mutation
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:
- mutation
-
1. A change in form, quality, or some other characteristic.
2. In genetics, a permanent transmissible change in the genetic material, usually in a single gene.
frameshift mutation - A mutation resulting from an addition or subtraction that is not an exact multiple of 3 base pairs in a coding sequence. From the point of mutation onwards, base triplets (codons) are read out of phase; the reading frame of the gene is changed, and a completely different set of amino acids is made into protein.
loss-of-function mutation - Impairment of the function of a gene caused by mutation.
missense mutation - A mutation that changes a codon so that it codes for a different amino acid.
nonsense mutation - A mutation in which one of the three terminator codons in the mRNA (UAG, amber; UAA, ochre; UGA, umber or opal), used to signal the end of a polypeptide, appears in the middle of a genetic message, causes premature termination of transcription, and releases incomplete, generally nonfunctional polypeptides from the ribosome.
point mutation - A mutation resulting from a change in a single base pair in the DNA molecule, caused by the substitution of one nucleotide for another.
Used in 67 Article abstracts
Used in 67 Article abstracts
- Identification of Mutations in the Arginine Vasopressin Receptor 2 Gene in Congenital Nephrogenic Diabetes Insipidus Patients
- A Case of a Novel Mutant Vasopressin Receptor-Dependent Nephrogenic Diabetes Insipidus With Bilateral Non-Obstructive Hydronephrosis in a Middle Aged Man
- A Low-Affinity Vasopressin V2-Receptor Gene in a Kindred with X-Linked Nephrogenic Diabetes Insipidus
- 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 Novel Mechanism in Recessive Nephrogenic Diabetes Insipidus: Wild-Type Aquaporin-2 Rescues the Apical Membrane Expression of Intracellularly Retained AQP2-P262L
- A novel splicing mutation in the V2 vasopressin receptor.
- 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 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 Causing Nephrogenic Diabetes Insipidus
- Association of Calnexin With Wild Type and Mutant AVPR2 that Cause Nephrogenic Diabetes Insipidus
- Autosomal Recessive Nephrogenic Diabetes Insipidus Caused by an Aquaporin-2 Mutation
- Biochemical Basis of Partial Nephrogenic Diabetes Insipidus Phenotypes
- Bladder Function Impairment in Aquaporin-2 Defective Nephrogenic Diabetes Insipidus
- C112R, W323S, N317K Mutations in the Vasopressin V2 Receptor Gene in Patients With 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
- 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
- Clinical Phenotype of Nephrogenic Diabetes Insipidus in Females Heterozygous for a Vasopressin Type 2 Receptor Mutation
- Constitutive Arrestin-Mediated Desensitization of a Human Vasopressin Receptor Mutant Associated with Nephrogenic Diabetes Insipidus
- Diffusion in the Endoplasmic Reticulum of an Aquaporin-2 Mutant Causing Human Nephrogenic Diabetes Insipidus
- Expression Studies of Two Vasopressin V2 Receptor Gene Mutations, R202C and 804insG, in Nephrogenic Diabetes Insipidus
- Functional Analysis of Aquaporin-2 Mutants Associated with Nephrogenic Diabetes Insipidus by Yeast Expression
- Functional Characterization of the Molecular Defects Causing Nephrogenic Diabetes Insipidus in Eight Families
- 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
- Functional Role of the NPxxY Motif in Internalization of the Type 2 Vasopressin Receptor in LLC-PK1 Cells
- Functional Studies of Twelve Mutant V2 Vasopressin Receptors Related to Nephrogenic Diabetes Insipidus: Molecular Basis of a Mild Clinical Phenotype
- Generation and Phenotype of Mice Harboring a Nonsense Mutation in the V2 Vasopressin Receptor Gene
- Genetic Restoration of Aldose Reductase to the Collecting Tubules Restores Maturation of the Urine Concentrating Mechanism
- Heterogeneous AVPR2 Gene Mutations in Congenital Nephrogenic Diabetes Insipidus
- Inheritance of Mutations in the V2 Receptor Gene in Thirteen Families with Nephrogenic Diabetes Insipidus
- Intrafamilial Phenotype Variability in Nephrogenic Diabetes Insipidus
- Mild Nephrogenic Diabetes Insipidus Caused by Foxa1 Deficiency
- Molecular Identification of the Gene Responsible for Congenital Nephrogenic Diabetes Insipidus
- Molecular and Cellular Defects in Nephrogenic Diabetes Insipidus
- Molecular and Cellular Defects in Nephrogenic Diabetes Insipidus (Knoers, Deen)
- Mutations in the Founder of the MIP Gene Family Underlie Cataract Development in the Mouse
- 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
- 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: 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: Functional Analysis of New AVPR2 Mutations Identified in Italian Families
