution of GREB1L Alterations to Severe Inner Ear Malformation Largely in a Non-mendelian Fashion.

作者信息

Kim Bong Jik, Jeon Hyoungwon, Lee Sang-Yeon, Yi Nayoung, Han Jin Hee, Seo Go Hun, Oh Seung-Ha, Choi Byung Yoon

机构信息

Department of Otolaryngology-Head and Neck Surgery, Chungnam National University Sejong Hospital, Chungnam National University College of Medicine, Sejong, Korea.

Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea.

出版信息

Clin Exp Otorhinolaryngol. 2022 Feb;15(1):115-118. doi: 10.21053/ceo.2021.01935. Epub 2022 Jan 12.

DOI:10.21053/ceo.2021.01935
PMID:35012281
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8901951/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/90e1/8901951/d1bfbbc856df/ceo-2021-01935f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/90e1/8901951/d1bfbbc856df/ceo-2021-01935f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/90e1/8901951/d1bfbbc856df/ceo-2021-01935f1.jpg

相似文献

1
Major Contribution of GREB1L Alterations to Severe Inner Ear Malformation Largely in a Non-mendelian Fashion.GREB1L基因改变对严重内耳畸形的主要贡献很大程度上呈现非孟德尔遗传方式。
Clin Exp Otorhinolaryngol. 2022 Feb;15(1):115-118. doi: 10.21053/ceo.2021.01935. Epub 2022 Jan 12.
2
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.GREB1L基因的突变导致人类和小鼠双侧肾缺如。
Am J Hum Genet. 2017 Nov 2;101(5):803-814. doi: 10.1016/j.ajhg.2017.09.026.
3
GREB1L as a candidate gene of Mayer-Rokitansky-Küster-Hauser Syndrome.GREB1L 作为 Mayer-Rokitansky-Küster-Hauser 综合征的候选基因。
Eur J Med Genet. 2021 Mar;64(3):104158. doi: 10.1016/j.ejmg.2021.104158. Epub 2021 Feb 4.
4
[Multi-channel cochlear implantation in patients with congenital inner ear malformation accompanied middle ear malformation].
Lin Chuang Er Bi Yan Hou Ke Za Zhi. 2006 Feb;20(4):151-2.
5
Duplicated internal auditory canal with inner ear malformation: Case report and literature review.重复内耳道伴内耳畸形：病例报告及文献复习
Auris Nasus Larynx. 2018 Apr;45(2):351-357. doi: 10.1016/j.anl.2017.03.019. Epub 2017 Apr 23.
6
[Diagnose of congenital malformation of inner ear by CT and MRI].[CT与MRI对内耳先天性畸形的诊断]
Lin Chuang Er Bi Yan Hou Ke Za Zhi. 2001 Jul;15(7):300-1.
7
[Study on 2,747 cases of inner ear malformation for its classification in patient with sensorineural hearing loss].[2747例感音神经性听力损失患者内耳畸形分类研究]
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2015 Jan;29(1):45-7.
8
[Meta-analysis of the efficacy of cochlear implantation in deaf patients with inner ear malformation].[人工耳蜗植入治疗内耳畸形聋患者疗效的Meta分析]
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2014 Apr;29(8):743-7.
9
Cochlear implantation in children with inner ear malformation: A multicenter study on auditory performance and speech production outcomes.内耳畸形儿童的人工耳蜗植入：听觉表现和言语产生结果的多中心研究。
Int J Pediatr Otorhinolaryngol. 2020 May;132:109901. doi: 10.1016/j.ijporl.2020.109901. Epub 2020 Jan 22.
10
GREB1L overexpression correlates with prognosis and immune cell infiltration in lung adenocarcinoma.GREB1L 过表达与肺腺癌的预后和免疫细胞浸润相关。
Sci Rep. 2021 Jun 24;11(1):13281. doi: 10.1038/s41598-021-92695-x.

引用本文的文献

1
Impact of HOMER2 frameshift extension variant on auditory function and development.HOMER2移码延伸变异对听觉功能和发育的影响。
J Mol Med (Berl). 2025 Aug;103(8):975-987. doi: 10.1007/s00109-025-02556-7. Epub 2025 Jun 14.
2
Human organoids for rapid validation of gene variants linked to cochlear malformations.用于快速验证与耳蜗畸形相关基因变异的人类类器官
Hum Genet. 2025 Apr;144(4):375-389. doi: 10.1007/s00439-024-02723-9. Epub 2025 Jan 9.
3
Correlation between the etiology of severe hearing loss and endolymphatic hydrops.

