(Q44120931)

30 November 2017

title

Systemic pseudohypoaldosteronism from deletion of the promoter region of the human Beta epithelial na(+) channel subunit (English)

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30 November 2017

Christie P Thomas

1

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30 November 2017

Jackie Zhou

2

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30 November 2017

Kang Z Liu

3

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30 November 2017

Verity E Mick

4

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30 November 2017

Eithne MacLaughlin

5

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30 November 2017

Michael Knowles

6

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30 November 2017

publication date

1 September 2002

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American Journal of Respiratory Cell and Molecular Biology

30 November 2017

published in

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30 November 2017

volume

27

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30 November 2017

issue

3

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30 November 2017

page(s)

314-319

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Pseudohypoaldosteronism. Clinical, biochemical and morphological studies in a long-term follow-up.

30 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1165%2FRCMB.2002-0029OC

Pseudohypoaldosteronism: Multiple Target Organ Unresponsiveness to Mineralocorticoid Hormones*

21 January 2018

1 reference

https://api.crossref.org/works/10.1165%2FRCMB.2002-0029OC

Mineralocorticoid action.

21 January 2018

1 reference

https://api.crossref.org/works/10.1165%2FRCMB.2002-0029OC

Sodium channels in alveolar epithelial cells: molecular characterization, biophysical properties, and physiological significance

21 January 2018

1 reference

https://api.crossref.org/works/10.1165%2FRCMB.2002-0029OC

Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1165%2FRCMB.2002-0029OC

Pulmonary epithelial sodium-channel dysfunction and excess airway liquid in pseudohypoaldosteronism

21 January 2018

1 reference

https://api.crossref.org/works/10.1165%2FRCMB.2002-0029OC

Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1165%2FRCMB.2002-0029OC

Compound heterozygous mutations in the gamma subunit gene of ENaC (1627delG and 1570-1G-->A) in one sporadic Japanese patient with a systemic form of pseudohypoaldosteronism type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1165%2FRCMB.2002-0029OC

Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1165%2FRCMB.2002-0029OC

Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I

21 January 2018

1 reference

https://api.crossref.org/works/10.1165%2FRCMB.2002-0029OC

Genomic organization and the 5' flanking region of the gamma subunit of the human amiloride-sensitive epithelial sodium channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1165%2FRCMB.2002-0029OC

The alpha-subunit of the epithelial sodium channel is an aldosterone-induced transcript in mammalian collecting ducts, and this transcriptional response is mediated via distinct cis-elements in the 5'-flanking region of the gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1165%2FRCMB.2002-0029OC

Genomic organization of the 5' end of human beta-ENaC and preliminary characterization of its promoter

21 January 2018

1 reference

https://api.crossref.org/works/10.1165%2FRCMB.2002-0029OC

A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families

21 January 2018

1 reference

https://api.crossref.org/works/10.1165%2FRCMB.2002-0029OC

In vivo nasal potential difference: techniques and protocols for assessing efficacy of gene transfer in cystic fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1165%2FRCMB.2002-0029OC

Human hypertension caused by mutations in WNK kinases

21 January 2018

1 reference

https://api.crossref.org/works/10.1165%2FRCMB.2002-0029OC

Aldosterone metabolism and transepithelial potential difference in normal and cystic fibrosis subjects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1165%2FRCMB.2002-0029OC

Repeats in genomic DNA: mining and meaning

21 January 2018

1 reference

https://api.crossref.org/works/10.1165%2FRCMB.2002-0029OC

Polymorphisms of Amiloride-Sensitive Sodium Channel Subunits in Five Sporadic Cases of Pseudohypoaldosteronism: Do They Have Pathologic Potential?

21 January 2018

1 reference

https://api.crossref.org/works/10.1165%2FRCMB.2002-0029OC

21 January 2018

Identifiers

DOI

10.1165/RCMB.2002-0029OC

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30 November 2017

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