- Novel Mutations in the V2 Vasopressin Receptor Gene in Two Pedigrees with Congenital Nephrogenic Diabetes Insipidus
- Pharmacological Chaperones: A New Twist on Receptor Folding
- Phenotypes Developed in Secretin Receptor-Null Mice Indicated a Role for Secretin in Regulating Renal Water Reabsorption
- Report of 33 Novel AVPR2 Mutations and Analysis of 117 Families with X-Linked Nephrogenic Diabetes Insipidus
- Requirement of Human Renal Water Channel Aquaporin-2 for Vasopressin-Dependent Concentration of Urine
- Ser-256 Phosphorylation Dynamics of Aquaporin 2 During Maturation From the Endoplasmic Reticulum to the Vesicular Compartment in Renal Cells
- The Effect of Eight V2 Vasopressin Receptor Mutations on Stimulation of Adenylyl Cyclase and Binding to Vasopressin
- The Property of a Novel V2 Receptor Mutant in a Patient with 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 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
- Two Novel Mutations in the Vasopressin V2 Receptor Gene in Patients with Congenital 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 Receptor Mutations Causing Nephrogenic Diabetes Insipidus
- X-Linked Nephrogenic Diabetes Insipidus Mutations in North America and the Hopewell Hypothesis
- [Hereditary Nephrogenic Diabetes Insipidus] (French)
- [Molecular biological studies on patients with nephrogenic diabetes insipidus]. (Hungarian)
- [Recent Advances in Vasopressin Receptors and Signal Transduction System] (Japanese)
Used in 7 Article bodies
Used in 7 Article bodies
- 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
- Molecular Analysis of X-Linked Nephrogenic Diabetes Insipidus
- Proposed Cause of Marked Vasopressin Resistance in a Female with an X-Linked Recessive V2 Receptor Abnormality
- Role of Aquaporin-2 Water Channels in Urinary Concentration and Dilution Defects
Used in 105 Article translations
Used in 105 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 Low-Affinity Vasopressin V2-Receptor Gene in a Kindred with X-Linked Nephrogenic Diabetes Insipidus
- 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 Novel Mechanism in Recessive Nephrogenic Diabetes Insipidus: Wild-Type Aquaporin-2 Rescues the Apical Membrane Expression of Intracellularly Retained AQP2-P262L
- A Novel Polymorphism in the Coding Region of the Vasopressin Type 2 Receptor Gene
- A Null Mutation in the Vasopressin V2 Receptor Gene (AVPR2) Associated with Nephrogenic Diabetes Insipidus in the Hopewell Kindred
- Amelioration of Polyuria in Nephrogenic Diabetes Insipidus Due to Aquaporin-2 Deficiency
- 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
- 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
- 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
- Aquaporins: From Physiology to Nephrogenic 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
- Bladder Function Impairment in Aquaporin-2 Defective Nephrogenic Diabetes Insipidus
- 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
- Characterization of Vasopressin V2 Receptor Mutants in Nephrogenic Diabetes Insipidus in a Polarized Cell Model
- 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
- 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
- Cognitive and Psychosocial Functioning of Patients with Congenital Nephrogenic Diabetes Insipidus
- Congenital Nephrogenic Diabetes Insipidus
- Defects of G Protein-Coupled Signal Transduction in Human Disease
- Desmopressin for Nocturnal Enuresis in Nephrogenic Diabetes Insipidus
- Detection of Skewed X-Inactivation in Two Female Carriers of Vasopressin Type 2 Receptor Gene Mutation
- Diabetes Insipidus (Robertson)
- Differential Diagnosis and Pathophysiology of Diabetes Insipidus
- 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 Characterization of Five V2 Vasopressin Receptor Gene Mutations
- 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 in Endocrine Disease
- GS-Activating Receptors: Modes of Transmembrane Signalling and Genetic Defects
- Genetic Renal Diseases in Children
- Genetic Restoration of Aldose Reductase to the Collecting Tubules Restores Maturation of the Urine Concentrating Mechanism
- Hereditary Vasopressin Resistance in Man and Mouse
- 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
- 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
- Inborn Errors of Signal Transduction: Mutations in G Proteins and G Protein-coupled Receptors as a Cause of Disease
- Inheritance of Mutations in the V2 Receptor Gene in Thirteen Families with Nephrogenic Diabetes Insipidus
- Intrafamilial Phenotype Variability in Nephrogenic Diabetes Insipidus
- Maturation of Receptor Proteins in Eukaryotic Expression Systems
- Mild Nephrogenic Diabetes Insipidus Caused by Foxa1 Deficiency
