Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus-update and epidemiology. (Q35452558)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26069764%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

title

Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus-update and epidemiology (English)

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17 February 2020

1

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17 February 2020

author name string

Abdulah El Tarazi

2

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17 February 2020

Jessica Matar

3

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17 February 2020

Yoann Lussier

4

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17 February 2020

Marie-Françoise Arthus

5

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17 February 2020

Michèle Lonergan

6

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17 February 2020

Detlef Bockenhauer

7

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17 February 2020

Pierre Bissonnette

8

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17 February 2020

publication date

28 March 2012

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Clinical kidney journal / an academic journal of the ERA-EDTA (European Renal Association - European Dialysis and Transplant Association)

17 February 2020

published in

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17 February 2020

volume

5

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17 February 2020

issue

3

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17 February 2020

page(s)

195-202

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Vasopressin-independent targeting of aquaporin-2 by selective E-prostanoid receptor agonists alleviates nephrogenic diabetes insipidus.

17 February 2020

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New autosomal recessive mutations in aquaporin-2 causing nephrogenic diabetes insipidus through deficient targeting display normal expression in Xenopus oocytes.

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Novel mutation of aquaporin-2 gene in a patient with congenital nephrogenic diabetes insipidus

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

27 July 2018

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Regulation of aquaporin-2 trafficking.

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Aquaporin 2 mutations in nephrogenic diabetes insipidus

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Pathogenesis and treatment of autosomal-dominant nephrogenic diabetes insipidus caused by an aquaporin 2 mutation

27 July 2018

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THE MECHANISM OF ANTIDIURESIS ASSOCIATED WITH THE ADMINISTRATION OF HYDROCHLOROTHIAZIDE TO PATIENTS WITH VASOPRESSIN-RESISTANT DIABETES INSIPIDUS

27 July 2018

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Characterization of an aquaporin-2 water channel gene mutation causing partial nephrogenic diabetes insipidus in a Mexican family: evidence of increased frequency of the mutation in the town of origin

27 July 2018

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

27 July 2018

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

27 July 2018

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Barttin increases surface expression and changes current properties of ClC-K channels

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Control of the selectivity of the aquaporin water channel family by global orientational tuning

27 July 2018

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Heteroligomerization of an Aquaporin-2 mutant with wild-type Aquaporin-2 and their misrouting to late endosomes/lysosomes explains dominant nephrogenic diabetes insipidus

27 July 2018

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Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure

27 July 2018

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Structural determinants of water permeation through aquaporin-1

27 July 2018

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27 July 2018

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An impaired routing of wild-type aquaporin-2 after tetramerization with an aquaporin-2 mutant explains dominant nephrogenic diabetes insipidus

27 July 2018

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Novel mutations in aquaporin-2 gene in female siblings with nephrogenic diabetes insipidus: evidence of disrupted water channel function

27 July 2018

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

27 July 2018

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Aquaporin-2, a vasopressin-sensitive water channel, and nephrogenic diabetes insipidus

27 July 2018

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Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus

27 July 2018

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Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response

27 July 2018

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27 July 2018

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Two novel mutations in the aquaporin-2 and the vasopressin V2 receptor genes in patients with congenital nephrogenic diabetes insipidus

27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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Familial cases of congenital nephrogenic diabetes insipidus type II: Remarkable increment of urinary adenosine 3?,5?-monophosphate in response to antidiuretic hormone

27 July 2018

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Normal response of factor VIII and von Willebrand factor to 1-deamino-8D-arginine vasopressin in nephrogenic diabetes insipidus.

27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus

27 July 2018

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Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus

27 July 2018

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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.

26 September 2018

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Identification of two novel aquaporin-2 mutations in a Thai girl with congenital nephrogenic diabetes insipidus

26 September 2018

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26 September 2018

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A case of aquaporin 2 R85X mutation in a boy with congenital nephrogenic diabetes insipidus

26 September 2018

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

26 September 2018

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Nephrogenic diabetes insipidus in mice lacking all nitric oxide synthase isoforms

26 September 2018

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A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L.

26 September 2018

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26 September 2018

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Two novel aquaporin-2 mutations responsible for congenital nephrogenic diabetes insipidus in Chinese families.

26 September 2018

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Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies.

26 September 2018

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Desmopressin for nocturnal enuresis in nephrogenic diabetes insipidus

26 September 2018

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26 September 2018

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26 September 2018

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

26 September 2018

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26 September 2018

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Importance of aquaporin-2 expression levels in genotype -phenotype studies in nephrogenic diabetes insipidus.

26 September 2018

1 reference

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26 September 2018

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Report of 33 novel AVPR2 mutations and analysis of 117 families with X-linked nephrogenic diabetes insipidus

26 September 2018

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12 December 2020

Autosomal recessive nephrogenic diabetes insipidus caused by an aquaporin-2 mutation

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Hemodynamic and coagulation responses to 1-desamino[8-D-arginine] vasopressin in patients with congenital nephrogenic diabetes insipidus

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Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes

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Characterization of Two Novel Missense Mutations in the AQP2 Gene Causing Nephrogenic Diabetes Insipidus

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12 December 2020

A variant of nephrogenic diabetes insipidus: V2 receptor abnormality restricted to the kidney

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Six novel mutations in the vasopressin V2 receptor gene causing nephrogenic diabetes insipidus

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12 December 2020

Novel mutations underlying nephrogenic diabetes insipidus in Arab families

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Epinephrine and dDAVP administration in patients with congenital nephrogenic diabetes insipidus. Evidence for a pre-cyclic AMP V2 receptor defective mechanism

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Nephrogenic diabetes insipidus, thiazide treatment and renal cell carcinoma

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Identifiers

DOI

10.1093/CKJ/SFS029

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26069764%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26069764%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26069764%20AND%20SRC:MED&resulttype=core&format=json