AQP2 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:
- AQP2 gene
Used in 18 Article abstracts
Used in 18 Article abstracts
- An Aquaporin-2 Water Channel Mutant Which Causes Autosomal Dominant Nephrogenic Diabetes Insipidus is Retained in the Golgi Complex
- Bladder Function Impairment in Aquaporin-2 Defective Nephrogenic Diabetes Insipidus
- Cell-Biologic and Functional Analyses of Five New Aquaporin-2 Missense Mutations that Cause Recessive Nephrogenic Diabetes Insipidus
- Characterization of an Aquaporin-2 Water Channel Gene Mutation Causing Partial Nephrogenic Diabetes Insipidus in a Mexican Family: Evidence of Increased Frequency of the Mutation in the Town of Origin
- Discovery of Aquaporins: a Breakthrough in Research on Renal Water Transport
- Mutations in the Vasopressin V2 Receptor and Aquaporin-2 Genes in 12 Families with Congenital Nephrogenic Diabetes Insipidus
- New Mutations in the AQP2 Gene in Nephrogenic Diabetes Insipidus Resulting in Functional but Misrouted Water Channels
- Novel Mutations in Aquaporin-2 Gene in Female Siblings with Nephrogenic Diabetes Insipidus: Evidence of Disrupted Water Channel Function
- Patients with Autosomal Nephrogenic Diabetes Insipidus Homozygous for Mutations in the Aquaporin 2 Water-Channel Gene
- Three Families with Autosomal Dominant Nephrogenic Diabetes Insipidus Caused by Aquaporin-2 Mutations in the C-terminus
- Two Novel Aquaporin-2 Mutations Responsible for Congenital Nephrogenic Diabetes Insipidus in Chinese Families
- Two Novel Aquaporin-2 Mutations in a Sporadic Japanese Patient with Autosomal Recessive Nephrogenic Diabetes Insipidus
- Urinary Content of Aquaporin 1 and 2 in Nephrogenic Diabetes Insipidus
- Vasopressin Receptor Mutations Causing Nephrogenic Diabetes Insipidus
- Vasopressin Receptors in Health and Disease
- Water Channels and Urea Transporters
- [Pathological Aspects of Water Transport in the Collecting Ducts] (French)
- cDNA and Genomic Cloning of Mouse Aquaporin-2: Functional Analysis of an Orthologous Mutant Causing Nephrogenic Diabetes Insipidus
Used in 60 Article translations
Used in 60 Article translations
- A Case of a Novel Mutant Vasopressin Receptor-Dependent Nephrogenic Diabetes Insipidus With Bilateral Non-Obstructive Hydronephrosis in a Middle Aged Man
- A Novel Mechanism in Recessive Nephrogenic Diabetes Insipidus: Wild-Type Aquaporin-2 Rescues the Apical Membrane Expression of Intracellularly Retained AQP2-P262L
- Amelioration of Polyuria in Nephrogenic Diabetes Insipidus Due to Aquaporin-2 Deficiency
- An Aquaporin-2 Water Channel Mutant Which Causes Autosomal Dominant Nephrogenic Diabetes Insipidus is Retained in the Golgi Complex
- An Impaired Routing of Wild-type Aquaporin-2 after Tetramerization with an Aquaporin-2 Mutant Explains Dominant Nephrogenic Diabetes Insipidus
- Aquaporin-2 Water Channel Mutations and Nephrogenic Diabetes Insipidus: New Variations on a Theme
- Aquaporin-2, a Vasopressin-sensitive Water Channel, and Nephrogenic Diabetes Insipidus
- Aquaporins: From Physiology to Nephrogenic Diabetes Insipidus
- Assignment of the Human Gene for the Water Channel of Renal Collecting Duct Aquaporin 2 (AQP2) to Chromosome 12 Region q12-->q13
- Autosomal Recessive Nephrogenic Diabetes Insipidus Caused by an Aquaporin-2 Mutation
- Bladder Function Impairment in Aquaporin-2 Defective Nephrogenic Diabetes Insipidus
- Clinical Phenotype of Nephrogenic Diabetes Insipidus in Females Heterozygous for a Vasopressin Type 2 Receptor Mutation
- Clinical Utility of Direct Mutation Testing for Congenital Nephrogenic Diabetes Insipidus in Families
- Congenital Nephrogenic Diabetes Insipidus
- Diabetes Insipidus (Hendy, Bichet)
- Diabetes Insipidus (Robertson)
- Evidence for Stabilization of Aquaporin-2 Folding Mutants by N-linked Glycosylation in the Endoplasmic Reticulum
- From Vasopressin Receptor to Water Channel: Intracellular Traffic, Constraint and By-pass
- Genetic Renal Diseases in Children
