mutants
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:
- mutants
Used in 36 Article abstracts
Used in 36 Article abstracts
- A Novel Mechanism in Recessive Nephrogenic Diabetes Insipidus: Wild-Type Aquaporin-2 Rescues the Apical Membrane Expression of Intracellularly Retained AQP2-P262L
- 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
- Binding-, Intracellular Transport-, and Biosynthesis-Defective Mutants of Vasopressin Type 2 Receptor in Patients with X-Linked Nephrogenic Diabetes Insipidus
- Cell-Biologic and Functional Analyses of Five New Aquaporin-2 Missense Mutations that Cause Recessive Nephrogenic Diabetes Insipidus
- Characterization of Vasopressin V2 Receptor Mutants in Nephrogenic Diabetes Insipidus in a Polarized Cell Model
- Defective Aquaporin-2 Trafficking in Nephrogenic Diabetes Insipidus and Correction by Chemical Chaperones
- Defective processing and trafficking of water channels in nephrogenic diabetes insipidus.
- Disease-Causing V2 Vasopressin Receptors are Retained in Different Compartments of the Early Secretory Pathway
- Evidence for Stabilization of Aquaporin-2 Folding Mutants by N-linked Glycosylation in the Endoplasmic Reticulum
- Expression Studies of Two Vasopressin V2 Receptor Gene Mutations, R202C and 804insG, in Nephrogenic Diabetes Insipidus
- First Intracellular Loop of the Human Cholecystokinin-A Receptor is Essential for Cyclic AMP Signaling in Transfected HEK-293 Cells
- Functional Analysis of Aquaporin-2 Mutants Associated with Nephrogenic Diabetes Insipidus by Yeast Expression
- Functional Rescue of Vasopressin V2 Receptor Mutants in MDCK Cells by Pharmacochaperones: Relevance to Therapy of Nephrogenic Diabetes Insipidus
- Functional Rescue of the Constitutively Internalized V2 Vasopressin Receptor Mutant R137H by the Pharmacological Chaperone Action of SR49059
- Functional Studies of Twelve Mutant V2 Vasopressin Receptors Related to Nephrogenic Diabetes Insipidus: Molecular Basis of a Mild Clinical Phenotype
- Heteroligomerization of an Aquaporin-2 Mutant with Wild-Type Aquaporin-2 and Their Misrouting to Late Endosomes/Lysosomes Explains Dominant Nephrogenic Diabetes Insipidus
- Identification of Mutations in the Arginine Vasopressin Receptor 2 Gene Causing Nephrogenic Diabetes Insipidus in Chinese Patients
- Importance of Aquaporin-2 Expression Levels in Genotype -Phenotype Studies in Nephrogenic Diabetes Insipidus
- Importance of the Mercury-Sensitive Cysteine on Function and Routing of AQP1 and AQP2 in Oocytes
- Misfolded Vasopressin V2 Receptors Caused by Extracellular Point Mutations Entail Congenital Nephrogenic Diabetes Insipidus.
- Misfolding of Mutant Aquaporin-2 Water Channels in Nephrogenic Diabetes Insipidus
- Molecular and Cellular Defects in Nephrogenic Diabetes Insipidus (Knoers, Deen)
- Pharmacochaperones Post-Translationally Enhance Cell Surface Expression by Increasing Conformational Stability of Wild-Type and Mutant Vasopressin V2 Receptors
- Pharmacologic Chaperones as a Potential Treatment for X-linked Nephrogenic Diabetes Insipidus
- Pharmacological Chaperones Rescue Cell-Surface Expression and Function of Misfolded V2 Vasopressin Receptor Mutants
- Pharmacological Chaperones in Nephrogenic Diabetes Insipidus: Possibilities for Clinical Application
- Properties of the Human Arginine Vasopressin V2 Receptor after Site-Directed Mutagenesis of its Putative Palmitoylation Site
- Rescue of Vasopressin V2 Receptor Mutants by Chemical Chaperones: Specificity and Mechanism
- Rescue of a Nephrogenic Diabetes Insipidus-Causing Vasopressin V2 Receptor Mutant by Cell-Penetrating Peptides
- Routing of the aquaporin-2 water channel in health and disease.
