ERKNet

The European Rare Kidney Disease Reference Network

  

Journal Watch

Hereditary glomerulopathies

Hydroxypropyl-β-cyclodextrin protects from kidney disease in experimental Alport syndrome and focal segmental glomerulosclerosis.
Author(s): Mitrofanova A, Molina J, Varona Santos J, Guzman J, Morales XA, Ducasa GM, Bryn J, Sloan A, Volosenco I, Kim JJ, Ge M, Mallela SK, Kretzler M, Eddy S, Martini S, Wahl P, Pastori S, Mendez AJ, Burke GW, Merscher S, Fornoni A
Source: Kidney Int 2018 Oct 6;
Publication date: 2018-10-6
The mutation-dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessment.
Author(s): Mikó Á, Menyhárd DK, Kaposi A, Antignac C, Tory K
Source: Hum Mutat 2018 Sep 27;
Publication date: 2018-09-27
Nephrotic Syndrome With Mutations in NPHS2: The Role of R229Q and Implications for Genetic Counseling.
Author(s): Rood IM, Deegens JKJ, Lugtenberg D, Bongers EMHF, Wetzels JFM
Source: Am J Kidney Dis 2018 Sep 18;
Publication date: 2018-09-18
JAK-STAT signaling is activated in the kidney and peripheral blood cells of patients with focal segmental glomerulosclerosis.
Author(s): Tao J, Mariani L, Eddy S, Maecker H, Kambham N, Mehta K, Hartman J, Wang W, Kretzler M, Lafayette RA
Source: Kidney Int 2018 Aug 6;
Publication date: 2018-08-6
Expert consensus guidelines for the genetic diagnosis of Alport syndrome.
Author(s): Savige J, Ariani F, Mari F, Bruttini M, Renieri A, Gross O, Deltas C, Flinter F, Ding J, Gale DP, Nagel M, Yau M, Shagam L, Torra R, Ars E, Hoefele J, Garosi G, Storey H
Source: Pediatr Nephrol 2018 Jul 9;
Publication date: 2018-07-9
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