(Q37658608)

21 August 2017

Detection of mutations in KLHL3 and CUL3 in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome). (English)

1 reference

21 August 2017

6

1 reference

21 August 2017

Amanda Henry

3

0 references

Roddy Walsh

Roddy Walsh

5

0 references

James Ware

James S Ware

2

0 references

Ian P. Hall

Ian P Hall

10

0 references

Mark Glover

Mark Glover

1

0 references

Martin D Tobin

Martin D Tobin

9

0 references

author name string

Martin Wolley

4

1 reference

21 August 2017

Shengxin Xu

7

1 reference

21 August 2017

William G Van't Hoff

8

1 reference

21 August 2017

Stuart Cook

11

1 reference

21 August 2017

Richard D Gordon

12

1 reference

21 August 2017

Michael Stowasser

13

1 reference

21 August 2017

Kevin M O'Shaughnessy

14

1 reference

21 August 2017

language of work or name

English

0 references

publication date

1 May 2014

1 reference

21 August 2017

1 reference

21 August 2017

126

1 reference

21 August 2017

10

1 reference

21 August 2017

721-726

1 reference

Creative Commons Attribution 3.0 Unported

21 August 2017

start time

25 July 2019

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Towards clinical molecular diagnosis of inherited cardiac conditions: a comparison of bench-top genome DNA sequencers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3963521

Paralogous annotation of disease-causing variants in long QT syndrome genes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3963521

KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3963521

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3963521

Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3963521

Role of the WNK-activated SPAK kinase in regulating blood pressure

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3963521

Renal and brain isoforms of WNK3 have opposite effects on NCCT expression

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3963521

PLINK: a tool set for whole-genome association and population-based linkage analyses

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3963521

The M-Coffee web server: a meta-method for computing multiple sequence alignments by combining alternative alignment methods

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3963521

The world health report 2002 - reducing risks, promoting healthy life

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3963521

Molecular mechanisms of human hypertension

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3963521

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3963521

A new locus on chromosome 12p13.3 for pseudohypoaldosteronism type II, an autosomal dominant form of hypertension

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3963521

Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3963521

Hypertension, dietary salt intake, and the role of the thiazide-sensitive sodium chloride transporter NCCT.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3963521

Syndrome of hypertension and hyperkalemia with normal glomerular filtration rate

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3963521

The CUL3-KLHL3 E3 ligase complex mutated in Gordon's hypertension syndrome interacts with and ubiquitylates WNK isoforms: disease-causing mutations in KLHL3 and WNK4 disrupt interaction

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3963521

The activity of the thiazide-sensitive Na(+)-Cl(-) cotransporter is regulated by protein phosphatase PP4.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3963521

Genotype-phenotype analysis of a newly discovered family with Liddle's syndrome

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3963521

Hypertension and Severe Hyperkalaemia Associated with Suppression of Renin and Aldosterone and Completely Reversed by Dietary Sodium Restriction

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3963521

A new kindred with pseudohypoaldosteronism type II and a novel mutation (564D>H) in the acidic motif of the WNK4 gene

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3963521

On the bumpy road towards 'personalized medicine'.

1 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1042%2FCS20130326

Genetic heterogeneity of familial hyperkalaemic hypertension

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24266877

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The syndrome of hypertension and hyperkalemia with normal glomerular filtration rate: Gordon's syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24266877

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Multilocus linkage of familial hyperkalaemia and hypertension, pseudohypoaldosteronism type II, to chromosomes 1q31-42 and 17p11-q21

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24266877

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1042/CS20130326

1 reference

21 August 2017

1 reference

21 August 2017

PubMed publication ID

24266877

1 reference