Corinne Antignac - Genetic Mutations

Author Information

Corinne Antignac is a prominent researcher affiliated with the Laboratory of Hereditary Kidney Diseases at the Imagine Institute, INSERM U1163, Paris Descartes University, and the Department of Genetics at the Reference Center for Hereditary Kidney Diseases (MARHEA) at Necker Hospital, APHP, located in Paris, France. Her work primarily focuses on genetic disorders related to kidney diseases, where she actively contributes to both research and clinical practice.

Research Contributions

Corinne Antignac has made significant contributions to the field of genetics, particularly in the study of kidney diseases. Her research encompasses a wide array of topics including the genetic underpinnings of chronic kidney disease, nephrotic syndrome, and ciliopathies. Notably, her work has explored therapeutic avenues such as the use of Prostaglandin E1 in nephronophthisis, the genetic basis of conditions like Galloway-Mowat syndrome, and the development of non-invasive imaging techniques for cystinosis. She has also contributed to international cohort studies and provided recommendations for genetic testing in clinical practice.

Aliases

Corinne Antignac is also known by the aliases C Antignac and C. Antignac in academic publications.

Publication and Citation Metrics

Metric	Value
Total Papers	349
Citation Count	24,893
h-index	92

Publications:

Prostaglandin E1 as therapeutic molecule for Nephronophthisis and related ciliopathies

DOI: 10.1101/2022.01.21.477191

Year: 2022

Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.

DOI: 10.1016/j.kint.2022.03.019

Year: 2022

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

DOI: 10.1038/s41598-021-84472-7

Year: 2021

An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis.

DOI: 10.1016/j.kint.2021.06.019

Year: 2021

Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice

DOI: 10.1093/ndt/gfab218

Year: 2021

Non-invasive intradermal imaging of cystine crystals in cystinosis

DOI: 10.1371/journal.pone.0247846

Year: 2021

Bi-allelic mutations in renin-angiotensin system genes, associated with renal tubular dysgenesis, can also present as a progressive chronic kidney disease

DOI: 10.1007/s00467-020-04524-4

Year: 2020

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

DOI: 10.1073/pnas.2002328117

Year: 2020

Generation of an induced pluripotent stem cell (iPSC) line (IMAGINi007) from a patient with steroid-resistant nephrotic syndrome carrying the homozygous p.R138Q mutation in the podocin-encoding NPHS2 gene.

DOI: 10.1016/j.scr.2020.101878

Year: 2020

Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia.

DOI: 10.1016/j.kint.2020.09.029

Year: 2020

Is Germline Editing Ethical?

How Does Genetic Counseling Help?

What Are the Implications of Genetic Research on ASD?

How Does Base Editing Work?

What are the Symptoms?

How is Benzene Exposure Related to Genetic Mutations?

Are All Nucleotide Mutations Harmful?

What are the advantages of using ZFNs?

What is the Future of CFTR Gene Research?

How are Patients Monitored During TKI Therapy?

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