Daniel G Bichet Selected Research

Nephrogenic Diabetes Insipidus

8/2020	GENETICS IN ENDOCRINOLOGY Pathophysiology, diagnosis and treatment of familial nephrogenic diabetes insipidus.
4/2017	Nephrogenic diabetes insipidus.
1/2016	Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant).
1/2016	Functional Recovery of AQP2 Recessive Mutations Through Hetero-Oligomerization with Wild-Type Counterpart.
6/2012	Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus-update and epidemiology.
6/2011	Novel mutation in the AVPR2 gene in a Danish male with nephrogenic diabetes insipidus caused by ER retention and subsequent lysosomal degradation of the mutant receptor.
12/2010	A de novo novel missense mutation in AVPR2 with severe nephrogenic diabetes insipidus.
7/2010	Stimulating effect of external Myo-inositol on the expression of mutant forms of aquaporin 2.
6/2010	New autosomal recessive mutations in aquaporin-2 causing nephrogenic diabetes insipidus through deficient targeting display normal expression in Xenopus oocytes.
1/2010	Vasopressin type 2 receptor V88M mutation: molecular basis of partial and complete nephrogenic diabetes insipidus.

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Daniel G Bichet Research Topics

Disease

26	Fabry Disease (Fabry's Disease) 12/2021 - 01/2007
26	Nephrogenic Diabetes Insipidus 08/2020 - 06/2000
8	Autosomal Dominant Polycystic Kidney (ADPKD) 09/2021 - 06/2012
5	Diabetes Insipidus 01/2022 - 07/2005
5	Hyponatremia 10/2014 - 04/2010
4	Neurogenic Diabetes Insipidus (Central Diabetes Insipidus) 10/2017 - 10/2005
3	Disease Progression 12/2021 - 10/2015
3	Chronic Renal Insufficiency 09/2021 - 12/2014
3	Inborn Genetic Diseases (Disease, Hereditary) 01/2016 - 10/2004
3	Dehydration (Water Stress) 01/2016 - 11/2012
3	Polyuria 12/2014 - 04/2010
3	Polycystic Kidney Diseases (Polycystic Kidney Disease) 11/2012 - 07/2011
2	Rare Diseases (Rare Disease) 08/2020 - 06/2000
2	Cysts 01/2019 - 02/2014
2	Diarrhea 01/2019 - 01/2018
2	Diabetes Mellitus 10/2017 - 12/2014
2	Bartter Syndrome (Syndrome, Bartter) 04/2017 - 01/2009
2	Nephrogenic Syndrome of Inappropriate Antidiuresis 10/2012 - 04/2012
2	Hypoxia (Hypoxemia) 01/2012 - 08/2006
2	Cystic Fibrosis (Mucoviscidosis) 07/2010 - 05/2008
1	Pain (Aches) 01/2021
1	X-Linked Genetic Diseases 01/2020
1	Pre-Eclampsia (Preeclampsia) 08/2019
1	Polyhydramnios 04/2017
1	Hyperglycemia 01/2017
1	Cardiomyopathies (Cardiomyopathy) 01/2017
1	Type 2 Diabetes Mellitus (MODY) 05/2015
1	Metabolic Syndrome (Dysmetabolic Syndrome X) 05/2015
1	Fatty Liver 05/2015
1	Glucose Intolerance 05/2015
1	Glycosuria 12/2014
1	Chronic Disease (Chronic Diseases) 12/2014
1	Obesity 01/2014
1	Hemorrhage 01/2014
1	Asthma (Bronchial Asthma) 01/2014
1	Idiopathic Hypogonadotropic Hypogonadism 01/2014
1	type 1 familial Hypocalciuric hypercalcemia 01/2014
1	Seizures (Absence Seizure) 04/2012

Drug/Important Bio-Agent (IBA)

