Characterization of D150E and G196D aquaporin-2 mutations responsible for nephrogenic diabetes insipidus: importance of a mild phenotype (Q33793188)

29 July 2017

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

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nephrogenic diabetes insipidus

29 July 2017

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Cécile Guyon

1

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29 July 2017

Yoann Lussier

2

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29 July 2017

Pierre Bissonnette

3

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29 July 2017

Alexandre Leduc-Nadeau

4

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29 July 2017

Michèle Lonergan

5

1 reference

29 July 2017

Marie-Françoise Arthus

6

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29 July 2017

Rafael Bedoya Perez

7

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29 July 2017

Anatoly Tiulpakov

8

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29 July 2017

Jean-Yves Lapointe

9

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29 July 2017

Daniel G Bichet

10

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29 July 2017

language of work or name

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20 May 2009

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American Journal of Physiology - Renal Physiology

29 July 2017

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29 July 2017

297

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29 July 2017

F489-98

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29 July 2017

2

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Molecular biology of hereditary diabetes insipidus.

29 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067249

Glycosylation Is Important for Cell Surface Expression of the Water Channel Aquaporin-2 but Is Not Essential for Tetramerization in the Endoplasmic Reticulum

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067249

Hypertonicity is involved in redirecting the aquaporin-2 water channel into the basolateral, instead of the apical, plasma membrane of renal epithelial cells

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067249

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067249

Local osmotic gradients drive the water flux associated with Na(+)/glucose cotransport

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067249

The use of Xenopus laevis oocytes for the functional characterization of heterologously expressed membrane proteins

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067249

Functional expression of tagged human Na+-glucose cotransporter in Xenopus laevis oocytes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067249

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067249

Physiology and pathophysiology of renal aquaporins.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067249

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067249

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067249

Defective aquaporin-2 trafficking in nephrogenic diabetes insipidus and correction by chemical chaperones

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067249

The aquaporin family of water channels in kidney

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067249

Evidence for stabilization of aquaporin-2 folding mutants by N-linked glycosylation in endoplasmic reticulum.

28 July 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPRENAL.90589.2008

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPRENAL.90589.2008

The subcellular localization of an aquaporin-2 tetramer depends on the stoichiometry of phosphorylated and nonphosphorylated monomers

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPRENAL.90589.2008

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPRENAL.90589.2008

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPRENAL.90589.2008

Aquaporins in the kidney: from molecules to medicine

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPRENAL.90589.2008

Effect on stability, degradation, expression, and targeting of aquaporin-2 water channel by hyperosmolality in renal epithelial cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPRENAL.90589.2008

Elaboration of a novel technique for purification of plasma membranes from Xenopus laevis oocytes.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067249

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067249

Water transport by the Na+/glucose cotransporter under isotonic conditions.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067249

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

30 October 2018

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12 December 2020

Defective processing and trafficking of water channels in nephrogenic diabetes insipidus

1 reference

12 December 2020

Nephrogenic diabetes insipidus

1 reference

12 December 2020

Pathophysiology of aquaporin-2 in water balance disorders

1 reference

12 December 2020

Nephrogenic diabetes insipidus

1 reference

12 December 2020

10.1152/AJPRENAL.90589.2008

Identifiers

DOI

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29 July 2017

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29 July 2017

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