• 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

Fibrinogen A Alpha-Chain Amyloidosis Associated With a Novel Variant in a Chinese Family.

作者信息

Jin Shi, Shen Ziyan, Li Jie, Lin Pan, Xu Xialian, Ding Xiaoqiang, Liu Hong

机构信息

Department of Nephrology, Zhongshan Hospital, Fudan University, Shanghai, China.

Shanghai Key Laboratory of Kidney and Blood Purification, Shanghai, China.

出版信息

Kidney Int Rep. 2021 Jul 16;6(10):2726-2730. doi: 10.1016/j.ekir.2021.07.014. eCollection 2021 Oct.

DOI:10.1016/j.ekir.2021.07.014
PMID:34622113
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8484121/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/459c/8484121/67db638d10c0/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/459c/8484121/cf4feca15abe/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/459c/8484121/4ed0edea2df6/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/459c/8484121/67db638d10c0/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/459c/8484121/cf4feca15abe/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/459c/8484121/4ed0edea2df6/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/459c/8484121/67db638d10c0/gr3.jpg

相似文献

1
Fibrinogen A Alpha-Chain Amyloidosis Associated With a Novel Variant in a Chinese Family.与中国一个家系中的新型变异相关的纤维蛋白原Aα链淀粉样变性
Kidney Int Rep. 2021 Jul 16;6(10):2726-2730. doi: 10.1016/j.ekir.2021.07.014. eCollection 2021 Oct.
2
Curative hepatorenal transplantation in systemic amyloidosis caused by the Glu526Val fibrinogen alpha-chain variant in an English family.英国家族中由Glu526Val纤维蛋白原α链变异导致的系统性淀粉样变性的根治性肝肾联合移植
QJM. 2000 May;93(5):269-75. doi: 10.1093/qjmed/93.5.269.
3
Hereditary renal amyloidosis with a novel variant fibrinogen.伴有新型纤维蛋白原变异体的遗传性肾淀粉样变性
J Clin Invest. 1994 Feb;93(2):731-6. doi: 10.1172/JCI117027.
4
Unrecognized Fibrinogen A α-Chain Amyloidosis: Results From Targeted Genetic Testing.未识别的纤维蛋白原 Aα 链淀粉样变性:靶向基因检测结果。
Am J Kidney Dis. 2017 Aug;70(2):235-243. doi: 10.1053/j.ajkd.2017.01.048. Epub 2017 Mar 27.
5
Hereditary Fibrinogen Aα-Chain Amyloidosis in Asia: Clinical and Molecular Characteristics.亚洲遗传性纤维蛋白原 Aα 链淀粉样变性:临床与分子特征。
Int J Mol Sci. 2018 Jan 22;19(1):320. doi: 10.3390/ijms19010320.
6
Organ Transplantation in Hereditary Fibrinogen A α-Chain Amyloidosis: A Case Series of French Patients.遗传性纤维蛋白原 Aα 链淀粉样变性的器官移植:法国患者的病例系列。
Am J Kidney Dis. 2020 Sep;76(3):384-391. doi: 10.1053/j.ajkd.2020.02.445. Epub 2020 Jul 10.
7
Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain.与突变纤维蛋白原α链相关的遗传性肾淀粉样变性
Nat Genet. 1993 Mar;3(3):252-5. doi: 10.1038/ng0393-252.
8
Hereditary fibrinogen A alpha-chain amyloidosis: phenotypic characterization of a systemic disease and the role of liver transplantation.遗传性纤维蛋白原 A 链淀粉样变性:系统性疾病的表型特征及肝移植的作用。
Blood. 2010 Apr 15;115(15):2998-3007. doi: 10.1182/blood-2009-06-223792. Epub 2009 Jul 24.
9
A frame shift mutation in the fibrinogen A alpha chain gene in a kindred with renal amyloidosis.一个患有肾淀粉样变性的家族中,纤维蛋白原Aα链基因的移码突变。
Blood. 1996 May 15;87(10):4197-203.
10
Orthotopic liver transplantation for hereditary fibrinogen amyloidosis.原位肝移植治疗遗传性纤维蛋白原淀粉样变性
Transplantation. 2003 Feb 27;75(4):560-1. doi: 10.1097/01.TP.0000046526.10003.EC.

