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家族性局灶节段性肾小球硬化症

Familial focal segmental glomerulosclerosis.

作者信息

Kaplan J, Pollak M R

机构信息

Renal Division, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA.

出版信息

Curr Opin Nephrol Hypertens. 2001 Mar;10(2):183-7. doi: 10.1097/00041552-200103000-00005.

DOI:10.1097/00041552-200103000-00005
PMID:11224692
Abstract

There is increasing recognition of the importance of genetic factors in the development of focal segmental glomerulosclerosis and related proteinuric disorders. Recently, four genes have been identified which, when defective, cause focal segmental glomerulosclerosis or nephrosis. All of these genes appear to be important in the maintenance of glomerular podocyte function. However, not all cases of familial nephrosis or proteinuria are explained by defects in these genes.

摘要

遗传因素在局灶节段性肾小球硬化及相关蛋白尿性疾病发生发展中的重要性日益受到认可。最近,已鉴定出四个基因,这些基因发生缺陷时会导致局灶节段性肾小球硬化或肾病。所有这些基因似乎在维持肾小球足细胞功能方面都很重要。然而,并非所有家族性肾病或蛋白尿病例都可由这些基因的缺陷来解释。

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Familial focal segmental glomerulosclerosis.家族性局灶节段性肾小球硬化症
Curr Opin Nephrol Hypertens. 2001 Mar;10(2):183-7. doi: 10.1097/00041552-200103000-00005.
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Focal and segmental glomerulosclerosis in mice with podocyte-specific expression of mutant alpha-actinin-4.足细胞特异性表达突变α-辅肌动蛋白-4的小鼠中的局灶节段性肾小球硬化
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[The genetic basis of familial focal segmental glomerulosclerosis and related nephrotic syndrome].[家族性局灶节段性肾小球硬化及相关肾病综合征的遗传基础]
Nihon Jinzo Gakkai Shi. 2007;49(2):88-97.
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Bigenic mouse models of focal segmental glomerulosclerosis involving pairwise interaction of CD2AP, Fyn, and synaptopodin.涉及CD2AP、Fyn和突触足蛋白两两相互作用的局灶节段性肾小球硬化双基因小鼠模型。
J Clin Invest. 2006 May;116(5):1337-45. doi: 10.1172/JCI27400. Epub 2006 Apr 20.
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[Focal segmental glomerulosclerosis: Pathogenesis, pathophysiology, and therapy].[局灶节段性肾小球硬化症:发病机制、病理生理学及治疗]
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Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis--a review.局灶节段性肾小球硬化中足细胞基因的分子遗传学分析——综述
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[A genetic viewpoint of focal glomerular sclerosis: fom genes to glomerular pathophysiology [corrected]].局灶节段性肾小球硬化的遗传学观点:从基因到肾小球病理生理学[校正后]
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TRPC6 and FSGS: the latest TRP channelopathy.瞬时受体电位通道蛋白6(TRPC6)与局灶节段性肾小球硬化症(FSGS):最新的瞬时受体电位通道病
Biochim Biophys Acta. 2007 Aug;1772(8):859-68. doi: 10.1016/j.bbadis.2007.03.005. Epub 2007 Mar 20.
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[Focal segmental glomerulosclerosis].局灶节段性肾小球硬化
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CD2-associated protein and glomerular disease.CD2相关蛋白与肾小球疾病
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The biological role of actinin-4 (ACTN4) in malignant phenotypes of cancer.肌动蛋白结合蛋白4(ACTN4)在癌症恶性表型中的生物学作用。
Cell Biosci. 2015 Aug 18;5:41. doi: 10.1186/s13578-015-0031-0. eCollection 2015.
2
Identification of nephropathy candidate genes by comparing sclerosis-prone and sclerosis-resistant mouse strain kidney transcriptomes.通过比较易发生硬化和不易发生硬化的小鼠品系肾脏转录组,鉴定肾病候选基因。
BMC Nephrol. 2012 Jul 19;13:61. doi: 10.1186/1471-2369-13-61.
3
Kidney disease in African Americans: genetic considerations.
非裔美国人的肾脏疾病:遗传学考量
J Natl Med Assoc. 2002 Aug;94(8 Suppl):16S-27S.
4
Focusing on the glomerular slit diaphragm: podocin enters the picture.聚焦于肾小球裂孔隔膜:足突蛋白进入了我们的视野。
Am J Pathol. 2002 Jan;160(1):3-5. doi: 10.1016/S0002-9440(10)64341-6.