메뉴 건너뛰기




Volumn 8, Issue 8, 2013, Pages 1349-1357

Association between genotype and phenotype in uromodulin-associated kidney disease

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; EPIDERMAL GROWTH FACTOR; TAMM HORSFALL GLYCOPROTEIN;

EID: 84881225751     PISSN: 15559041     EISSN: 1555905X     Source Type: Journal    
DOI: 10.2215/CJN.11151012     Document Type: Article
Times cited : (47)

References (44)
  • 14
    • 0031030185 scopus 로고    scopus 로고
    • Calcium stabilizes fibrillin-1 against proteolytic degradation
    • Reinhardt DP, Ono RN, Sakai LY: Calcium stabilizes fibrillin-1 against proteolytic degradation. J Biol Chem 272: 1231-1236, 1997.
    • (1997) J Biol Chem , vol.272 , pp. 1231-1236
    • Reinhardt, D.P.1    Ono, R.N.2    Sakai, L.Y.3
  • 17
    • 0017883262 scopus 로고
    • A model for association in bivariate life tables and its application in epidemiological studies of familial tendency in chronic disease incidence
    • Clayton DG: A model for association in bivariate life tables and its application in epidemiological studies of familial tendency in chronic disease incidence. Biometrika 65: 141-151, 1978.
    • (1978) Biometrika , vol.65 , pp. 141-151
    • Clayton, D.G.1
  • 23
    • 80052264182 scopus 로고    scopus 로고
    • The rediscovery of uromodulin (Tamm-Horsfall protein): From tubulointerstitial nephropathy to chronic kidney disease
    • Rampoldi L, Scolari F, Amoroso A, Ghiggeri G, Devuyst O: The rediscovery of uromodulin (Tamm-Horsfall protein): From tubulointerstitial nephropathy to chronic kidney disease. Kidney Int 80: 338-347, 2011.
    • (2011) Kidney Int , vol.80 , pp. 338-347
    • Rampoldi, L.1    Scolari, F.2    Amoroso, A.3    Ghiggeri, G.4    Devuyst, O.5
  • 25
    • 0027411474 scopus 로고
    • Gout, uric acid and purine metabolism in paediatric nephrology
    • Cameron JS, Moro F, Simmonds HA: Gout, uric acid and purine metabolism in paediatric nephrology. Pediatr Nephrol 7: 105-118, 1993.
    • (1993) Pediatr Nephrol , vol.7 , pp. 105-118
    • Cameron, J.S.1    Moro, F.2    Simmonds, H.A.3
  • 30
    • 0036020930 scopus 로고    scopus 로고
    • Familial juvenile hyperuricaemic nephropathy in a Caucasian family associated with inborn malformations
    • Kotanko P, Gebetsroither E, Skrabal F: Familial juvenile hyperuricaemic nephropathy in a Caucasian family associated with inborn malformations. Nephrol Dial Transplant 17: 1333-1335, 2002.
    • (2002) Nephrol Dial Transplant , vol.17 , pp. 1333-1335
    • Kotanko, P.1    Gebetsroither, E.2    Skrabal, F.3
  • 32
    • 33750492977 scopus 로고    scopus 로고
    • Familial nephropathy associated with hyperuricemia in Spain: Our experience with 3 families harbouring a UMOD mutation
    • Puig JG, Prior C, Martínez-Ara J, Torres RJ: Familial nephropathy associated with hyperuricemia in Spain: our experience with 3 families harbouring a UMOD mutation. Nucleosides Nucleotides Nucleic Acids 25: 1295-1300, 2006.
    • (2006) Nucleosides Nucleotides Nucleic Acids , vol.25 , pp. 1295-1300
    • Puig, J.G.1    Prior, C.2    Martínez-Ara, J.3    Torres, R.J.4
  • 36
  • 42
    • 26444591591 scopus 로고    scopus 로고
    • A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy
    • Calado J, Gaspar A, Clemente C, Rueff J: A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy. BMC Med Genet 6: 5, 2005.
    • (2005) BMC Med Genet , vol.6 , pp. 5
    • Calado, J.1    Gaspar, A.2    Clemente, C.3    Rueff, J.4
  • 43
    • 20544476406 scopus 로고    scopus 로고
    • A novel pattern of mutation in uromodulin disorders: Autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease
    • Lens XM, Banet JF, Outeda P, Barrio-Lucía V: A novel pattern of mutation in uromodulin disorders: autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease. Am J Kidney Dis 46: 52-57, 2005.
    • (2005) Am J Kidney Dis , vol.46 , pp. 52-57
    • Lens, X.M.1    Banet, J.F.2    Outeda, P.3    Barrio-Lucía, V.4
  • 44
    • 78449270818 scopus 로고    scopus 로고
    • A case of familial juvenile hyperuricemic nephropathy with novel uromodulin gene mutation, a novel heterozygous missense mutation in Korea
    • Lee DH, Kim JK, Oh SE, Noh JW, Lee YK: A case of familial juvenile hyperuricemic nephropathy with novel uromodulin gene mutation, a novel heterozygous missense mutation in Korea. J Korean Med Sci 25: 1680-1682, 2010
    • (2010) J Korean Med Sci , vol.25 , pp. 1680-1682
    • Lee, D.H.1    Kim, J.K.2    Oh, S.E.3    Noh, J.W.4    Lee, Y.K.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.