- Molecular Analysis of X-Linked Nephrogenic 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 and Cellular Biology of Vasopressin and Oxytocin Receptors and Action in the Kidney
- Molecular and Cellular Defects in Nephrogenic Diabetes Insipidus
- Mutational Analyses of AVPR2 Gene in Three Japanese Families with X-Linked Nephrogenic Diabetes Insipidus: Two Recurrent Mutations, R137H and V278, Caused by the Hypermutability at CpG D
- 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 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
- Nephrogenic Diabetes Insipidus Caused By Mutation of Tyr205: A Key Residue of V2 Vasopressin Receptor Function
- Nephrogenic Diabetes Insipidus: Causes Revealed
- Nephrogenic Diabetes Insipidus: Identification of the Genetic Defect
- 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
- Novel Mutations in the V2 Vasopressin Receptor Gene in Two Pedigrees with Congenital Nephrogenic Diabetes Insipidus
- 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
- Pathogenesis and Treatment of Autosomal-Dominant Nephrogenic Diabetes Insipidus Caused by an Aquaporin 2 Mutation
- 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 in Nephrogenic Diabetes Insipidus: Possibilities for Clinical Application
- Phenotypes Developed in Secretin Receptor-Null Mice Indicated a Role for Secretin in Regulating Renal Water Reabsorption
- 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
- Relief of Nocturnal Enuresis by Desmopressin is Kidney and Vasopressin Type 2 Receptor Independent
- Reversed Polarized Delivery of an Aquaporin-2 Mutant Causes Dominant Nephrogenic Diabetes Insipidus
- Role of Aquaporin-2 Water Channels in Urinary Concentration and Dilution Defects
- Sequence-Specific "Gene Signatures" can be Obtained by PCR with Single Specific Primers at Low Stringency
- Six Novel Mutations in the Vasopressin V2 Receptor Gene Causing Nephrogenic Diabetes Insipidus
- The Effect of Eight V2 Vasopressin Receptor Mutations on Stimulation of Adenylyl Cyclase and Binding to Vasopressin
- 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
- 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
- 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
- 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
- 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
- X-Linked Nephrogenic Diabetes Insipidus Mutations in North America and the Hopewell Hypothesis
Used in 6 Faq answers
Used in 6 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 can a girl have NDI? I thought only boys had it.
- How rare is it for a carrier to have two genetic mutations?
- My son's male cousin who is 3 years old was just diagnosed with Diabetes Insipidus. They are trying to find out if there is a genetic link. My son who is 21 years old now, has frequent urination, up at least 7 times throughout the night to void. He states
Used in 37 Proceeding abstracts
Used in 37 Proceeding abstracts
- Rescue of the Cell Surface Expression of Vasopressin V2 Receptor Mutants in Nephrogenic Diabetes Insipidus
- A Novel dominant mutation of the aquaporin-2 gene resulting in partial 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
- A mouse model for X-linked nephrogenic diabetes insipidus
- Amelioration of Polyuria in Nephrogenic Diabetes Insipidus due to Aquaporin-2 Deficiency
- 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
- Clinical Data and Cell Biological Aspects of Mutations in Nephrogenic Diabetes Insipidus
- Clinical Phenotype and Molecular Characterization of A Mutant V2 Receptor Associated with Partial Congenital Nephrogenic Diabetes Insipidus
- Clinical and genetic approaches to the diagnosis of congenital polyuro-polydipsic syndromes
- Complete deletions of the vasopressin type 2 receptor gene in nephrogenic diabetes insipidus
- Congenital (present a birth) severe diabetes insipidus. Most patients have nephrogenic diabetes insipidus (NDI), but some patients have autosomal recessive central (neurogenic) diabetes insipidus
- Consequences of tetramerization and expression levels of Aquaporin-2 in phenotype-genotype correlation studies in autosomal NDI
- Diversity of Nephrogenic Diabetes Insipidus Mutations and Importance of Early Recognition and Treatment
- Follow up of NDI patients and presentation of a case report
- 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.
- G15 reveals coupling of the V2 receptor to PLC that is refractory to receptor desensitization
- Gene Mutation Analysis of NDI patients in Japan
- 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
- Mono-ubiquitination and missorting to lysosomes of the Aquaporin-2 water channel mutant AQP2-E258K explains dominant Nephrogenic Diabetes Insipidus
- Mutations in the vasopressin V2 receptor and aquaporin-2 genes in twelve families with congenital 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.
