families
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:
- families
-
See definitions under "family."
Used in 53 Article abstracts
Used in 53 Article abstracts
- A Novel Mechanism in Recessive Nephrogenic Diabetes Insipidus: Wild-Type Aquaporin-2 Rescues the Apical Membrane Expression of Intracellularly Retained AQP2-P262L
- 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
- 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
- Cerebral Defects and Nephrogenic Diabetes Insipidus with the ARC Syndrome: Additional Findings or a New Syndrome (ARCC-NDI)?
- 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
- Congenital Nephrogenic Diabetes Insipidus
- Desmopressin for Nocturnal Enuresis in Nephrogenic Diabetes Insipidus
- Diversity of Nephrogenic Diabetes Insipidus Mutations and Importance of Early Recognition and Treatment
- Familial Nephrogenic Diabetes Insipidus: Report of Two Families
- G-Protein-Coupled Receptors: Molecular Mechanisms Involved in Receptor Activation and Selectivity of G-Protein Recognition
- Genetics of Vasopressin Receptors
- Heterogeneous AVPR2 Gene Mutations in Congenital Nephrogenic Diabetes Insipidus
- Identification of Mutations in the Arginine Vasopressin Receptor 2 Gene Causing Nephrogenic Diabetes Insipidus in Chinese Patients
- Inheritance of Mutations in the V2 Receptor Gene in Thirteen Families with Nephrogenic Diabetes Insipidus
- Linkage of X-linked Nephrogenic Diabetes Insipidus with DXS52, a Polymorphic DNA Marker
- Molecular Analyses of the Vasopressin Type 2 Receptor and Aquaporin-2 Genes in Brazilian Kindreds with Nephrogenic Diabetes Insipidus
- Molecular Mechanisms of Urea Transport
- Molecular and Cellular Biology of Vasopressin and Oxytocin Receptors and Action in the Kidney
- 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 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: An X Chromosome-Linked Dominant Inheritance Pattern with a Vasopressin Type 2 Receptor Gene that is Structurally Normal
- Nephrogenic Diabetes Insipidus: Close Linkage with Markers from the Distal Long Arm of the Human X Chromosome
- Nephrogenic Diabetes Insipidus: Functional Analysis of New AVPR2 Mutations Identified in Italian Families
- Nephrogenic diabetes insipidus.
- Novel Vasopressin Type 2 (AVPR2) Gene Mutations in Brazilian Nephrogenic Diabetes Insipidus Patients
- Report of 33 Novel AVPR2 Mutations and Analysis of 117 Families with X-Linked Nephrogenic Diabetes Insipidus
- 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
- Three Families with Autosomal Dominant Nephrogenic Diabetes Insipidus Caused by Aquaporin-2 Mutations in the C-terminus
- 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 Responsible for Congenital Nephrogenic Diabetes Insipidus in Chinese Families
- Two Novel Mutations in the Vasopressin V2 Receptor Gene 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
- Two Vasopressin Type 2 Receptor Gene Mutations R143P and Delta V278 in Patients with Nephrogenic Diabetes Insipidus Impair Ligand Binding of the Receptor
- V2R Structure and Diabetes Insipidus
- Vasopressin Receptor Mutations Causing Nephrogenic Diabetes Insipidus
- Vasopressin Receptor Mutations and Nephrogenic Diabetes Insipidus
- Vasopressin Receptors in Health and Disease
- Vasopressin V2 Receptor Mutants that Cause X-linked Nephrogenic Diabetes Insipidus: Analysis of Expression, Processing, and Function
- X-Linked Nephrogenic Diabetes Insipidus Mutations in North America and the Hopewell Hypothesis
- X-linked Nephrogenic Diabetes Insipidus: from the Ship Hopewell to RFLP Studies
- [Congenital Nephrogenic Diabetes Insipidus] (French)
- [Hereditary Nephrogenic Diabetes Insipidus] (French)
- [Nephrogenic Diabetes Insipidus] (Japanese)
- [Pathological Aspects of Water Transport in the Collecting Ducts] (French)
Used in 8 Article bodies
Used in 8 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
- 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
- Nephrogenic Diabetes Insipidus in North America. The Hopewell Hypothesis
- 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 45 Article translations
Used in 45 Article translations
- A Novel Mechanism in Recessive Nephrogenic Diabetes Insipidus: Wild-Type Aquaporin-2 Rescues the Apical Membrane Expression of Intracellularly Retained AQP2-P262L
- 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
- 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
- Cerebral Defects and Nephrogenic Diabetes Insipidus with the ARC Syndrome: Additional Findings or a New Syndrome (ARCC-NDI)?
