Ontology highlight
ABSTRACT:
SUBMITTER: Holthofer H
PROVIDER: S-EPMC1866978 | biostudies-literature | 1999 Nov
REPOSITORIES: biostudies-literature
Holthöfer H H Ahola H H Solin M L ML Wang S S Palmen T T Luimula P P Miettinen A A Kerjaschki D D
The American journal of pathology 19991101 5
Defects in the newly reported gene NPHS1 in chromosome 19 cause the massive proteinuria of Finnish type congenital nephrotic syndrome (CNF). Together with its gene product, nephrin, NPHS1 is providing new understanding of the pathophysiological mechanisms of glomerular filtration. Here we show the characteristic splicing of NPHS1 mRNA in the normal and CNF kidneys and localize nephrin exclusively in the glomerulus and to the filtration slit area by light and immunoelectron microscopy. These resu ...[more]