Publications:

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

Voskarides, Konstantinos K; Stefanou, Charalambos C; Pieri, Myrtani M; Demosthenous, Panayiota P; Felekkis, Kyriakos K; Arsali, Maria M; Athanasiou, Yiannis Y; Xydakis, Dimitris D; Stylianou, Kostas K; Daphnis, Eugenios E; Goulielmos, Giorgos G; Loizou, Petros P; Savige, Judith J; Höhne, Martin M; Völker, Linus A LA; Benzing, Thomas T; Maxwell, Patrick H PH; Gale, Daniel P DP; Gorski, Mathias M; Böger, Carsten C; Kollerits, Barbara B; Kronenberg, Florian F; Paulweber, Bernhard B; Zavros, Michalis M; Pierides, Alkis A; Deltas, Constantinos C

Publication Date: 2017

Variant appearance in text: PKD1: 3854delG

PubMed Link: 28334007

Variant Present in the following documents:

• Main text
• pone.0174274.pdf

View BVdb publication page

A miR-1207-5p binding site polymorphism abolishes regulation of HBEGF and is associated with disease severity in CFHR5 nephropathy.

Plos One

Papagregoriou, Gregory G; Erguler, Kamil K; Dweep, Harsh H; Voskarides, Konstantinos K; Koupepidou, Panayiota P; Athanasiou, Yiannis Y; Pierides, Alkis A; Gretz, Norbert N; Felekkis, Kyriacos N KN; Deltas, Constantinos C

Publication Date: 2012

Variant appearance in text: PKD1: 3854delG

PubMed Link: 22319602

Variant Present in the following documents:

• Main text
• pone.0031021.pdf

View BVdb publication page