(Q35768382)

10 August 2017

title

Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome (English)

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10 August 2017

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8

Nine V A M Knoers

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10 August 2017

10

Lies H Hoefsloot

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10 August 2017

5

Rolph Pfundt

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2

Helger G Yntema

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10 August 2017

Bob Glaudemans

1

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10 August 2017

Pedro San-Cristobal

3

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10 August 2017

Jeroen Schoots

4

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10 August 2017

Erik-J Kamsteeg

6

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10 August 2017

René J Bindels

7

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10 August 2017

Joost G Hoenderop

9

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10 August 2017

publication date

19 October 2011

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European Journal of Human Genetics

10 August 2017

published in

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10 August 2017

volume

20

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10 August 2017

issue

3

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10 August 2017

page(s)

263-270

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describes a project that uses

10 August 2017

ImageJ

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11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3283182/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Spectrum of mutations in Gitelman syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283182

A novel SLC12A3 splicing mutation skipping of two exons and preliminary screening for alternative splice variants in human kidney

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283182

Functional rescue of vasopressin V2 receptor mutants in MDCK cells by pharmacochaperones: relevance to therapy of nephrogenic diabetes insipidus

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283182

The Na+:Cl- cotransporter is activated and phosphorylated at the amino-terminal domain upon intracellular chloride depletion

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283182

Affinity-defining domains in the Na-Cl cotransporter: a different location for Cl- and thiazide binding

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283182

Molecular physiology and pathophysiology of electroneutral cation-chloride cotransporters.

12 July 2018

1 reference

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Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).

12 July 2018

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

12 July 2018

1 reference

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The Seventh Report of the Joint National Committee on Prevention, Detection, Evaluation, and Treatment of High Blood Pressure<SUBTITLE>The JNC 7 Report</SUBTITLE>

12 July 2018

1 reference

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283182

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283182

Defective processing and expression of thiazide-sensitive Na-Cl cotransporter as a cause of Gitelman's syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283182

Nonsense-mediated mRNA decay in health and disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283182

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283182

Chemical chaperones correct the mutant phenotype of the delta F508 cystic fibrosis transmembrane conductance regulator protein

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283182

The molecular basis of inherited hypokalemic alkalosis: Bartter's and Gitelman's syndromes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283182

Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283182

Localization of the thiazide sensitive Na-Cl cotransporter, rTSC1 in the rat kidney

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283182

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283182

Primary structure and functional expression of a cDNA encoding the thiazide-sensitive, electroneutral sodium-chloride cotransporter

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283182

Molecular cloning, primary structure, and characterization of two members of the mammalian electroneutral sodium-(potassium)-chloride cotransporter family expressed in kidney

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283182

A new familial disorder characterized by hypokalemia and hypomagnesemia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283182

Familial hypokalaemia and hypomagnesaemia. A further family

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283182

N-Glycosylation at two sites critically alters thiazide binding and activity of the rat thiazide-sensitive Na(+):Cl(-) cotransporter.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283182

Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283182

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

25 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2011.189

A case of Gitelman's syndrome with chondrocalcinosis

21 January 2018

1 reference

12 December 2020

Gitelman's syndrome: towards genotype-phenotype correlations?

1 reference

12 December 2020

A thiazide test for the diagnosis of renal tubular hypokalemic disorders

1 reference

12 December 2020

Genetic variants of thiazide-sensitive NaCl-cotransporter in Gitelman's syndrome and primary hypertension

1 reference

12 December 2020

Hypomagnesemia and chondrocalcinosis in Bartter's and Gitelman's syndrome: review of the pathogenetic mechanisms

1 reference

12 December 2020

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

1 reference

12 December 2020

Thiazide-sensitive sodium chloride cotransport in early distal tubule

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2011.189

1 reference

10 August 2017

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10 August 2017

1 reference