Kolexia
Antignac Corinne
Pédiatrie
Hôpital Necker Enfants Malades
Paris, France
172 Activités
5 Followers

Scientifique
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{{person.topmesh1.name}} Syndrome néphrotique Maladies du rein Cystinose Prédisposition génétique à une maladie Glomérulonéphrite segmentaire et focale Protéinurie Maladies kystiques rénales Défaillance rénale chronique Insuffisance rénale chronique

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SESC
1 collaboration(s)
Dernière en 2020
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Dernières activités

Steroid-Resistant Nephrotic Syndrome due to NPHS2 Variants Is Not Associated With Posttransplant Recurrence
Kidney international reports   10 janvier 2024
Pathophysiological basis of the dominant transmission in NPHS2-associated podocytopathy
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
P168: MUC1 gene coding-VNTR alignment-free genotyping approach augmented ADTKD diagnosis in a cohort of 3735 patients with hereditary kidney diseases
2024 ACMG Annual Clinical Genetics Meeting   01 janvier 2024
P135: X-linked Alport syndrome: From transcriptomic diagnosis to preclinical assessment of splice-switching oligonucleotide therapy using patient-derived cells and kidney organoids*
2024 ACMG Annual Clinical Genetics Meeting   01 janvier 2024
A small molecule chaperone rescues keratin-8 mediated trafficking of misfolded podocin to correct genetic Nephrotic Syndrome.
Kidney international   21 novembre 2023
Dietary supplementation of cystinotic mice by lysine inhibits the megalin pathway and decreases kidney cystine content.
Scientific reports   12 octobre 2023
Adeno-associated virus gene therapy prevents progression of kidney disease in genetic models of nephrotic syndrome.
Science translational medicine   09 août 2023
VNtyper enables accurate alignment-free genotyping of coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease.
iScience   17 juin 2023
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.
Kidney international   23 mai 2023
A wave of deep intronic mutations in X-linked Alport syndrome.
Kidney international   23 mai 2023