(Q48641894)

13 February 2018

title

Homozygosity for aquaporin 7 G264V in three unrelated children with hyperglyceroluria and a mild platelet secretion defect (English)

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13 February 2018

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6

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13 February 2018

Kathleen Freson

object named as

Kathleen Freson

12

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author name string

Christophe Goubau

1

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13 February 2018

Jaak Jaeken

2

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13 February 2018

Elena N Levtchenko

3

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13 February 2018

Chantal Thys

4

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13 February 2018

Michela Di Michele

5

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13 February 2018

Erik Gerlo

7

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13 February 2018

Rita De Vos

8

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13 February 2018

Gunnar M Buyse

9

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13 February 2018

Nathalie Goemans

10

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13 February 2018

Chris Van Geet

11

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13 February 2018

language of work or name

English

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publication date

16 August 2012

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13 February 2018

published in

Genetics in Medicine

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13 February 2018

volume

15

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13 February 2018

issue

1

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13 February 2018

page(s)

55-63

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13 February 2018

From structure to disease: the evolving tale of aquaporin biology

cites work

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.90

News and views on mitochondrial water transport

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Intracellular aquaporins: clues for intracellular water transport?

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More than just water channels: unexpected cellular roles of aquaporins

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Aquaporin water channels--from atomic structure to clinical medicine

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The evolutionary aspects of aquaporin family

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Aquaporin biology and nervous system

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Structure and function of water channels.

21 January 2018

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A current view of the mammalian aquaglyceroporins.

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Aquaporins: translating bench research to human disease

21 January 2018

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Molecular cloning and expression of a novel human aquaporin from adipose tissue with glycerol permeability

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2012.90

Cloning and functional expression of a new water channel abundantly expressed in the testis permeable to water, glycerol, and urea

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2012.90

Molecular characterization of human Aquaporin-7 gene and its chromosomal mapping

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2012.90

Progressive adipocyte hypertrophy in aquaporin-7-deficient mice: adipocyte glycerol permeability as a novel regulator of fat accumulation

21 January 2018

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Aquaporin 7 deficiency is associated with development of obesity through activation of adipose glycerol kinase

21 January 2018

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Adaptation to fasting by glycerol transport through aquaporin 7 in adipose tissue

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2012.90

AQP7 is localized in capillaries of adipose tissue, cardiac and striated muscle: implications in glycerol metabolism.

21 January 2018

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Defective water and glycerol transport in the proximal tubules of AQP7 knockout mice

21 January 2018

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Human aquaporin adipose (AQPap) gene

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2012.90

Adipose tissue expression of the glycerol channel aquaporin-7 gene is altered in severe obesity but not in type 2 diabetes

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2012.90

Aquaglyceroporins serve as metabolic gateways in adiposity and insulin resistance control

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2012.90

Determination of glycerol in plasma by an automated enzymatic spectrophotometric procedure

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2012.90

Molecular cloning and characterization of the GATA1 cofactor human FOG1 and assessment of its binding to GATA1 proteins carrying D218 substitutions

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2012.90

Aquaporin 1 regulates GTP-induced rapid gating of water in secretory vesicles

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2012.90

Characterization of the proteins released from activated platelets leads to localization of novel platelet proteins in human atherosclerotic lesions

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2012.90

Pituitary Adenylate Cyclase-Activating Polypeptide (PACAP) impairs the regulation of apoptosis in megakaryocytes by activating NF-κB: a proteomic study

21 January 2018

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Body mass index reference curves for the UK, 1990

21 January 2018

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Roles of aquaporins in kidney revealed by transgenic mice

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2012.90

Dissecting the roles of aquaporins in renal pathophysiology using transgenic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.90

Structural determinants of water permeation through aquaporin-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.90

The GxxxG motif: a framework for transmembrane helix-helix association

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.90

What's new in using platelet research? To unravel thrombopathies and other human disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.90

Proteomics of the TRAP-induced platelet releasate

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.90

Water channels in platelet volume regulation

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2012.90

The water channel aquaporin-1 partitions into exosomes during reticulocyte maturation: implication for the regulation of cell volume

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2012.90

Aquaporin7 expression during perinatal development of mouse brain

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2012.90

Expression of the water channel protein aquaporin-9 in malignant brain tumors

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.90

An integrated proteomics and genomics analysis to unravel a heterogeneous platelet secretion defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.90

7 January 2021

Structural clues in the sequences of the aquaporins

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.90

7 January 2021

AQPs and control of vesicle volume in secretory cells

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.90

7 January 2021

Vesicle swelling regulates content expulsion during secretion

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.90

7 January 2021

Involvement of water channels in synaptic vesicle swelling

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https://api.crossref.org/works/10.1038%2FGIM.2012.90

7 January 2021

Identifiers

DOI

10.1038/GIM.2012.90

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13 February 2018

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13 February 2018