Variable presentations of rare genetic renal interstitial diseases.
作者信息
Trachtman Howard
机构信息
Division of Nephrology, Department of Pediatrics, New York University Langone Medical Center, New York, New York.
出版信息
Clin J Am Soc Nephrol. 2014 Mar;9(3):437-9. doi: 10.2215/CJN.00180114. Epub 2014 Feb 7.
Abstract
摘要
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本文引用的文献
1
Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1.
Clin J Am Soc Nephrol. 2014 Mar;9(3):527-35. doi: 10.2215/CJN.06380613. Epub 2014 Feb 7.
2
Strategies targeting cAMP signaling in the treatment of polycystic kidney disease.
J Am Soc Nephrol. 2014 Jan;25(1):18-32. doi: 10.1681/ASN.2013040398. Epub 2013 Dec 12.
3
Common noncoding UMOD gene variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expression.
Nat Med. 2013 Dec;19(12):1655-60. doi: 10.1038/nm.3384. Epub 2013 Nov 3.
4
Trends in the prevalence of reduced GFR in the United States: a comparison of creatinine- and cystatin C-based estimates.
Am J Kidney Dis. 2013 Aug;62(2):253-60. doi: 10.1053/j.ajkd.2013.03.013. Epub 2013 Apr 22.
5
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.
Nat Genet. 2013 Mar;45(3):299-303. doi: 10.1038/ng.2543. Epub 2013 Feb 10.
6
Genetics and outcome of atypical hemolytic uremic syndrome: a nationwide French series comparing children and adults.
Clin J Am Soc Nephrol. 2013 Apr;8(4):554-62. doi: 10.2215/CJN.04760512. Epub 2013 Jan 10.
7
Chronic kidney disease 10 years on: what have we learned?
Curr Opin Nephrol Hypertens. 2012 Nov;21(6):607-11. doi: 10.1097/MNH.0b013e328358a30e.
8
Association of eGFR-Related Loci Identified by GWAS with Incident CKD and ESRD.
PLoS Genet. 2011 Sep;7(9):e1002292. doi: 10.1371/journal.pgen.1002292. Epub 2011 Sep 29.
9
Hereditary interstitial kidney disease.
Semin Nephrol. 2010 Jul;30(4):366-73. doi: 10.1016/j.semnephrol.2010.06.003.
10
Uromodulin levels associate with a common UMOD variant and risk for incident CKD.
J Am Soc Nephrol. 2010 Feb;21(2):337-44. doi: 10.1681/ASN.2009070725. Epub 2009 Dec 3.
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