- Heteroligomerization of an Aquaporin-2 Mutant with Wild-Type Aquaporin-2 and Their Misrouting to Late Endosomes/Lysosomes Explains Dominant Nephrogenic Diabetes Insipidus
- Hypertonicity Regulates the Aquaporin-2 Promoter Independently of Arginine Vasopressin
- Identification and Characterization of Aquaporin-2 Water Channel Mutations Causing Nephrogenic Diabetes Insipidus with Partial Vasopressin Response
- Importance of the Mercury-Sensitive Cysteine on Function and Routing of AQP1 and AQP2 in Oocytes
- Insulin Potentiates AVP-induced AQP2 Expression in Cultured Renal Collecting Duct Principal Cells
- Methyl-β-Cyclodextrin Induces Vasopressin-Independent Apical Accumulation of Aquaporin-2 in the Isolated, Perfused Rat Kidney
- Misfolding of Mutant Aquaporin-2 Water Channels in Nephrogenic Diabetes Insipidus
- Molecular Analyses of the Vasopressin Type 2 Receptor and Aquaporin-2 Genes in Brazilian Kindreds with Nephrogenic Diabetes Insipidus
- Molecular Analysis of X-Linked Nephrogenic Diabetes Insipidus
- Molecular Biology of Diabetes Insipidus
- Molecular and Cellular Defects in Nephrogenic Diabetes Insipidus
- Mutations in the Vasopressin V2 Receptor and Aquaporin-2 Genes in 12 Families with Congenital Nephrogenic Diabetes Insipidus
- Nephrogenic Diabetes Insipidus (Bichet - November 1998)
- Nephrogenic Diabetes Insipidus (Bichet)
- Nephrogenic Diabetes Insipidus in Sibling Colts
- New Mutations in the AQP2 Gene in Nephrogenic Diabetes Insipidus Resulting in Functional but Misrouted Water Channels
- Normal Fibrinolytic Responses to 1-Desamino-8-D-Arginine Vasopressin in Patients with Nephrogenic Diabetes Insipidus Caused by Mutations in the Aquaporin 2 Gene
- Osmolality and Solute Composition are Strong Regulators of AQP2 Expression in Renal Principal Cells
- Pathogenesis and Treatment of Autosomal-Dominant Nephrogenic Diabetes Insipidus Caused by an Aquaporin 2 Mutation
- Pathophysiology of Aquaporin-2 in Water Balance Disorders
- Patients with Autosomal Nephrogenic Diabetes Insipidus Homozygous for Mutations in the Aquaporin 2 Water-Channel Gene
- Phenotypes Developed in Secretin Receptor-Null Mice Indicated a Role for Secretin in Regulating Renal Water Reabsorption
- Physiology and Pathophysiology of Aquaporins
- Physiology and Pathophysiology of the Aquaporin-2 Water Channel
- Requirement of Human Renal Water Channel Aquaporin-2 for Vasopressin-Dependent Concentration of Urine
- Reversed Polarized Delivery of an Aquaporin-2 Mutant Causes Dominant Nephrogenic Diabetes Insipidus
- Role of Aquaporin Water Channels in Kidney and Lung
- Role of Aquaporin-2 Water Channels in Urinary Concentration and Dilution Defects
- Role of Aquaporins in Water Balance Disorders
- The Aquaporin Family of Molecular Water Channels
- The Aquaporin Family of Water Channels in Kidney: an Update on Physiology and Pathophysiology of Aquaporin-2
- The Molecular Basis of Nephrogenic Diabetes Insipidus
- Tonicity-Responsive Enhancer Binding Protein is an Essential Regulator of Aquaporin-2 Expression in Renal Collecting Duct Principal Cells
- Two Novel Aquaporin-2 Mutations Responsible for Congenital Nephrogenic Diabetes Insipidus in Chinese Families
- Two Novel Aquaporin-2 Mutations in a Sporadic Japanese Patient with Autosomal Recessive Nephrogenic Diabetes Insipidus
- Two Novel Mutations in the Aquaporin-2 and the Vasopressin V2 Receptor Genes in Patients with Congenital Nephrogenic Diabetes Insipidus
- Urinary Content of Aquaporin 1 and 2 in Nephrogenic Diabetes Insipidus
- Vasopressin Receptors in Health and Disease
- Vasopressin Type-2 Receptor and Aquaporin-2 Water Channel Mutants in Nephrogenic Diabetes Insipidus
- Water Channels Encoded by Mutant Aquaporin-2 Genes in Nephrogenic Diabetes Insipidus are Impaired in Their Cellular Routing
- cDNA and Genomic Cloning of Mouse Aquaporin-2: Functional Analysis of an Orthologous Mutant Causing Nephrogenic Diabetes Insipidus
Used in 2 Faq answers
Used in 2 Faq answers
- Could you explain, in layman's terms, what happens genetically when a father, daughter, and male child of the daughter all have DI?
