Corinne ANTIGNAC | Institut Imagine

Presentation

Corinne ANTIGNAC

Hereditary Kidney Diseases

Contact :

01 42 75 43 45

corinne.antignac@inserm.fr

About

Scientific Publications

Publications

2025

Splice modulation of COL4A5 reinstates collagen IV assembly in an organoid mo..., JCI Insight
2025

Exome Sequencing in a Large Cohort with Ciliopathy-Related Kidney Disease., Clin J Am Soc Nephrol
2024

Steroid-Resistant Nephrotic Syndrome due to Variants Is Not Associated With ..., Kidney Int Rep
2023

A small molecule chaperone rescues keratin-8 mediated trafficking of misfolde..., Kidney Int
2023

Adeno-associated virus gene therapy prevents progression of kidney disease in..., Sci Transl Med
2023

VNtyper enables accurate alignment-free genotyping of coding VNTR using shor..., iScience
2023

A wave of deep intronic mutations in X-linked Alport syndrome., Kidney Int
2023

The genetic landscape and clinical spectrum of nephronophthisis and related c..., Kidney Int
2023

Overcoming the challenges associated with identification of deep intronic var..., Clin Genet
2022

Agonists of prostaglandin E receptors as potential first in class treatment f..., Proc Natl Acad Sci U S A
2021

Disruption of pathways regulated by Integrator complex in Galloway-Mowat synd..., Sci Rep
2020

Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a rena..., Kidney Int
2020

Generation of an induced pluripotent stem cell (iPSC) line (IMAGINi007) from ..., Stem Cell Res
2020

Pseudouridylation defect due to and mutations causes nephrotic syndrome wit..., Proc Natl Acad Sci U S A
2019

Human C-terminal CUBN variants associate with chronic proteinuria and normal ..., J Clin Invest
2019

Central nervous system complications in adult cystinosis patients., J Inherit Metab Dis
2019

Defects in tA tRNA modification due to GON7 and YRDC mutations lead to Gallow..., Nat Commun
2019

TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via De..., Am J Hum Genet
2018

Endoplasmic reticulum-retained podocin mutants are massively degraded by the ..., J Biol Chem
2017

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microc..., Nat Genet
2017

Targeted Exome Sequencing Identifies as Involved in Monogenic Congenital Ano..., J Am Soc Nephrol
2017

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis an..., J Clin Invest
2016

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YA..., PLoS Genet
2016

Endoplasmic reticulum stress drives proteinuria-induced kidney lesions via Li..., Springer Science and Business Media LLC
2016

Endoplasmic reticulum stress drives proteinuria-induced kidney lesions via Li..., Nat Commun
2015

Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule..., Nat Commun
2015

Lysosomal Targeting of Cystinosin Requires AP-3., Traffic
2012

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations., Am J Hum Genet

Faire un don

Presentation

About

Scientific Publications

Splice modulation of COL4A5 reinstates collagen IV assembly in an organoid mo..., JCI Insight

Exome Sequencing in a Large Cohort with Ciliopathy-Related Kidney Disease., Clin J Am Soc Nephrol

Steroid-Resistant Nephrotic Syndrome due to Variants Is Not Associated With ..., Kidney Int Rep

A small molecule chaperone rescues keratin-8 mediated trafficking of misfolde..., Kidney Int

Adeno-associated virus gene therapy prevents progression of kidney disease in..., Sci Transl Med

VNtyper enables accurate alignment-free genotyping of coding VNTR using shor..., iScience

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

The genetic landscape and clinical spectrum of nephronophthisis and related c..., Kidney Int

Overcoming the challenges associated with identification of deep intronic var..., Clin Genet

Agonists of prostaglandin E receptors as potential first in class treatment f..., Proc Natl Acad Sci U S A

Disruption of pathways regulated by Integrator complex in Galloway-Mowat synd..., Sci Rep

Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a rena..., Kidney Int

Generation of an induced pluripotent stem cell (iPSC) line (IMAGINi007) from ..., Stem Cell Res

Pseudouridylation defect due to and mutations causes nephrotic syndrome wit..., Proc Natl Acad Sci U S A

Human C-terminal CUBN variants associate with chronic proteinuria and normal ..., J Clin Invest

Central nervous system complications in adult cystinosis patients., J Inherit Metab Dis

Defects in tA tRNA modification due to GON7 and YRDC mutations lead to Gallow..., Nat Commun

TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via De..., Am J Hum Genet

Endoplasmic reticulum-retained podocin mutants are massively degraded by the ..., J Biol Chem

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microc..., Nat Genet

Targeted Exome Sequencing Identifies as Involved in Monogenic Congenital Ano..., J Am Soc Nephrol

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis an..., J Clin Invest

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YA..., PLoS Genet

Endoplasmic reticulum stress drives proteinuria-induced kidney lesions via Li..., Springer Science and Business Media LLC

Endoplasmic reticulum stress drives proteinuria-induced kidney lesions via Li..., Nat Commun

Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule..., Nat Commun

Lysosomal Targeting of Cystinosin Requires AP-3., Traffic

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations., Am J Hum Genet