mutated
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:
- mutated
Used in 13 Article abstracts
Used in 13 Article abstracts
- Aquaporin Molecular Biology and Clinical Abnormalities of the Water Transport Channels
- Aquaporin-2, a Vasopressin-sensitive Water Channel, and Nephrogenic Diabetes Insipidus
- Diabetes Insipidus (Hendy, Bichet)
- Identification of Agonist Binding Sites of Vasopressin and Oxytocin Receptors
- Inhibition of Endocytosis Causes Phosphorylation (S256)-Independent Plasma Membrane Accumulation of AQP-2
- Nephrogenic Diabetes Insipidus Caused By Mutation of Tyr205: A Key Residue of V2 Vasopressin Receptor Function
- Ser-256 Phosphorylation Dynamics of Aquaporin 2 During Maturation From the Endoplasmic Reticulum to the Vesicular Compartment in Renal Cells
- Structural Implication for Receptor Oligomerization from Functional Reconstitution Studies of Mutant V2 Vasopressin Receptors
- Structure and Function of Kidney Water Channels
- The C-Terminal Tail of Aquaporin-2 Determines Apical Trafficking
- The Ins and Outs of Aquaporin-2 Trafficking
- [Diseases Caused by Disorders of Membrane Transport: an Overview] (Japanese)
- cDNA and Genomic Cloning of Mouse Aquaporin-2: Functional Analysis of an Orthologous Mutant Causing Nephrogenic Diabetes Insipidus
Used in 106 Article translations
Used in 106 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 Mouse Model to Test the in vivo Efficacy of Chemical Chaperones
- 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
- A Null Mutation in the Vasopressin V2 Receptor Gene (AVPR2) Associated with Nephrogenic Diabetes Insipidus in the Hopewell Kindred
- Aminoglycoside Pretreatment Partially Restores the Function of Truncated V2 Vasopressin Receptors Found in Patients with Nephrogenic Diabetes Insipidus
- 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
- An Impaired Routing of Wild-type Aquaporin-2 after Tetramerization with an Aquaporin-2 Mutant Explains Dominant Nephrogenic Diabetes Insipidus
- An X-linked NDI Mutation Reveals a Requirement for Cell Surface V2R Expression
- 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
- 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 Inheritance of Vasopressin-Resistant Diabetes Insipidus
- Autosomal Recessive Nephrogenic Diabetes Insipidus Caused by an Aquaporin-2 Mutation
- Binding-, Intracellular Transport-, and Biosynthesis-Defective Mutants of Vasopressin Type 2 Receptor in Patients with X-Linked Nephrogenic Diabetes Insipidus
- Biochemical Basis of Partial Nephrogenic Diabetes Insipidus Phenotypes
- Brief Report: A Molecular Defect in the Vasopressin V2-Receptor Gene Causing Nephrogenic Diabetes Insipidus
- Brief Report: A Mutation in the Vasopressin V2-Receptor Gene in a Kindred with X-Linked 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
- Cloning of the Human Type-2 Vasopressin Receptor Gene
- Cognitive and Psychosocial Functioning of Patients with Congenital Nephrogenic Diabetes Insipidus
- Colocalization of the Gene for Nephrogenic Diabetes Insipidus (DIR) and the Vasopressin Type 2 Receptor Gene (AVPR2) in the Xq28 Region
- Congenital Nephrogenic Diabetes Insipidus
- Defective Aquaporin-2 Trafficking in Nephrogenic Diabetes Insipidus and Correction by Chemical Chaperones
- Defects of G Protein-Coupled Signal Transduction in Human Disease
- Derivatives of Somatic Cell Hybrids Which Carry the Human Gene Locus for Nephrogenic Diabetes Insipidus (NDI) Express Functional Vasopressin Renal V2-type Receptors
- Detection of Skewed X-Inactivation in Two Female Carriers of Vasopressin Type 2 Receptor Gene Mutation
- Diabetes Insipidus (Hendy, Bichet)
- Differential Diagnosis and Pathophysiology of Diabetes Insipidus
- Discovery of Aquaporins: a Breakthrough in Research on Renal Water Transport
- Epinephrine and dDAVP Administration in Patients with Congenital Nephrogenic Diabetes Insipidus. Evidence for a pre-cyclic AMP V2 Receptor Defective Mechanism
- Evidence for Intact V1-vasopressin Receptors in Congenital Nephrogenic Diabetes Insipidus
