Journal Watch

Hereditary glomerulopathies

FSGS-Causing INF2 Mutation Impairs Cleaved INF2 N-Fragment Functions in Podocytes.
Author(s): Subramanian B, Chun J, Perez-Gill C, Yan P, Stillman IE, Higgs HN, Alper SL, Schlöndorff JS, Pollak MR
Source: J Am Soc Nephrol 2020 Jan 10;
Publication date: 2020-01-10
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells.
Author(s): Daga S, Donati F, Capitani K, Croci S, Tita R, Giliberti A, Valentino F, Benetti E, Fallerini C, Niccheri F, Baldassarri M, Mencarelli MA, Frullanti E, Furini S, Conticello SG, Renieri A, Pinto AM
Source: Eur J Hum Genet 2019 Nov 21;
Publication date: 2019-11-21
Reassessing the pathogenicity of c.2858G>T(p.(G953V)) in COL4A5 Gene: report of 19 Chinese families.
Author(s): Zhang Y, Ding J, Wang S, Zhang H, Zhong X, Liu X, Xu K, Wang F
Source: Eur J Hum Genet 2019 Oct 1;
Publication date: 2019-10-1
Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome.
Author(s): Arrondel C, Missoury S, Snoek R, Patat J, Menara G, Collinet B, Liger D, Durand D, Gribouval O, Boyer O, Buscara L, Martin G, Machuca E, Nevo F, Lescop E, Braun DA, Boschat AC, Sanquer S, Guerrera IC, Revy P, Parisot M, Masson C, Boddaert N, Charbit M, Decramer S, Novo R, Macher MA, Ranchin B, Bacchetta J, Laurent A, Collardeau-Frachon S, van Eerde AM, Hildebrandt F, Magen D, Antignac C, van Tilbeurgh H, Mollet G
Source: Nat Commun 2019 Sep 3;10(1):3967
Publication date: 2019-09-3
Congenital Nephrotic Syndrome in India in the Current Era: A Multicenter Case Series.
Author(s): Sinha R, Vasudevan A, Agarwal I, Sethi SK, Saha A, Pradhan S, Ekambaram S, Thaker N, Matnani M, Banerjee S, Sharma J, Singhal J, Ashraf S, Mandal K
Source: Nephron 2019 Oct 25;:1-9
Publication date: 2019-10-25
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