- Clinical Phenotype of Nephrogenic Diabetes Insipidus in Females Heterozygous for a Vasopressin Type 2 Receptor Mutation
- Cloning and Characterization of a Vasopressin V2 Receptor and Possible Link to Nephrogenic Diabetes Insipidus
- Congenital Nephrogenic Diabetes Insipidus
- Familial Nephrogenic Diabetes Insipidus: Report of Two Families
- G-Protein-Coupled Receptors in Endocrine Disease
- GS-Activating Receptors: Modes of Transmembrane Signalling and Genetic Defects
- Hereditary Vasopressin Resistance in Man and Mouse
- Heterogeneous AVPR2 Gene Mutations in Congenital Nephrogenic Diabetes Insipidus
- Inheritance of Mutations in the V2 Receptor Gene in Thirteen Families with Nephrogenic Diabetes Insipidus
- Linkage of X-linked Nephrogenic Diabetes Insipidus with DXS52, a Polymorphic DNA Marker
- 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 Biology of Diabetes Insipidus
- Molecular and Cellular Biology of Vasopressin and Oxytocin Receptors and Action in the Kidney
- 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 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 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 (Bichet)
- Nephrogenic Diabetes Insipidus: An X Chromosome-Linked Dominant Inheritance Pattern with a Vasopressin Type 2 Receptor Gene that is Structurally Normal
- Nephrogenic Diabetes Insipidus: Close Linkage with Markers from the Distal Long Arm of the Human X Chromosome
- Novel Mutations in the V2 Vasopressin Receptor Gene in Two Pedigrees with Congenital Nephrogenic Diabetes Insipidus
- Novel Vasopressin Type 2 (AVPR2) Gene Mutations in Brazilian Nephrogenic Diabetes Insipidus Patients
- 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
- Six Novel Mutations in the Vasopressin V2 Receptor Gene Causing 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 Aquaporin-2 Mutations Responsible for Congenital Nephrogenic Diabetes Insipidus in Chinese Families
- 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
- Vasopressin Receptors in Health and Disease
- Vasopressin V2 Receptor Mutants that Cause X-linked Nephrogenic Diabetes Insipidus: Analysis of Expression, Processing, and Function
- X-Linked Nephrogenic Diabetes Insipidus Mutations in North America and the Hopewell Hypothesis
- X-linked Nephrogenic Diabetes Insipidus: from the Ship Hopewell to RFLP Studies
Used in 7 Faq answers
Used in 7 Faq answers
- How can I contact other people who are dealing with NDI?
- 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 I help other families with NDI?
- How do other NDI patients/families manage bedwetting and daytime frequent urination?
- Is there any way I can contribute to the search for treatment and a cure for NDI?
- What can I do to help support research for better treatment and a cure for NDI?
- What is the life expectancy of an NDI child?
Used in 24 Proceeding abstracts
Used in 24 Proceeding abstracts
- Bartter syndrome with sensorineural deafness: molecular genetics
- Cell biological and functional analysis of five new Aquaporin-2 gene missense mutations in recessive Nephrogenic Diabetes Insipidus
- Clinical and genetic approaches to the diagnosis of congenital polyuro-polydipsic syndromes
- Collecting Duct Specific Gene Regulation: Creation And Use of Transgenic Mouse Models
- 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
- Decrease in urine volume and increase in urine osmolality after SR49059 administration in five adult male patients with X-linked nephrogenic diabetes insipidus
- Diversity of Nephrogenic Diabetes Insipidus Mutations and Importance of Early Recognition and Treatment
- Gene Mutation Analysis of NDI patients in Japan
- 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 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.
- 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
- 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
- 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
- Wild-type aquaporin-2 rescues a novel aquaporin-2 mutant in recessive Nephrogenic Diabetes Insipidus to the apical plasma membrane
Used in 18 Proceeding translations
Used in 18 Proceeding translations
- Bartter syndrome with sensorineural deafness: molecular genetics
- Clinical and genetic approaches to the diagnosis of congenital polyuro-polydipsic syndromes
- Collecting Duct Specific Gene Regulation: Creation And Use of Transgenic Mouse Models
- 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
- Diversity of Nephrogenic Diabetes Insipidus Mutations and Importance of Early Recognition and Treatment
- Gene Mutation Analysis of NDI patients in Japan
- Lack of AVP-induced phosphorylation of the Aquaporin-2 mutants AQP2-R254L and AQP2-R254Q explains dominant Nephrogenic Diabetes Insipidus
- 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 Italian families
- 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
- 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
- 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



