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MYH9 相关肾病的谱。

The spectrum of MYH9-associated nephropathy.

机构信息

Department of Biochemistry, Wake Forest University School of Medicine, Winston-Salem, NC 27157-1053, USA.

出版信息

Clin J Am Soc Nephrol. 2010 Jun;5(6):1107-13. doi: 10.2215/CJN.08721209. Epub 2010 Mar 18.

DOI:10.2215/CJN.08721209
PMID:20299374
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4890964/
Abstract

Causes of the excess incidence rates of chronic kidney disease in the African American population have long been under study. Recently, polymorphisms in the nonmuscle myosin heavy chain 9 gene (MYH9) have been associated with nondiabetic kidney diseases in African- and European-derived populations. Risk variants in MYH9 contribute to approximately 70% of nondiabetic forms of ESRD in African Americans and 40 to 45% of all ESRD in this ethnic group, with lesser effects in European Americans. It is clear that MYH9 polymorphisms have a significant impact on the incidence rates of kidney disease in African Americans. This article describes the current spectrum of biopsy-proven MYH9-associated kidney diseases, along with potential effects of MYH9 on ethnic differences in clinical outcome. MYH9 risk variants exhibit the most impressive association with any common complex kidney disease yet identified.

摘要

非裔美国人慢性肾脏病发病率过高的原因长期以来一直是研究的课题。最近,非肌肉肌球蛋白重链 9 基因(MYH9)的多态性与非洲裔和欧洲裔人群的非糖尿病性肾脏疾病有关。MYH9 的风险变异约占非裔美国人非糖尿病性终末期肾病的 70%,占该族裔所有终末期肾病的 40%至 45%,在欧洲裔美国人中的影响较小。显然,MYH9 多态性对非裔美国人的肾脏疾病发病率有重大影响。本文描述了目前经活检证实的与 MYH9 相关的肾脏疾病谱,以及 MYH9 对临床结局中族裔差异的潜在影响。MYH9 风险变异与迄今为止发现的任何常见的复杂肾脏疾病都有最显著的关联。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8fb1/4890964/bd7028da5bd8/nihms-788213-f0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8fb1/4890964/ce121c0a8102/nihms-788213-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8fb1/4890964/608e504bda7c/nihms-788213-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8fb1/4890964/bd7028da5bd8/nihms-788213-f0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8fb1/4890964/ce121c0a8102/nihms-788213-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8fb1/4890964/608e504bda7c/nihms-788213-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8fb1/4890964/bd7028da5bd8/nihms-788213-f0003.jpg

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Am J Kidney Dis. 2010 May;55(5):e21-4. doi: 10.1053/j.ajkd.2009.10.060. Epub 2010 Jan 29.
2
Effect of community characteristics on familial clustering of end-stage renal disease.社区特征对终末期肾病家族聚集性的影响。
Am J Nephrol. 2009;30(6):499-504. doi: 10.1159/000243716. Epub 2009 Sep 30.
3
Non-muscle myosin heavy chain 9 gene MYH9 associations in African Americans with clinically diagnosed type 2 diabetes mellitus-associated ESRD.
The Potential Impact of MYH9 (rs3752462) and ELMO1 (rs741301) Genetic Variants on the Risk of Nephrotic Syndrome Incidence.
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Biochem Genet. 2024 Apr;62(2):1304-1324. doi: 10.1007/s10528-023-10481-y. Epub 2023 Aug 18.
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Impact of early-life diet on long-term renal health.早期饮食对长期肾脏健康的影响。
Mol Cell Pediatr. 2020 Dec 3;7(1):17. doi: 10.1186/s40348-020-00109-1.
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Mutations in non-muscle myosin 2A disrupt the actomyosin cytoskeleton in Sertoli cells and cause male infertility.非肌肉肌球蛋白 2A 突变会破坏支持细胞中的肌动球蛋白细胞骨架,导致男性不育。
Dev Biol. 2021 Feb;470:49-61. doi: 10.1016/j.ydbio.2020.11.003. Epub 2020 Nov 12.
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7
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