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Autosomal dominant polycystic kidney disease.

作者信息

Torres V E, Harris P C

机构信息

Division of Nephrology, Mayo Clinic, Rochester, MN, USA.

出版信息

Nefrologia. 2003;23 Suppl 1:14-22.

PMID:12708359
Abstract
摘要

相似文献

1
Autosomal dominant polycystic kidney disease.常染色体显性多囊肾病
Nefrologia. 2003;23 Suppl 1:14-22.
2
Molecular genetic investigations in autosomal dominant polycystic kidney disease. Gene Mutation detection, linkage analysis, and preliminary ACE gene I/D polymorphism association studies: an update.常染色体显性多囊肾病的分子遗传学研究。基因突变检测、连锁分析及血管紧张素转换酶基因I/D多态性初步关联研究:最新进展
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Identification of a gene for autosomal dominant polycystic kidney disease: implications for understanding the pathogenesis and treatment of the disease.常染色体显性多囊肾病基因的鉴定:对理解该疾病发病机制及治疗的意义。
Nephrol Dial Transplant. 1996 Feb;11(2):258-62. doi: 10.1093/oxfordjournals.ndt.a027250.
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Transepithelial chloride secretion and cystogenesis in autosomal dominant polycystic kidney disease.常染色体显性遗传性多囊肾病中的跨上皮氯化物分泌与囊肿形成
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Identification of a novel PKD1 mutation in an Irish autosomal dominant polycystic kidney disease kindred.在一个爱尔兰常染色体显性多囊肾病家族中鉴定出一种新的PKD1突变。
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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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PKD3-to be or not to be?多囊肾病3型:存在还是不存在?
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Autosomal dominant polycystic kidney disease: the last 3 years.常染色体显性多囊肾病:过去三年
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An efficient linkage analysis strategy for autosomal dominant polycystic kidney disease.一种针对常染色体显性多囊肾病的有效连锁分析策略。
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Autosomal dominant polycystic kidney disease unlinked to the PKD1 and PKD2 loci presenting as familial cerebral aneurysm.与PKD1和PKD2基因座无关的常染色体显性多囊肾病表现为家族性脑动脉瘤。
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Diagnosis and management of childhood polycystic kidney disease.儿童多囊肾病的诊断与治疗。
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Ciliar functions in the nephron.肾单位中的纤毛功能。
Pflugers Arch. 2009 May;458(1):179-87. doi: 10.1007/s00424-008-0632-0. Epub 2009 Jan 20.
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Polycystic kidney diseases: from molecular discoveries to targeted therapeutic strategies.多囊肾病:从分子发现到靶向治疗策略
Cell Mol Life Sci. 2008 Feb;65(4):605-19. doi: 10.1007/s00018-007-7362-x.
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mTOR is out of control in polycystic kidney disease.在多囊肾病中,mTOR失去控制。
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The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease.mTOR信号通路受多囊蛋白-1调控,抑制该通路可逆转多囊肾病中的肾囊肿形成。
Proc Natl Acad Sci U S A. 2006 Apr 4;103(14):5466-71. doi: 10.1073/pnas.0509694103. Epub 2006 Mar 27.
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Autosomal dominant polycystic liver disease in a family without polycystic kidney disease associated with a novel missense protein kinase C substrate 80K-H mutation.一个无多囊肾病家族中的常染色体显性遗传性多囊肝病与一种新的错义蛋白激酶C底物80K-H突变相关。
World J Gastroenterol. 2005 Dec 28;11(48):7690-3. doi: 10.3748/wjg.v11.i48.7690.