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Volumn 86, Issue 3, 2014, Pages 459-461

Autosomal dominant tubulointerstitial kidney disease: Of names and genes

Author keywords

[No Author keywords available]

Indexed keywords

CREATININE; MUCIN 1; MUTANT PROTEIN; RENIN; TAMM HORSFALL GLYCOPROTEIN;

EID: 84907412647     PISSN: 00852538     EISSN: 15231755     Source Type: Journal    
DOI: 10.1038/ki.2014.125     Document Type: Note
Times cited : (26)

References (11)
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    • Renal fibrosis is the common feature of Autosomal Dominant Tubulointerstitial Kidney Diseases caused by mutations in mucin 1 or uromodulin
    • Ekici AB, Hackenbeck T, Morinière V et al. Renal fibrosis is the common feature of Autosomal Dominant Tubulointerstitial Kidney Diseases caused by mutations in mucin 1 or uromodulin. Kidney Int 2014; 86: 589-599.
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    • Ekici, A.B.1    Hackenbeck, T.2    Morinière, V.3
  • 2
    • 0036914069 scopus 로고    scopus 로고
    • Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy
    • Hart TC, Gorry MC, Hart PS et al. Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J Med Genet 2002; 39: 882-892.
    • (2002) J Med Genet , vol.39 , pp. 882-892
    • Hart, T.C.1    Gorry, M.C.2    Hart, P.S.3
  • 3
    • 0030994938 scopus 로고    scopus 로고
    • Late occurrence of cysts in autosomal dominant medullary cystic kidney disease
    • Neumann HPH, Zauner I, Strahm B et al. Late occurrence of cysts in autosomal dominant medullary cystic kidney disease. Nephrol Dial Transplant 1997; 12: 1242-1246.
    • (1997) Nephrol Dial Transplant , vol.12 , pp. 1242-1246
    • Neumann, H.P.H.1    Zauner, I.2    Strahm, B.3
  • 4
    • 0025897169 scopus 로고
    • Familial juvenile gouty nephropathy with renal urate hypoexcretion preceding renal disease
    • Moro F, Ogg CS, Simmonds HA et al. Familial juvenile gouty nephropathy with renal urate hypoexcretion preceding renal disease. Clin Nephrol 1991; 9: 263-269.
    • (1991) Clin Nephrol , vol.9 , pp. 263-269
    • Moro, F.1    Ogg, C.S.2    Simmonds, H.A.3
  • 5
    • 68249127890 scopus 로고    scopus 로고
    • Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure
    • Zivna M, Hulkova H, Matignon M et al. Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. Am J Hum Genet 2009; 86: 204-213.
    • (2009) Am J Hum Genet , vol.86 , pp. 204-213
    • Zivna, M.1    Hulkova, H.2    Matignon, M.3
  • 6
    • 78649857332 scopus 로고    scopus 로고
    • Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone
    • Bleyer AJ, Zivná M, Hulková H et al. Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone. Clin Nephrol 2010; 74: 411-422.
    • (2010) Clin Nephrol , vol.74 , pp. 411-422
    • Bleyer, A.J.1    Zivná, M.2    Hulková, H.3
  • 7
    • 18544388555 scopus 로고    scopus 로고
    • Autosomal-dominant medullary cystic kidney disease type 1: Clinical and molecular findings in six large Cypriot families
    • Stavrou C, Koptides M, Tombazos C et al. Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families. Kidney Int 2002; 62: 1385-1394.
    • (2002) Kidney Int , vol.62 , pp. 1385-1394
    • Stavrou, C.1    Koptides, M.2    Tombazos, C.3
  • 8
    • 33744475145 scopus 로고    scopus 로고
    • Medullary cystic kidney disease type 1: Mutational analysis in 37 genes based on haplotype sharing
    • Wolf MTF, Mucha BE, Hennies HC et al. Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing. Hum Genet 2006; 119: 649-658.
    • (2006) Hum Genet , vol.119 , pp. 649-658
    • Wolf, M.T.F.1    Mucha, B.E.2    Hennies, H.C.3
  • 9
    • 84874662323 scopus 로고    scopus 로고
    • Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing
    • Kirby A, Gnirke A, Jaffe DB et al. Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. Nat Genet 2013; 45: 288-393.
    • (2013) Nat Genet , vol.45 , pp. 288-393
    • Kirby, A.1    Gnirke, A.2    Jaffe, D.B.3
  • 10
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    • Genomewide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21
    • Piret SE, Danoy P, Dahan K et al. Genomewide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21. Hum Genet 2011; 129: 51-58.
    • (2011) Hum Genet , vol.129 , pp. 51-58
    • Piret, S.E.1    Danoy, P.2    Dahan, K.3
  • 11
    • 0032836391 scopus 로고    scopus 로고
    • A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta
    • Lindner TH, Njolstad PR, Horikawa Y et al. A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta. Hum Mol Genet 1999; 8: 2001-2008.
    • (1999) Hum Mol Genet , vol.8 , pp. 2001-2008
    • Lindner, T.H.1    Njolstad, P.R.2    Horikawa, Y.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.