(Q48624376)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23703872%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

title

Novel CLCNKB mutations causing Bartter syndrome affect channel surface expression (English)

1 reference

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1 March 2020

2

1 reference

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1 March 2020

Stéphane Lourdel

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23703872%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Jacques Teulon

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23703872%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Mathilde Keck

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23703872%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Olivier Lahuna

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23703872%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Anne Blanchard

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23703872%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

author name string

Johanna Burgos

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23703872%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

L Pablo Cid

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23703872%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Francisco V Sepúlveda

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23703872%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Sébastien L'hoste

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23703872%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Rosa Vargas-Poussou

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23703872%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

publication date

12 June 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23703872%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

1 reference

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1 March 2020

volume

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23703872%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

issue

9

1 reference

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1 March 2020

page(s)

1269-1278

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23703872%20AND%20SRC:MED&resulttype=core&format=json

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

1 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22361

Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22361

Loss-of-function DNA sequence variant in the CLCNKA chloride channel implicates the cardio-renal axis in interindividual heart failure risk variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22361

Involvement of helices at the dimer interface in ClC-1 common gating

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22361

Gating the selectivity filter in ClC chloride channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22361

Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22361

Physiology and pathophysiology of ClC-K/barttin channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22361

Barttin activates ClC-K channel function by modulating gating

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22361

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22361

A regulatory calcium-binding site at the subunit interface of CLC-K kidney chloride channels.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22361

Molecular Pharmacology of Kidney and Inner Ear CLC-K Chloride Channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22361

Novel CLCN5 mutations in patients with Dent's disease result in altered ion currents or impaired exchanger processing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22361

Molecular mechanisms of Bartter syndrome caused by mutations in the BSND gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22361

Inwardly rectifying potassium channels: their structure, function, and physiological roles

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22361

Disease-causing dysfunctions of barttin in Bartter syndrome type IV

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22361

Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22361

Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22361

ClC-5 mutations associated with Dent's disease: a major role of the dimer interface.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22361

Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22361

Cl- absorption across the thick ascending limb is not altered in cystic fibrosis mice. A role for a pseudo-CFTR Cl- channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22361

Overt nephrogenic diabetes insipidus in mice lacking the CLC-K1 chloride channel.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22361

Protein quality control at the plasma membrane

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22361

Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22361

Myotonia caused by mutations in the muscle chloride channel gene CLCN1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22361

Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22361

Salt wasting and deafness resulting from mutations in two chloride channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22361

Barttin modulates trafficking and function of ClC-K channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22361

Genotype/phenotype observations in African Americans with Bartter syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22361

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22361

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22361

Spectrum of mutations in Gitelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22361

Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22361

Barttin increases surface expression and changes current properties of ClC-K channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22361

Functional and structural analysis of ClC-K chloride channels involved in renal disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22361

Identification of functionally important regions of the muscular chloride channel CIC-1 by analysis of recessive and dominant myotonic mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22361

Identification and functional analysis of novel mutations of the CLCNKB gene in Chinese patients with classic Bartter syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22361

A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22361

A new ER trafficking signal regulates the subunit stoichiometry of plasma membrane K(ATP) channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22361

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22361

inferred from DOI database lookup

7 January 2021

based on heuristic

Barttin binds to the outer lateral surface of the ClC-K2 chloride channel

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22361

inferred from DOI database lookup

7 January 2021

based on heuristic

Functional Characterization of a Calcium-Sensing Receptor Mutation in Severe Autosomal Dominant Hypocalcemia with a Bartter-Like Syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22361