Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study (Q50447371)

14 March 2018

title

Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study (English)

1 reference

14 March 2018

Victor Manuel García Nieto

author

Victor Manuel García Nieto

14

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Alvaro Madrid

Alvaro Madrid

Guiomar Perez de Nanclares

6

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Gustavo Pérez de Nanclares

2

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Luis Castaño

Luis Castaño

20

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Leire Madariaga

Leire Madariaga

3

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ORCID Public Data File 2021

author name string

Alejandro García Castaño

1

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14 March 2018

Mireia Aguirre

4

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14 March 2018

Sara Chocron

5

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14 March 2018

Francisco Javier Lafita Tejedor

7

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14 March 2018

Mercedes Gil Campos

8

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14 March 2018

Jaime Sánchez Del Pozo

9

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14 March 2018

Rafael Ruiz Cano

10

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14 March 2018

Mar Espino

11

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14 March 2018

Jose Maria Gomez Vida

12

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14 March 2018

Fernando Santos

13

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14 March 2018

Reyner Loza

15

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14 March 2018

Luis Miguel Rodríguez

16

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14 March 2018

Emilia Hidalgo Barquero

17

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14 March 2018

Nikoleta Printza

18

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14 March 2018

Juan Antonio Camacho

19

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14 March 2018

Gema Ariceta

21

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14 March 2018

RenalTube Group

22

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14 March 2018

publication date

23 April 2015

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14 March 2018

European Journal of Pediatrics

published in

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14 March 2018

volume

174

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14 March 2018

issue

10

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14 March 2018

page(s)

1373-1385

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14 March 2018

Characterization of three vasopressin receptor 2 variants: an apparent polymorphism (V266A) and two loss-of-function mutations (R181C and M311V)

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1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2534-4

V2R mutations and nephrogenic diabetes insipidus.

21 January 2018

1 reference

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Molecular cloning of the receptor for human antidiuretic hormone

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2534-4

Novel vasopressin type 2 (AVPR2) gene mutations in Brazilian nephrogenic diabetes insipidus patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2534-4

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2534-4

Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2534-4

Mutations in the AVPR2, AVP-NPII, and AQP2 genes in Turkish patients with diabetes insipidus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2534-4

Skewed X-chromosome inactivation causing diagnostic misinterpretation in congenital nephrogenic diabetes insipidus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2534-4

Cloning and expression of apical membrane water channel of rat kidney collecting tubule

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2534-4

The structure of aquaporins

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2534-4

Localization of the gene for X-linked nephrogenic diabetes insipidus to Xq28.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2534-4

A novel deletion mutation in the arginine vasopressin receptor 2 gene and skewed X chromosome inactivation in a female patient with congenital nephrogenic diabetes insipidus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2534-4

Three-point linkage analysis using multiple DNA polymorphic markers in families with X-linked nephrogenic diabetes insipidus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2534-4

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2534-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2534-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2534-4

Physiology of the vasopressin receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2534-4

Nephrogenic diabetes insipidus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2534-4

The binding site of neuropeptide vasopressin V1a receptor. Evidence for a major localization within transmembrane regions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2534-4

Vasopressin increases water permeability of kidney collecting duct by inducing translocation of aquaporin-CD water channels to plasma membrane

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2534-4

Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2534-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2534-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2534-4

Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2534-4

Nephrogenic Diabetes Insipidus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2534-4

Cloning, characterization, and chromosomal mapping of human aquaporin of collecting duct

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2534-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2534-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2534-4

V2 vasopressin receptor (V2R) mutations in partial nephrogenic diabetes insipidus highlight protean agonism of V2R antagonists

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2534-4

Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2534-4

Disorders of body water homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2534-4

Clinical utility of direct mutation testing for congenital nephrogenic diabetes insipidus in families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2534-4

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

21 January 2018

1 reference

12 December 2020

Nephrogenic diabetes insipidus: close linkage with markers from the distal long arm of the human X chromosome

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Diabetes insipidus: diagnosis and treatment of a complex disease.

1 reference

12 December 2020

Novel AQP2 mutation causing congenital nephrogenic diabetes insipidus: challenges in management during infancy

1 reference

12 December 2020

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

1 reference

12 December 2020

Functional characterization of five V2 vasopressin receptor gene mutations

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

X-linked recessive nephrogenic diabetes insipidus: a clinico-genetic study.

1 reference

12 December 2020

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

1 reference

12 December 2020

Novel mutations underlying nephrogenic diabetes insipidus in Arab families

1 reference

12 December 2020

Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus

1 reference

12 December 2020

Structure and chromosomal localization of the human antidiuretic hormone receptor gene

1 reference

12 December 2020

Detection of skewed X-inactivation in two female carriers of vasopressin type 2 receptor gene mutation.

1 reference

12 December 2020

Nephrogenic diabetes insipidus: functional analysis of new AVPR2 mutations identified in Italian families

1 reference

12 December 2020

Hereditary nephrogenic diabetes insipidus in Japanese patients: analysis of 78 families and report of 22 new mutations in AVPR2 and AQP2

1 reference

12 December 2020

10.1007/S00431-015-2534-4

Identifiers

DOI

1 reference

14 March 2018

1 reference

14 March 2018