文献检索文档翻译深度研究
Suppr Zotero 插件Zotero 插件
邀请有礼套餐&价格历史记录

新学期，新优惠

限时优惠:9月1日-9月22日

30天高级会员仅需29元

1天体验卡首发特惠仅需5.99元

了解详情
不再提醒
插件&应用
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
高级版
套餐订阅购买积分包
AI 工具
文献检索文档翻译深度研究
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 @ 2025

STN1基因的突变会导致科茨加综合征，并与基因组和端粒缺陷相关。

Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.

作者信息

Simon Amos J, Lev Atar, Zhang Yong, Weiss Batia, Rylova Anna, Eyal Eran, Kol Nitzan, Barel Ortal, Cesarkas Keren, Soudack Michalle, Greenberg-Kushnir Noa, Rhodes Michele, Wiest David L, Schiby Ginette, Barshack Iris, Katz Shulamit, Pras Elon, Poran Hana, Reznik-Wolf Haike, Ribakovsky Elena, Simon Carlos, Hazou Wadi, Sidi Yechezkel, Lahad Avishay, Katzir Hagar, Sagie Shira, Aqeilan Haifa A, Glousker Galina, Amariglio Ninette, Tzfati Yehuda, Selig Sara, Rechavi Gideon, Somech Raz

机构信息

Pediatric Department A and Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel Division of Haematology and Bone Marrow Transplantation, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.

Pediatric Department A and Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.

出版信息

J Exp Med. 2016 Jul 25;213(8):1429-40. doi: 10.1084/jem.20151618. Epub 2016 Jul 18.

DOI:10.1084/jem.20151618
PMID:27432940
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4986528/
Abstract

The analysis of individuals with telomere defects may shed light on the delicate interplay of factors controlling genome stability, premature aging, and cancer. We herein describe two Coats plus patients with telomere and genomic defects; both harbor distinct, novel mutations in STN1, a member of the human CTC1-STN1-TEN1 (CST) complex, thus linking this gene for the first time to a human telomeropathy. We characterized the patients' phenotype, recapitulated it in a zebrafish model and rescued cellular and clinical aspects by the ectopic expression of wild-type STN1 or by thalidomide treatment. Interestingly, a significant lengthy control of the gastrointestinal bleeding in one of our patients was achieved by thalidomide treatment, exemplifying a successful bed-to-bench-and-back approach.

摘要

对端粒缺陷个体的分析可能有助于揭示控制基因组稳定性、早衰和癌症的因素之间微妙的相互作用。我们在此描述了两名患有科茨综合征且伴有端粒和基因组缺陷的患者；两人均在人类CTC1-STN1-TEN1（CST）复合体成员STN1中携带独特的新突变，从而首次将该基因与一种人类端粒病联系起来。我们对患者的表型进行了特征描述，在斑马鱼模型中进行了重现，并通过野生型STN1的异位表达或沙利度胺治疗挽救了细胞和临床方面的问题。有趣的是，我们的一名患者通过沙利度胺治疗实现了对胃肠道出血的显著长期控制，例证了一种成功的从病床到实验室再回到病床的方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b390/4986528/af05c4429515/JEM_20151618_Fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b390/4986528/f2d46456f754/JEM_20151618_Fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b390/4986528/c58173678346/JEM_20151618_Fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b390/4986528/af05c4429515/JEM_20151618_Fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b390/4986528/f2d46456f754/JEM_20151618_Fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b390/4986528/c58173678346/JEM_20151618_Fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b390/4986528/af05c4429515/JEM_20151618_Fig3.jpg

相似文献

[1]
Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.

J Exp Med. 2016-7-25

[2]
An Indian child with Coats plus syndrome due to mutations in STN1.

Am J Med Genet A. 2020-9

[3]
Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation.

BMC Med Genet. 2015-2-10

[4]
Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus.

Aging Cell. 2013-9-4

[5]
Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome.

Mol Genet Genomic Med. 2021-12

[6]
Novel biallelic missense mutations in CTC1 gene identified in a Chinese family with Coats plus syndrome.

J Neurol Sci. 2017-9-30

[7]
Ophthalmic findings and a novel CTC1 gene mutation in coats plus syndrome: a case report.

Ophthalmic Genet. 2021-2

[8]
A unique case of coats plus syndrome and dyskeratosis congenita in a patient with CTC1 mutations.

Ophthalmic Genet. 2020-8

[9]
Molecular basis of telomere syndrome caused by CTC1 mutations.

Genes Dev. 2013-10-1

[10]
A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus.

Genes Dev. 2016-4-1

引用本文的文献

[1]
STN1 facilitates metastasis by promoting transcription of EMT-activator ZEB1 in pancreatic cancer.

Nat Commun. 2025-8-21

[2]
Polygenic modifiers impact penetrance and expressivity in telomere biology disorders.

J Clin Invest. 2025-6-3

[3]
Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita.

Sci Adv. 2025-4-11

[4]
Disruption of the moonlighting function of CTF18 in a patient with T-lymphopenia.

Front Immunol. 2025-2-14

[5]
Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder.

Eur J Hum Genet. 2025-5

[6]
Telomere function and regulation from mouse models to human ageing and disease.

Nat Rev Mol Cell Biol. 2025-4

[7]
Improvement in Cystoid Macular Edema Secondary to Systemic Bevacizumab in a Patient With Coats Plus Syndrome.

J Vitreoretin Dis. 2024-9-14

[8]
G-quadruplex DNA and RNA in cellular senescence.

Front Aging. 2024-10-9

[9]
Inherited Telomere Biology Disorders: Pathophysiology, Clinical Presentation, Diagnostics, and Treatment.

Transfus Med Hemother. 2024-7-30

[10]
Identification of Genetic Loci Associated With Intracerebral Hemorrhage Using a Multitrait Analysis Approach.

Neurology. 2024-10-22

本文引用的文献

[1]
Stn1 is critical for telomere maintenance and long-term viability of somatic human cells.

Aging Cell. 2015-6

[2]
Bone marrow failure and the telomeropathies.

Blood. 2014-9-18

[3]
Cell biology of disease: Telomeropathies: an emerging spectrum disorder.

J Cell Biol. 2014-5-12

[4]
Induced pluripotent stem cells as a model for telomeric abnormalities in ICF type I syndrome.

Hum Mol Genet. 2014-7-15

[5]
Human TEN1 maintains telomere integrity and functions in genome-wide replication restart.

J Biol Chem. 2013-9-11

[6]
Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus.

Aging Cell. 2013-9-4

[7]
Pomalidomide is nonteratogenic in chicken and zebrafish embryos and nonneurotoxic in vitro.

Proc Natl Acad Sci U S A. 2013-7-15

[8]
CST for the grand finale of telomere replication.

Nucleus. 2013-7-10

[9]
Structure of the human telomeric Stn1-Ten1 capping complex.

PLoS One. 2013-6-24

[10]
A congenital neutrophil defect syndrome associated with mutations in VPS45.

N Engl J Med. 2013-6-5

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

推荐工具

医学文档翻译智能文献检索