List of works - Céline Schaeffer

A single internal ribosome entry site containing a G quartet RNA structure drives fibroblast growth factor 2 gene expression at four alternative translation initiation codons.

scientific article published on 11 July 2003

A transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary concentrating defect and renal failure.

scientific article published on 14 May 2010

Association of estimated glomerular filtration rate and urinary uromodulin concentrations with rare variants identified by UMOD gene region sequencing

scientific article published on 31 May 2012

Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein

scientific article published on 12 August 2019

Common noncoding UMOD gene variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expression

scientific article

Cryo-EM structure of native human uromodulin, a zona pellucida module polymer

scientific article published on 16 November 2020

Early involvement of cellular stress and inflammatory signals in the pathogenesis of tubulointerstitial kidney disease due to UMOD mutations

scientific article

FMRP interferes with the Rac1 pathway and controls actin cytoskeleton dynamics in murine fibroblasts.

scientific article published on 9 February 2005

Hepatitis B virus X protein stimulates viral genome replication via a DDB1-dependent pathway distinct from that leading to cell death

scientific article

Mutant uromodulin expression leads to altered homeostasis of the endoplasmic reticulum and activates the unfolded protein response.

scientific article

Protein trafficking defects in inherited kidney diseases

scientific article

Regulation of IRE1 RNase activity by the Ribonuclease inhibitor 1 (RNH1)

scientific article published on 05 September 2018

The G-quartet containing FMRP binding site in FMR1 mRNA is a potent exonic splicing enhancer

scientific journal article

The RNA binding protein FMRP: new connections and missing links.

scientific article

The serine protease hepsin mediates urinary secretion and polymerisation of Zona Pellucida domain protein uromodulin.

scientific article published on 17 December 2015

Urinary secretion and extracellular aggregation of mutant uromodulin isoforms.

scientific article published on 11 January 2012

[Mutant uromodulin is secreted in the urine of patients with familial hyperuricemic nephropathy and induces the formation of extracellular aggregates]

scientific article published on 01 March 2012

List of works by Céline Schaeffer

A single internal ribosome entry site containing a G quartet RNA structure drives fibroblast growth factor 2 gene expression at four alternative translation initiation codons.

A transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary concentrating defect and renal failure.

Association of estimated glomerular filtration rate and urinary uromodulin concentrations with rare variants identified by UMOD gene region sequencing

Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein

Common noncoding UMOD gene variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expression

Cryo-EM structure of native human uromodulin, a zona pellucida module polymer

Early involvement of cellular stress and inflammatory signals in the pathogenesis of tubulointerstitial kidney disease due to UMOD mutations

FMRP interferes with the Rac1 pathway and controls actin cytoskeleton dynamics in murine fibroblasts.

Hepatitis B virus X protein stimulates viral genome replication via a DDB1-dependent pathway distinct from that leading to cell death

Mutant uromodulin expression leads to altered homeostasis of the endoplasmic reticulum and activates the unfolded protein response.

Protein trafficking defects in inherited kidney diseases

Regulation of IRE1 RNase activity by the Ribonuclease inhibitor 1 (RNH1)

The G-quartet containing FMRP binding site in FMR1 mRNA is a potent exonic splicing enhancer

The RNA binding protein FMRP: new connections and missing links.

The serine protease hepsin mediates urinary secretion and polymerisation of Zona Pellucida domain protein uromodulin.

Urinary secretion and extracellular aggregation of mutant uromodulin isoforms.

[Mutant uromodulin is secreted in the urine of patients with familial hyperuricemic nephropathy and induces the formation of extracellular aggregates]