引用本文的文献

1
Clinical manifestations, diagnosis and treatment of hereditary fibrinogen Aα-chain renal amyloidosis: one case report and systematic review.遗传性纤维蛋白原Aα链肾淀粉样变性的临床表现、诊断与治疗:一例报告及系统综述
Int Urol Nephrol. 2025 Feb;57(2):517-533. doi: 10.1007/s11255-024-04236-w. Epub 2024 Oct 17.
2
Fibrinogen A Alpha-Chain Amyloidosis in Two Chinese Patients.两名中国患者的纤维蛋白原Aα链淀粉样变性
Front Med (Lausanne). 2022 Apr 28;9:869409. doi: 10.3389/fmed.2022.869409. eCollection 2022.

本文引用的文献

1
VLITL is a major cross-β-sheet signal for fibrinogen Aα-chain frameshift variants.VLITL是纤维蛋白原Aα链移码变体的主要交叉β-折叠信号。
Blood. 2017 Dec 21;130(25):2799-2807. doi: 10.1182/blood-2017-07-796185. Epub 2017 Oct 31.
2
The first pure form of Ostertag-type amyloidosis in Japan: a sporadic case of hereditary fibrinogen Aα-chain amyloidosis associated with a novel frameshift variant.日本首例纯合型奥斯特塔格型淀粉样变性:1例与新型移码变异相关的遗传性纤维蛋白原Aα链淀粉样变性散发病例
Amyloid. 2015;22(2):142-4. doi: 10.3109/13506129.2015.1037389. Epub 2015 May 27.
3
Diagnosis, pathogenesis, treatment, and prognosis of hereditary fibrinogen A alpha-chain amyloidosis.
遗传性纤维蛋白原Aα链淀粉样变性的诊断、发病机制、治疗及预后
J Am Soc Nephrol. 2009 Feb;20(2):444-51. doi: 10.1681/ASN.2008060614. Epub 2008 Dec 10.
4
Hereditary amyloidosis in early childhood associated with a novel insertion-deletion (indel) in the fibrinogen Aalpha chain gene.儿童期早期遗传性淀粉样变性与纤维蛋白原α链基因中的一种新型插入缺失(indel)相关。
Kidney Int. 2005 Nov;68(5):1994-8. doi: 10.1111/j.1523-1755.2005.00653.x.
5
A study of fibrinogen production by human liver slices in vitro by an immunoprecipitin method.用免疫沉淀法对人肝切片体外纤维蛋白原生成的研究。
J Clin Invest. 1963 Jan;42(1):130-6. doi: 10.1172/JCI104690.
6
Renal amyloidosis with a frame shift mutation in fibrinogen aalpha-chain gene producing a novel amyloid protein.伴有纤维蛋白原α链基因移码突变的肾淀粉样变性,产生一种新型淀粉样蛋白。
Blood. 1997 Dec 15;90(12):4799-805.
7
A frame shift mutation in the fibrinogen A alpha chain gene in a kindred with renal amyloidosis.一个患有肾淀粉样变性的家族中,纤维蛋白原Aα链基因的移码突变。
Blood. 1996 May 15;87(10):4197-203.
8
Hereditary renal amyloidosis with a novel variant fibrinogen.伴有新型纤维蛋白原变异体的遗传性肾淀粉样变性
J Clin Invest. 1994 Feb;93(2):731-6. doi: 10.1172/JCI117027.
9
Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain.与突变纤维蛋白原α链相关的遗传性肾淀粉样变性
Nat Genet. 1993 Mar;3(3):252-5. doi: 10.1038/ng0393-252.