- What is the nature of the defect in Aquaporin 2, and how can the symptoms of both autosomal recessive NDI and autosomal dominant NDI be explained by the defect in Aquaporin 2?
Used in 14 Proceeding abstracts
Used in 14 Proceeding abstracts
- A Novel dominant mutation of the aquaporin-2 gene resulting in partial nephrogenic diabetes insipidus
- Cell biological and functional analysis of five new Aquaporin-2 gene missense mutations in recessive Nephrogenic Diabetes Insipidus
- Clinical Data and Cell Biological Aspects of Mutations in Nephrogenic Diabetes Insipidus
- Gene Mutation Analysis of NDI patients in Japan
- Generation of Germ Line Heterozygous Mice for Aquaporin-2 Conditional Knock-Out and Knock-In Models of NDI
- Impaired routing of AQP2 to late endosomes/lysosomes following heterotetramerization with AQP2-E258K is likely to explain dominant nephrogenic diabetes insipidus
- Lack of AVP-induced phosphorylation of the Aquaporin-2 mutants AQP2-R254L and AQP2-R254Q explains dominant Nephrogenic Diabetes Insipidus
- Molecular mechanisms underlying dominant Nephrogenic Diabetes Insipidus caused by mutations in the AQP2 gene
- Mutations in the vasopressin V2 receptor and aquaporin-2 genes in twelve families with congenital nephrogenic diabetes insipidus
- Nephrogenic Diabetes Insipidus Patients in Japan
- Novel Roles of Aquaporin Water Channels Revealed by Phenotype Analysis of Knockout Mice
- The Ontogeny and Regulation of AQP2 Gene Expression in the Ovine Fetal Kidney
- Toward a mouse model of human non-X-linked NDI
- Wild-type aquaporin-2 rescues a novel aquaporin-2 mutant in recessive Nephrogenic Diabetes Insipidus to the apical plasma membrane
Used in 11 Proceeding translations
Used in 11 Proceeding translations
- A Novel dominant mutation of the aquaporin-2 gene resulting in partial nephrogenic diabetes insipidus
- An impaired routing of wild type aquaporin-2 after tetramerization with an aquaporin-2 mutant explains dominant nephrogenic diabetes insipidus
- Consequences of tetramerization and expression levels of Aquaporin-2 in phenotype-genotype correlation studies in autosomal NDI
- Determination of the functionality of AQP2 missense mutants in recessive NDI
- Diversity of Nephrogenic Diabetes Insipidus Mutations and Importance of Early Recognition and Treatment
- Gene Mutation Analysis of NDI patients in Japan
- Generation of Germ Line Heterozygous Mice for Aquaporin-2 Conditional Knock-Out and Knock-In Models of NDI
- Nephrogenic Diabetes Insipidus Patients in Japan
- Prostaglandins as Stimulants of AQP2 Expression: a Possible Future Treatment for NDI?
- Routing and function of mutant AQP2 water channels in nephrogenic diabetes insipidus
- Wild-type aquaporin-2 rescues a novel aquaporin-2 mutant in recessive Nephrogenic Diabetes Insipidus to the apical plasma membrane
