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Publications by Corinne Antignac

Mutations in KEOPS-complex Genes Cause Nephrotic Syndrome With Primary Microcephaly

Nature Genetics

English

TBC1D8B Loss-Of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways

American Journal of Human Genetics

English

Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability

American Journal of Human Genetics

English

Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans

American Journal of Human Genetics

English

Arhgap24 Inactivates Rac1 in Mouse Podocytes, and a Mutant Form Is Associated With Familial Focal Segmental Glomerulosclerosis

Journal of Clinical Investigation

English

Correction: A Homozygous KAT2B Variant Modulates the Clinical Phenotype of ADD3 Deficiency in Humans and Flies

Molecular Biology

Cancer Research

English

Impact of Cystinosin Glycosylation on Protein Stability by Differential Dynamic Stable Isotope Labeling by Amino Acids in Cell Culture (SILAC)

Molecular and Cellular Proteomics

Analytical Chemistry

Molecular Biology

English

Podocin Oligomerization Revealed by FRET Analysis: Sites of Interallelic Interactions

Biophysical Journal

English

Clinical Utility Gene Card For: Cystinosis

European Journal of Human Genetics

English

Nephrocystin-1 Forms a Complex With Polycystin-1 via a Polyproline Motif/Sh3 Domain Interaction and Regulates the Apoptotic Response in Mammals

Multidisciplinary

English