genes
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:
- genes
-
In the singular: A segment of a DNA molecule that contains all the information required for synthesis of a product (polypeptide chain or RNA molecule), including both coding and non-coding sequences. It is the biological unit of heredity, self-reproducing, and transmitted from parent to progeny. Each gene has a specific position (locus) on the chromosome map. From the standpoint of function, genes are conceived of as structural, operator, and regulatory genes.
wild-type gene - The normal allele of a gene, sometimes symbolized by +.
X-linked gene - A gene carried on the X chromosome; the corresponding trait, whether dominant or recessive, is always expressed in males, who have only one X chromosome. X linkage is used sometimes synonymously with sex linkage since no genetic disorders have as yet been associated with genes on the Y chromosome.
Used in 27 Article abstracts
Used in 27 Article abstracts
- Aquaporin-2 Expression in Primary Cultured Rat Inner Medullary Collecting Duct Cells
- Colocalization of the Gene for Nephrogenic Diabetes Insipidus (DIR) and the Vasopressin Type 2 Receptor Gene (AVPR2) in the Xq28 Region
- Comparative Mapping on the Mouse and Human X Chromosomes of a Human cDNA Clone Encoding the Vasopressin Renal-Type Receptor (AVP2R)
- Congenital Nephrogenic Diabetes Insipidus
- Detection of Skewed X-Inactivation in Two Female Carriers of Vasopressin Type 2 Receptor Gene Mutation
- Diabetes Insipidus (Hendy, Bichet)
- Discovery of Aquaporins: a Breakthrough in Research on Renal Water Transport
- First Intracellular Loop of the Human Cholecystokinin-A Receptor is Essential for Cyclic AMP Signaling in Transfected HEK-293 Cells
- Inherited Diseases of the Kidney
- Isolation of Human aquaporin-CD Gene
- Mild Nephrogenic Diabetes Insipidus Caused by Foxa1 Deficiency
- Molecular Analyses of the Vasopressin Type 2 Receptor and Aquaporin-2 Genes in Brazilian Kindreds with Nephrogenic Diabetes Insipidus
- Molecular Biology of Diabetes Insipidus
- Nephrogenic Diabetes Insipidus in Mice Lacking All Nitric Oxide Synthase Isoforms
- Nephrogenic Diabetes Insipidus. A Personal Perspective
- Nephrogenic Diabetes Insipidus: Clinical Symptoms, Pathogenesis, Genetics and Treatment
- Pathogenesis of Nephrogenic Diabetes Insipidus by Aquaporin-2 C-Terminus Mutations
- The Molecular Basis of Nephrogenic Diabetes Insipidus
- Three Families with Autosomal Dominant Nephrogenic Diabetes Insipidus Caused by Aquaporin-2 Mutations in the C-terminus
- Tonicity-Responsive Enhancer Binding Protein is an Essential Regulator of Aquaporin-2 Expression in Renal Collecting Duct Principal Cells
- Two Novel Mutations in the Aquaporin-2 and the Vasopressin V2 Receptor Genes in Patients with Congenital Nephrogenic Diabetes Insipidus
- Two Novel Types of Contiguous Gene Deletion of the AVPR2 and ARHGAP4 Genes in Unrelated Japanese Kindreds with Nephrogenic Diabetes Insipidus
- Type 2 Vasopressin Receptor Gene, the Gene Responsible for Nephrogenic Diabetes Insipidus, Maps to Xq28 Close to the LICAM Gene
- Water Channels and Urea Transporters
- [Diseases Caused by Disorders of Membrane Transport: an Overview] (Japanese)
- [Non-Lithiasic Hereditary Tubulopathies] (Article in French)
- cDNA Array Identification of Genes Regulated in Rat Renal Medulla in Response to Vasopressin Infusion
Used in 6 Article bodies
Used in 6 Article bodies
- A Novel Polymorphism in the Coding Region of the Vasopressin Type 2 Receptor Gene
- 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
- Hereditary Vasopressin Resistance in Man and Mouse
- 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
- Proposed Cause of Marked Vasopressin Resistance in a Female with an X-Linked Recessive V2 Receptor Abnormality
Used in 80 Article translations
Used in 80 Article translations
- 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
- 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, a Vasopressin-sensitive Water Channel, and 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
- 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 Mutation in the Vasopressin V2-Receptor Gene in a Kindred with X-Linked Nephrogenic Diabetes Insipidus
- Calcineurin-NFATc Signaling Pathway Regulates AQP2 Expression in Response to Calcium Signals and Osmotic Stress
- 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
- Colocalization of the Gene for Nephrogenic Diabetes Insipidus (DIR) and the Vasopressin Type 2 Receptor Gene (AVPR2) in the Xq28 Region
- Comparative Mapping on the Mouse and Human X Chromosomes of a Human cDNA Clone Encoding the Vasopressin Renal-Type Receptor (AVP2R)
- Congenital Nephrogenic Diabetes Insipidus
- Constitutive Nitric Oxide Synthase in Hypothalami of Normal and Hereditary Diabetes Insipidus Rats and Mice: Role of Nitric Oxide in Osmotic Regulation and its Mechanism
- Defects of G Protein-Coupled Signal Transduction in Human Disease
- Detection of Skewed X-Inactivation in Two Female Carriers of Vasopressin Type 2 Receptor Gene Mutation
- Diabetes Insipidus (Robertson)
