Homozygous SLC2A9 mutations cause severe renal hypouricemia (Q33562215)

28 July 2017

Homozygous SLC2A9 mutations cause severe renal hypouricemia (English)

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28 July 2017

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Nicola K Gray

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Gidi Rechavi

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object named as

Gideon Rechavi

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Ninette Amariglio

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Dganit Dinour

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Susan Campbell

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Xinhua Shu

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Lindsay Sawyer

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William Richardson

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Liat Ganon

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Ben-Ami Sela

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Hilla Bahat

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Michael Goldman

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Joshua Weissgarten

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Michael R Millar

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Alan F Wright

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Eliezer J Holtzman

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19 November 2009

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Journal of the American Society of Nephrology

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64-72

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Identification of a urate transporter, ABCG2, with a common functional polymorphism causing gout

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799278

Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799278

Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799278

Mutations in the SLC2A9 gene cause hyperuricosuria and hyperuricemia in the dog

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799278

SLC2A9 is a high-capacity urate transporter in humans

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799278

Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799278

Association of common polymorphisms in GLUT9 gene with gout but not with coronary artery disease in a large case-control study

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799278

Control of renal uric acid excretion and gout

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799278

SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799278

SLC2A9 influences uric acid concentrations with pronounced sex-specific effects

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799278

The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799278

Could uric acid have a role in acute renal failure?

14 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799278

Human renal organic anion transporter 4 operates as an asymmetric urate transporter

14 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799278

Hereditary renal hypouricemia

14 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799278

Mutations in human urate transporter 1 gene in presecretory reabsorption defect type of familial renal hypouricemia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799278

A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799278

Exercise-induced acute renal failure associated with renal hypouricaemia: results of a questionnaire-based survey in Japan

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799278

Identification and characterization of human glucose transporter-like protein-9 (GLUT9): alternative splicing alters trafficking.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799278

Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799278

Molecular identification of a renal urate anion exchanger that regulates blood urate levels

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799278

Multiple portions of poly(A)-binding protein stimulate translation in vivo

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799278

Cloning and expression analysis of a novel member of the facilitative glucose transporter family, SLC2A9 (GLUT9)

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799278

p-aminohippuric acid transport at renal apical membrane mediated by human inorganic phosphate transporter NPT1.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799278

The ENaC channel as the primary determinant of two human diseases: Liddle syndrome and pseudohypoaldosteronism

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799278

Urate oxidase: primary structure and evolutionary implications

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799278

Non-urate transporter 1-related renal hypouricemia and acute renal failure in an Israeli-Arab family

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799278

Plasma urate level is directly regulated by a voltage-driven urate efflux transporter URATv1 (SLC2A9) in humans

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799278

Mutational analysis of idiopathic renal hypouricemia in Korea

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799278

The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799278

Acute renal failure with severe loin pain and patchy renal ischemia after anaerobic exercise in patients with or without renal hypouricemia.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2799278

Uric acid restores endothelial function in patients with type 1 diabetes and regular smokers

31 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19926891

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Uric acid and cardiovascular risk

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19926891

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1681/ASN.2009040406

1 reference

28 July 2017

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28 July 2017

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