amino acid
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:
- amino acid
-
An amphoteric organic acid containing the amino group NH2; esp.: any of the alpha-amino acids that are the chief components of proteins and are synthesized by living cells or are obtained as essential components of the diet.
Used in 19 Article abstracts
Used in 19 Article abstracts
- A Novel Polymorphism in the Coding Region of the Vasopressin Type 2 Receptor Gene
- A Role for K268 in V2R Folding
- AVPR2 Variants and V2 Vasopressin Receptor Function in Nephrogenic Diabetes Insipidus
- An X-linked NDI Mutation Reveals a Requirement for Cell Surface V2R Expression
- Characterization of Vasopressin V2 Receptor Mutants in Nephrogenic Diabetes Insipidus in a Polarized Cell Model
- Functional Studies of Twelve Mutant V2 Vasopressin Receptors Related to Nephrogenic Diabetes Insipidus: Molecular Basis of a Mild Clinical Phenotype
- Heterogeneous AVPR2 Gene Mutations in Congenital Nephrogenic Diabetes Insipidus
- Misfolded Vasopressin V2 Receptors Caused by Extracellular Point Mutations Entail Congenital Nephrogenic Diabetes Insipidus.
- Nephrogenic Diabetes Insipidus in Mice Lacking Aquaporin-3 Water Channels
- Nephrogenic Diabetes Insipidus. A V2 Vasopressin Receptor Unable to Stimulate Adenylyl Cyclase
- Palmitoylation of the V2 Vasopressin Receptor
- Pathogenesis of Nephrogenic Diabetes Insipidus by Aquaporin-2 C-Terminus Mutations
- Pharmacochaperones Post-Translationally Enhance Cell Surface Expression by Increasing Conformational Stability of Wild-Type and Mutant Vasopressin V2 Receptors
- Stimulation of AQP2 Membrane Insertion in Renal Epithelial Cells In Vitro and In Vivo by the cGMP Phosphodiesterase Inhibitor Sildenafil Citrate (Viagra)
- The 17 kDa Band Identified by Multiple Anti-Aquaporin 2 Antisera in Rat Kidney Medulla is a Histone
- Two Novel Mutations in the Aquaporin-2 and the Vasopressin V2 Receptor Genes in Patients with Congenital Nephrogenic Diabetes Insipidus
- Variant Amino Acids in the Extracellular Loops of Murine and Human Vasopressin V2 Receptors Account for Differences in Cell Surface Expression and Ligand Affinity
- Vasopressin Receptor Mutations and Nephrogenic Diabetes Insipidus
- cDNA Cloning of a Functional Water Channel From Toad Urinary Bladder Epithelium
Used in 69 Article translations
Used in 69 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 Low-Affinity Vasopressin V2-Receptor Gene in a Kindred with X-Linked Nephrogenic Diabetes Insipidus
- A Novel Polymorphism in the Coding Region of the Vasopressin Type 2 Receptor Gene
- A Role for K268 in V2R Folding
- A Serine Cluster Prevents Recycling of the V2 Vasopressin Receptor
- Aminoglycoside Pretreatment Partially Restores the Function of Truncated V2 Vasopressin Receptors Found in Patients with Nephrogenic Diabetes Insipidus
- Aminoglycoside-Mediated Rescue of a Disease-Causing Nonsense Mutation in the V2 Vasopressin Receptor Gene In Vitro and In Vivo
- An Aquaporin-2 Water Channel Mutant Which Causes Autosomal Dominant Nephrogenic Diabetes Insipidus is Retained in the Golgi Complex
- 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
- 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
- Aquaporin-2 Water Channel Mutations and Nephrogenic Diabetes Insipidus: New Variations on a Theme
- Bidirectional Regulation of AQP2 Trafficking and Recycling: Involvement of AQP2-S256 Phosphorylation
- Biochemical Basis of Partial Nephrogenic Diabetes Insipidus Phenotypes
- Brief Report: A Molecular Defect in the Vasopressin V2-Receptor Gene Causing Nephrogenic Diabetes Insipidus
- Characterization of Vasopressin V2 Receptor Mutants in Nephrogenic Diabetes Insipidus in a Polarized Cell Model
- Cloning of an Aquaporin Homologue Present in Water Channel Containing Endosomes of Toad Urinary Bladder
- Defects of G Protein-Coupled Signal Transduction in Human Disease
- 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 Rescue of the Nephrogenic Diabetes Insipidus-Causing Vasopressin V2 Receptor Mutants G185C and R202C 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