- Discovery of Aquaporins: a Breakthrough in Research on Renal Water Transport
- Expression Studies of Two Vasopressin V2 Receptor Gene Mutations, R202C and 804insG, in Nephrogenic Diabetes Insipidus
- Factor VIII Response to Vasopressin in Nephrogenic Diabetes Insipidus
- 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 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
- Genetic Renal Diseases in Children
- Hereditary Nephrogenic Diabetes Insipidus
- Hereditary Vasopressin Resistance in Man and Mouse
- Heterogeneous AVPR2 Gene Mutations in Congenital Nephrogenic Diabetes Insipidus
- Identification and Characterization of Aquaporin-2 Water Channel Mutations Causing Nephrogenic Diabetes Insipidus with Partial Vasopressin Response
- Increased Renal Responsiveness to Vasopressin and Enhanced V2 Receptor Signaling in RGS2-/- Mice
- Inherited Diseases of the Kidney
- Intrafamilial Phenotype Variability in Nephrogenic Diabetes Insipidus
- Isolation of Human aquaporin-CD Gene
- Linkage Analyses in Families with Nephrogenic Diabetes Insipidus
- Linkage of X-linked Nephrogenic Diabetes Insipidus with DXS52, a Polymorphic DNA Marker
- Mild Nephrogenic Diabetes Insipidus Caused by Foxa1 Deficiency
- Molecular Analyses of the Vasopressin Type 2 Receptor and Aquaporin-2 Genes in Brazilian Kindreds with Nephrogenic Diabetes Insipidus
- Molecular Biology of Diabetes Insipidus
- Molecular Insights into the Pathogenesis of Inherited Renal Tubular Disorders
- Molecular and Cellular Biology of Vasopressin and Oxytocin Receptors and Action in the Kidney
- Molecular and Cellular Defects in 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 and Aquaporin-2 Genes in 12 Families with Congenital 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 (Bichet - November 1998)
- Nephrogenic Diabetes Insipidus Presenting After Head Trauma
- Nephrogenic Diabetes Insipidus in Mice Lacking All Nitric Oxide Synthase Isoforms
- 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: Close Linkage with Markers from the Distal Long Arm of the Human X Chromosome
- Nephrogenic Diabetes Insipidus: Identification of the Genetic Defect
- Normal Fibrinolytic Responses to 1-Desamino-8-D-Arginine Vasopressin in Patients with Nephrogenic Diabetes Insipidus Caused by Mutations in the Aquaporin 2 Gene
- On Hereditary Diabetes Insipidus With Special Regard to a Sex-Linked Form
- Patients with Autosomal Nephrogenic Diabetes Insipidus Homozygous for Mutations in the Aquaporin 2 Water-Channel Gene
- Pharmacological Chaperones: Potential Treatment for Conformational Diseases
- Phenotypes Developed in Secretin Receptor-Null Mice Indicated a Role for Secretin in Regulating Renal Water Reabsorption
- Requirement of Human Renal Water Channel Aquaporin-2 for Vasopressin-Dependent Concentration of Urine
- Role of Aquaporin Water Channels in Kidney and Lung
- Sequence-Specific "Gene Signatures" can be Obtained by PCR with Single Specific Primers at Low Stringency
- Structure and Chromosomal Localization of the Human Antidiuretic Hormone Receptor Gene
- The Aquaporin Family of Molecular Water Channels
- The Aquaporin Family of Water Channel Proteins in Clinical Medicine
- The Molecular Basis of Nephrogenic Diabetes Insipidus
- 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 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 Unrelated Japanese Kindreds with Nephrogenic Diabetes Insipidus
- Type 2 Vasopressin Receptor Gene, the Gene Responsible for Nephrogenic Diabetes Insipidus, Maps to Xq28 Close to the LICAM Gene
- Upregulation of Urea Transporter UT-A2 and Water Channels AQP2 and AQP3 in Mice Lacking Urea Transporter UT-B
- Urinary Content of Aquaporin 1 and 2 in Nephrogenic Diabetes Insipidus
- Vasopressin Type-2 Receptor and Aquaporin-2 Water Channel Mutants in Nephrogenic Diabetes Insipidus
- Vasopressin and Oxytocin Receptors
- 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 21 Proceeding abstracts
Used in 21 Proceeding abstracts
- Renal medullary gene expression in aquaporin-1 null mice
- Aquaporin-2 Expression in Primary Cultures of Rat Inner Medullary Collecting Duct Cells - A New In-Vitro Model System Facilitating the Study of the Vasopressin-Regulated Antidiuretic Machinery at the Cellular Level
- Bartter syndrome with sensorineural deafness: molecular genetics
- Clinical Data and Cell Biological Aspects of Mutations in Nephrogenic Diabetes Insipidus
- Collecting Duct Specific Gene Regulation: Creation And Use of Transgenic Mouse Models
- Comparative analysis of human and murine vasopressin V2 receptor genes and their encoded proteins reveal striking differences in their genomic structure and functional properties
- Dysregulation of genes in rats with lithium-induced NDI
- Gene Mutation Analysis of NDI patients in Japan
- Long-range transcriptional regulation of the AVPR2 gene
- Nephrogenic Diabetes Insipidus Patients in Japan
- Osmolality and solute composition regulate aquaporin-2 expression in primary cultured renal principal cells
- Pitfalls in the Differential Diagnosis of Nephrogenic Diabetes Insipidus.
