A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L. (Q48809146)

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scientific article published on 27 October 2004

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English	A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L.	scientific article published on 27 October 2004

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/15509592

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

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/15509592

1 reference

GOA release 2020-03-11

nephrogenic diabetes insipidus

1 reference

based on heuristic

inferred from title

author name string

Fabrizio de Mattia

1

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/15509592

Paul J M Savelkoul

2

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/15509592

Daniel G Bichet

3

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/15509592

Erik-Jan Kamsteeg

4

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/15509592

Irene B M Konings

5

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/15509592

Nannette Marr

6

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/15509592

Marie-Françoise Arthus

7

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/15509592

Michèle Lonergan

8

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/15509592

Carel H van Os

9

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/15509592

Peter van der Sluijs

10

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/15509592

Gary Robertson

11

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/15509592

Peter M T Deen

12

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/15509592

publication date

27 October 2004

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/15509592

Human Molecular Genetics

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/15509592

13

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/15509592

24

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/15509592

3045-3056

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/15509592

Physiology and pathophysiology of the aquaporin-2 water channel

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH339

21 January 2018

Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH339

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH339

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH339

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH339

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH339

21 January 2018

Water channels encoded by mutant aquaporin-2 genes in nephrogenic diabetes insipidus are impaired in their cellular routing

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH339

21 January 2018

Structural determinants of water permeation through aquaporin-1

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH339

21 January 2018

Structural basis of water-specific transport through the AQP1 water channel

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH339

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH339

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH339

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH339

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH339

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH339

21 January 2018

The proteasome is involved in the degradation of different aquaporin-2 mutants causing nephrogenic diabetes insipidus

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH339

21 January 2018

Degradation of CFTR by the ubiquitin-proteasome pathway

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH339

21 January 2018

Proteasome-dependent endoplasmic reticulum-associated protein degradation: an unconventional route to a familiar fate

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH339

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH339

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH339

21 January 2018

Functional impairment of lens aquaporin in two families with dominantly inherited cataracts

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH339

21 January 2018

Antidiuretic hormone. Normal and disordered function

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH339

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH339

21 January 2018

Twenty-one polymorphic markers from human chromosome 12 for integration of genetic and physical maps

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH339

21 January 2018

Detection of aquaporin-2 in the plasma membranes of oocytes: a novel isolation method with improved yield and purity

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH339

21 January 2018

The zyxin-related protein TRIP6 interacts with PDZ motifs in the adaptor protein RIL and the protein tyrosine phosphatase PTP-BL

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH339

21 January 2018

Interphase nuclei of many mammalian cell types contain deep, dynamic, tubular membrane-bound invaginations of the nuclear envelope

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH339

21 January 2018

Identifiers

10.1093/HMG/DDH339

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/15509592

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/15509592

ResearchGate publication ID

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