Identification, characterization and rescue of a novel vasopressin-2 receptor mutation causing nephrogenic diabetes insipidus (Q39890679)

6 July 2018

title

Identification, characterization and rescue of a novel vasopressin-2 receptor mutation causing nephrogenic diabetes insipidus (English)

1 reference

6 July 2018

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7

Christian Vaisse

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author name string

Sayali A Ranadive

1

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6 July 2018

Baran Ersoy

2

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6 July 2018

Helene Favre

3

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6 July 2018

Clement C Cheung

4

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6 July 2018

Stephen M Rosenthal

5

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6 July 2018

Walter L Miller

6

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6 July 2018

publication date

18 December 2008

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6 July 2018

published in

Clinical Endocrinology

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6 July 2018

volume

71

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6 July 2018

page(s)

388-393

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6 July 2018

issue

3

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6 July 2018

AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881569

The diagnosis of children with central diabetes insipidus

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881569

Improved monomeric red, orange and yellow fluorescent proteins derived from Discosoma sp. red fluorescent protein

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881569

Pharmacological chaperone action on G-protein-coupled receptors.

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881569

Serial MR intensity changes of the posterior pituitary in patients with diabetes insipidus after transsphenoidal surgery for pituitary adenomas: report of two cases

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881569

Pharmacological chaperones: potential treatment for conformational diseases.

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881569

Functional rescue of the constitutively internalized V2 vasopressin receptor mutant R137H by the pharmacological chaperone action of SR49059.

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881569

Nonpeptide vasopressin receptor antagonists: development of selective and orally active V1a, V2 and V1b receptor ligands

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881569

Utility of magnetic resonance imaging in the evaluation of the child with central diabetes insipidus

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881569

Molecular and cellular defects in nephrogenic diabetes insipidus

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881569

Heterologous inhibition of G protein-coupled receptor endocytosis mediated by receptor-specific trafficking of beta-arrestins

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881569

High signal intensity of the posterior pituitary gland on T1-weighted MR images. Correlation with plasma vasopressin concentration to water deprivation

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881569

Binding properties of a selective tritiated vasopressin V2 receptor antagonist, [H]-SR 121463.

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881569

Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881569

Pharmacological chaperones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881569

Posterior lobe of the pituitary gland: correlation between signal intensity on T1-weighted MR images and vasopressin concentration

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881569

Persistent high MR signal of the posterior pituitary gland in central diabetes insipidus

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881569

Idiopathic hypothalamic diabetes insipidus, pituitary stalk thickening, and the occult intracranial germinoma in children and adolescents

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881569

Characterization of SR 121463A, a highly potent and selective, orally active vasopressin V2 receptor antagonist

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881569

Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881569

Posterior pituitary gland: appearance on MR images in normal and pathologic states

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881569

Frequency and variation of the posterior pituitary bright signal on MR images

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881569

Use of T1-weighted MR imaging to differentiate between primary polydipsia and central diabetes insipidus

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881569

Pharmacologic chaperones as a potential treatment for X-linked nephrogenic diabetes insipidus

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881569

Nephrogenic syndrome of inappropriate antidiuresis

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881569

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881569

Hyperintensity of posterior pituitary on MR T1WI in a boy with central diabetes insipidus caused by missense mutation of neurophysin II gene

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881569

Thickened pituitary stalk on magnetic resonance imaging in children with central diabetes insipidus.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881569

Posterior lobe of the pituitary in diabetes insipidus: dynamic MR imaging.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881569

Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families

20 August 2018

1 reference

12 December 2020

Functional characterization of five V2 vasopressin receptor gene mutations

1 reference

12 December 2020

1 reference

12 December 2020

Molecular genetics of familial central diabetes insipidus

1 reference

12 December 2020

[Magnetic resonance imaging in central diabetes insipidus in children and adolescents. findings at diagnosis and during follow-up]

1 reference

12 December 2020

Posterior lobe of the pituitary in diabetes insipidus: MR findings

1 reference

12 December 2020

MR imaging of the posterior hypophysis in children

1 reference

12 December 2020

Central Diabetes Insipidus in Children and Young Adults

1 reference

12 December 2020

10.1111/J.1365-2265.2008.03513.X

Identifiers

DOI

1 reference

6 July 2018

release_icr2taok6fghnpdxdthpwqcziy

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/icr2taok6fghnpdxdthpwqcziy

24 November 2022

mapped directly with Wikidata item

PMCID

5881569

1 reference

6 July 2018

PubMed ID

19170711

1 reference

6 July 2018