Familial forms of diabetes insipidus: clinical and molecular characteristics (Q37897472)

25 August 2017

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title

Familial forms of diabetes insipidus: clinical and molecular characteristics (English)

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25 August 2017

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Muriel Babey

1

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25 August 2017

Peter Kopp

series ordinal

2

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25 August 2017

Gary L Robertson

series ordinal

3

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25 August 2017

publication date

5 July 2011

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Nature Reviews Endocrinology

25 August 2017

published in

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25 August 2017

volume

7

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25 August 2017

issue

12

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25 August 2017

page(s)

701-714

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Antidiuretic hormone. Normal and disordered function

25 August 2017

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Progressive decline of vasopressin secretion in familial autosomal dominant neurohypophyseal diabetes insipidus presenting a novel mutation in the vasopressin‐neurophysin II gene

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Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant weakly active vasopressin

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Autosomal recessive familial neurohypophyseal diabetes insipidus: onset in early infancy

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Wolfram (DIDMOAD) syndrome.

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The Vasopressin Precursor Is Not Processed in the Hypothalamus of Wolfram Syndrome Patients with Diabetes Insipidus: Evidence for the Involvement of PC2 and 7B2

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Nephrogenic diabetes insipidus

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Correlation between clinical phenotypes and X-inactivation patterns in six female carriers with heterozygote vasopressin type 2 receptor gene mutations

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Cloning and characterization of a vasopressin V2 receptor and possible link to nephrogenic diabetes insipidus

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

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Cell biological aspects of the vasopressin type-2 receptor and aquaporin 2 water channel in nephrogenic diabetes insipidus

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Vasopressin Type 2 Receptor V88M Mutation: Molecular Basis of Partial and Complete Nephrogenic Diabetes Insipidus

21 January 2018

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Functional characterization of vasopressin type 2 receptor substitutions (R137H/C/L) leading to nephrogenic diabetes insipidus and nephrogenic syndrome of inappropriate antidiuresis: implications for treatments

21 January 2018

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Nephrogenic syndrome of inappropriate antidiuresis

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Nephrogenic syndrome of inappropriate antidiuresis: a novel disorder in water balance in pediatric patients

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Efficacy of COX-2 inhibitors in a case of congenital nephrogenic diabetes insipidus

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Treatment of congenital nephrogenic diabetes insipidus by hydrochlorothiazide and cyclooxygenase-2 inhibitor

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A family case of nephrogenic diabetes insipidus

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

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Biased agonist pharmacochaperones of the AVP V2 receptor may treat congenital nephrogenic diabetes insipidus

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Intracellular activation of vasopressin V2 receptor mutants in nephrogenic diabetes insipidus by nonpeptide agonists

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Rescue of a nephrogenic diabetes insipidus-causing vasopressin V2 receptor mutant by cell-penetrating peptides

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Bypassing vasopressin receptor signaling pathways in nephrogenic diabetes insipidus

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Identification and Characterization of Aquaporin-2 Water Channel Mutations Causing Nephrogenic Diabetes Insipidus with Partial Vasopressin Response

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Characterization of D150E and G196D aquaporin-2 mutations responsible for nephrogenic diabetes insipidus: importance of a mild phenotype

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Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus

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Lack of arginine vasopressin-induced phosphorylation of aquaporin-2 mutant AQP2-R254L explains dominant nephrogenic diabetes insipidus

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p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation.

21 January 2018

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Clinical characteristics of eight patients with congenital nephrogenic diabetes insipidus

21 January 2018

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Partial nephrogenic diabetes insipidus caused by a novel mutation in the AVPR2 gene.

21 January 2018

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Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus.

21 January 2018

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Three families with autosomal dominant nephrogenic diabetes insipidus caused by aquaporin-2 mutations in the C-terminus.

21 January 2018

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An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2011.100

A murine model of autosomal dominant neurohypophyseal diabetes insipidus reveals progressive loss of vasopressin-producing neurons

21 January 2018

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Chlorothiazid in Diabetes Insipidus

21 January 2018

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21 January 2018

Nausea and vasopressin

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Myosin isoform expression and force generation in cultured resistance arteries

31 March 2020

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Decreased expression of AQP2 and AQP4 water channels and Na,K-ATPase in kidney collecting duct in AQP3 null mice

31 March 2020

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Micropuncture study of the mammalian urinary concentrating mechanism: evidence for the countercurrent hypothesis

31 March 2020

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31 March 2020

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DDAVP in the Treatment of Central Diabetes Insipidus

31 March 2020

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Gestational diabetes insipidus: a review of an underdiagnosed condition.

31 March 2020

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Hereditary diabetes insipidus: report of 20 cases in seven generations

31 March 2020

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Familial neurohypophyseal diabetes insipidus associated with a signal peptide mutation

31 March 2020

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The vasopressin precursor is not processed in the hypothalamus of Wolfram syndrome patients with diabetes insipidus: evidence for the involvement of PC2 and 7B2.

31 March 2020

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Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome

31 March 2020

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Biochemical Basis of Partial Nephrogenic Diabetes Insipidus Phenotypes

31 March 2020

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Amelioration of polyuria in nephrogenic diabetes insipidus due to aquaporin-2 deficiency

31 March 2020

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Effect of hydrochlorothiazide and indomethacin treatment on renal function in nephrogenic diabetes insipidus

31 March 2020

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Clinical presentation and follow-up of 30 patients with congenital nephrogenic diabetes insipidus

31 March 2020

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12 December 2020

Dipsogenic diabetes insipidus: a newly recognized syndrome caused by a selective defect in the osmoregulation of thirst.

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Functional studies of twelve mutant V2 vasopressin receptors related to nephrogenic diabetes insipidus: molecular basis of a mild clinical phenotype.

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12 December 2020

New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels

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12 December 2020

Immunolocalization and effect of dehydration on AQP3, a basolateral water channel of kidney collecting ducts

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12 December 2020

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12 December 2020

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12 December 2020

Vasopressin secretion in the DIDMOAD (Wolfram) syndrome

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12 December 2020

Osmoregulation and control of vasopressin secretion in healthy humans

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12 December 2020

Identification of 13 new mutations in the vasopressin-neurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus

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12 December 2020

HEREDITARY DIABETES INSIPIDUS

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12 December 2020

Identifiers

DOI

10.1038/NRENDO.2011.100

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25 August 2017

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