- Functional Study of Two V2 Vasopressin Mutant Receptors Related to NDI: P322S and P322H
- G-Protein-Coupled Receptors: Molecular Mechanisms Involved in Receptor Activation and Selectivity of G-Protein Recognition
- Heat Shock Protein 70 Interacts with Aquaporin-2 (AQP2) and Regulates Its Trafficking
- Heterogeneous AVPR2 Gene Mutations in Congenital Nephrogenic Diabetes Insipidus
- Importance of the Mercury-Sensitive Cysteine on Function and Routing of AQP1 and AQP2 in Oocytes
- Inhibition of Endocytosis Causes Phosphorylation (S256)-Independent Plasma Membrane Accumulation of AQP-2
- Molecular Genetic Study of Congenital Nephrogenic Diabetes Insipidus and Rescue of Mutant Vasopressin V2 Receptor by Chemical Chaperones
- Molecular Identification of the Gene Responsible for Congenital Nephrogenic Diabetes Insipidus
- Molecular Mechanisms and Drug Development in Aquaporin Water Channel Diseases: Molecular Mechanism of Water Channel Aquaporin-2 Trafficking
- Mutations and Diseases of G Protein Coupled Receptors
- Mutations in the V2 Vasopressin Receptor Gene are Associated with X-linked Nephrogenic Diabetes Insipidus
- Mutations in the Vasopressin Type 2 Receptor Gene (AVPR2) Associated with Nephrogenic Diabetes Insipidus
- Mutations in the Vasopressin V2 Receptor Gene in Families with Nephrogenic Diabetes Insipidus and Functional Expression of the Q-2 Mutant
- Mutations in the Vasopressin V2 Receptor Gene in Two Families with Nephrogenic Diabetes Insipidus
- Mutations in the Vasopressin V2-Receptor Gene in Three Families of Italian Descent with Nephrogenic Diabetes Insipidus
- Nature and Recurrence of AVPR2 Mutations in X-Linked Nephrogenic Diabetes Insipidus
- Nephrogenic Diabetes Insipidus Caused By Mutation of Tyr205: A Key Residue of V2 Vasopressin Receptor Function
- Nephrogenic Diabetes Insipidus in Mice Lacking All Nitric Oxide Synthase Isoforms
- Nephrogenic Diabetes Insipidus in a Patient Taking Cidofovir
- Nephrogenic Diabetes Insipidus. A V2 Vasopressin Receptor Unable to Stimulate Adenylyl Cyclase
- New Mutations in the AQP2 Gene in Nephrogenic Diabetes Insipidus Resulting in Functional but Misrouted Water Channels
- Novel Mutations in the V2 Vasopressin Receptor Gene of Patients with X-Linked Nephrogenic Diabetes Insipidus
- Novel Vasopressin Type 2 (AVPR2) Gene Mutations in Brazilian Nephrogenic Diabetes Insipidus Patients
- Patients with Autosomal Nephrogenic Diabetes Insipidus Homozygous for Mutations in the Aquaporin 2 Water-Channel Gene
- 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
- Phosphorylation of Aquaporin-2 does not alter the Membrane Water Permeability of Rat Papillary Water Channel-containing Vesicles
- Properties of the Human Arginine Vasopressin V2 Receptor after Site-Directed Mutagenesis of its Putative Palmitoylation Site
- Requirement of Human Renal Water Channel Aquaporin-2 for Vasopressin-Dependent Concentration of Urine
- Rescue of a Nephrogenic Diabetes Insipidus-Causing Vasopressin V2 Receptor Mutant by Cell-Penetrating Peptides
- Reversed Polarized Delivery of an Aquaporin-2 Mutant Causes Dominant Nephrogenic Diabetes Insipidus
- Sequence-Specific "Gene Signatures" can be Obtained by PCR with Single Specific Primers at Low Stringency
- Short-Chain Ubiquitination Mediates the Regulated Endocytosis of the Aquaporin-2 Water Channel
- Six Novel Mutations in the Vasopressin V2 Receptor Gene Causing Nephrogenic Diabetes Insipidus
- Structure and Function of Kidney Water Channels
- Switch from an Aquaporin to a Glycerol Channel by Two Amino Acids Substitution
- The C-Terminal Tail of Aquaporin-2 Determines Apical Trafficking
- The Hydrophobic Amino Acid Residues in the Membrane-Proximal C Tail of the G Protein-Coupled Vasopressin V2 Receptor are Necessary for Transport-Competent Receptor Folding
- The Role of Putative Phosphorylation Sites in the Targeting and Shuttling of the Aquaporin-2 Water Channel