- Factor VIII Response to Vasopressin in Nephrogenic Diabetes Insipidus
- Functional Rescue of Mutant V2 Vasopressin Receptors Causing Nephrogenic Diabetes Insipidus by a Co-Expressed Receptor Polypeptide
- 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
- G-Protein-Coupled Receptors in Endocrine Disease
- GS-Activating Receptors: Modes of Transmembrane Signalling and Genetic Defects
- Genetic Renal Diseases in Children
- Heterogeneous AVPR2 Gene Mutations in Congenital Nephrogenic Diabetes Insipidus
- Heteroligomerization of an Aquaporin-2 Mutant with Wild-Type Aquaporin-2 and Their Misrouting to Late Endosomes/Lysosomes Explains Dominant Nephrogenic Diabetes Insipidus
- Importance of the Mercury-Sensitive Cysteine on Function and Routing of AQP1 and AQP2 in Oocytes
- Inherited Diseases of the Kidney
- Linkage of X-linked Nephrogenic Diabetes Insipidus with DXS52, a Polymorphic DNA Marker
- Maturation of Receptor Proteins in Eukaryotic Expression Systems
- 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 Aspects of Vasopressin Receptor Function
- Molecular Biology of Diabetes Insipidus
- 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 Insights into the Pathogenesis of Inherited Renal Tubular Disorders
- Molecular and Cellular Defects in Nephrogenic Diabetes Insipidus
- Mutations and Diseases of G Protein Coupled Receptors
- Mutations in the Founder of the MIP Gene Family Underlie Cataract Development in the Mouse
- 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 Two Families with Nephrogenic Diabetes Insipidus
- Mutations in the Vasopressin V2 Receptor and Aquaporin-2 Genes in 12 Families with Congenital Nephrogenic Diabetes Insipidus
- Nature and Recurrence of AVPR2 Mutations in X-Linked Nephrogenic Diabetes Insipidus
- Nephrogenic Diabetes Insipidus (Bichet - November 1998)
- Nephrogenic Diabetes Insipidus Caused By Mutation of Tyr205: A Key Residue of V2 Vasopressin Receptor Function
- Nephrogenic Diabetes Insipidus, Thiazide Treatment and Renal Cell Carcinoma
- Nephrogenic Diabetes Insipidus. A V2 Vasopressin Receptor Unable to Stimulate Adenylyl Cyclase
- Nephrogenic Diabetes Insipidus: An X Chromosome-Linked Dominant Inheritance Pattern with a Vasopressin Type 2 Receptor Gene that is Structurally Normal
- Nephrogenic Diabetes Insipidus: Causes Revealed
- Nephrogenic Diabetes Insipidus: Clinical Symptoms, Pathogenesis, Genetics and Treatment
- Nephrogenic Diabetes Insipidus: Close Linkage with Markers from the Distal Long Arm of the Human X Chromosome
- Normal Fibrinolytic Responses to 1-Desamino-8-D-Arginine Vasopressin in Patients with Nephrogenic Diabetes Insipidus Caused by Mutations in the Aquaporin 2 Gene
- Novel Mutations in the V2 Vasopressin Receptor Gene of Patients with X-Linked Nephrogenic Diabetes Insipidus
- 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
- Pharmacological Chaperones: Potential Treatment for Conformational Diseases
- Phosphorylation of the V2 Vasopressin Receptor
- Physiology and Pathophysiology of Aquaporins
- Properties of the Human Arginine Vasopressin V2 Receptor after Site-Directed Mutagenesis of its Putative Palmitoylation Site
- Proposed Cause of Marked Vasopressin Resistance in a Female with an X-Linked Recessive V2 Receptor Abnormality
- Reconstitution of Mutant V2 Vasopressin Receptors by Adenovirus-mediated Gene Transfer
- Rescue of Vasopressin V2 Receptor Mutants by Chemical Chaperones: Specificity and Mechanism
- Reversed Polarized Delivery of an Aquaporin-2 Mutant Causes Dominant Nephrogenic Diabetes Insipidus
- Role of Aquaporin Water Channels in Kidney and Lung
- Severely Impaired Urinary Concentrating Ability in Transgenic Mice Lacking Aquaporin-1 Water Channels
- Severely Impaired Urine-Concentrating Ability in Mice Lacking the CLC-K1 Chloride Channel
- Stimulation of AQP2 Membrane Insertion in Renal Epithelial Cells In Vitro and In Vivo by the cGMP Phosphodiesterase Inhibitor Sildenafil Citrate (Viagra)
- The Aquaporin Family of Molecular Water Channels
