• 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

不同遗传背景的Tg-MYOCY437H小鼠未患青光眼。

Absence of Glaucoma in Tg-MYOCY437H Mice of Diverse Genetic Backgrounds.

作者信息

Tolman Nicholas G, Simón Marina, Juarez Felicia A, Zhang Chi, Hristova Zhivka I, Ouellette Tionna B, Sellarole Michael A, deVries Wilhelmine N, Montgomery Christa, John Simon W M

机构信息

Department of Ophthalmology, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, New York, United States.

The Jackson Laboratory, Bar Harbor, Maine, United States.

出版信息

Invest Ophthalmol Vis Sci. 2025 Sep 2;66(12):40. doi: 10.1167/iovs.66.12.40.

DOI:10.1167/iovs.66.12.40
PMID:40965407
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12449821/
Abstract

PURPOSE

Mutations in the myocilin (MYOC) gene cause elevated intraocular pressure and glaucoma. To better understand the factors influencing susceptibility to glaucoma, we studied the MYOC mutation (MYOCY437H).

METHODS

We characterized ocular phenotypes in Tg-MYOCY437H mice on nine different mouse strain backgrounds.

RESULTS

No glaucoma-related phenotypes were observed. We detected neither elevated intraocular pressure (daytime readings) nor optic nerve degeneration differences between wild type (WT) and Tg-MYOCY437H mice. This included an absence of Tg-MYOCY437H-induced phenotypes on a mixed B6SJL background that best reflected the original publications with this strain. We confirmed that this result was not due to an absence of transgene expression in ocular tissues.

CONCLUSIONS

Our data indicate undefined complexity and that the previously reported glaucoma phenotypes are not robust across all institutions and environments.

摘要

目的

肌纤蛋白(MYOC)基因突变会导致眼压升高和青光眼。为了更好地了解影响青光眼易感性的因素,我们研究了MYOC突变(MYOCY437H)。

方法

我们对九种不同小鼠品系背景下的Tg-MYOCY437H小鼠的眼部表型进行了特征描述。

结果

未观察到与青光眼相关的表型。我们在野生型(WT)和Tg-MYOCY437H小鼠之间未检测到眼压升高(日间读数)或视神经变性差异。这包括在混合B6SJL背景上未出现Tg-MYOCY437H诱导的表型,该背景最能反映该品系的原始文献。我们证实这一结果并非由于眼部组织中缺乏转基因表达。

结论

我们的数据表明存在未明确的复杂性,并且先前报道的青光眼表型在所有机构和环境中并不稳定。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eae9/12449821/efc5269e556c/iovs-66-12-40-f002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eae9/12449821/669a2da3c685/iovs-66-12-40-f001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eae9/12449821/efc5269e556c/iovs-66-12-40-f002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eae9/12449821/669a2da3c685/iovs-66-12-40-f001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eae9/12449821/efc5269e556c/iovs-66-12-40-f002.jpg

相似文献

1
Absence of Glaucoma in Tg-MYOCY437H Mice of Diverse Genetic Backgrounds.不同遗传背景的Tg-MYOCY437H小鼠未患青光眼。
Invest Ophthalmol Vis Sci. 2025 Sep 2;66(12):40. doi: 10.1167/iovs.66.12.40.
2
Expression of Mutant Myocilin Induces Abnormal Intracellular Accumulation of Selected Extracellular Matrix Proteins in the Trabecular Meshwork.突变型肌纤蛋白的表达诱导小梁网中特定细胞外基质蛋白的异常细胞内积聚。
Invest Ophthalmol Vis Sci. 2016 Nov 1;57(14):6058-6069. doi: 10.1167/iovs.16-19610.
3
Gonioscopy-Assisted Transluminal Trabeculotomy for Myocilin-Associated Juvenile Open-Angle Glaucoma: A Case Series of 8 Eyes Over 2.2 to 4.1 Years.房角镜辅助经腔小梁切开术治疗与肌纤凝蛋白相关的青少年开角型青光眼:2.2至4.1年期间8只眼的病例系列
Ophthalmol Glaucoma. 2025 Apr 4. doi: 10.1016/j.ogla.2025.03.011.
4
Lentiviral mediated delivery of CRISPR/Cas9 reduces intraocular pressure in a mouse model of myocilin glaucoma.慢病毒介导的 CRISPR/Cas9 传递降低了肌球蛋白青光眼小鼠模型中的眼内压。
Sci Rep. 2024 Mar 23;14(1):6958. doi: 10.1038/s41598-024-57286-6.
5
Prevalence of Myocilin Mutations in a Cohort of Patients with Juvenile Open-Angle Glaucoma from sub-Saharan Africa.撒哈拉以南非洲青少年开角型青光眼患者队列中肌纤蛋白突变的患病率
Ophthalmol Glaucoma. 2025 Apr 23. doi: 10.1016/j.ogla.2025.04.010.
6
Myocilin Mutation N480K Leads to Early Onset Juvenile and Adult-onset Primary Open Angle Glaucoma in a Six Generation Family.N480K 肌球蛋白突变导致六代家族中青少年和成年起病的原发性开角型青光眼。
J Glaucoma. 2024 Mar 1;33(3):218-224. doi: 10.1097/IJG.0000000000002286. Epub 2023 Aug 7.
7
Characteristics of p.Gln368Ter Myocilin Variant and Influence of Polygenic Risk on Glaucoma Penetrance in the UK Biobank.英国生物银行中p.Gln368Ter肌纤蛋白变体的特征及多基因风险对青光眼外显率的影响
Ophthalmology. 2021 Sep;128(9):1300-1311. doi: 10.1016/j.ophtha.2021.03.007. Epub 2021 Mar 10.
8
Perioperative medications for preventing temporarily increased intraocular pressure after laser trabeculoplasty.用于预防激光小梁成形术后眼压暂时升高的围手术期药物。
Cochrane Database Syst Rev. 2017 Feb 23;2(2):CD010746. doi: 10.1002/14651858.CD010746.pub2.
9
Mutated myocilin and heterozygous Sod2 deficiency act synergistically in a mouse model of open-angle glaucoma.突变的肌纤蛋白和杂合的Sod2缺陷在开角型青光眼小鼠模型中协同作用。
Hum Mol Genet. 2015 Jun 15;24(12):3322-34. doi: 10.1093/hmg/ddv082. Epub 2015 Mar 3.
10
Peripheral iridotomy for pigmentary glaucoma.色素性青光眼的周边虹膜切开术
Cochrane Database Syst Rev. 2016 Feb 12;2(2):CD005655. doi: 10.1002/14651858.CD005655.pub2.

