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izvor podataka: crosbi

Genome-wide association and functional follow-up reveals new loci for kidney function (CROSBI ID 211365)

Prilog u časopisu | izvorni znanstveni rad | međunarodna recenzija

(CARDIoGRAM Consortium ; ICBP Consortium ; CARe Consortium ; Wellcome Trust Case Control Consortium 2 (WTCCC2)) Pattaro, C. ; ... ; Gorski, M. ; ... ; Glazer, N. ; ... ; ... ; Kolčić, Ivana ; Zemunik, Tatjana ; Boban, Mladen et al. Genome-wide association and functional follow-up reveals new loci for kidney function // PLOS genetics, 8 (2012), 3; e1002584, 15. doi: 10.1371/journal.pgen.1002584

Podaci o odgovornosti

Pattaro, C. ; ... ; Gorski, M. ; ... ; Glazer, N. ; ... ; ... ; Kolčić, Ivana ; Zemunik, Tatjana ; Boban, Mladen ; ... ; Polašek, Ozren ; ... ; Rudan, Igor ; ... ; Fox, C. S.

CARDIoGRAM Consortium ; ICBP Consortium ; CARe Consortium ; Wellcome Trust Case Control Consortium 2 (WTCCC2)

engleski

Genome-wide association and functional follow-up reveals new loci for kidney function

Chronic kidney disease (CKD) is an important public health problem with a genetic component. We performed genome-wide association studies in up to 130, 600 European ancestry participants overall, and stratified for key CKD risk factors. We uncovered 6 new loci in association with estimated glomerular filtration rate (eGFR), the primary clinical measure of CKD, in or near MPPED2, DDX1, SLC47A1, CDK12, CASP9, and INO80. Morpholino knockdown of mpped2 and casp9 in zebrafish embryos revealed podocyte and tubular abnormalities with altered dextran clearance, suggesting a role for these genes in renal function. By providing new insights into genes that regulate renal function, these results could further our understanding of the pathogenesis of CKD.

CKD ; genetic ; mpped2 ; casp9

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Podaci o izdanju

8 (3)

2012.

e1002584

15

objavljeno

1553-7390

1553-7404

10.1371/journal.pgen.1002584

Povezanost rada

Temeljne medicinske znanosti

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