V2R gene
The definitions used in this glossary of terminology either have been
provided by the authors of the articles, or have been extracted wholly or in
part, or paraphrased from the following sources: The American Medical
Association Encyclopedia of Medicine, Charles B. Clayman, MD, Medical
Editor, Random House, New York, 1989; Biotechnology from A to Z, 2d
Edition, William Bains, Oxford University Press, New York, New York, 2002;
A Dictionary of Genetics, 6th Edition, Robert C. King and William D.
Stansfield, Oxford University Press, New York, New York, 2002; Dorland's
Illustrated Medical Dictionary, 29th and 30th Editions, W. B. Saunders
Company, Philadelphia, 2000, 2003; Genes VII, Benjamin Lewin, Oxford
University Press, New York, New York, 2000; The Gale Encyclopedia of
Genetic Disorders, Volumes I and II, Stacey L. Blachford, Ed., Thomson
Learning, New York, New York, 2002; The Merriam-Webster Dictionary,
Merriam-Webster, Inc., Springfield, Massachusetts, 1997; Molecular
Biology of the Cell, 3rd Edition, Bruce Alberts, et al., Garland
Publishing, 1994; The Random House Dictionary of the English
Language, Unabridged Edition, 1966; Webster's Ninth New Collegiate
Dictionary, 1991.
DEFINITION:
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V2R gene
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Vasopressin-2 receptor gene.
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A Case of a Novel Mutant Vasopressin Receptor-Dependent Nephrogenic Diabetes Insipidus With Bilateral Non-Obstructive Hydronephrosis in a Middle Aged Man
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A Low-Affinity Vasopressin V2-Receptor Gene in a Kindred with X-Linked Nephrogenic Diabetes Insipidus
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A Novel Deletion Mutation in the Arginine Vasopressin Receptor 2 Gene and Skewed X Chromosome Inactivation in a Female Patient with Congenital Nephrogenic Diabetes Insipidus
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A Novel Polymorphism in the Coding Region of the Vasopressin Type 2 Receptor Gene
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A Null Mutation in the Vasopressin V2 Receptor Gene (AVPR2) Associated with Nephrogenic Diabetes Insipidus in the Hopewell Kindred
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An Extracellular Congenital Nephrogenic Diabetes Insipidus Mutation of the Vasopressin Receptor Reduces Cell Surface Expression, Affinity for Ligand, and Coupling to the Gs/adenylyl Cyclase System
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Analysis of Vasopressin Receptor Type II (V2R) Gene in Three Japanese Pedigrees with Congenital Nephrogenic Diabetes Insipidus: Identification of a Family with Complete Deletion of the V2R Gene
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Appropriate Polarization Following Pharmacological Rescue of V2 Vasopressin Receptors Encoded by X-Linked Nephrogenic Diabetes Insipidus Alleles Involves a Conformation of the Receptor That Also Attains Mature Glycosylation
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Autosomal Recessive Nephrogenic Diabetes Insipidus Caused by an Aquaporin-2 Mutation
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Brief Report: A Molecular Defect in the Vasopressin V2-Receptor Gene Causing Nephrogenic Diabetes Insipidus
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Characterization of Vasopressin V2 Receptor Mutants in Nephrogenic Diabetes Insipidus in a Polarized Cell Model
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Clinical Phenotype of Nephrogenic Diabetes Insipidus in Females Heterozygous for a Vasopressin Type 2 Receptor Mutation
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Cloning of the Human Type-2 Vasopressin Receptor Gene
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Cloning, Characterization, and Chromosomal Mapping of Human Aquaporin of Collecting Duct
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Cognitive and Psychosocial Functioning of Patients with Congenital Nephrogenic Diabetes Insipidus
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Comparative Mapping on the Mouse and Human X Chromosomes of a Human cDNA Clone Encoding the Vasopressin Renal-Type Receptor (AVP2R)
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Defects of G Protein-Coupled Signal Transduction in Human Disease
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Derivatives of Somatic Cell Hybrids Which Carry the Human Gene Locus for Nephrogenic Diabetes Insipidus (NDI) Express Functional Vasopressin Renal V2-type Receptors
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Detection of Skewed X-Inactivation in Two Female Carriers of Vasopressin Type 2 Receptor Gene Mutation
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Diabetes Insipidus (Hendy, Bichet)
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Evidence for Intact V1-vasopressin Receptors in Congenital Nephrogenic Diabetes Insipidus
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Expression Cloning of the Human V2 Vasopressin Receptor
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Expression Studies of Two Vasopressin V2 Receptor Gene Mutations, R202C and 804insG, in Nephrogenic Diabetes Insipidus
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Functional Rescue of Vasopressin V2 Receptor Mutants in MDCK Cells by Pharmacochaperones: Relevance to Therapy of Nephrogenic Diabetes Insipidus
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Functional Rescue of the Constitutively Internalized V2 Vasopressin Receptor Mutant R137H by the Pharmacological Chaperone Action of SR49059
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G-Protein-Coupled Receptors: Molecular Mechanisms Involved in Receptor Activation and Selectivity of G-Protein Recognition
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GS-Activating Receptors: Modes of Transmembrane Signalling and Genetic Defects
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Genetic Renal Diseases in Children
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Inherited Diseases of the Kidney
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Intrafamilial Phenotype Variability in Nephrogenic Diabetes Insipidus
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Maturation of Receptor Proteins in Eukaryotic Expression Systems
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Methyl-β-Cyclodextrin Induces Vasopressin-Independent Apical Accumulation of Aquaporin-2 in the Isolated, Perfused Rat Kidney
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Molecular Biology of Diabetes Insipidus