本文引用的文献

1
Magnetically steered cell therapy for reduction of intraocular pressure as a treatment strategy for open-angle glaucoma.磁导向细胞疗法降低眼压作为开角型青光眼的一种治疗策略。
Elife. 2025 Jul 7;13:RP103256. doi: 10.7554/eLife.103256.
2
Myocilin misfolding and glaucoma: A 20-year update.肌球蛋白错误折叠与青光眼:20 年的最新进展。
Prog Retin Eye Res. 2023 Jul;95:101188. doi: 10.1016/j.preteyeres.2023.101188. Epub 2023 May 20.
3
Myocilin-associated Glaucoma: A Historical Perspective and Recent Research Progress.原发性开角型青光眼的历史与最新研究进展。
Mol Vis. 2021 Aug 20;27:480-493. eCollection 2021.
4
Genetic background modifies vulnerability to glaucoma-related phenotypes in mutant mice.遗传背景改变了 突变小鼠对青光眼相关表型的易感性。
Dis Model Mech. 2021 Feb 19;14(2):dmm046953. doi: 10.1242/dmm.046953.
5
Changes of Ocular Dimensions as a Marker of Disease Progression in a Murine Model of Pigmentary Glaucoma.眼部尺寸变化作为色素性青光眼小鼠模型疾病进展的标志物
Front Pharmacol. 2020 Sep 4;11:573238. doi: 10.3389/fphar.2020.573238. eCollection 2020.
6
The trabecular meshwork: Structure, function and clinical implications. A review of the literature.小梁网:结构、功能及临床意义。文献综述
J Fr Ophtalmol. 2020 Sep;43(7):e217-e230. doi: 10.1016/j.jfo.2020.05.002. Epub 2020 Jun 16.
7
The Role of Lung and Gut Microbiota in the Pathology of Asthma.肺部和肠道微生物群在哮喘发病机制中的作用。
Immunity. 2020 Feb 18;52(2):241-255. doi: 10.1016/j.immuni.2020.01.007.
8
Binding of a glaucoma-associated myocilin variant to the αB-crystallin chaperone impedes protein clearance in trabecular meshwork cells.青光眼相关肌球蛋白变异体与 αB-晶体蛋白伴侣的结合抑制了小梁细胞中的蛋白清除。
J Biol Chem. 2018 Dec 28;293(52):20137-20156. doi: 10.1074/jbc.RA118.004325. Epub 2018 Nov 2.
9
Age-related Changes in Eye, Brain and Visuomotor Behavior in the DBA/2J Mouse Model of Chronic Glaucoma.年龄相关的眼睛、大脑和视动行为变化在慢性青光眼的 DBA/2J 小鼠模型中。
Sci Rep. 2018 Mar 15;8(1):4643. doi: 10.1038/s41598-018-22850-4.
10
A Histologic Categorization of Aqueous Outflow Routes in Familial Open-Angle Glaucoma and Associations With Mutations in the MYOC Gene in Japanese Patients.日本患者家族性开角型青光眼房水流出途径的组织学分类及其与MYOC基因突变的关联
Invest Ophthalmol Vis Sci. 2017 May 1;58(5):2818-2831. doi: 10.1167/iovs.16-20646.