Molecular biology of diabetes insipidus

Annual Review of Medicine
T M FujiwaraD G Bichet

Abstract

The identification, characterization, and mutational analysis of three different genes, namely the prepro-arginine-vasopressin-neurophysin II gene (prepro-AVP-NPII), the arginine-vasopressin receptor 2 gene (AVPR2), and the vasopressin-sensitive water channel gene (aquaporin-2, AQP2), provide the basis for our understanding of three different hereditary forms of diabetes insipidus: autosomal dominant neurogenic diabetes insipidus, X-linked nephrogenic diabetes insipidus, and autosomal recessive nephrogenic diabetes insipidus, respectively. These advances provide diagnostic tools for physicians caring for these patients.

References

Dec 1, 1992·Current Opinion in Biotechnology·R R Sinden, R D Wells
May 28, 1992·Nature·M Sharif, M R Hanley
May 28, 1992·Nature·M BirnbaumerW Rosenthal
Jan 1, 1991·American Journal of Medical Genetics·J M LangleyJ T Clarke
Mar 1, 1991·European Journal of Pediatrics·N Knoers, L A Monnens
Jul 1, 1988·The Journal of Clinical Endocrinology and Metabolism·B BrennerZ Hochberg
Apr 3, 1969·The New England Journal of Medicine·H H Bode, J D Crawford
Aug 1, 1984·The Journal of Clinical Endocrinology and Metabolism·I BlazyC Sachs
Mar 1, 1994·The Journal of Clinical Investigation·S SasakiK Nakajima
Aug 1, 1994·Journal of the American Society of Nephrology : JASN·E J HoltzmanD A Ausiello
Aug 30, 1994·Proceedings of the National Academy of Sciences of the United States of America·E FriedmanL De Marco
Sep 1, 1993·The Journal of Clinical Investigation·D G BichetA Didwania
Dec 15, 1993·Biochemical and Biophysical Research Communications·H TsukaguchiM Inada
Jul 22, 1993·Annals of the New York Academy of Sciences·H SchmaleD Richter
Jan 1, 1993·Human Mutation·A L Beaudet, L C Tsui
Feb 1, 1993·Annals of Medicine·D N Cooper

❮ Previous
Next ❯

Citations

Feb 11, 2005·Journal of Molecular Histology·A MobasheriD Marples
Nov 19, 2003·Biochemical and Biophysical Research Communications·Maho OgoshiYoshio Takei
Sep 29, 2000·Biochemical Pharmacology·A PugaM Medvedovic
Nov 29, 1996·Molecular and Cellular Endocrinology·D WenkertA M Spiegel
Nov 25, 2000·Trends in Endocrinology and Metabolism : TEM·M Birnbaumer
Dec 23, 2003·Best Practice & Research. Clinical Endocrinology & Metabolism·Joseph G Verbalis
Jul 20, 1999·Kidney International·K YamauchiF Marumo
Oct 14, 2005·Biology of Reproduction·Nicolas Da SilvaSylvie Breton
Jun 29, 2000·Annual Review of Biochemistry·M BorgniaP Agre
May 29, 1998·The Journal of Clinical Investigation·B K Tamarappoo, A S Verkman
Jun 12, 2003·Sports Medicine·Richard J GodfreyGregory P Whyte
Jun 1, 1996·Kidney International·D G Bichet
Jul 24, 1998·Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology·M Graña-BarciaJ Aguilar
Dec 15, 2010·American Journal of Physiology. Cell Physiology·Grazia TammaPeter M T Deen
Jan 10, 2002·The Journal of Biological Chemistry·Udo HaslerPierre-Yves Martin
Nov 27, 1999·The Journal of Biological Chemistry·B K TamarappooA S Verkman
Jul 25, 2000·Journal of Pediatric Endocrinology & Metabolism : JPEM·D M CampbellE B Sochett
Jun 28, 2001·Physiological Reviews·J P BurbachH Gainer
Apr 20, 2007·American Journal of Physiology. Regulatory, Integrative and Comparative Physiology·R V FloydA Mobasheri
Feb 8, 2006·Annals of Internal Medicine·Jeff M SandsUNKNOWN American Physiological Society
Jan 23, 2018·Frontiers in Physiology·Devishree KrishnanR Todd Alexander
May 23, 2000·Journal of the American Society of Nephrology : JASN·Elena AlbertazziBice Chini
Apr 7, 2000·Journal of the American Society of Nephrology : JASN·Peter Agre
Nov 20, 1998·The American Journal of the Medical Sciences·P M Deen, N V Knoers

❮ Previous
Next ❯

Datasets Mentioned

BETA
M11166
Z29491

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

© 2021 Meta ULC. All rights reserved