- The Vasopressin Type 2 Receptor Gene. Chromosomal Localization and Its Role in Nephrogenic Diabetes Insipidus
- Three Novel AVPR2 Mutations in Three Japanese Families with X-Linked Nephrogenic Diabetes Insipidus
- Two Novel Aquaporin-2 Mutations Responsible for Congenital Nephrogenic Diabetes Insipidus in Chinese Families
- Two Novel Mutations in the Aquaporin-2 and the Vasopressin V2 Receptor Genes in Patients with Congenital Nephrogenic Diabetes Insipidus
- Two Novel Mutations in the Vasopressin V2 Receptor Gene in Patients with Congenital Nephrogenic Diabetes Insipidus
- Two Novel Mutations in the Vasopressin V2 Receptor Gene in Unrelated Japanese Kindreds with Nephrogenic Diabetes Insipidus
- V2 Vasopressin Receptor Dysfunction in Nephrogenic Diabetes Insipidus Caused By Different Molecular Mechanisms
- 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
Used in 8 Proceeding abstracts
Used in 8 Proceeding abstracts
- Characterization of mutant vasopressin V2 receptors with a misfolded AVP binding site
- Comparative analysis of human and murine vasopressin V2 receptor genes and their encoded proteins reveal striking differences in their genomic structure and functional properties
- Differences between ER-retained vasopressin V2 receptor mutants in antagonist-mediated restoration of cell surface expression
- High proportion of ROMK processing defects underlying hyperprostaglandin E syndrome/antenatal Bartter syndrome
- Naturally occurring and in vitro mutations defining the role of the NPXXY motif in the vasopressin V2 receptor
- Nephrogenic Diabetes Insipidus Mutation Database
- Nephrogenic Diabetes Insipidus in mice lacking aquaporin-3 water channels
- Supplementation of Receptor Fragments: An approach to Functionally Rescue Mutant V2 Vasopressin Receptors
Used in 16 Proceeding translations
Used in 16 Proceeding translations
- Cell biological and functional analysis of five new Aquaporin-2 gene missense mutations in recessive Nephrogenic Diabetes Insipidus
- Comparative analysis of human and murine vasopressin V2 receptor genes and their encoded proteins reveal striking differences in their genomic structure and functional properties
- Differences between ER-retained vasopressin V2 receptor mutants in antagonist-mediated restoration of cell surface expression
- Functional studies of twelve mutant V2 vasopressin receptors related to nephrogenic diabetes insipidus: molecular basis of a mild clinical phenotype.
- Identification of sequence determinants that direct different intracellular folding pathways for kidney aquaporins
- Lack of AVP-induced phosphorylation of the Aquaporin-2 mutants AQP2-R254L and AQP2-R254Q explains dominant Nephrogenic Diabetes Insipidus
- 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 Mutation Database
- Nephrogenic diabetes insipidus in Italian families
- O-Glycosylation of the V2 vasopressin receptor
- Recycling of the V2 Vasopressin Receptor
- Regulation and distribution of phosphorylated aquaporin-2 (AQP2) in rat kidney collecting duct principal cells
- Regulation of AQP2 trafficking and recycling by dopamine, PGE2 and ANP: involvement of AQP2-S256 phosphorylation
- Routing and function of mutant AQP2 water channels in nephrogenic diabetes insipidus
- Structural evolution of the V2 vasopressin receptor in mammals
Used in 42 Term definitions
Used in 42 Term definitions
- APUD cells
- C-terminal
- E242X
- G protein-coupled receptors
- L-arginine
- a helix
- amino acid residue
- amino acid sequence
- amino acids
- amino acids
- arginine
- carboxy terminus
- codon
- genetic code
- genetic coding
- heavy chains
- histidine
- homocysteine
- homology regions
- homopolymer
- idiotypic variation
- leucine
- light chains
- lysine
- methionine
- mutation
- parathyroid hormone
- phenylalanine
- polypeptide chain
- proline
- protein kinase
- pyridoxal phosphate
- receptor protein
- residue
- residues
- transaminase
- transamination
- truncated protein
- tryptophan
- uremia
- valine
- variable region