Corinne Antignac Selected Research

Cystic Kidney Diseases (Cystic Kidney Disease)

1/2021	Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia.
1/2020	Bi-allelic mutations in renin-angiotensin system genes, associated with renal tubular dysgenesis, can also present as a progressive chronic kidney disease.
3/2014	Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1.
3/2013	Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.
6/2005	Nephronophthisis.
3/2005	Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes.
7/2003	Imaging medullary cystic kidney disease with magnetic resonance.

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Corinne Antignac Research Topics

Disease

27	Cystinosis 11/2021 - 10/2001
25	Nephrotic Syndrome (Syndrome, Nephrotic) 01/2020 - 04/2002
13	Chronic Kidney Failure (Chronic Renal Failure) 11/2021 - 05/2005
11	Proteinuria 01/2020 - 06/2005
10	Hereditary Nephritis (Alport Syndrome) 03/2015 - 04/2000
8	Kidney Diseases (Kidney Disease) 01/2021 - 04/2002
7	Cystic Kidney Diseases (Cystic Kidney Disease) 01/2021 - 07/2003
6	Ciliopathies 01/2022 - 07/2007
6	Focal Segmental Glomerulosclerosis (Glomerulosclerosis, Focal) 11/2019 - 08/2004
6	Renal Insufficiency (Renal Failure) 03/2014 - 11/2003
4	Cysts 01/2021 - 03/2005
4	Fibrosis (Cirrhosis) 01/2021 - 03/2005
4	Albuminuria 01/2020 - 09/2008
3	Disease Progression 11/2019 - 11/2002
3	Fanconi Syndrome (Syndrome, Fanconi) 11/2019 - 06/2014
3	Hyperuricemia 01/2012 - 08/2009
3	familial juvenile Nephronophthisis 05/2005 - 10/2002
2	Anuria 01/2020 - 09/2005
2	Lysosomal Storage Diseases (Lysosomal Storage Disease) 11/2019 - 05/2014
2	Inflammation (Inflammations) 01/2019 - 11/2013
2	Hereditary renal agenesis 02/2014 - 07/2011
2	Infections 02/2014 - 04/2005
2	Multicystic Dysplastic Kidney (Multicystic Kidney) 01/2014 - 07/2011
2	Juvenile gout 01/2012 - 11/2003
2	Interstitial Nephritis (Tubulointerstitial Nephritis) 01/2012 - 11/2003
2	diffuse Mesangial sclerosis 07/2010 - 04/2005
2	Hematuria 01/2006 - 06/2005
2	Hearing Loss (Hearing Impairment) 10/2003 - 04/2000
2	Inborn Genetic Diseases (Disease, Hereditary) 10/2003 - 04/2000
2	Nephritis 10/2003 - 04/2000
2	Hypokalemia 02/2003 - 09/2002
1	Rare Diseases (Rare Disease) 11/2021
1	Autosomal Dominant Polycystic Kidney (ADPKD) 01/2021
1	Ascites 12/2019
1	Weight Loss (Weight Reduction) 12/2019
1	Galloway Mowat syndrome 01/2019
1	Brain Diseases (Brain Disorder) 11/2018
1	Intellectual Disability (Idiocy) 01/2018
1	Cataract (Cataracts) 01/2018
1	Cardiomyopathies (Cardiomyopathy) 01/2018
1	Microcephaly 01/2018
1	Ichthyosis (Xeroderma) 03/2017
1	Nephrosis 03/2017
1	Adrenal Insufficiency (Adrenal Gland Hypofunction) 03/2017

Drug/Important Bio-Agent (IBA)

28	Proteins (Proteins, Gene)FDA Link 01/2021 - 08/2002
24	Cystine (L-Cystine)IBA 11/2021 - 10/2001
16	NPHS2 proteinIBA 01/2020 - 04/2002
6	Cysteamine (Mercaptamine)FDA Link 11/2021 - 11/2002
6	UromodulinIBA 01/2021 - 11/2003
6	Collagen Type IV (Type IV Collagen)IBA 12/2014 - 04/2000
4	Biomarkers (Surrogate Marker)IBA 01/2021 - 07/2007
4	ReninIBA 12/2019 - 09/2005
4	CollagenIBA 03/2015 - 04/2002
4	SteroidsIBA 06/2014 - 04/2005
4	nephrinIBA 07/2010 - 04/2005
3	intrinsic factor-cobalamin receptorIBA 01/2020 - 11/2013
3	SodiumIBA 01/2020 - 06/2014
3	Low Density Lipoprotein Receptor-Related Protein-2IBA 11/2019 - 11/2013
3	DisulfidesIBA 11/2019 - 03/2003
3	Mucin-1 (CA 15-3 Antigen)IBA 10/2015 - 03/2013
3	Retinaldehyde (Retinal)IBA 07/2011 - 06/2005
2	Peptidyl-Dipeptidase A (Angiotensin Converting Enzyme)IBA 01/2020 - 09/2005
2	LigandsIBA 01/2020 - 11/2013
2	Fibrinolysin FDA Link 01/2020 - 12/2019
2	Apolipoprotein L1IBA 11/2019 - 01/2019
2	Messenger RNA (mRNA)IBA 01/2019 - 11/2013
2	Protons (Proton)IBA 01/2017 - 09/2014
2	coenzyme Q10 (CoQ10)IBA 01/2016 - 12/2013
2	CytosineIBA 03/2014 - 03/2013
2	Uric Acid (Urate)IBA 10/2011 - 11/2003
2	Amino Acids FDA Link 08/2009 - 03/2003
2	CreatinineIBA 08/2008 - 01/2008
1	Dinoprostone (PGE2)FDA Link 01/2022
1	Heat-Shock Proteins (Heat-Shock Protein)IBA 01/2021
1	theasinensin AIBA 01/2020
1	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 01/2020
1	VitaminsIBA 01/2020
1	AlbuminsIBA 01/2020
1	Urokinase-Type Plasminogen Activator (Urokinase)FDA Link 12/2019
1	Peptide Hydrolases (Proteases)FDA Link 12/2019
1	PlasminogenIBA 12/2019
1	Amiloride (Midamor)FDA LinkGeneric 12/2019
1	Blood Proteins (Serum Proteins)IBA 11/2019
1	Carrier Proteins (Binding Protein)IBA 01/2019
1	Transfer RNA (tRNA)IBA 01/2019
1	CytokinesIBA 01/2019
1	GalactosidasesIBA 01/2019
1	Chemokine CCL2 (Monocyte Chemoattractant Protein 1)IBA 01/2019
1	Pharmaceutical PreparationsIBA 01/2019
1	Galectin 3 (LGALS3)IBA 01/2019
1	Tripartite Motif ProteinsIBA 11/2018
1	Lysine AcetyltransferasesIBA 01/2018
1	adducinIBA 01/2018
1	sphingosine 1-phosphate (sphingosine-1-phosphate)IBA 03/2017
1	LyasesIBA 03/2017
1	sphingosine 1-phosphate lyase (aldolase)IBA 03/2017
1	Lipocalin-2IBA 01/2016

Therapy/Procedure

7	Therapeutics 11/2021 - 11/2002
5	Transplantation 06/2014 - 07/2010
4	Kidney Transplantation 01/2019 - 08/2004