Search Results - "Arthus, M F"
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An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex
Published in The Journal of clinical investigation (01-07-1998)“…Mutations in the aquaporin-2 (AQP2) water channel gene cause autosomal recessive nephrogenic diabetes insipidus (NDI). Here we report the first patient with an…”
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Association of Calnexin with Wild Type and Mutant AVPR2 that Cause Nephrogenic Diabetes Insipidus
Published in Biochemistry (Easton) (12-06-2001)“…Over 155 mutations within the V2 vasopressin receptor (AVPR2) gene are responsible for nephrogenic diabetes insipidus (NDI). The expression and subcellular…”
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Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus
Published in American journal of human genetics (01-08-1994)“…X-linked nephrogenic diabetes insipidus (NDI) is a rare disease with defective renal and extrarenal arginine-vaso-pressin V2 receptor responses due to…”
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Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus
Published in Nature (London) (17-09-1992)“…Antidiuretic hormone (arginine vasopressin) binds to and activates V2 receptors in renal collecting tubule cells. Subsequent stimulation of the Gs/adenylyl…”
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X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis
Published in The Journal of clinical investigation (01-09-1993)“…In X-linked nephrogenic diabetes insipidus (NDI) the urine of male patients is not concentrated after the administration of the antidiuretic hormone…”
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Pharmacological chaperones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants
Published in The Journal of clinical investigation (01-04-2000)“…Over 150 mutations within the coding sequence of the V2 vasopressin receptor (V2R) gene are known to cause nephrogenic diabetes insipidus (NDI). A large number…”
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Hemodynamic and coagulation responses to 1-desamino[8-D-arginine] vasopressin in patients with congenital nephrogenic diabetes insipidus
Published in The New England journal of medicine (07-04-1988)“…The antidiuretic hormone arginine vasopressin interacts with two types of receptors: V1, which mediates the effects of vasopressin on vascular smooth muscle,…”
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Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus—update and epidemiology
Published in Clinical kidney journal (01-06-2012)“…It is clinically useful to distinguish between two types of hereditary nephrogenic diabetes insipidus (NDI): a ‘pure’ type characterized by loss of water only…”
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Reversed Polarized Delivery of an Aquaporin-2 Mutant Causes Dominant Nephrogenic Diabetes Insipidus
Published in The Journal of cell biology (08-12-2003)“…Vasopressin regulates body water conservation by redistributing aquaporin-2 (AQP2) water channels from intracellular vesicles to the apical surface of renal…”
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Epinephrine and dDAVP administration in patients with congenital nephrogenic diabetes insipidus: Evidence for a pre-cyclic AMP V2 receptor defective mechanism
Published in Kidney international (01-11-1989)“…Epinephrine and dDAVP administration in patients with congenital nephrogenic diabetes insipidus. Evidence for a pre-cyclic AMP V2 receptor defective mechanism…”
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Mutations in the vasopressin V2 receptor gene in families with nephrogenic diabetes insipidus and functional expression of the Q-2 mutant
Published in Cellular and molecular biology (Noisy-le-Grand, France) (01-05-1994)“…Nephrogenic diabetes insipidus (NDI) is characterized by a resistance of the kidney towards arginine vasopressin (AVP). Following molecular cloning of the…”
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Human platelet fraction arginine-vasopressin: potential physiological role
Published in The Journal of clinical investigation (01-03-1987)“…Arginine-vasopressin (AVP) immunoreactivity (Ir) has been found to be elevated in platelet-rich plasma. PlatAVP was defined as platelet-rich plasma Ir minus…”
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Heteroligomerization of an Aquaporin-2 mutant with wild-type Aquaporin-2 and their misrouting to late endosomes/lysosomes explains dominant nephrogenic diabetes insipidus
Published in Human molecular genetics (01-04-2002)“…Autosomal nephrogenic diabetes insipidus (NDI), a disease in which the kidney is unable to concentrate urine in response to vasopressin, is caused by mutations…”
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Three Families with Autosomal Dominant Nephrogenic Diabetes Insipidus Caused by Aquaporin-2 Mutations in the C-Terminus
Published in American journal of human genetics (01-10-2001)“…The vasopressin-regulated water channel aquaporin-2 (AQP2) is known to tetramerize in the apical membrane of the renal tubular cells and contributes to urine…”
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Platelet vasopressin receptors in patients with congenital nephrogenic diabetes insipidus
Published in Kidney international (01-04-1991)“…Platelet vasopressin receptors in patients with congenital nephrogenic diabetes insipidus. Arginine-vasopressin(AVP), interacts with at least two types of…”
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Functional studies of twelve mutant V2 vasopressin receptors related to nephrogenic diabetes insipidus : Molecular basis of a mild clinical phenotype
Published in Journal of the American Society of Nephrology (01-10-1998)“…X-linked nephrogenic diabetes insipidus (NDI) is a rare disease with defective renal and extrarenal arginine vasopressin V2 receptor responses due to mutations…”
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Report of 33 novel AVPR2 mutations and analysis of 117 families with X-linked nephrogenic diabetes insipidus
Published in Journal of the American Society of Nephrology (01-06-2000)“…X-linked nephrogenic diabetes insipidus (NDI) is a rare disease caused by mutations in the arginine vasopressin receptor 2 gene (AVPR2). Thirty-three novel…”
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Vasopressin antagonist inhibition of clotting factor release in the rhesus monkey (Macaca mulatta)
Published in The Journal of pharmacology and experimental therapeutics (01-05-1992)“…The antidiuretic (V2) agonist, dDAVP, stimulates release of the clotting factors von Willebrand factor (vWF) and factor VIIIc (FVIIIc) in humans. The objective…”
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X-linked nephrogenic diabetes insipidus: from the ship Hopewell to RFLP studies
Published in American journal of human genetics (01-11-1992)“…Nephrogenic diabetes insipidus (NDI; designated 304800 in Mendelian Inheritance in Man) is an X-linked disorder with abnormal renal and extrarenal V2…”
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1-Desamino[8-D-arginine]vasopressin (dDAVP) decreases blood pressure and increases pulse rate in normal individuals
Published in Thrombosis and haemostasis (31-10-1988)Get more information
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