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Genetic Terminal Complement Deficiency in Israeli Bedouins With Kidney Failure.

作者信息

Chowers Guy, Ben-Ruby Dror, Atias-Varon Danit, Shlomovitz Omer, Slabodnik-Kaner Keren, Kagan Maayan, Avayou Shany, Romanjuk Elvira, Rogachev Boris, Haviv Yosef S, Birk Ohad S, Hadar Noam, Bathish Younes, Barshack Iris, Volkov Alexander, Avivi Camila, Pavlovsky Anna, Haskin Orly, Simon Amos J, Glick-Saar Efrat, Ostrovsky Alina, Assi Mawada, Schreiber Ruth, Levin Dana, Yagil Yoram, Awawdeh Mohammad, Skorecki Karl, Dominissini Dan, Shnaider Alla, Vivante Asaf

机构信息

Department of Pediatrics B, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Ramat-Gan, Israel.

Faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv, Israel.

出版信息

Kidney Int Rep. 2025 Jan 20;10(4):1274-1278. doi: 10.1016/j.ekir.2025.01.019. eCollection 2025 Apr.

DOI:10.1016/j.ekir.2025.01.019
PMID:40303201
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12034871/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e489/12034871/cee8d9d9665f/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e489/12034871/cee8d9d9665f/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e489/12034871/cee8d9d9665f/gr1.jpg

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本文引用的文献

1
Genetics of Chronic Kidney Disease.慢性肾脏病的遗传学
N Engl J Med. 2024 Aug 15;391(7):627-639. doi: 10.1056/NEJMra2308577.
2
Cystic phenotype and chronic kidney disease in autosomal dominant Alport syndrome.常染色体显性遗传型 Alport 综合征的囊状表型和慢性肾脏病。
Nephrol Dial Transplant. 2024 Jul 31;39(8):1288-1298. doi: 10.1093/ndt/gfae002.
3
Targeting complement in IgA nephropathy.靶向治疗IgA肾病中的补体。
Clin Kidney J. 2023 Dec 4;16(Suppl 2):ii28-ii39. doi: 10.1093/ckj/sfad198. eCollection 2023 Dec.
4
The role of complement in kidney disease.补体在肾脏疾病中的作用。
Nat Rev Nephrol. 2023 Dec;19(12):771-787. doi: 10.1038/s41581-023-00766-1. Epub 2023 Sep 21.
5
Genetic Markers Among the Israeli Druze Minority Population With End-Stage Kidney Disease.终末期肾病的以色列德鲁兹少数民族的遗传标志物。
Am J Kidney Dis. 2024 Feb;83(2):183-195. doi: 10.1053/j.ajkd.2023.06.006. Epub 2023 Sep 15.
6
Clinical Outcome and Underlying Genetic Cause of Functional Terminal Complement Pathway Deficiencies in a Multicenter UK Cohort.英国多中心队列中功能性末端补体途径缺陷的临床结果及潜在遗传原因
J Clin Immunol. 2022 Apr;42(3):665-671. doi: 10.1007/s10875-022-01213-9. Epub 2022 Jan 27.
7
Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies.总补体和部分补体缺陷的大样本临床和遗传学特征。
Front Immunol. 2019 Aug 8;10:1936. doi: 10.3389/fimmu.2019.01936. eCollection 2019.
8
Consanguinity and genetic diseases among the Bedouin population in the Negev.内盖夫地区贝都因人群中的近亲结婚与遗传疾病
J Community Genet. 2020 Jan;11(1):13-19. doi: 10.1007/s12687-019-00433-8. Epub 2019 Aug 2.
9
Diagnostic Utility of Exome Sequencing for Kidney Disease.外显子组测序在肾脏疾病诊断中的应用。
N Engl J Med. 2019 Jan 10;380(2):142-151. doi: 10.1056/NEJMoa1806891. Epub 2018 Dec 26.