- Sequence-Specific "Gene Signatures" can be Obtained by PCR with Single Specific Primers at Low Stringency
- The C-Terminal Tail of Aquaporin-2 Determines Apical Trafficking
- The Effect of Eight V2 Vasopressin Receptor Mutations on Stimulation of Adenylyl Cyclase and Binding to Vasopressin
- The Molecular Basis of Nephrogenic Diabetes Insipidus
- Truncated V2 Vasopressin Receptors as Negative Regulators of Wild-Type V2 Receptor Function
- Vasopressin V2 Receptor Mutants that Cause X-linked Nephrogenic Diabetes Insipidus: Analysis of Expression, Processing, and Function
Used in 4 Article bodies
Used in 4 Article bodies
- Importance of the Mercury-Sensitive Cysteine on Function and Routing of AQP1 and AQP2 in Oocytes
- Inborn Errors of Signal Transduction: Mutations in G Proteins and G Protein-coupled Receptors as a Cause of Disease
- Molecular Analysis of X-Linked Nephrogenic Diabetes Insipidus
- Role of Aquaporin-2 Water Channels in Urinary Concentration and Dilution Defects
Used in 33 Article translations
Used in 33 Article translations
- A Dileucine Sequence and an Upstream Glutamate Residue in the Intracellular Carboxyl Terminus of the Vasopressin V2 Receptor are Essential for Cell Surface Transport in COS.M6 Cells
- A Fully Active Nonglycosylated V2 Vasopressin Receptor
- Aminoglycoside Pretreatment Partially Restores the Function of Truncated V2 Vasopressin Receptors Found in Patients with Nephrogenic Diabetes Insipidus
- 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
- Aquaporin-2 Water Channel Mutations and Nephrogenic Diabetes Insipidus: New Variations on a Theme
- Association of Calnexin With Wild Type and Mutant AVPR2 that Cause Nephrogenic Diabetes Insipidus
- Characterization of Vasopressin V2 Receptor Mutants in Nephrogenic Diabetes Insipidus in a Polarized Cell Model
- Disease-Causing V2 Vasopressin Receptors are Retained in Different Compartments of the Early Secretory Pathway
- Evidence for Stabilization of Aquaporin-2 Folding Mutants by N-linked Glycosylation in the Endoplasmic Reticulum
- Expression Studies of Two Vasopressin V2 Receptor Gene Mutations, R202C and 804insG, in Nephrogenic Diabetes Insipidus
- Folding and Cell Surface Expression of the Vasopressin V2 Receptor: Requirement of the Intracellular C-terminus
- Functional Analysis of Aquaporin-2 Mutants Associated with Nephrogenic Diabetes Insipidus by Yeast Expression
- Functional Rescue of Mutant V2 Vasopressin Receptors Causing Nephrogenic Diabetes Insipidus by a Co-Expressed Receptor Polypeptide
- Functional Rescue of Vasopressin V2 Receptor Mutants in MDCK Cells by Pharmacochaperones: Relevance to Therapy of Nephrogenic Diabetes Insipidus
- Functional Rescue of the Constitutively Internalized V2 Vasopressin Receptor Mutant R137H by the Pharmacological Chaperone Action of SR49059
- Functional Rescue of the Nephrogenic Diabetes Insipidus-Causing Vasopressin V2 Receptor Mutants G185C and R202C by a Second Site Suppressor Mutation
- Importance of the Mercury-Sensitive Cysteine on Function and Routing of AQP1 and AQP2 in Oocytes
- Misfolding of Mutant Aquaporin-2 Water Channels in Nephrogenic Diabetes Insipidus
- Molecular Aspects of Vasopressin Receptor Function
- Molecular Genetic Study of Congenital Nephrogenic Diabetes Insipidus and Rescue of Mutant Vasopressin V2 Receptor by Chemical Chaperones
- Pathogenesis and Treatment of Autosomal-Dominant Nephrogenic Diabetes Insipidus Caused by an Aquaporin 2 Mutation
- Pharmacochaperones Post-Translationally Enhance Cell Surface Expression by Increasing Conformational Stability of Wild-Type and Mutant Vasopressin V2 Receptors
- Pharmacologic Chaperones as a Potential Treatment for X-linked Nephrogenic Diabetes Insipidus
- Polarized Expression of the Vasopressin V2 Receptor in Madin-Darby Canine Kidney Cells
- Properties of the Human Arginine Vasopressin V2 Receptor after Site-Directed Mutagenesis of its Putative Palmitoylation Site
- Relief of Nocturnal Enuresis by Desmopressin is Kidney and Vasopressin Type 2 Receptor Independent
- Rescue of Vasopressin V2 Receptor Mutants by Chemical Chaperones: Specificity and Mechanism
- Rescue of a Nephrogenic Diabetes Insipidus-Causing Vasopressin V2 Receptor Mutant by Cell-Penetrating Peptides
- Switch from an Aquaporin to a Glycerol Channel by Two Amino Acids Substitution
- The Proteasome is Involved in the Degradation of Different Aquaporin-2 Mutants Causing Nephrogenic Diabetes Insipidus
- Therapeutic Potential of Vasopressin Receptor Antagonists
- Vasopressin V2 Receptor Mutants that Cause X-linked Nephrogenic Diabetes Insipidus: Analysis of Expression, Processing, and Function
- Water Channels Encoded by Mutant Aquaporin-2 Genes in Nephrogenic Diabetes Insipidus are Impaired in Their Cellular Routing
Used in 30 Proceeding abstracts
Used in 30 Proceeding abstracts
- Rescue of the Cell Surface Expression of Vasopressin V2 Receptor Mutants in Nephrogenic Diabetes Insipidus
- A proposal for the building and maintenance of an AVPR2 molecular model database
- Binding properties and cAMP production study of 7 mutant V2 receptors related to cNDI
- Cell biological and functional analysis of five new Aquaporin-2 gene missense mutations in recessive Nephrogenic Diabetes Insipidus
- Characterization of mutant vasopressin V2 receptors with a misfolded AVP binding site
- Clinical Data and Cell Biological Aspects of Mutations in Nephrogenic Diabetes Insipidus
- Compartmentalization of NDI-causing vasopressin V2 receptor mutants in the early secretory pathway
- Consequences of tetramerization and expression levels of Aquaporin-2 in phenotype-genotype correlation studies in autosomal NDI
- Decrease in urine volume and increase in urine osmolality after SR49059 administration in five adult male patients with X-linked nephrogenic diabetes insipidus
- Determination of the functionality of AQP2 missense mutants in recessive NDI
- Differences between ER-retained vasopressin V2 receptor mutants in antagonist-mediated restoration of cell surface expression
- Functional rescue of three vasopressin V2 receptor mutants causing nephrogenic diabetes insipidus by a second site suppressor mutation
- Functional studies of twelve mutant V2 vasopressin receptors related to nephrogenic diabetes insipidus: molecular basis of a mild clinical phenotype.
