PMID- 10550324 OWN - NLM STAT- MEDLINE DCOM- 19991130 LR - 20181113 IS - 0002-9440 (Print) IS - 0002-9440 (Linking) VI - 155 IP - 5 DP - 1999 Nov TI - Nephrin localizes at the podocyte filtration slit area and is characteristically spliced in the human kidney. PG - 1681-7 AB - 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 results indicate that nephrin is a new protein of the interpodocyte filtration slit area with a profound role in the pathophysiology of the filtration barrier. FAU - Holthofer, H AU - Holthofer H AD - Division of Bacteriology, Haartman Institute, University of Helsinki, Helsinki, Finland. harry.holthofer@helsinki.fi FAU - Ahola, H AU - Ahola H FAU - Solin, M L AU - Solin ML FAU - Wang, S AU - Wang S FAU - Palmen, T AU - Palmen T FAU - Luimula, P AU - Luimula P FAU - Miettinen, A AU - Miettinen A FAU - Kerjaschki, D AU - Kerjaschki D LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Am J Pathol JT - The American journal of pathology JID - 0370502 RN - 0 (Membrane Proteins) RN - 0 (Protein Isoforms) RN - 0 (Proteins) RN - 0 (RNA, Messenger) RN - 0 (nephrin) SB - IM MH - Amino Acid Sequence MH - Base Sequence MH - Humans MH - Immunohistochemistry MH - Kidney Glomerulus/*metabolism/pathology/ultrastructure MH - Membrane Proteins MH - Microscopy, Immunoelectron MH - Molecular Sequence Data MH - Nephrotic Syndrome/*metabolism/pathology MH - Protein Isoforms/genetics/metabolism MH - Proteins/genetics/*metabolism MH - RNA Splicing MH - RNA, Messenger/analysis/genetics PMC - PMC1866978 EDAT- 1999/11/07 00:00 MHDA- 1999/11/07 00:01 CRDT- 1999/11/07 00:00 PHST- 1999/11/07 00:00 [pubmed] PHST- 1999/11/07 00:01 [medline] PHST- 1999/11/07 00:00 [entrez] AID - S0002-9440(10)65483-1 [pii] AID - 10.1016/S0002-9440(10)65483-1 [doi] PST - ppublish SO - Am J Pathol. 1999 Nov;155(5):1681-7. doi: 10.1016/S0002-9440(10)65483-1.