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AVPR2 gene
Known as:
Arginine Vasopressin Receptor 2 Gene
, nephrogenic diabetes insipidus
, V2R
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This gene plays a role in the maintenance of water homeostasis in the organism.
National Institutes of Health
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Related topics
Related topics
10 relations
AVPR2 protein, human
Diabetes Insipidus
G Protein-Coupled Receptor Signaling
Ligand Binding
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AVPR2 wt Allele
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
Identification of Potential Pharmacoperones Capable of Rescuing the Functionality of Misfolded Vasopressin 2 Receptor Involved in Nephrogenic Diabetes Insipidus
Emery Smith
,
J. Janovick
,
+4 authors
T. Spicer
Journal of biomolecular screening
2016
Corpus ID: 5340613
Pharmacoperones correct the folding of otherwise misfolded protein mutants, restoring function (i.e., providing “rescue”) by…
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2011
2011
Reduced aldehyde dehydrogenase activity and arginine vasopressin receptor 2 expression in the kidneys of male TALLYHO/JngJ mice of prediabetic age
N. Nakamura
Endocrine
2011
Corpus ID: 24754419
The TALLYHO/JngJ (TH) mouse is a novel polygenic model of type 2 diabetes and exhibits obesity, hyperglycemia (males…
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2009
2009
Hsp90 inhibitor partially corrects nephrogenic diabetes insipidus in a conditional knock‐in mouse model of aquaporin‐2 mutation
Baoxue Yang
,
Dan Zhao
,
A. Verkman
The FASEB Journal
2009
Corpus ID: 45415775
Mutations in aquaporin‐2 (AQP2) that interfere with its cellular processing can produce autosomal recessive nephrogenic diabetes…
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2007
2007
Contiguous gene deletion involving L1CAM and AVPR2 causes X‐linked hydrocephalus with nephrogenic diabetes insipidus
D. Tegay
,
Andrew H. Lane
,
J. Roohi
,
E. Hatchwell
American Journal of Medical Genetics. Part A
2007
Corpus ID: 28442392
X‐linked hydrocephalus with aqueductal stenosis (HSAS) is caused by mutation or deletion of the L1 cell adhesion molecule gene…
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Review
2006
Review
2006
Hereditary polyuric disorders: new concepts and differential diagnosis.
D. Bichet
Seminars in Nephrology
2006
Corpus ID: 21257926
2004
2004
Mild Nephrogenic Diabetes Insipidus Caused by Foxa1 Deficiency*
R. Behr
,
John Brestelli
,
J. Fulmer
,
N. Miyawaki
,
T. Kleyman
,
K. Kaestner
Journal of Biological Chemistry
2004
Corpus ID: 43560331
Foxa1 is a member of the winged helix family of transcription factors and is expressed in the collecting ducts of the kidney. We…
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Highly Cited
2003
Highly Cited
2003
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…
Christopher M. Tan
,
H. Nickols
,
L. Limbird
Journal of Biological Chemistry
2003
Corpus ID: 23620051
To understand the mechanisms of G protein-coupled receptor delivery and steady state localization, we examined the trafficking…
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2002
2002
Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients
Chia-Hsiang Chen
,
Wen-yu Chen
,
+6 authors
K. Hsiao
Journal of Human Genetics
2002
Corpus ID: 21197783
AbstractCongenital nephrogenic diabetes insipidus (NDI) is, in most instances, a rare X-linked recessive renal disorder (MIM…
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Review
1998
Review
1998
Vasopressin receptor mutations causing nephrogenic diabetes insipidus.
D. Bichet
,
M. Turner
,
D. Morin
Proceedings of the Association of American…
1998
Corpus ID: 22478933
In congenital nephrogenic diabetes insipidus, the renal collecting ducts are resistant to the antidiuretic action of arginine…
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Highly Cited
1997
Highly Cited
1997
An X-linked NDI mutation reveals a requirement for cell surface V2R expression.
Heydar Sadeghi
,
Giulio Innamorati
,
Mariel Birnbaumer
Molecular Endocrinology
1997
Corpus ID: 16095500
Function and biochemical properties of the V2 vasopressin receptor (V2R) mutant R337ter, identified in patients suffering from X…
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