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Polycystic Kidney Disease Caused by Bilineal Inheritance of Truncating as Well as Mutations.

作者信息

Losekoot Monique, Meijer Esther, Hagen E Christiaan, Belostotsky Vladimir, de Borst Martin, Tholens Aart, Phylipsen Marion, Pei York, Gansevoort Ron T, Peters Dorien J M

机构信息

Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.

Department of Nephrology, University Medical Center Groningen, University Hospital Groningen, Groningen, Netherlands.

出版信息

Kidney Int Rep. 2020 Jul 17;5(10):1828-1832. doi: 10.1016/j.ekir.2020.07.006. eCollection 2020 Oct.

DOI:10.1016/j.ekir.2020.07.006
PMID:33102977
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7569700/
Abstract
摘要

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本文引用的文献

1
Effect of Lanreotide on Kidney Function in Patients With Autosomal Dominant Polycystic Kidney Disease: The DIPAK 1 Randomized Clinical Trial.兰瑞肽对常染色体显性多囊肾病患者肾功能的影响：DIPAK 1 随机临床试验。
JAMA. 2018 Nov 20;320(19):2010-2019. doi: 10.1001/jama.2018.15870.
2
Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report.捷克一个常染色体显性多囊肾病家族中致病PKD1和PKD2变异的双系遗传——病例报告
BMC Nephrol. 2018 Jul 4;19(1):163. doi: 10.1186/s12882-018-0978-2.
3
Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease.
完善常染色体显性多囊肾病的基因型 - 表型相关性
J Am Soc Nephrol. 2016 Jun;27(6):1861-8. doi: 10.1681/ASN.2015060648. Epub 2015 Oct 9.
4
The PROPKD Score: A New Algorithm to Predict Renal Survival in Autosomal Dominant Polycystic Kidney Disease.PROPKD评分：一种预测常染色体显性多囊肾病肾脏存活情况的新算法。
J Am Soc Nephrol. 2016 Mar;27(3):942-51. doi: 10.1681/ASN.2015010016. Epub 2015 Jul 6.
5
Type of PKD1 mutation influences renal outcome in ADPKD.PKD1 突变类型影响 ADPKD 的肾脏结局。
J Am Soc Nephrol. 2013 May;24(6):1006-13. doi: 10.1681/ASN.2012070650. Epub 2013 Feb 21.
6
A missense mutation in PKD1 attenuates the severity of renal disease.PKD1 中的错义突变可减轻肾脏疾病的严重程度。
Kidney Int. 2012 Feb;81(4):412-7. doi: 10.1038/ki.2011.370. Epub 2011 Oct 26.
7
Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.不完全显性的PKD1等位基因表明基因剂量在多囊肾病囊肿起始中起作用。
Kidney Int. 2009 Apr;75(8):848-55. doi: 10.1038/ki.2008.686. Epub 2009 Jan 21.
8
Clinical practice. Autosomal dominant polycystic kidney disease.临床实践。常染色体显性遗传性多囊肾病
N Engl J Med. 2008 Oct 2;359(14):1477-85. doi: 10.1056/NEJMcp0804458.
9
Trans-heterozygous Pkd1 and Pkd2 mutations modify expression of polycystic kidney disease.Pkd1和Pkd2基因的反式杂合突变可改变多囊肾病的表达。
Hum Mol Genet. 2002 Aug 1;11(16):1845-54. doi: 10.1093/hmg/11.16.1845.