Christelle Arrondel

Paris, France

Last Updated: 09/26/2026

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Found 21 publications

Splice modulation of COL4A5 reinstates collagen IV assembly in an organoid model of Alport syndrome.

Splice modulation of COL4A5 reinstates collagen IV assembly in an organoid model of Alport syndrome.

Journal: JCI insight

Published: April 22, 2025

Genome sequencing identifies RMND1 as a strong candidate gene for severe prenatal kidney failure mimicking renal tubular dysgenesis associated with hyporeninism.

Genome sequencing identifies RMND1 as a strong candidate gene for severe prenatal kidney failure mimicking renal tubular dysgenesis associated with hyporeninism.

Journal: Pediatric nephrology (Berlin, Germany)

Published: February 20, 2025

Overcoming the challenges associated with identification of deep intronic variants by whole genome sequencing.

Overcoming the challenges associated with identification of deep intronic variants by whole genome sequencing.

Journal: Clinical genetics

Published: November 08, 2022

A wave of deep intronic mutations in X-linked Alport syndrome.

A wave of deep intronic mutations in X-linked Alport syndrome.

Journal: Kidney international

Published: July 05, 2022

Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.

Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.

Journal: Human mutation

Published: October 18, 2021

Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia.

Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia.

Journal: Kidney international

Published: June 26, 2020

Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.

Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: June 20, 2020

Disruption of pathways regulated by Integrator complex in Galloway-Mowat syndrome due to WDR73 mutations.

Disruption of pathways regulated by Integrator complex in Galloway-Mowat syndrome due to WDR73 mutations.

Journal: Scientific reports

Published: May 05, 2020

Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome.

Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome.

Journal: Nature communications

Published: March 18, 2019

Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.

Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.

Journal: PLoS genetics

Published: October 27, 2018

C-terminal oligomerization of podocin mediates interallelic interactions.

C-terminal oligomerization of podocin mediates interallelic interactions.

Journal: Biochimica et biophysica acta. Molecular basis of disease

Published: December 23, 2017

Endoplasmic reticulum-retained podocin mutants are massively degraded by the proteasome.

Endoplasmic reticulum-retained podocin mutants are massively degraded by the proteasome.

Journal: The Journal of biological chemistry

Published: December 05, 2017

Showing 1-12 of 21

Last Updated: 09/26/2026