Daniel Georges Bichet
- [Nephrogenic diabetes insipidus]Daniel Georges Bichet
Génétique des maladies rénales, Service de Nephrologie, départements de médecine et de physiologie, Centre de Recherche, Hopital du Sacre Coeur de Montreal, Universite de Montreal, Montreal Quebec, Canada
Nephrol Ther 2:387-404. 2006....
- Vasopressin receptor mutations in nephrogenic diabetes insipidusDaniel G Bichet
Genetics of Renal Diseases, Groupe d Etude des Protéines, Membranaires, Montreal, Quebec, Canada
Semin Nephrol 28:245-51. 2008..Finally, a long-term careful surveillance of all patients with hereditary NDI should be performed to prevent chronic renal failure likely caused by the long-term functional tract obstruction with reflux...
- β3-Adrenoreceptors in the thick ascending limb of Henle and in principal cells of the collecting duct work to concentrate urineDaniel G Bichet
Department of Medicine and Molecular and Integrative Physiology, University of Montreal, Montreal, Quebec, Canada Service de néphrologie, Hopital du Sacre Coeur de Montreal, Montreal, Quebec, Canada Electronic address
Kidney Int 90:471-3. 2016....
- Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant)Daniel G Bichet
Department of Medicine, Universite de Montreal, Canada Department of Molecular and Integrative Physiology, Universite de Montreal, Canada Hôpital du Sacré Coeur de Montréal, 5400 Boul Gouin Ouest, Montreal, QC, Canada H4J 1C5 Electronic address
Best Pract Res Clin Endocrinol Metab 30:263-76. 2016..Prior knowledge of AVPR2 or AQP2 mutations in NDI families and perinatal mutation testing is of direct clinical value and can avert the physical and mental retardation associated with repeated episodes of dehydration. ..
- Physiopathology of hereditary polyuric states: a molecular view of renal functionDaniel G Bichet
Universite de Montreal, Canada
Swiss Med Wkly 142:w13613. 2012..This genomic information is key to the routine care of patients with congenital polyuria and, as in other genetic diseases, reduces health costs and confers psychological benefits on patients and families...
- Genetics and diagnosis of central diabetes insipidusDaniel G Bichet
Departments of Medicine and Physiology, University of Montreal, Hôpital du Sacré Cœur de Montréal, Quebec, Canada
Ann Endocrinol (Paris) 73:117-27. 2012..In addition, simple, inexpensive blood and urine measurements together with clinical characteristics and brain magnetic resonance imaging (MRI) could distinguish between central, nephrogenic and polydipsic cases...
- Hereditary polyuric disorders: new concepts and differential diagnosisDaniel G Bichet
Groupe d Etude des Protéines Membranaires and the Université de Montréal, Research Centre and Nephrology Service, Hopital du Sacre Coeur de Montreal, Montreal, Quebec, Canada
Semin Nephrol 26:224-33. 2006..The purpose of this article is to increase the general awareness of these congenital NDI patients to prevent severe episodes of dehydration and provide precise molecular diagnosis and treatment...
- Nephrogenic diabetes insipidusDaniel G Bichet
Centre de Recherche, Hôpital du Sacré Couer de Montréal, Montreal, Quebec, Canada
Adv Chronic Kidney Dis 13:96-104. 2006....
- [Nobel Prize for Chemistry 2003. Water channels and ionic channels]Daniel G Bichet
Groupe d étude des protéines membranaires, Universite de Montreal, Service Néphrologie Génétique, Hopital du Sacre Coeur de Montreal, 5400, boulevard Gouin Ouest, Montreal, Quebec, H4J 1C5, Canada
Med Sci (Paris) 19:1289-90. 2003
- Characterization of D150E and G196D aquaporin-2 mutations responsible for nephrogenic diabetes insipidus: importance of a mild phenotypeCécile Guyon
Groupe d étude des protéines membranaires, Departement de Physiologie, Universite de Montreal, Montreal, Quebec, Canada
Am J Physiol Renal Physiol 297:F489-98. 2009..These results essentially recapitulate the clinical profiles of the family members, showing a typical dominant negative effect when G196D is coinjected with either AQP2-wt or D150E but not between AQP2-wt and D150E mutant...
- New autosomal recessive mutations in aquaporin-2 causing nephrogenic diabetes insipidus through deficient targeting display normal expression in Xenopus oocytesAlexandre Leduc-Nadeau
Groupe d étude des protéines membranaires GÉPROM, Departement de Physiologie, Universite de Montreal, Montreal, Quebec, Canada
J Physiol 588:2205-18. 2010..The discrepancies in plasma membrane targeting response found in both expression systems stress the need to evaluate such data using mammalian cell systems...
- Wilms tumor arising in a child with X-linked nephrogenic diabetes insipidusReyhan El-Kares
Department of Pediatrics, Montreal Children s Hospital Research Institute, 4060 Ste Catherine West, Montreal, Quebec, Canada
Pediatr Nephrol 24:1313-9. 2009..The concurrence of WT and NDI has not been previously reported and may be unrelated. Nevertheless, this case nicely illustrates the sequence of events leading to sporadic Wilms tumor...
- Pharmacologic chaperones as a potential treatment for X-linked nephrogenic diabetes insipidusVirginie Bernier
Department of Biochemistry, Groupe de Recherche Universitaire sur le Médicament, Hopital du Sacre Coeur de Montreal, 5400 Boulevard Gouin Ouest, Montreal, Quebec, H4J 1C5 Canada
J Am Soc Nephrol 17:232-43. 2006..This therapeutic approach could be applied to the treatment of several hereditary diseases that result from errors in protein folding and kinesis...
- Two novel aquaporin-2 mutations responsible for congenital nephrogenic diabetes insipidus in Chinese familiesShih Hua Lin
Division of Nephrology, Department of Medicine, Tri Service General Hospital, National Defense Medical Center, Montreal, Quebec H4J 1C5, Canada
J Clin Endocrinol Metab 87:2694-700. 2002..These results provide evidence that the Q57P and G100V mutations in congenital nephrogenic diabetes insipidus are attributable to the misrouting of AQP2...
- Molecular biology of hereditary diabetes insipidusT Mary Fujiwara
Research Center, Hopital du Sacre Coeur de Montreal, 5400 Boulevard Gouin Ouest, Montreal, Quebec, H4J 1C5 Canada
J Am Soc Nephrol 16:2836-46. 2005..These advances provide diagnostic and clinical tools for physicians who care for these patients...
- Functional rescue of the constitutively internalized V2 vasopressin receptor mutant R137H by the pharmacological chaperone action of SR49059Virginie Bernier
Department of Biochemistry, Universite de Montreal, C P 6128 Succursale Centre Ville, Montreal, Quebec, Canada H3C 3J7
Mol Endocrinol 18:2074-84. 2004..SR49059 treatment significantly improved its maturation and cell surface targeting, indicating that the functional rescue of R137H V2Rs results from the pharmacological chaperone action of the antagonist...
- Vasopressin increases urinary albumin excretion in rats and humans: involvement of V2 receptors and the renin-angiotensin systemPascale Bardoux
INSERM Unité 367, Institut du Fer a Moulin, Paris, France
Nephrol Dial Transplant 18:497-506. 2003..The present study was thus designed to evaluate whether vasopressin influences UAE in normal rats and humans, whether this effect is V(2)-receptor-dependent, and whether it is mediated by the renin-angiotensin system...