• 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

Mutations in DZIP1 and XYLT1 are associated with nonsyndromic early onset high myopia in the Korean population.

作者信息

Lee Jong-Keuk, Kim Hyuna, Park Young-Mi, Kim Dae Hee, Lim Hyun Taek

机构信息

a Asan Institute for Life Sciences, University of Ulsan College of Medicine , Seoul , South Korea.

b Department of Ophthalmology , Asan Medical Center, University of Ulsan College of Medicine , Seoul , South Korea.

出版信息

Ophthalmic Genet. 2017 Jul-Aug;38(4):395-397. doi: 10.1080/13816810.2016.1232415. Epub 2017 Jan 13.

DOI:10.1080/13816810.2016.1232415
PMID:28085539
Abstract
摘要

相似文献

1
Mutations in DZIP1 and XYLT1 are associated with nonsyndromic early onset high myopia in the Korean population.DZIP1和XYLT1基因的突变与韩国人群非综合征性早发性高度近视相关。
Ophthalmic Genet. 2017 Jul-Aug;38(4):395-397. doi: 10.1080/13816810.2016.1232415. Epub 2017 Jan 13.
2
Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia.早发性视网膜营养不良、黄斑萎缩、白内障和高度近视患者中的新型C8orf37突变
Ophthalmic Genet. 2016;37(1):68-75. doi: 10.3109/13816810.2014.949380. Epub 2014 Aug 12.
3
Exome sequencing identified null mutations in LOXL3 associated with early-onset high myopia.外显子组测序确定了与早发性高度近视相关的LOXL3基因无效突变。
Mol Vis. 2016 Feb 20;22:161-7. eCollection 2016.
4
A Novel Potentially Causative Variant of NDUFAF7 Revealed by Mutation Screening in a Chinese Family With Pathologic Myopia.在中国一个病理性近视家族中通过突变筛查揭示的一种新的可能致病的 NDUFAF7 变异体。
Invest Ophthalmol Vis Sci. 2017 Aug 1;58(10):4182-4192. doi: 10.1167/iovs.16-20941.
5
Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing.通过全外显子组测序鉴定韩国听力损失家系中的 CDH23 突变。
BMC Med Genet. 2014 Apr 28;15:46. doi: 10.1186/1471-2350-15-46.
6
Expanding the Phenotypic and Genotypic Landscape of Nonsyndromic High Myopia: A Cross-Sectional Study in 731 Chinese Patients.拓展非综合征性高度近视的表型和基因型谱：731 例中国患者的横断面研究。
Invest Ophthalmol Vis Sci. 2019 Sep 3;60(12):4052-4062. doi: 10.1167/iovs.19-27921.
7
Trio-based whole-exome sequencing reveals mutations in early-onset high myopia.基于三核苷酸的全外显子组测序揭示了早发性高度近视中的突变。
BMJ Open Ophthalmol. 2024 May 24;9(1):e001720. doi: 10.1136/bmjophth-2024-001720.
8
Confirming and expanding the phenotypes of variants: Coloboma, inferior chorioretinal hypoplasia, and high myopia.确认并扩展变异体的表型：眼眶缺损、下脉络膜视网膜发育不良和高度近视。
Mol Vis. 2021 Jan 20;27:50-60. eCollection 2021.
9
High myopia-excavated optic disc anomaly associated with a frameshift mutation in the MYC-binding protein 2 gene (MYCBP2).高度近视性视神经盘凹陷异常与MYC结合蛋白2基因（MYCBP2）的移码突变相关。
Am J Ophthalmol. 2015 May;159(5):973-9.e2. doi: 10.1016/j.ajo.2015.01.021. Epub 2015 Jan 26.
10
Unique Variants in OPN1LW Cause Both Syndromic and Nonsyndromic X-Linked High Myopia Mapped to MYP1.视蛋白1长波基因（OPN1LW）中的独特变异导致与综合征性和非综合征性X连锁高度近视相关，定位于近视1型（MYP1）。
Invest Ophthalmol Vis Sci. 2015 Jun;56(6):4150-5. doi: 10.1167/iovs.14-16356.

引用本文的文献

1
18 individual genes underwent variant screening in a northwest Chinese group comprised 83 probands diagnosed with early-onset high myopia.对一个由83名被诊断为早发性高度近视的先证者组成的中国西北人群中的18个个体基因进行了变异筛查。
PLoS One. 2025 Sep 8;20(9):e0329472. doi: 10.1371/journal.pone.0329472. eCollection 2025.
2
Clinical and Molecular Landscape of GLRA2 in X-Linked Early-Onset High Myopia.X连锁早发性高度近视中GLRA2的临床与分子图景
Invest Ophthalmol Vis Sci. 2025 Apr 1;66(4):30. doi: 10.1167/iovs.66.4.30.
3
Whole-exome sequencing screening for candidate genes and potential pathogenic variants associated with early-onset high myopia in 47 Chinese families.
对47个中国家庭进行全外显子组测序，以筛查与早发性高度近视相关的候选基因和潜在致病变异。
Sci Rep. 2025 Apr 2;15(1):11252. doi: 10.1038/s41598-025-95574-x.
4
De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia.ARID1B 基因新生变异导致一个中国早发性高度近视家系患 Coffin-Siris 综合征 1 型
BMC Med Genomics. 2024 May 24;17(1):142. doi: 10.1186/s12920-024-01904-9.
5
Whole-Exome Sequencing Among School-Aged Children With High Myopia.全外显子组测序在学龄期高度近视儿童中的应用。
JAMA Netw Open. 2023 Dec 1;6(12):e2345821. doi: 10.1001/jamanetworkopen.2023.45821.
6
Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families.五个中国家系中与早发性高度近视相关的 X 连锁基因的新型突变。
BMC Med Genomics. 2023 Sep 25;16(1):223. doi: 10.1186/s12920-023-01665-x.
7
Familial Whole Exome Sequencing Study of 30 Families With Early-Onset High Myopia.30 个早发性高度近视家系的全外显子组测序研究。
Invest Ophthalmol Vis Sci. 2023 May 1;64(5):10. doi: 10.1167/iovs.64.5.10.
8
Mutational investigation of 17 causative genes in a cohort of 113 families with nonsyndromic early-onset high myopia in northwestern China.对中国西北部113个非综合征性早发性高度近视家庭队列中的17个致病基因进行突变研究。
Mol Genet Genomics. 2023 May;298(3):669-682. doi: 10.1007/s00438-023-02003-7. Epub 2023 Mar 25.
9
Phenotypic characterization of patients with early-onset high myopia due to mutations in or : Why not Stickler syndrome?因 或 基因突变导致的早发性高度近视患者的表型特征：为何不是斯蒂克勒综合征？
Mol Vis. 2018 Aug 10;24:560-573. eCollection 2018.
10
What is new in CDG?CDG 有哪些新进展？
J Inherit Metab Dis. 2017 Jul;40(4):569-586. doi: 10.1007/s10545-017-0050-6. Epub 2017 May 8.