Sophie Saunier 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.
1/2021	Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes.
12/2018	Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model.
6/2005	Nephronophthisis.
3/2005	Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes.

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Sophie Saunier Research Topics

Disease

17	Ciliopathies 01/2022 - 07/2007
6	Cysts 01/2021 - 03/2005
5	Cystic Kidney Diseases (Cystic Kidney Disease) 01/2021 - 03/2005
3	Jeune syndrome 01/2018 - 03/2011
3	familial juvenile Nephronophthisis 05/2005 - 10/2002
2	Kidney Diseases (Kidney Disease) 01/2021 - 05/2005
2	Fibrosis (Cirrhosis) 01/2021 - 03/2005
2	Chronic Kidney Failure (Chronic Renal Failure) 12/2018 - 05/2005
2	Mainzer-Saldino Disease 01/2018 - 11/2013
2	Polycystic Kidney Diseases (Polycystic Kidney Disease) 01/2018 - 12/2009
2	Agenesis of Cerebellar Vermis 12/2017 - 01/2014
2	Meckel syndrome type 1 01/2017 - 04/2015
2	Orofaciodigital Syndromes (Orofaciodigital Syndrome) 01/2016 - 06/2014
2	Polydactyly (Polydactylism) 04/2015 - 01/2014
1	Autosomal Dominant Polycystic Kidney (ADPKD) 01/2021
1	Disease Progression 01/2021
1	Rare Diseases (Rare Disease) 12/2019
1	Ciliary Motility Disorders (Primary Ciliary Dyskinesia) 01/2018
1	Infections 01/2018
1	Cakut 11/2017
1	Breast Neoplasms (Breast Cancer) 11/2017
1	Sclerosing Cholangitis 10/2016
1	Retinal Degeneration 10/2015
1	Microcephaly 08/2014
1	Hereditary renal agenesis 02/2014
1	Coloboma of optic nerve 01/2014
1	Intellectual Disability (Idiocy) 01/2014
1	Retinal Dystrophies 01/2014
1	Penis agenesis 01/2014
1	Obesity 01/2014
1	Wounds and Injuries (Trauma) 01/2013
1	Colonic Neoplasms (Colon Cancer) 10/2010

Drug/Important Bio-Agent (IBA)

23	Proteins (Proteins, Gene)FDA Link 01/2021 - 10/2002
5	Retinaldehyde (Retinal)IBA 12/2018 - 10/2010
2	Carrier Proteins (Binding Protein)IBA 01/2014 - 03/2011
1	Dinoprostone (PGE2)FDA Link 01/2022
1	Heat-Shock Proteins (Heat-Shock Protein)IBA 01/2021
1	UromodulinIBA 01/2021
1	phosphomannomutaseIBA 01/2021
1	Biological ProductsIBA 12/2019
1	Messenger RNA (mRNA)IBA 01/2018
1	tektinsIBA 01/2018
1	RoscovitineIBA 01/2018
1	Cyclin-Dependent Kinases (cdk Proteins)IBA 01/2018
1	Casein Kinases (Casein Kinase)IBA 01/2018
1	Estrogens (Estrogen)FDA Link 11/2017
1	Tretinoin (Retinoic Acid)FDA LinkGeneric 11/2017
1	Tumor Necrosis Factor Receptors (Tumor Necrosis Factor Receptor)IBA 10/2015
1	Membrane Proteins (Integral Membrane Proteins)IBA 04/2015
1	alpha,beta-diacryloxypropionic acid (DAPS)IBA 06/2014
1	integrin alpha8IBA 02/2014
1	IntegrinsIBA 02/2014
1	prenylIBA 01/2014
1	radixinIBA 01/2013
1	ezrinIBA 01/2013
1	moesinIBA 01/2013
1	Sodium-Hydrogen ExchangersIBA 01/2013
1	GTP Phosphohydrolases (GTPases)IBA 01/2013
1	Proteasome Endopeptidase Complex (Proteasome)IBA 09/2012
1	A-Form DNA (A-DNA)IBA 02/2011
1	AntigensIBA 10/2010
1	Mitogen-Activated Protein KinasesIBA 02/2008
1	Hepatocyte Growth Factor (Growth Factor, Hepatocyte)IBA 02/2008
1	CollagenIBA 02/2008
1	SolutionsIBA 05/2005
1	TubulinIBA 03/2005

Therapy/Procedure

3	Therapeutics 01/2021 - 12/2017
1	Precision Medicine 12/2019
1	Liver Transplantation 10/2016