- Nephrogenic Diabetes Insipidus Mutation Database
- Nephrogenic Diabetes Insipidus Patients in Japan
- Nephrogenic diabetes insipidus in Italian families
- New insights in water channel physiology revealed by transgenic mouse models
- Rediscovery of Swedish Kindred with X-linked 'Vasopressin-Responsive' Diabetes Insipidus: Validation and Explanation of the Unusual Clinical Phenotype
- Targeting of the V2 Vasopressin Receptor Gene in Mice
- The Medical Geneticist's Perspective on NDI Research
- Thirteen Large Deletions/Rearrangements of the AVPR2 Gene Causing X-linked Nephrogenic Diabetes Insipidus
- Two new Aquaporin-2 mutations responsible for Congenital Nephrogenic Diabetes Insipidus
- V2 vasopressin receptor dysfunction in patients with nephrogenic diabetes insipidus is caused by different molecular mechanisms
- V2 vasopressin receptor function studied in mice and yeast
- V2 vasopressin receptor mutants responsible for nephrogenic diabetes insipidus associate with the molecular chaperones calnexin and Hsp70
Used in 37 Proceeding translations
Used in 37 Proceeding translations
- Rescue of the Cell Surface Expression of Vasopressin V2 Receptor Mutants in Nephrogenic Diabetes Insipidus
- A Novel dominant mutation of the aquaporin-2 gene resulting in partial 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
- Amelioration of Polyuria in Nephrogenic Diabetes Insipidus due to Aquaporin-2 Deficiency
- An impaired routing of wild type aquaporin-2 after tetramerization with an aquaporin-2 mutant explains dominant nephrogenic diabetes insipidus
- Analysis of molecular mechanisms causing V2 vasopressin receptor dysfunction in four patients with X-linked 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
- Clinical Data and Cell Biological Aspects of Mutations in Nephrogenic Diabetes Insipidus
- Clinical Phenotype and Molecular Characterization of A Mutant V2 Receptor Associated with Partial Congenital Nephrogenic Diabetes Insipidus
- Congenital (present a birth) severe diabetes insipidus. Most patients have nephrogenic diabetes insipidus (NDI), but some patients have autosomal recessive central (neurogenic) 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
- Follow up of NDI patients and presentation of a case report
- Functional rescue of three vasopressin V2 receptor mutants causing nephrogenic diabetes insipidus by a second site suppressor mutation
- Functional rescue of truncated V2-Vasopressin-receptors by aminoglycoside-induced misreading of nonsense-mutations
- 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
- Generation of Germ Line Heterozygous Mice for Aquaporin-2 Conditional Knock-Out and Knock-In Models of NDI
- 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 a Palestine Sibship
- Nephrogenic diabetes insipidus in Italian families
- Prostaglandins as Stimulants of AQP2 Expression: a Possible Future Treatment for NDI?
- Rediscovery of Swedish Kindred with X-linked 'Vasopressin-Responsive' Diabetes Insipidus: Validation and Explanation of the Unusual Clinical Phenotype
- Routing and function of mutant AQP2 water channels in nephrogenic diabetes insipidus
- Structure of V2 vasopressin receptor oligomers: evidence for contact dimer formation
- Targeting of the V2 Vasopressin Receptor Gene in Mice
- The Medical Geneticist's Perspective on NDI Research
- Toward a mouse model of human non-X-linked NDI
- 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 receptor dysfunction in patients with nephrogenic diabetes insipidus is caused by different molecular mechanisms
- V2 vasopressin receptor-deficient mouse model: Pathophysiological changes and therapeutical implications
- Variations in clinical phenotype associated with different mutations of the V2 receptor gene in X-linked recessive congenital nephrogenic DI (xCNDI)
- Wild-type aquaporin-2 rescues a novel aquaporin-2 mutant in recessive Nephrogenic Diabetes Insipidus to the apical plasma membrane
Used in 22 Term definitions
Used in 22 Term definitions
- BB rats
- Brattleboro rats
- E242X
- deletion
- frame-shift mutation
- frameshift mutations
- inactivating mutations
- inherited NDI
- loss-of-function mutation
- mendelian disorder
- mutant
- mutation
- mutational
- mutations
- nonsense mutation
- novel mutation
- oligonucleotide
- point mutation
- point-mutation
- suppress
- suppressed
- suppression