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A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population

Chatziantoniou, Christos , Voskarides, Konstantinos, Stefanou, Charalambos, Pieri, Myrtani, Demosthenous, Panayiota , Felekkis, Kyriakos, Arsali, Maria, Athanasiou, Yiannis, Xydakis, Dimitris , Stylianou, Kostas, Daphnis, Eugenios, Goulielmos, Giorgos, Loizou, Petros, Savige, Judith, Höhne, Martin, Völker, Linus A., Benzing, Thomas , Maxwell, Patrick H. , Gale, Daniel P., Gorski, Mathias, Böger, Carsten, Kollerits, Barbara , Kronenberg, Florian, Paulweber, Bernhard, Zavros, Michalis, Pierides, Alkis and Deltas, Constantinos (2017) A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population. PLOS ONE 12 (3), e0174274.

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Other URL: http://doi.org/10.1371/journal.pone.0174274

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Abstract

Background Recent data emphasize that thin basement membrane nephropathy (TBMN) should not be viewed as a form of benign familial hematuria since chronic renal failure (CRF) and even end-stage renal disease (ESRD), is a possible development for a subset of patients on longterm follow-up, through the onset of focal and segmental glomerulosclerosis (FSGS). We hypothesize that genetic modifiers may ...

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Item type:Article
Date:2017
Institutions:Medicine > Abteilung für Nephrologie
Medicine > Institut für Epidemiologie und Präventivmedizin > Lehrstuhl für Genetische Epidemiologie
Identification Number:
ValueType
10.1371/journal.pone.0174274DOI
Keywords:FOCAL SEGMENTAL GLOMERULOSCLEROSIS; BASEMENT-MEMBRANE NEPHROPATHY; ENDOPLASMIC-RETICULUM STRESS; BENIGN FAMILIAL HEMATURIA; CHRONIC KIDNEY-DISEASE; IGA NEPHROPATHY; ALPORT-SYNDROME; SLIT DIAPHRAGM; MUTATIONS; PROTEINURIA;
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Yes
Item ID:38591
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