Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I (Q24315663)

steroid hormone receptor activity

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author name string

D S Geller

1

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J Rodriguez-Soriano

2

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A Vallo Boado

3

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S Schifter

4

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M Bayer

5

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S S Chang

6

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R P Lifton

Pseudohypoaldosteronism: mutation found, problem solved?

7

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language of work or name

English

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publication date

July 1998

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published in

Nature Genetics

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volume

19

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issue

3

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page(s)

279-81

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cites work

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

A reappraisal of aldosterone effects on the kidney: new insights provided by epithelial sodium channel cloning

1 reference

7 January 2021

Gene regulation by steroid hormones

1 reference

7 January 2021

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

7 January 2021

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

7 January 2021

Analysis of glucocorticoid and mineralocorticoid signalling by gene targeting

1 reference

7 January 2021

Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency

1 reference

7 January 2021

The natural history of salt-wasting disorders of adrenal and renal origin

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7 January 2021

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7 January 2021

PAF mediates neutrophil adhesion to thrombin or TNF-stimulated endothelial cells under shear stress

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7 January 2021

Mineralocorticoids, salt and high blood pressure

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7 January 2021

Transtubular potassium concentration gradient: a useful test to estimate renal aldosterone bio-activity in infants and children

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7 January 2021

A hereditary form of pseudohypoaldosteronism may be manifested in the course of pyelonephritis

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7 January 2021

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

1 reference

7 January 2021

Human mineralocorticoid receptor genomic structure and identification of expressed isoforms

1 reference

7 January 2021

Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel

1 reference

7 January 2021

A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity

1 reference

7 January 2021

Determinants of specificity of transactivation by the mineralocorticoid or glucocorticoid receptor

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7 January 2021

Identifiers

DOI

10.1038/966

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Consolidated OpenCitations Corpus – April 2017

Dimensions Publication ID

1048806551

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Fatcat ID

release_hjc4of4hwbayfdxiqhoimhwyxi

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/hjc4of4hwbayfdxiqhoimhwyxi

24 November 2022

mapped directly with Wikidata item

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

9662404

1 reference

Consolidated OpenCitations Corpus – April 2017