本文引用的文献

1
CADD-Splice-improving genome-wide variant effect prediction using deep learning-derived splice scores.使用深度学习衍生的剪接分数提高 CADD-Splice 全基因组变异效应预测。
Genome Med. 2021 Feb 22;13(1):31. doi: 10.1186/s13073-021-00835-9.
2
GREB1L as a candidate gene of Mayer-Rokitansky-Küster-Hauser Syndrome.GREB1L 作为 Mayer-Rokitansky-Küster-Hauser 综合征的候选基因。
Eur J Med Genet. 2021 Mar;64(3):104158. doi: 10.1016/j.ejmg.2021.104158. Epub 2021 Feb 4.
3
Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment.
重度听力损失的病因与内淋巴积水之间的相关性。
Eur Arch Otorhinolaryngol. 2025 Feb;282(2):781-787. doi: 10.1007/s00405-024-08993-3. Epub 2024 Oct 7.
4
Human Organoids for Rapid Validation of Gene Variants Linked to Cochlear Malformations.用于快速验证与耳蜗畸形相关基因变异的人类类器官
Res Sq. 2024 Jun 11:rs.3.rs-4474071. doi: 10.21203/rs.3.rs-4474071/v1.
5
Clinical characteristics and hearing loss etiology of cochlear implantees undergoing surgery in their teens, 20s, and 30s.青少年、20 多岁和 30 多岁接受耳蜗植入手术的患者的临床特征和听力损失病因。
Eur Arch Otorhinolaryngol. 2024 Oct;281(10):5169-5177. doi: 10.1007/s00405-024-08737-3. Epub 2024 May 27.
6
The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease.与 GREB1L 相关的人类疾病谱可能包括复杂的先天性心脏病。
Prenat Diagn. 2024 Mar;44(3):343-351. doi: 10.1002/pd.6527. Epub 2024 Jan 29.
7
A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana.一个与加纳非综合征型听力损失相关的新型常染色体显性 GREB1L 变异。
BMC Med Genomics. 2022 Nov 10;15(1):237. doi: 10.1186/s12920-022-01391-w.
8
How to Maximize the Outcomes of Cochlear Implantation in Common Cavity and Cochlear Aplasia With Dilated Vestibule, the Most Severe Inner Ear Anomalies?如何在共同腔和伴有前庭扩张的耳蜗发育不全（最严重的内耳异常）中使人工耳蜗植入的效果最大化？
Clin Exp Otorhinolaryngol. 2022 Feb;15(1):3-4. doi: 10.21053/ceo.2022.00164. Epub 2022 Feb 15.
常染色体显性遗传 GREB1L 变异与重度感音神经性听力损失个体。
Genes (Basel). 2020 Jun 23;11(6):687. doi: 10.3390/genes11060687.
4
The mutational constraint spectrum quantified from variation in 141,456 humans.从 141456 名人类个体的变异中量化的突变约束谱。
Nature. 2020 May;581(7809):434-443. doi: 10.1038/s41586-020-2308-7. Epub 2020 May 27.
5
KRGDB: the large-scale variant database of 1722 Koreans based on whole genome sequencing.KRGDB：基于全基因组测序的1722名韩国人的大规模变异数据库。
Database (Oxford). 2020 Jan 1;2020. doi: 10.1093/database/baaa030.
6
Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach.重大孟德尔遗传因素对儿童轻度至中度听力损失的影响及其综合诊断方法。
Genet Med. 2020 Jun;22(6):1119-1128. doi: 10.1038/s41436-020-0774-9. Epub 2020 Mar 17.
7
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.遗传听力损失 ACMG/AMP 变异解读指南的专家规范
Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630.
8
De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness.GREB1L 中的新生变异与非综合征性内耳畸形和耳聋有关。
Hum Genet. 2018 Jul;137(6-7):459-470. doi: 10.1007/s00439-018-1898-8. Epub 2018 Jun 28.
9
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.GREB1L基因的突变导致人类和小鼠双侧肾缺如。
Am J Hum Genet. 2017 Nov 2;101(5):803-814. doi: 10.1016/j.ajhg.2017.09.026.
10
Classification and Current Management of Inner Ear Malformations.内耳畸形的分类及当前管理。
Balkan Med J. 2017 Sep 29;34(5):397-411. doi: 10.4274/balkanmedj.2017.0367. Epub 2017 Aug 25.