Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia (Q28301600)

2

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Shushi Nagamori

3

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Akiyoshi Nakayama

4

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Hideharu Domoto

5

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Kanokporn Phetdee

6

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Pattama Wiriyasermkul

7

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Yuichi Kikuchi

8

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Takashi Oda

9

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Junichiro Nishiyama

10

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Takahiro Nakamura

11

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Yuji Morimoto

12

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Keiko Kamakura

13

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Yutaka Sakurai

14

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Shigeaki Nonoyama

15

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Yoshikatsu Kanai

16

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Nariyoshi Shinomiya

American Journal of Human Genetics

17

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language of work or name

English

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publication date

December 2008

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published in

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volume

83

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issue

6

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page(s)

744-51

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cites work

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

1 reference

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

20 March 2017

1 reference

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Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

20 March 2017

1 reference

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

20 March 2017

1 reference

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

20 March 2017

1 reference

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The extended GLUT-family of sugar/polyol transport facilitators: nomenclature, sequence characteristics, and potential function of its novel members (review)

20 March 2017

1 reference

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GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier

20 March 2017

1 reference

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Urate oxidase: primary structure and evolutionary implications

20 March 2017

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SLC2A9 is a high-capacity urate transporter in humans

20 March 2017

1 reference

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Identification and characterization of a novel member of the heterodimeric amino acid transporter family presumed to be associated with an unknown heavy chain

20 March 2017

1 reference

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Association of a common nonsynonymous variant in GLUT9 with serum uric acid levels in old order amish

20 March 2017

1 reference

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Structural signatures and membrane helix 4 in GLUT1: inferences from human blood-brain glucose transport mutants

29 September 2017

1 reference

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SLC2A9 influences uric acid concentrations with pronounced sex-specific effects

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668068

GLUT1 and GLUT9 as major contributors to glucose influx in HepG2 cells identified by a high sensitivity intramolecular FRET glucose sensor

29 September 2017

1 reference

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

29 September 2017

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

29 September 2017

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Identification of a novel Na+-independent acidic amino acid transporter with structural similarity to the member of a heterodimeric amino acid transporter family associated with unknown heavy chains

29 September 2017

1 reference

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Patients with renal hypouricemia with exercise-induced acute renal failure and chronic renal dysfunction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668068

Role of conserved arginine and glutamate residues on the cytosolic surface of glucose transporters for transporter function

29 September 2017

1 reference

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Evidence for a postsecretory reabsorptive site for uric acid in man.

29 September 2017

1 reference

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Primary structure and functional characterization of a high-affinity glutamate transporter

29 September 2017

1 reference

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A conserved amino acid motif (R-X-G-R-R) in the Glut1 glucose transporter is an important determinant of membrane topology

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668068

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

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668068

Mouse glucose transporter 9 splice variants are expressed in adult liver and kidney and are up-regulated in diabetes

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668068

Glucose transporter type 1 deficiency syndrome (Glut1DS): methylxanthines potentiate GLUT1 haploinsufficiency in vitro

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668068

Familial paroxysmal dystonic choreoathetosis: clinical findings in a large Japanese family and genetic linkage to 2q.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668068

Mutational analysis of the anion exchanger 3 gene in familial paroxysmal dystonic choreoathetosis linked to chromosome 2q

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19026395

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2008.11.001

1 reference

release_n6ucg4sihvgctegxxwidiqpzma

1623847

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/n6ucg4sihvgctegxxwidiqpzma

mapped directly with Wikidata item

24 November 2022

based on heuristic

1623847

1 reference

1 reference

1 reference