- Gene Mutation Analysis of NDI patients in Japan
- High proportion of ROMK processing defects underlying hyperprostaglandin E syndrome/antenatal Bartter syndrome
- 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 of the vasopressin V2 receptor gene in X-linked Nephrogenic Diabetes Insipidus: functional analysis of receptor mutants and identification of new mutations in Italian families.
- Naturally occurring and in vitro mutations defining the role of the NPXXY motif in the vasopressin V2 receptor
- Nephrogenic Diabetes Insipidus Patients in Japan
- Nephrogenic diabetes insipidus in Italian families
- Pharmacological Chaperones Functionally Rescue Misfolded V2-Vasopressin Receptor Mutants that Cause Nephrogenic Diabetes Insipidus: Potential Clinical Implications
- Pharmacological chaperones functionally rescue misfolded mutant V2 vasopressin receptors that cause nephrogenic diabetes insipidus
- Quality control of nephrogenic diabetes insipidus-causing vasopressin V2 receptor mutants in the ER and in the ER/Golgi intermediate compartment
- Role of phosphorylation in the trafficking and shuttling of the Aquaporin-2 water channel
- Routing and function of mutant AQP2 water channels in nephrogenic diabetes insipidus
- Structure-Function Analysis of the V2 Vasopressin Receptor
- Transport Defects of V2 Receptor Mutants Found in Patients with X-linked Nephrogenic Diabetes Insipidus
- V2 Vasopressin Receptors in NDI: Where did they go?
- Wild-type aquaporin-2 rescues a novel aquaporin-2 mutant in recessive Nephrogenic Diabetes Insipidus to the apical plasma membrane
Used in 20 Proceeding translations
Used in 20 Proceeding translations
- Rescue of the Cell Surface Expression of Vasopressin V2 Receptor Mutants in Nephrogenic Diabetes Insipidus
- A proposal for the building and maintenance of an AVPR2 molecular model database
- Binding properties and cAMP production study of 7 mutant V2 receptors related to cNDI
- Decrease in urine volume and increase in urine osmolality after SR49059 administration in five adult male patients with X-linked nephrogenic diabetes insipidus
- Determination of the functionality of AQP2 missense mutants in recessive NDI
- Differences between ER-retained vasopressin V2 receptor mutants in antagonist-mediated restoration of cell surface expression
- Functional rescue of three vasopressin V2 receptor mutants causing nephrogenic diabetes insipidus by a second site suppressor mutation
- High proportion of ROMK processing defects underlying hyperprostaglandin E syndrome/antenatal Bartter syndrome
- 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
- Naturally occurring and in vitro mutations defining the role of the NPXXY motif in the vasopressin V2 receptor
- Nephrogenic diabetes insipidus in Italian families
- New insights in water channel physiology revealed by transgenic mouse models
- Pharmacological Chaperones Functionally Rescue Misfolded V2-Vasopressin Receptor Mutants that Cause Nephrogenic Diabetes Insipidus: Potential Clinical Implications
- Pharmacological chaperones functionally rescue misfolded mutant V2 vasopressin receptors that cause nephrogenic diabetes insipidus
- Phenotype of aquaporin knockout mice, and AQP2 misprocessing in NDI
- Quality control of nephrogenic diabetes insipidus-causing vasopressin V2 receptor mutants in the ER and in the ER/Golgi intermediate compartment
- Routing and function of mutant AQP2 water channels in nephrogenic diabetes insipidus
- The stoichiometry of phosphorylated and non-phosphorylated monomers in an aquaporin-2 tetramer determines its subcellular localization
- Wild-type aquaporin-2 rescues a novel aquaporin-2 mutant in recessive Nephrogenic Diabetes Insipidus to the apical plasma membrane