- 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 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
- Three-point Linkage Analysis using Multiple DNA Polymorphic Markers in Families with X-linked Nephrogenic Diabetes Insipidus
- Two Novel Aquaporin-2 Mutations in a Sporadic Japanese Patient with Autosomal Recessive 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
- Two Vasopressin Type 2 Receptor Gene Mutations R143P and Delta V278 in Patients with Nephrogenic Diabetes Insipidus Impair Ligand Binding of the Receptor
- Urinary Content of Aquaporin 1 and 2 in Nephrogenic Diabetes Insipidus
- V2 Vasopressin Receptor Dysfunction in Nephrogenic Diabetes Insipidus Caused By Different Molecular Mechanisms
- Vasopressin Receptors in Health and Disease
- Vasopressin Type-2 Receptor and Aquaporin-2 Water Channel Mutants in Nephrogenic Diabetes Insipidus
- Water Transport Across Mammalian Cell Membranes
- X-linked Nephrogenic Diabetes Insipidus: from the Ship Hopewell to RFLP Studies
- cDNA and Genomic Cloning of Mouse Aquaporin-2: Functional Analysis of an Orthologous Mutant Causing Nephrogenic Diabetes Insipidus
Used in 5 Faq answers
Used in 5 Faq answers
- Am I able to have children if I have NDI? If so, are they likely to get it as well?
- Am I able to have children if I have NDI? If so, are they likely to get it as well?
- Could you explain, in layman's terms, what happens genetically when a father, daughter, and male child of the daughter all have DI?
- How is NDI diagnosed?
- Will NDI ever go away?
Used in 11 Proceeding abstracts
Used in 11 Proceeding abstracts
- Rescue of the Cell Surface Expression of Vasopressin V2 Receptor Mutants in Nephrogenic Diabetes Insipidus
- A defect in AQP2 phosphorylation at Ser256 in the Golgi apparatus might explain the molecular basis of the dominant form of NDI caused by the mutation E258K-AQP2
- Analysis of naturally occurring and in vitro mutations of the V2 receptor gene interfering with proper splicing
- Bypassing the vasopressin receptor in aquaporin 2 trafficking: from cell biology to potential therapy of nephrogenic diabetes insipidus
- Gene Mutation Analysis of NDI patients in Japan
- Pharmacological chaperones functionally rescue misfolded mutant V2 vasopressin receptors that cause nephrogenic diabetes insipidus
- Protein Kinase C involvement in aquaporin-2 endocytosis in cell culture
- Role of phosphorylation in the trafficking and shuttling of the Aquaporin-2 water channel
- Structure of V2 vasopressin receptor oligomers: evidence for contact dimer formation
- Toward gene therapy for nephrogenic diabetes insipidus
- Two new Aquaporin-2 mutations responsible for Congenital Nephrogenic Diabetes Insipidus
Used in 16 Proceeding translations
Used in 16 Proceeding translations
- Rescue of the Cell Surface Expression of Vasopressin V2 Receptor Mutants in Nephrogenic Diabetes Insipidus
- Analysis of naturally occurring and in vitro mutations of the V2 receptor gene interfering with proper splicing
- Biochemical Characterization of Partial Nephrogenic Diabetes Insipidus (NDI) Phenotypes
- Cell biological and functional analysis of five new Aquaporin-2 gene missense mutations in recessive Nephrogenic Diabetes Insipidus
- Chemical Chaperones as a Novel Therapeutic Strategy for NDI
- Clinical Data and Cell Biological Aspects of Mutations in Nephrogenic Diabetes Insipidus
- 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
- Functional studies of twelve mutant V2 vasopressin receptors related to nephrogenic diabetes insipidus: molecular basis of a mild clinical phenotype.
- Nephrogenic Diabetes Insipidus in a Palestine Sibship
- Recycling of the V2 Vasopressin Receptor
- Structure of V2 vasopressin receptor oligomers: evidence for contact dimer formation
- The Medical Geneticist's Perspective on NDI Research
- Transport Defects of V2 Receptor Mutants Found in Patients with X-linked Nephrogenic Diabetes Insipidus
- V2 vasopressin receptor function studied in mice and yeast
