The European Rare Kidney Disease Reference Network


Journal Watch

Hereditary glomerulopathies

Contributions of Rare Gene Variants to Familial and Sporadic FSGS.
Author(s): Wang M, Chun J, Genovese G, Knob AU, Benjamin A, Wilkins MS, Friedman DJ, Appel GB, Lifton RP, Mane S, Pollak MR
Source: J Am Soc Nephrol 2019 Jul 15;
Publication date: 2019-07-15
Contribution of Coiled-Coil Assembly to Ca2+/Calmodulin-Dependent Inactivation of TRPC6 Channel and its Impacts on FSGS-Associated Phenotypes.
Author(s): Polat OK, Uno M, Maruyama T, Tran HN, Imamura K, Wong CF, Sakaguchi R, Ariyoshi M, Itsuki K, Ichikawa J, Morii T, Shirakawa M, Inoue R, Asanuma K, Reiser J, Tochio H, Mori Y, Mori MX
Source: J Am Soc Nephrol 2019 Jul 2;
Publication date: 2019-07-2
Variations of type IV collagen-encoding genes in patients with histological diagnosis of focal segmental glomerulosclerosis.
Author(s): Demir E, Caliskan Y
Source: Pediatr Nephrol 2019 Jun 28;
Publication date: 2019-06-28
Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature.
Author(s): Domingo-Gallego A, Furlano M, Pybus M, Barraca D, Martínez AB, Mora Muñoz E, Torra R, Ars E
Source: BMC Nephrol 2019 Apr 11;20(1):126
Publication date: 2019-04-11
Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children.
Author(s): Vivante A, Chacham OS, Shril S, Schreiber R, Mane SM, Pode-Shakked B, Soliman NA, Koneth I, Schiffer M, Anikster Y, Hildebrandt F
Source: Pediatr Nephrol 2019 Apr 17;
Publication date: 2019-04-17
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