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Volumn 72, Issue 10, 2007, Pages 1181-1183

Basic science meets clinical medicine: Identification of a CD2AP-deficient patient

Author keywords

[No Author keywords available]

Indexed keywords

CD2 ASSOCIATED PROTEIN;

EID: 35848956602     PISSN: 00852538     EISSN: 15231755     Source Type: Journal    
DOI: 10.1038/sj.ki.5002575     Document Type: Note
Times cited : (8)

References (9)
  • 1
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    • Positionally cloned gene for a novel glomerular protein - nephrin - is mutated in congenital nephrotic syndrome
    • Kestila M, Lenkkeri U, Mannikko M et al. Positionally cloned gene for a novel glomerular protein - nephrin - is mutated in congenital nephrotic syndrome. Mol Cell 1998; 1: 575-582.
    • (1998) Mol Cell , vol.1 , pp. 575-582
    • Kestila, M.1    Lenkkeri, U.2    Mannikko, M.3
  • 2
    • 0034051681 scopus 로고    scopus 로고
    • Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis
    • Kaplan JM, Kim SH, North KN et al. Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. Nat Genet 2000; 24: 251-256.
    • (2000) Nat Genet , vol.24 , pp. 251-256
    • Kaplan, J.M.1    Kim, S.H.2    North, K.N.3
  • 3
    • 22844436647 scopus 로고    scopus 로고
    • TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function
    • Reiser J, Polu KR, Moller CC et al. TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function. Nat Genet 2005; 37: 739-744.
    • (2005) Nat Genet , vol.37 , pp. 739-744
    • Reiser, J.1    Polu, K.R.2    Moller, C.C.3
  • 4
    • 20844461826 scopus 로고    scopus 로고
    • A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis
    • Winn MP, Conlon PJ, Lynn KL et al. A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. Science 2005; 308: 1801-1804.
    • (2005) Science , vol.308 , pp. 1801-1804
    • Winn, M.P.1    Conlon, P.J.2    Lynn, K.L.3
  • 5
    • 0346965980 scopus 로고    scopus 로고
    • Molecular structure-function relationship in the slit diaphragm
    • Chugh SS, Kaw B, Kanwar YS. Molecular structure-function relationship in the slit diaphragm. Semin Nephrol 2003; 23: 544-555.
    • (2003) Semin Nephrol , vol.23 , pp. 544-555
    • Chugh, S.S.1    Kaw, B.2    Kanwar, Y.S.3
  • 6
    • 35848933493 scopus 로고    scopus 로고
    • Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation
    • Löwik MM, Groenen PJTA, Pronk I et al. Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation. Kidney Int 2007; 72: 1198-1203.
    • (2007) Kidney Int , vol.72 , pp. 1198-1203
    • Löwik, M.M.1    Groenen, P.J.T.A.2    Pronk, I.3
  • 7
    • 0035164681 scopus 로고    scopus 로고
    • The murine nephrin gene is specifically expressed in kidney, brain and pancreas: Inactivation of the gene leads to massive proteinuria and neonatal death
    • Putaala H, Soininen R, Kilpelainen P et al. The murine nephrin gene is specifically expressed in kidney, brain and pancreas: inactivation of the gene leads to massive proteinuria and neonatal death. Hum Mol Genet 2001; 10: 1-8.
    • (2001) Hum Mol Genet , vol.10 , pp. 1-8
    • Putaala, H.1    Soininen, R.2    Kilpelainen, P.3
  • 8
    • 0033536599 scopus 로고    scopus 로고
    • Congenital nephrotic syndrome in mice lacking CD2-associated protein
    • Shih NY, Li J, Karpitskii V et al. Congenital nephrotic syndrome in mice lacking CD2-associated protein. Science 1999; 286: 312-315.
    • (1999) Science , vol.286 , pp. 312-315
    • Shih, N.Y.1    Li, J.2    Karpitskii, V.3
  • 9
    • 0038136885 scopus 로고    scopus 로고
    • CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility
    • Kim JM, Wu H, Green G et al. CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility. Science 2003; 300: 1298-1300.
    • (2003) Science , vol.300 , pp. 1298-1300
    • Kim, J.M.1    Wu, H.2    Green, G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.