Art

J-GLOBAL ID：201902222913793488   Reference number：19A0714084

Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease

常染色体優性尿細管間質性腎疾患-UMODは最も頻繁な非多嚢胞性遺伝性腎疾患である【JST・京大機械翻訳】

Author (15)： Gast Christine (Wessex Kidney Centre, Queen Alexandra Hospital, Portsmouth Hospitals NHS Trust, Portsmouth, UK) ,  Gast Christine (Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, UK) ,  Marinaki Anthony (Purine Research Laboratory, Guys and St Thomas’ NHS Foundation Trust, London, UK) ,  Arenas-Hernandez Monica (Purine Research Laboratory, Guys and St Thomas’ NHS Foundation Trust, London, UK) ,  Campbell Sara (Wessex Kidney Centre, Queen Alexandra Hospital, Portsmouth Hospitals NHS Trust, Portsmouth, UK) ,  Seaby Eleanor G. (Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, UK) ,  Pengelly Reuben J. (Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, UK) ,  Gale Daniel P. (UCL Centre for Nephrology, Royal Free Hospital, London, UK) ,  Connor Thomas M. (Oxford Kidney Unit, Churchill Hospital, Oxford, UK) ,  Bunyan David J. (Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury, UK) ,  Hodanova Katerina (Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University Prague, Prague, Czech Republic) ,  Zivna Martina (Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University Prague, Prague, Czech Republic) ,  Kmoch Stanislav (Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University Prague, Prague, Czech Republic) ,  Ennis Sarah (Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, UK) ,  Venkat-Raman G. (Wessex Kidney Centre, Queen Alexandra Hospital, Portsmouth Hospitals NHS Trust, Portsmouth, UK)
Material： BMC Nephrology (Web)
Volume： 19  Issue： 1  Page： 301  Publication year： 2018 
JST Material Number： U7437A  ISSN： 1471-2369  Document type： Article
Article type： 原著論文  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Abstract/Point： Autosomal dominant tubulointer...

Register(free) or Log In to access     To see more with JDream III (charged).   {{ this.onShowAbsJLink("http://jdream3.com/lp/jglobal/index.html?docNo=19A0714084&from=J-GLOBAL&jstjournalNo=U7437A") }}

Thesaurus term： morbidity ,  chronic kidney disease ,  mutation ,  *dominance ,  *autosome ,  *kidney disease ,  *cyst ,  *heredity ,  *kidney tubule ,  adult(person) ,  gout ,  gene ,  questionnaire ,  proteinuria
Semi thesaurus term： 家族歴 , 【Automatic Indexing@JST】

Author keywords (4)： Genetic kidney disease ,  Autosomal dominant tubulointerstitial kidney disease ,  UMOD ,  Prevalence

JST classification (2)： Urogenital diseases  (GM03000L) ,  Congenital diseases,deformities in general.  (GD03010V)

Reference (43)：

• J Am Soc Nephrol; A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin; K Dahan, O Devuyst, M Smaers, D Vertommen, G Loute, JM Poux, B Viron, C Jacquot, MF Gagnadoux, D Chauveau; 14; 2003; 2883-2893; 10.1097/01.ASN.0000092147.83480.B5; citation_id=CR1
• Kidney Int; Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--a KDIGO consensus report; KU Eckardt, SL Alper, C Antignac, AJ Bleyer, D Chauveau, K Dahan, C Deltas, A Hosking, S Kmoch, L Rampoldi; 88; 2015; 676-683; 10.1038/ki.2015.28; citation_id=CR2
• Nat Genet; Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing; A Kirby, A Gnirke, DB Jaffe, V Baresova, N Pochet, B Blumenstiel, C Ye, D Aird, C Stevens, JT Robinson; 45; 2013; 299-303; 10.1038/ng.2543; citation_id=CR3
• Kidney Int; Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation; C Bingham, S Ellard, WG van't Hoff, HA Simmonds, AM Marinaki, MK Badman, PH Winocour, A Stride, CR Lockwood, AJ Nicholls; 63; 2003; 1645-1651; 10.1046/j.1523-1755.2003.00903.x; citation_id=CR4
• Am J Hum Genet; Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure; M Zivná, H Hůlková, M Matignon, K Hodanová, P Vylet'al, M Kalbácová, V Baresová, J Sikora, H Blazková, J Zivný; 85; 2009; 204-213; 10.1016/j.ajhg.2009.07.010; citation_id=CR5

Terms in the title (7)： 常染色体 ,  優性 ,  尿細管 ,  間質 ,  腎疾患 ,  嚢胞 ,  遺伝性腎疾患