Corinne Antignac

Chef d'équipe - Professeur des Universités Praticien Hospitalier (PU-PH) | Sophie Saunier et Corinne Antignac

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Corinne Antignac

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Chef d'équipe - Professeur des Universités Praticien Hospitalier (PU-PH)

La recherche : une aventure scientifique

Notre objectif : mieux comprendre les maladies génétiques pour mieux les soigner.

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Ressources & publications

Publications

Kidney Int 2021

Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a rena...
Stem Cell Res 2020

Generation of an induced pluripotent stem cell (iPSC) line (IMAGINi007) from ...
J Clin Invest 2020

Human C-terminal CUBN variants associate with chronic proteinuria and normal ...
Traffic 2016

Lysosomal Targeting of Cystinosin Requires AP-3.
J. Biol. Chem. 2019

Endoplasmic reticulum-retained podocin mutants are massively degraded by the ...
Nat. Genet. 2017

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microc...
J. Clin. Invest. 2019

Human C-terminal CUBN variants associate with chronic proteinuria and normal ...
Nat Commun 2019

Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Gallo...
Am. J. Hum. Genet. 2019

TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via De...