H. Zappel

A multicenter, randomized, placebo-controlled, double-blind phase 3 trial with open-arm comparison indicates safety and efficacy of nephroprotective therapy with ramipril in children with Alport’s syndrome

Burkhard Tönshoff, Lutz T. Weber, Lars Pape et al. · Kidney International · 2020 · 140 citations · Full text

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment

Shazia Ashraf, Hiroki Kudo, Jia Rao et al. · Nature Communications · 2018 · 119 citations · Full text

HNF1B nephropathy has a slow-progressive phenotype in childhood—with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry

Christine Okorn, Anne Goertz, Udo Vester et al. · Pediatric Nephrology · 2019 · 65 citations · Full text

Neonatal-onset multisystem inflammatory disease (NOMID) due to a novel S331R mutation of theCIAS1 gene and response to interleukin-1 receptor antagonist treatment

C. Boschan, Olaf Witt, P Lohse et al. · American Journal of Medical Genetics Part A · 2006 · 45 citations

Thecias1 Gene, Immunology, Pathology +20

STAR syndrome-associated CDK10/Cyclin M regulates actin network architecture and ciliogenesis

Vincent J. Guen, Carly Gamble, Dahlia E. Perez et al. · Cell Cycle · 2016 · 41 citations · Full text