2022 - Research.com Best Female Scientist Award
Corinne Antignac mainly investigates Genetics, Internal medicine, Mutation, Endocrinology and Missense mutation. Her Genetics study is mostly concerned with Gene, Alport syndrome, Nephronophthisis, Senior–Løken syndrome and Locus. Her Internal medicine study incorporates themes from Gastroenterology and Compound heterozygosity.
Her Mutation study combines topics from a wide range of disciplines, such as Molecular biology and Podocyte. Her study focuses on the intersection of Endocrinology and fields such as Positional cloning with connections in the field of Loss function and Kidney disorder. Her studies in Kidney integrate themes in fields like Urinary system, Nephrology and Pathology.
Corinne Antignac spends much of her time researching Genetics, Internal medicine, Pathology, Mutation and Endocrinology. Her Genetics study frequently intersects with other fields, such as Nephrotic syndrome. The study incorporates disciplines such as Gastroenterology and Cystinosis in addition to Internal medicine.
Corinne Antignac works mostly in the field of Pathology, limiting it down to concerns involving Nephronophthisis and, occasionally, Ciliopathy. Her Mutation research incorporates themes from Cilium, Mutant and Microcephaly. Her work on Renin–angiotensin system as part of her general Endocrinology study is frequently connected to Cubilin, thereby bridging the divide between different branches of science.
Corinne Antignac focuses on Genetics, Internal medicine, Nephrotic syndrome, Cell biology and Mutation. Her Internal medicine study combines topics in areas such as Gastroenterology and Endocrinology. Her Nephrotic syndrome research incorporates elements of Exome sequencing, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis and Podocyte, Podocin.
She has researched Cell biology in several fields, including Molecular biology, Endocytosis, Zebrafish and Transmembrane protein. Her Mutation research is multidisciplinary, relying on both Phenotype and Microcephaly. Her work deals with themes such as Cystinosis, Intensive care medicine, Cystinosin, Pathology and Kidney, which intersect with Kidney disease.
Her primary areas of investigation include Mutation, Genetics, Zebrafish, Cell biology and Kidney disease. Her Mutation research includes themes of Phenotype and Galloway Mowat syndrome, Microcephaly. Her work is dedicated to discovering how Phenotype, Ichthyosis are connected with Nephrotic syndrome, Endocrinology, Exome sequencing and Internal medicine and other disciplines.
She conducts interdisciplinary study in the fields of Genetics and Non-Mendelian inheritance through her works. Corinne Antignac works mostly in the field of Zebrafish, limiting it down to topics relating to Molecular biology and, in certain cases, Ciliopathy, Microtubule, Nephronophthisis and Cilium, as a part of the same area of interest. Her Kidney disease research is multidisciplinary, incorporating elements of Medullary cystic kidney disease and Pathognomonic, Disease.
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NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome
Nicolas Boute;Olivier Gribouval;Séverine Roselli.
Nature Genetics (2000)
Identification of Mutations in the Alpha-3(iv) and Alpha-4(iv) Collagen Genes in Autosomal Recessive Alport Syndrome
Toshio Mochizuki;Toshio Mochizuki;Henny H. Lemmink;Mariko Mariyama;Corinne Antignac.
Nature Genetics (1994)
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.
Edgar A. Otto;Bernhard Schermer;Tomoko Obara;John F. O'Toole.
Nature Genetics (2003)
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis
M. Town;G. Jean;S. Cherqui;M. Attard.
Nature Genetics (1998)
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
Marion Delous;Lekbir Baala;Rémi Salomon;Christine Laclef;Christine Laclef.
Nature Genetics (2007)
Structure of the Gene for Congenital Nephrotic Syndrome of the Finnish Type (NPHS1) and Characterization of Mutations
Ulla Lenkkeri;Minna Männikkö;Paula McCready;Jane Lamerdin.
American Journal of Human Genetics (1999)
X-linked Alport Syndrome Natural History in 195 Families and Genotype- Phenotype Correlations in Males
Jean Philippe Jais;Bertrand Knebelmann;Iannis Giatras;Mario De Marchi.
Journal of The American Society of Nephrology (2000)
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.
Ralf Birkenhäger;Edgar Otto;Maria J. Schürmann;Martin Vollmer.
Nature Genetics (2001)
NPHS2 mutation analysis shows genetic heterogeneityof steroid-resistant nephrotic syndrome and lowpost-transplant recurrence
Stefanie Weber;Olivier Gribouval;Ernie L. Esquivel;Vincent Morinière.
Kidney International (2004)
Podocin localizes in the kidney to the slit diaphragm area.
Séverine Roselli;Olivier Gribouval;Nicolas Boute;Mireille Sich.
American Journal of Pathology (2002)
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