- Rediscovery of Swedish Kindred with X-linked 'Vasopressin-Responsive' Diabetes Insipidus: Validation and Explanation of the Unusual Clinical Phenotype
- The Medical Geneticist's Perspective on NDI Research
- Thirteen Large Deletions/Rearrangements of the AVPR2 Gene Causing X-linked Nephrogenic Diabetes Insipidus
- Toward gene therapy for nephrogenic diabetes insipidus
- Transport Defects of V2 Receptor Mutants Found in Patients with X-linked Nephrogenic Diabetes Insipidus
- Urinary Concentrating Defect in Mice With Selective Deletion of Collecting-Duct Urea Transporter Isoforms, UT-A1 and UT-A3
- V2 Vasopressin Receptors in NDI: Where did they go?
- V2 vasopressin receptor-deficient mouse model: Pathophysiological changes and therapeutical implications
- cDNA Array Analysis Identifies Vasopressin Regulation of 11 bHSD-2 in Rat Renal Collecting Duct
Used in 22 Proceeding translations
Used in 22 Proceeding translations
- Renal medullary gene expression in aquaporin-1 null mice
- Analysis of naturally occurring and in vitro mutations of the V2 receptor gene interfering with proper splicing
- Bartter syndrome with sensorineural deafness: molecular genetics
- Collecting Duct Specific Gene Regulation: Creation And Use of Transgenic Mouse Models
- Comparative analysis of human and murine vasopressin V2 receptor genes and their encoded proteins reveal striking differences in their genomic structure and functional properties
- Complete deletions of the vasopressin type 2 receptor gene in nephrogenic diabetes insipidus
- Dysregulation of genes in rats with lithium-induced NDI
- Functional rescue of truncated V2-Vasopressin-receptors by aminoglycoside-induced misreading of nonsense-mutations
- Gene Mutation Analysis of NDI patients in Japan
- Long-range transcriptional regulation of the AVPR2 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.
- Nephrogenic Diabetes Insipidus Patients in Japan
- Nephrogenic Diabetes Insipidus in mice lacking aquaporin-3 water channels
- Novel Roles of Aquaporin Water Channels Revealed by Phenotype Analysis of Knockout Mice
- Pitfalls in the Differential Diagnosis of Nephrogenic Diabetes Insipidus.
- The Medical Geneticist's Perspective on NDI Research
- Thirteen Large Deletions/Rearrangements of the AVPR2 Gene Causing X-linked Nephrogenic Diabetes Insipidus
- Toward gene therapy for nephrogenic diabetes insipidus
- Transport Defects of V2 Receptor Mutants Found in Patients with X-linked Nephrogenic Diabetes Insipidus
- Two new Aquaporin-2 mutations responsible for Congenital Nephrogenic Diabetes Insipidus
- V2 Vasopressin Receptors in NDI: Where did they go?
- Variations in clinical phenotype associated with different mutations of the V2 receptor gene in X-linked recessive congenital nephrogenic DI (xCNDI)
Used in 52 Term definitions
Used in 52 Term definitions
- AQP2 genes
- Lyon hypothesis
- NOS2
- X linkage
- X-linked gene
- allelic
- blood group
- cancer
- character
- chromatin
- chromosome 21
- deletion
- epigenetic
- express
- expressing
- gene
- gene loci
- genes
- genetic recombination
- genetically
- genetics
- genetotrophic
- genome
- haplotype
- heterogeneous
- human leukocyte antigens
- immunoglobulin chains
- inversion
- inverted
- isoform
- isoforms
- isomorphous
- linkage
- linkage analysis
- locus
- major histocompatibility complex
- mapped
- mapping
- marker
- molecular biology
- monomeric
- mutants
- operon
- overlapping genes
- plasmid
- regulatory gene
- sex linkage
- sharp
- simian virus 40
- splicing
- steroid hormones
- transfected cells
