Partial nephrogenic diabetes insipidus caused by a novel AQP2 variation impairing trafficking of the aquaporin-2 water channel (Q35881045)

10 August 2017

Partial nephrogenic diabetes insipidus caused by a novel AQP2 variation impairing trafficking of the aquaporin-2 water channel (English)

1 reference

nephrogenic diabetes insipidus

10 August 2017

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714855 AND SRC:MED&resulttype=core&format=json

10 June 2020

Thomas Juhl Corydon

9

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10 June 2020

author name string

Pia Dollerup

1

1 reference

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10 June 2020

Troels Møller Thomsen

2

1 reference

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10 June 2020

Mia Færch

4

1 reference

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10 June 2020

Martin Österbrand

5

1 reference

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10 June 2020

Niels Gregersen

6

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10 June 2020

Søren Rittig

7

1 reference

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10 June 2020

Jane H Christensen

8

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10 June 2020

language of work or name

1 reference

29 December 2015

1 reference

10 August 2017

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10 June 2020

volume

16

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10 June 2020

page(s)

217

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describes a project that uses

10 June 2020

ImageQuant

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4696136/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

Multigenic lentiviral vectors for combined and tissue-specific expression of miRNA- and protein-based antiangiogenic factors

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Nephrogenic diabetes insipidus: essential insights into the molecular background and potential therapies for treatment.

11 July 2018

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Familial forms of diabetes insipidus: clinical and molecular characteristics

11 July 2018

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Congenital nephrogenic diabetes insipidus: what can we learn from mouse models?

11 July 2018

1 reference

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Genomic insertion of lentiviral DNA circles directed by the yeast Flp recombinase

11 July 2018

1 reference

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The C-terminal tail of aquaporin-2 determines apical trafficking

11 July 2018

1 reference

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Down-regulation of Hsp60 expression by RNAi impairs folding of medium-chain acyl-CoA dehydrogenase wild-type and disease-associated proteins

11 July 2018

1 reference

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

11 July 2018

1 reference

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The ins and outs of aquaporin-2 trafficking

11 July 2018

1 reference

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The role of putative phosphorylation sites in the targeting and shuttling of the aquaporin-2 water channel

11 July 2018

1 reference

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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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696136

Aquaporins in the kidney: from molecules to medicine

11 July 2018

1 reference

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696136

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

11 July 2018

1 reference

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

11 July 2018

1 reference

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Rab7: a key to lysosome biogenesis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696136

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696136

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696136

Protein kinase A phosphorylation is involved in regulated exocytosis of aquaporin-2 in transfected LLC-PK1 cells

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696136

Phosphorylation of serine 256 is required for cAMP-dependent regulatory exocytosis of the aquaporin-2 water channel

11 July 2018

1 reference

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Rab9 functions in transport between late endosomes and the trans Golgi network

11 July 2018

1 reference

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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.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696136

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

24 September 2018

1 reference

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Pharmacologic chaperones as a potential treatment for X-linked nephrogenic diabetes insipidus

24 September 2018

1 reference

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696136

Bidirectional regulation of AQP2 trafficking and recycling: involvement of AQP2-S256 phosphorylation

24 September 2018

1 reference

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Reduced renal expression of AQP2, p-AQP2 and AQP3 in haemorrhagic shock-induced acute renal failure.

24 September 2018

1 reference

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Inhibition of endocytosis causes phosphorylation (S256)-independent plasma membrane accumulation of AQP2

24 September 2018

1 reference

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Aquaporin-2 localization in clathrin-coated pits: inhibition of endocytosis by dominant-negative dynamin

24 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26714855

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Direct demonstration of aquaporin-2 water channel recycling in stably transfected LLC-PK1 epithelial cells

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26714855

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S12882-015-0213-3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714855 AND SRC:MED&resulttype=core&format=json

Dimensions Publication ID

10 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714855 AND SRC:MED&resulttype=core&format=json

10 June 2020

PubMed publication ID

26714855

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714855 AND SRC:MED&resulttype=core&format=json