M. Arthus

发表

Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus.

D. Bichet, P. Deen, D. Landau, 2002, Journal of the American Society of Nephrology : JASN.

Two novel aquaporin-2 mutations responsible for congenital nephrogenic diabetes insipidus in Chinese families.

D. Bichet, S. Sasaki, M. Kuwahara, 2000, The Journal of clinical endocrinology and metabolism.

Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus

D. Bichet, P. Deen, C. van Os, 2003, The Journal of cell biology.

Independent Registries Are Cost-Effective Tools to Provide Mandatory Postauthorization Surveillance for Orphan Medicinal Products.

L. Lynd, C. Morel, C. Hollak, 2020, Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research.

Pharmacologic chaperones as a potential treatment for X-linked nephrogenic diabetes insipidus.

Michel Bouvier, D. Bichet, M. Bouvier, 2005, Journal of the American Society of Nephrology : JASN.

ONTOGENY OF AMINO ACID REABSORPTION IN MAMMALIAN KIDNEY, THE PROLINE MODEL

C. Scriver, M. Arthus, C. Schwab, 1981 .

Topology of membrane exposure in the renal cortex slice. Studies of glutathione and maltose cleavage.

C. Scriver, M. Arthus, M. Bergeron, 1982, Biochimica et biophysica acta.

Vasopressin and hydration play a major role in the development of glucose intolerance and hepatic steatosis in obese rats

O. Melander, V. Paradis, R. Roussel, 2015, Diabetologia.

Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus

D. Bichet, G. Hendy, M. Birnbaumer, 1992, Nature.

Vasopressin increases urinary albumin excretion in rats and humans: involvement of V2 receptors and the renin-angiotensin system.

M. Marre, L. Bankir, D. Bichet, 2003, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Analysis of globotriaosylceramide (Gb3) isoforms/analogs in unfractionated leukocytes, B lymphocytes and monocytes from Fabry patients using ultra-high performance liquid chromatography/tandem mass spectrometry.

D. Bichet, C. Auray-Blais, M. Arthus, 2018, Analytica chimica acta.

The Hemodynamic and Coagulant Effects of DDAVP Are Specific Extrarenal V2- Receptor Responses

D. Bichet, M. Arthus, M. Lonergan, 1993 .

NEONATAL IMINOGLYCINURIA: EVIDENCE THAT THE PROLINURIA ORIGINATES IN SELECTIVE DEFICIENCY OF TRANSPORT ACTIVITY IN THE PROXIMAL NEPHRON

C. Scriver, M. Arthus, M. Bergeron, 1982, Pediatric Research.

New autosomal recessive mutations in aquaporin‐2 causing nephrogenic diabetes insipidus through deficient targeting display normal expression in Xenopus oocytes

O. Devuyst, D. Bichet, Eva Riveira-Muñoz, 2010, The Journal of physiology.

A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L.

D. Bichet, P. Deen, P. van der Sluijs, 2004, Human molecular genetics.

Diurnal Variation of Urinary Fabry Disease Biomarkers during Enzyme Replacement Therapy Cycles

B. Maranda, D. Bichet, C. Auray-Blais, 2020, International journal of molecular sciences.

Characterization of D150E and G196D aquaporin-2 mutations responsible for nephrogenic diabetes insipidus: importance of a mild phenotype.

D. Bichet, M. Arthus, M. Lonergan, 2009, American journal of physiology. Renal physiology.

Severe combined immunodeficiency associated with nephrogenic diabetes insipidus and a deletion in the Xq28 region.

D. Bichet, M. Conley, M. Arthus, 2006, Clinical immunology.

Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus—update and epidemiology

D. Bichet, D. Bockenhauer, M. Arthus, 2012, Clinical kidney journal.

Heteroligomerization of an Aquaporin-2 mutant with wild-type Aquaporin-2 and their misrouting to late endosomes/lysosomes explains dominant nephrogenic diabetes insipidus.

D. Bichet, P. Deen, C. van Os, 2002, Human molecular genetics.

Functional rescue of the constitutively internalized V2 vasopressin receptor mutant R137H by the pharmacological chaperone action of SR49059.

Michel Bouvier, D. Bichet, M. Bouvier, 2004, Molecular endocrinology.

The Vasopressin Antagonist Sk&F 105494 Inhibits Desmopressin-Stimulated Clotting Factor Release in Vivo

D. Bichet, L. Kinter, M. Arthus, 1993 .

Long-term outcome in inherited nephrogenic diabetes insipidus

D. Bichet, R. Kleta, D. Bockenhauer, 2018, Clinical kidney journal.

Vasopressin antagonist inhibition of clotting factor release in the rhesus monkey (Macaca mulatta).

D. Bichet, L. Kinter, M. Arthus, 1992, The Journal of pharmacology and experimental therapeutics.

Pharmacological chaperones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants.

S. Angers, D. Bichet, M. Bouvier, 2000, The Journal of clinical investigation.

An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex.

P. Sluijs, D. Bichet, P. Deen, 1998, The Journal of clinical investigation.

Three families with autosomal dominant nephrogenic diabetes insipidus caused by aquaporin-2 mutations in the C-terminus.

F. Marumo, D. Bichet, Y. Terada, 2001, American journal of human genetics.

Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus.

P. Giampietro, D. Bichet, S. Simonetti, 1994, American journal of human genetics.

Hemodynamic and coagulation responses to 1-desamino[8-D-arginine] vasopressin in patients with congenital nephrogenic diabetes insipidus.

D. Bichet, M. Arthus, M. Lonergan, 1988, The New England journal of medicine.

Epinephrine and dDAVP administration in patients with congenital nephrogenic diabetes insipidus. Evidence for a pre-cyclic AMP V2 receptor defective mechanism.

D. Hirsch, D. Bichet, M. Arthus, 1989, Kidney international.

Functional studies of twelve mutant V2 vasopressin receptors related to nephrogenic diabetes insipidus: molecular basis of a mild clinical phenotype.

N. Cotte, C. Antignac, G. Alonso, 1998, Journal of the American Society of Nephrology : JASN.

Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus

D. Bichet, P. Deen, C. van Os, 2003, The Journal of cell biology.

Further evidence for functional recovery of AQP2 mutations associated with nephrogenic diabetes insipidus

D. Bichet, R. Unwin, M. Arthus, 2021, Physiological reports.

Report of 33 novel AVPR2 mutations and analysis of 117 families with X-linked nephrogenic diabetes insipidus.

D. Bichet, S. Sasaki, S. Sasaki, 2000, Journal of the American Society of Nephrology : JASN.