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Somatic mutation as mechanism for cyst formation in autosomal dominant polycystic kidney disease.

作者信息

Qian F, Watnick T J

机构信息

Division of Nephrology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, 21205, USA.

出版信息

Mol Genet Metab. 1999 Oct;68(2):237-42. doi: 10.1006/mgme.1999.2896.

DOI:10.1006/mgme.1999.2896
PMID:10527675
Abstract
摘要

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Somatic mutation as mechanism for cyst formation in autosomal dominant polycystic kidney disease.体细胞突变作为常染色体显性多囊肾病中囊肿形成的机制。
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Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations.常染色体显性多囊肾病2型囊肿中多囊蛋白1的突变提示反式杂合突变的致病作用。
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Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease.在常染色体显性多囊肾病中,囊肿数量而非囊肿生长速率与突变基因相关。
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[From gene to disease; from polycystines to polycystic kidney disease].
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Loss of heterozygosity in renal and hepatic epithelial cystic cells from ADPKD1 patients.常染色体显性多囊肾病1型(ADPKD1)患者肾和肝上皮囊肿细胞中的杂合性缺失。
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Application of SGLT-2 inhibitors in non-diabetic CKD: mechanisms, efficacy, and safety.钠-葡萄糖协同转运蛋白2抑制剂在非糖尿病慢性肾脏病中的应用:作用机制、疗效及安全性
Front Med (Lausanne). 2025 Jul 1;12:1574693. doi: 10.3389/fmed.2025.1574693. eCollection 2025.
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The role of urinary supersaturations for lithogenic salts in the progression of autosomal dominant polycystic kidney disease.尿过饱和度在常染色体显性多囊肾病进展中的作用。
J Nephrol. 2023 May;36(4):1011-1018. doi: 10.1007/s40620-022-01540-5. Epub 2022 Dec 17.
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The fate of bone marrow-derived cells carrying a Polycystic Kidney Disease mutation in the genetically normal kidney.
携带多囊肾病突变的骨髓源性细胞在遗传正常肾脏中的命运。
BMC Nephrol. 2012 Aug 29;13:91. doi: 10.1186/1471-2369-13-91.
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Autosomal dominant polycystic kidney disease and transplantation.常染色体显性多囊肾病与移植
Ann Transplant. 2009 Oct-Dec;14(4):86-90.
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The Jeremiah Metzger Lecture. Polycystic kidney disease: old disease in a new context.杰里迈亚·梅茨格讲座。多囊肾病:新背景下的古老疾病。
Trans Am Clin Climatol Assoc. 2002;113:211-24; discussion 224-6.
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The unexpected landscape of in vivo somatic mutation in a human epithelial cell lineage.人类上皮细胞谱系中体内体细胞突变的意外情况
Proc Natl Acad Sci U S A. 2002 Feb 5;99(3):1437-42. doi: 10.1073/pnas.032655699. Epub 2002 Jan 29.