(Q24627187)

7

0 references

Jia Nee Foo

Jia Nee Foo

2

0 references

Brian J O'Roak

Brian J O'Roak

3

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Martin G Larson

Martin G Larson

5

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Daniel Levy

9

Daniel Levy

0 references

author name string

Weizhen Ji

1

0 references

Hongyu Zhao

4

0 references

David B Simon

6

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Matthew W State

8

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Richard P Lifton

describes a project that uses

10

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language of work or name

English

0 references

publication date

May 2008

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published in

Nature Genetics

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volume

40

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page(s)

592-9

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issue

5

0 references

Bayes' theorem

1 reference

Europe PubMed Central

18 June 2022

https://europepmc.org/article/PMC/3766631

inferred from PubMed Central ID database lookup

cites work

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

1 reference

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A common allele on chromosome 9 associated with coronary heart disease

7 April 2017

1 reference

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A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity

7 April 2017

1 reference

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Are rare variants responsible for susceptibility to complex diseases?

7 April 2017

1 reference

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Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3766631

Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3766631

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3766631

Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

7 April 2017

1 reference

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Pathophysiology of functional mutations of the thiazide-sensitive Na-Cl cotransporter in Gitelman disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3766631

Functional expression of mutations in the human NaCl cotransporter: evidence for impaired routing mechanisms in Gitelman's syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3766631

Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure

7 April 2017

1 reference

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Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes

7 April 2017

1 reference

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A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants

7 April 2017

1 reference

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Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels

7 April 2017

1 reference

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SIFT: Predicting amino acid changes that affect protein function

7 April 2017

1 reference

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Human non-synonymous SNPs: server and survey

7 April 2017

1 reference

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A common variant on chromosome 9p21 affects the risk of myocardial infarction

7 April 2017

1 reference

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Major outcomes in high-risk hypertensive patients randomized to angiotensin-converting enzyme inhibitor or calcium channel blocker vs diuretic: The Antihypertensive and Lipid-Lowering Treatment to Prevent Heart Attack Trial (ALLHAT)

7 April 2017

1 reference

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Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL.

7 April 2017

1 reference

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Genetic dissection of human blood pressure variation: common pathways from rare phenotypes.

27 September 2017

1 reference

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Applications for protein sequence-function evolution data: mRNA/protein expression analysis and coding SNP scoring tools

27 September 2017

1 reference

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In silico prediction of the deleterious effect of a mutation: proceed with caution in clinical genetics

27 September 2017

1 reference

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Inherited primary renal tubular hypokalemic alkalosis: a review of Gitelman and Bartter syndromes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3766631

The renal tubular Na-Cl co-transporter (NCCT): a potential genetic link between blood pressure and bone density?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3766631

Molecular mechanisms of human hypertension

27 September 2017

1 reference

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Evidence for a gene influencing blood pressure on chromosome 17. Genome scan linkage results for longitudinal blood pressure phenotypes in subjects from the framingham heart study

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3766631

Elevated systolic blood pressure and risk of cardiovascular and renal disease: overview of evidence from observational epidemiologic studies and randomized controlled trials

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3766631

Functional consequences of ROMK mutants linked to antenatal Bartter's syndrome and implications for treatment

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3766631

A variant of Bartter's syndrome. Bartter's syndrome associated with hydramnios, prematurity, hypercalciuria and nephrocalcinosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3766631

Bartter's syndrome. A review of 28 patients followed for 10 years

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3766631

Posttranscriptional compensation for heterozygous disruption of the kidney-specific NaK2Cl cotransporter gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3766631

Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3766631

Hemodynamic patterns of age-related changes in blood pressure. The Framingham Heart Study

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3766631

Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome.

30 May 2018

1 reference

Two novel mutations and a new STK11/LKB1 gene isoform in Peutz-Jeghers patients.

21 January 2018

1 reference

Blood Pressure and Risk of Coronary Heart Disease: The Framingham Study

21 January 2018

1 reference

Does the relation of blood pressure to coronary heart disease risk change with aging? The Framingham Heart Study.

21 January 2018

1 reference

Epidemiologic assessment of the role of blood pressure in stroke. The Framingham study

21 January 2018

1 reference

Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome

21 January 2018

1 reference

12 December 2020

Mutation and single nucleotide polymorphism detection using temperature gradient capillary electrophoresis

1 reference

12 December 2020

Involvement of histidine residues in proton sensing of ROMK1 channel

1 reference

12 December 2020

Power of selective genotyping in genetic association analyses of quantitative traits

1 reference

12 December 2020

Mutations in the Na-Cl cotransporter reduce blood pressure in humans

1 reference

12 December 2020

Effects of treatment on morbidity in hypertension. Results in patients with diastolic blood pressures averaging 115 through 129 mm Hg

1 reference

12 December 2020

Fetal polyuria and hydramnios associated with Bartter's syndrome

1 reference

12 December 2020

Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK

1 reference

12 December 2020

Identifiers

DOI

10.1038/NG.118

1 reference

Dimensions Publication ID

412031

1049828769

0 references

412031

1 reference

1 reference

1 reference