30	Vasopressins (Vasopressin)IBA 01/2022 - 04/2002
17	Vasopressin Receptors (Arginine Vasopressin Receptor)IBA 08/2020 - 06/2000
12	migalastatIBA 12/2021 - 01/2015
11	Aquaporin 2IBA 06/2012 - 04/2002
10	Arginine Vasopressin (Argipressin)IBA 08/2020 - 04/2002
8	GalactosidasesIBA 08/2020 - 12/2010
7	Proteins (Proteins, Gene)FDA Link 08/2019 - 10/2004
7	SodiumIBA 10/2014 - 07/2005
6	Aquaporins (Water Channels)IBA 08/2020 - 06/2002
5	Deamino Arginine Vasopressin (Desmopressin)FDA LinkGeneric 01/2022 - 07/2005
5	Tolvaptan FDA Link 09/2021 - 04/2010
5	Biomarkers (Surrogate Marker)IBA 08/2020 - 12/2010
4	agalsidase beta FDA Link 01/2019 - 01/2007
4	globotriaosylceramide (globotriosylceramide)IBA 01/2019 - 03/2008
3	agalsidase alfaIBA 12/2021 - 01/2015
3	globotriaosyl lysosphingolipidIBA 01/2021 - 12/2010
3	EnzymesIBA 08/2020 - 03/2008
3	ElectrolytesIBA 10/2014 - 12/2012
2	alpha-Galactosidase (Beano)IBA 12/2021 - 03/2008
2	Sodium Chloride FDA LinkGeneric 04/2017 - 01/2009
2	GlycosphingolipidsIBA 01/2016 - 12/2010
2	Glucose (Dextrose)FDA LinkGeneric 05/2015 - 12/2014
2	Hormones (Hormone)IBA 12/2014 - 04/2012
2	lixivaptanIBA 12/2012 - 12/2012
2	IonsIBA 06/2012 - 05/2006
2	Antidiuretic Hormone Receptor AntagonistsIBA 04/2010 - 08/2004
1	podocalyxinIBA 08/2019
1	NPHS2 proteinIBA 08/2019
1	Adenosine Monophosphate (AMP)IBA 01/2019
1	Dietary SodiumIBA 01/2018
1	AcidsIBA 01/2018
1	ProinsulinIBA 10/2017
1	proAVP hormoneIBA 10/2017
1	Membrane Proteins (Integral Membrane Proteins)IBA 04/2017
1	SphingolipidsIBA 01/2017
1	Phenobarbital (Luminal)FDA Link 01/2016
1	Insulin (Novolin)FDA Link 05/2015
1	CholesterolIBA 05/2015
1	Triglycerides (Triacylglycerol)IBA 05/2015
1	Pyruvic Acid (Pyruvate)IBA 05/2015
1	Nonsense Codon (Nonsense Mutation)IBA 02/2014
1	G-Protein-Coupled Receptors (Receptors, G Protein Coupled)IBA 01/2014
1	Rhodopsin (Visual Purple)IBA 01/2014
1	Parathyroid Hormone (Parathormone)IBA 01/2014
1	NeuropeptidesIBA 01/2014
1	Thyrotropin (Thyroid-Stimulating Hormone)FDA Link 01/2014
1	Endothelins (Endothelin)IBA 01/2014
1	Gonadotropin-Releasing Hormone (GnRH)FDA Link 01/2014
1	Luteinizing Hormone (Lutropin)FDA LinkGeneric 01/2014
1	Follicle Stimulating Hormone (Follitropin)FDA Link 01/2014
1	GTP-Binding Proteins (G-Protein)IBA 01/2014
1	Melanocortin Receptors (Melanocortin Receptor)IBA 01/2014
1	Calcium-Sensing ReceptorsIBA 01/2014
1	MelanocortinsIBA 01/2014
1	Adrenocorticotropic Hormone (ACTH)FDA Link 01/2014
1	Urea (Carbamide)FDA LinkGeneric 06/2012
1	Cystinyl AminopeptidaseIBA 01/2012
1	Blood Coagulation Factors (Coagulation Factor)IBA 07/2011

Therapy/Procedure

8	Therapeutics 01/2022 - 01/2007
8	Enzyme Replacement Therapy 12/2021 - 01/2015
1	Bioreactors (Bioreactor) 12/2021
1	Time-to-Treatment 01/2016