SLC4A11 prevents osmotic imbalance leading to corneal endothelial dystrophy, deafness, and polyuria. (Q28590585)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20185830%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

title

SLC4A11 prevents osmotic imbalance leading to corneal endothelial dystrophy, deafness, and polyuria (English)

1 reference

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Solute carrier family 4, sodium bicarbonate transporter-like, member 11

18 January 2020

main subject

endothelium

0 references

1 reference

corneal endothelial dystrophy

GOA release 2020-03-11

1 reference

1 reference

6

1 reference

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18 January 2020

4

Andrea Olbrich

1 reference

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18 January 2020

author name string

Nicole Gröger

1

1 reference

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18 January 2020

Henning Fröhlich

2

1 reference

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18 January 2020

Hannes Maier

3

1 reference

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18 January 2020

Sawa Kostin

5

1 reference

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18 January 2020

Thomas Boettger

7

1 reference

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18 January 2020

language of work or name

English

0 references

publication date

25 February 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20185830%20AND%20SRC:MED&resulttype=core&format=json

Journal of Biological Chemistry

18 January 2020

published in

1 reference

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18 January 2020

volume

285

1 reference

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18 January 2020

issue

19

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18 January 2020

page(s)

14467-14474

1 reference

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Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy

18 January 2020

cites work

1 reference

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NaBC1 is a ubiquitous electrogenic Na+ -coupled borate transporter essential for cellular boron homeostasis and cell growth and proliferation

17 March 2017

1 reference

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Arabidopsis boron transporter for xylem loading.

17 March 2017

1 reference

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Reduced water permeability and altered ultrastructure in thin descending limb of Henle in aquaporin-1 null mice

17 March 2017

1 reference

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Severely impaired urinary concentrating ability in transgenic mice lacking aquaporin-1 water channels

17 March 2017

1 reference

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Slc4a11 gene disruption in mice: cellular targets of sensorineuronal abnormalities

17 March 2017

1 reference

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Endocochlear potential depends on Cl- channels: mechanism underlying deafness in Bartter syndrome IV.

29 September 2017

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Mouse models and the urinary concentrating mechanism in the new millennium

29 September 2017

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Gene trap mutagenesis: a functional genomics approach towards reproductive research

29 September 2017

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Autosomal recessive CHED associated with novel compound heterozygous mutations in SLC4A11.

29 September 2017

1 reference

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Measurement of cation exchange capacity (CEC) of plant cell walls by X-ray microanalysis (EDX) in the transmission electron microscope

29 September 2017

1 reference

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Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. Online

29 September 2017

1 reference

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The Role of the Tight Junction in Paracellular Fluid Transport across Corneal Endothelium. Electro-osmosis as a Driving Force

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863209

Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).

29 September 2017

1 reference

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SLC4 base (HCO3 -, CO3 2-) transporters: classification, function, structure, genetic diseases, and knockout models

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863209

Two ways to trap a gene in mice

29 September 2017

1 reference

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Molecular pathophysiology of SLC4 bicarbonate transporters

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863209

Identity and regulation of ion transport mechanisms in the corneal endothelium

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863209

Aquaporins in the kidney: from molecules to medicine

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863209

Human BTR1, a new bicarbonate transporter superfamily member and human AE4 from kidney

29 September 2017

1 reference

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Defective proximal tubular fluid reabsorption in transgenic aquaporin-1 null mice

29 September 2017

1 reference

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Germ line chimeras from female ES cells

29 September 2017

1 reference

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Congenital corneal dystrophy. Progressive sensorineural deafness in a family

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863209

Corneal endothelium transports fluid in the absence of net solute transport

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863209

A micropuncture study of Henle's thin loop in Brattleboro rats

3 June 2018

1 reference

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Intracellular pH regulation in fresh and cultured bovine corneal endothelium. I. Na+/H+ exchange in the absence and presence of HCO3-

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2863209

SLC4A11 mutations in Fuchs endothelial corneal dystrophy.

3 June 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.094680

Permeability and the mechanism of transport of boric acid across the plasma membrane of Xenopus laevis oocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.094680

Aquaporin-1 is not expressed in descending thin limbs of short-loop nephrons

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.094680

Altered expression profile of transporters in the inner medullary collecting duct of aquaporin-1 knockout mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.094680

Identification of mutations in the SLC4A11 gene in patients with recessive congenital hereditary endothelial dystrophy

21 January 2018

1 reference

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Plant biology: Ping-pong with boron

21 January 2018

1 reference

12 December 2020

Aquaporin-1 water channels in short and long loop descending thin limbs and in descending vasa recta in rat kidney

1 reference

12 December 2020

[Localization of the concentration process in the kidney by direct kryoscopy]

1 reference

12 December 2020

Molecular expression of SLC4-derived Na+-dependent anion transporters in selected human tissues

1 reference

12 December 2020

Identifiers

DOI

10.1074/JBC.M109.094680

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20185830%20AND%20SRC:MED&resulttype=core&format=json

release_7eq7fg52g5cihc2ihc4e4jz4iu

18 January 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/7eq7fg52g5cihc2ihc4e4jz4iu

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20185830%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

PubMed publication ID

20185830

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20185830%20AND%20SRC:MED&resulttype=core&format=json