(Q28533619)

Guiomar Perez de Nanclares

12

0 references

object named as

Gustavo Pérez de Nanclares

2

0 references

Leire Madariaga

object named as

Leire Madariaga

3

1 reference

ORCID Public Data File 2021

author name string

Alejandro García Castaño

1

0 references

Mireia Aguirre

4

0 references

Inmaculada Nadal

6

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Mercedes Navarro

7

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Elena Lucas

8

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Julia Fijo

9

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Mar Espino

10

0 references

Zilac Espitaletta

11

0 references

Gema Ariceta

Creative Commons Attribution 4.0 International

13

0 references

language of work or name

English

0 references

publication date

2013

0 references

published in

PLOS One

0 references

volume

8

0 references

issue

9

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page(s)

e74673

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copyright license

start time

18 September 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Salt wasting and deafness resulting from mutations in two chloride channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776854

Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776854

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776854

X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776854

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776854

Drastic reduction of the slow gate of human muscle chloride channel (ClC-1) by mutation C277S

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776854

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776854

Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776854

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776854

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776854

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776854

Cloning, tissue distribution, and intrarenal localization of ClC chloride channels in human kidney

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776854

A new familial disorder characterized by hypokalemia and hypomagnesemia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776854

Spectrum of mutations in Gitelman syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776854

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776854

Divalent cation transport by the distal nephron: insights from Bartter's and Gitelman's syndromes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776854

Elimination of the slow gating of ClC-0 chloride channel by a point mutation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776854

Congenital hypokalemia with hypercalciuria in preterm infants: a hyperprostaglandinuric tubular syndrome different from Bartter syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776854

Bartter syndrome and its neonatal variant

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776854

A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain

2 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0074673

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0074673

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0074673

Analysis of renal tubular electrolyte transporter genes in seven patients with hypokalemic metabolic alkalosis

21 January 2018

1 reference

12 December 2020

Renal handling of water and sodium in infancy and childhood: A study using clearance methods during hypotonic saline diuresis

1 reference

12 December 2020

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

1 reference

12 December 2020

Bartter's syndrome comes of age

1 reference

12 December 2020

Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5

1 reference

12 December 2020

Molecular analysis of patients with type III Bartter syndrome: picking up large heterozygous deletions with semiquantitative PCR

1 reference

12 December 2020

A novel splicing mutation in CLCNKB in a Chinese patient with Bartter syndrome type III

1 reference

12 December 2020

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

1 reference

12 December 2020