"Mistakes happen": somatic mutation and disease.
作者信息
Qian F, Germino G G
机构信息
Department of Medicine, Division of Nephrology, Johns Hopkins University School of Medicine, Baltimore, MD 21205-2196, USA.
出版信息
Am J Hum Genet. 1997 Nov;61(5):1000-5. doi: 10.1086/301618.
Abstract
摘要
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本文引用的文献
1
Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene.结节性硬化症中的肾囊性疾病：多囊肾病1基因的作用。
Am J Hum Genet. 1997 Oct;61(4):843-51. doi: 10.1086/514888.
2
Loss of heterozygosity or: how I learned to stop worrying and love mitotic recombination.杂合性缺失：或者说，我是如何学会不再担忧并爱上有丝分裂重组的。
Am J Hum Genet. 1997 Nov;61(5):995-9. doi: 10.1086/301617.
3
An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection.一种用于突变检测的新策略揭示了多囊蛋白1（PKD1）重复部分的异常突变模式。
Hum Mol Genet. 1997 Sep;6(9):1473-81. doi: 10.1093/hmg/6.9.1473.
4
Recent advances in the understanding of polycystic kidney disease.多囊肾病认识方面的最新进展。
Curr Opin Nephrol Hypertens. 1997 Jul;6(4):377-83. doi: 10.1097/00041552-199707000-00012.
5
Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia.遗传性出血性毛细血管扩张症中内皮糖蛋白的特征及新突变的鉴定。
Am J Hum Genet. 1997 Jul;61(1):68-79. doi: 10.1086/513906.
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The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2.激活素受体样激酶1基因：2型遗传性出血性毛细血管扩张症的基因组结构与突变
Am J Hum Genet. 1997 Jul;61(1):60-7. doi: 10.1086/513903.
7
Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach.采用一种新方法鉴定多囊肾病1基因（PKD1）重复区域中的突变。
Am J Hum Genet. 1997 Jun;60(6):1399-410. doi: 10.1086/515467.
8
PKD1 interacts with PKD2 through a probable coiled-coil domain.多囊蛋白1（PKD1）通过一个可能的卷曲螺旋结构域与多囊蛋白2（PKD2）相互作用。
Nat Genet. 1997 Jun;16(2):179-83. doi: 10.1038/ng0697-179.
9
Molecular basis of renal cyst formation--one hit or two?肾囊肿形成的分子基础——一次打击还是两次打击？
Lancet. 1997 Apr 12;349(9058):1039-40. doi: 10.1016/S0140-6736(05)62286-6.
10
Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis.肾囊肿细胞中16号染色体短臂1区3带的多囊肾病（PKD1）区域缺失支持了囊肿发病机制的功能丧失模型。
J Clin Invest. 1997 Jan 15;99(2):194-9. doi: 10.1172/JCI119147.
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