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Molecular Identification of the Gene Responsible for Congenital Nephrogenic Diabetes Insipidus
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Molecular Insights into the Pathogenesis of Inherited Renal Tubular Disorders
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Molecular and Cellular Biology of Vasopressin and Oxytocin Receptors and Action in the Kidney
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Molecular and Cellular Defects in Nephrogenic Diabetes Insipidus
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Mutational Analyses of AVPR2 Gene in Three Japanese Families with X-Linked Nephrogenic Diabetes Insipidus: Two Recurrent Mutations, R137H and V278, Caused by the Hypermutability at CpG D
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Mutations and Diseases of G Protein Coupled Receptors
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Mutations in the V2 Vasopressin Receptor Gene are Associated with X-linked Nephrogenic Diabetes Insipidus
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Mutations in the Vasopressin Type 2 Receptor Gene (AVPR2) Associated with Nephrogenic Diabetes Insipidus
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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
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Mutations in the Vasopressin V2 Receptor Gene in Two Families with Nephrogenic Diabetes Insipidus
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Mutations in the Vasopressin V2-Receptor Gene in Three Families of Italian Descent with Nephrogenic Diabetes Insipidus
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Nature and Recurrence of AVPR2 Mutations in X-Linked Nephrogenic Diabetes Insipidus
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Nephrogenic Diabetes Insipidus (Bichet - November 1998)
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Nephrogenic Diabetes Insipidus (Bichet)
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Nephrogenic Diabetes Insipidus Caused By Mutation of Tyr205: A Key Residue of V2 Vasopressin Receptor Function
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Nephrogenic Diabetes Insipidus in Sibling Colts
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Nephrogenic Diabetes Insipidus: An X Chromosome-Linked Dominant Inheritance Pattern with a Vasopressin Type 2 Receptor Gene that is Structurally Normal
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Nephrogenic Diabetes Insipidus: Causes Revealed
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Nephrogenic Diabetes Insipidus: Clinical Symptoms, Pathogenesis, Genetics and Treatment
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Nephrogenic Diabetes Insipidus: Identification of the Genetic Defect
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Normal Fibrinolytic Responses to 1-Desamino-8-D-Arginine Vasopressin in Patients with Nephrogenic Diabetes Insipidus Caused by Mutations in the Aquaporin 2 Gene
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Novel Mutations in the V2 Vasopressin Receptor Gene in Two Pedigrees with Congenital Nephrogenic Diabetes Insipidus
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Novel Mutations in the V2 Vasopressin Receptor Gene of Patients with X-Linked Nephrogenic Diabetes Insipidus
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Novel Vasopressin Type 2 (AVPR2) Gene Mutations in Brazilian Nephrogenic Diabetes Insipidus Patients
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Pathophysiology of Aquaporin-2 in Water Balance Disorders
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Pharmacochaperones Post-Translationally Enhance Cell Surface Expression by Increasing Conformational Stability of Wild-Type and Mutant Vasopressin V2 Receptors
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Pharmacological Chaperones Rescue Cell-Surface Expression and Function of Misfolded V2 Vasopressin Receptor Mutants
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Pharmacological Chaperones in Nephrogenic Diabetes Insipidus: Possibilities for Clinical Application
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Phenotypes Developed in Secretin Receptor-Null Mice Indicated a Role for Secretin in Regulating Renal Water Reabsorption
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Polarized Expression of the Vasopressin V2 Receptor in Madin-Darby Canine Kidney Cells
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Relief of Nocturnal Enuresis by Desmopressin is Kidney and Vasopressin Type 2 Receptor Independent
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Requirement of Human Renal Water Channel Aquaporin-2 for Vasopressin-Dependent Concentration of Urine
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Structure and Chromosomal Localization of the Human Antidiuretic Hormone Receptor Gene
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The Effect of Eight V2 Vasopressin Receptor Mutations on Stimulation of Adenylyl Cyclase and Binding to Vasopressin
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The Molecular Basis of Nephrogenic Diabetes Insipidus
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The Vasopressin Type 2 Receptor Gene. Chromosomal Localization and Its Role in Nephrogenic Diabetes Insipidus
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Two Novel Mutations in the Aquaporin-2 and the Vasopressin V2 Receptor Genes in Patients with Congenital Nephrogenic Diabetes Insipidus
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Two Novel Mutations in the Vasopressin V2 Receptor Gene in Patients with Congenital Nephrogenic Diabetes Insipidus
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Two Novel Mutations in the Vasopressin V2 Receptor Gene in Unrelated Japanese Kindreds with Nephrogenic Diabetes Insipidus
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Two Vasopressin Type 2 Receptor Gene Mutations R143P and Delta V278 in Patients with Nephrogenic Diabetes Insipidus Impair Ligand Binding of the Receptor
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Type 2 Vasopressin Receptor Gene, the Gene Responsible for Nephrogenic Diabetes Insipidus, Maps to Xq28 Close to the LICAM Gene
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Urinary Content of Aquaporin 1 and 2 in Nephrogenic Diabetes Insipidus
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Vasopressin Type-2 Receptor and Aquaporin-2 Water Channel Mutants in Nephrogenic Diabetes Insipidus
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Vasopressin and Oxytocin Receptors
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X-Linked Nephrogenic Diabetes Insipidus Mutations in North America and the Hopewell Hypothesis