Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia - Wikidata - wikimedia - TriplyDB

Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia

Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia

http://www.wikidata.org/entity/Q28301600

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Common polymorphisms influencing serum uric acid levels contribute to susceptibility to gout, but not to coronary artery disease Common variant of leucine-rich repeat-containing 16A (LRRC16A) gene is associated with gout susceptibility The genetics of hyperuricaemia and gout Renal transport of uric acid: evolving concepts and uncertainties Detecting low frequent loss-of-function alleles in genome wide association studies with red hair color as example Catalysis and Structure of Zebrafish Urate Oxidase Provide Insights into the Origin of Hyperuricemia in Hominoids Clinical and functional characterization of URAT1 variants Glucose transporters in the 21st Century Crystal arthritides - gout and calcium pyrophosphate arthritis : Part 1: Epidemiology and pathophysiology.Homozygous SLC2A9 mutations cause severe renal hypouricemia.Effects of irbesartan on serum uric acid levels in patients with hypertension and diabetes Metabolic syndrome, alcohol consumption and genetic factors are associated with serum uric acid concentration Prevalence and complications of hypouricemia in a general population: A large-scale cross-sectional study in Japan Association of nephrolithiasis and gene for glucose transporter type 9 (SLC2A9): study of 145 patients.Xenobiotic, bile acid, and cholesterol transporters: function and regulation.Association of a polymorphism in a gene encoding a urate transporter with CKD progression.Serum uric acid distribution according to SLC22A12 W258X genotype in a cross-sectional study of a general Japanese population.Uric acid transport and disease Paracellular route is the major urate transport pathway across the blood-placental barrier The SLC2 (GLUT) family of membrane transporters.Copy number polymorphisms near SLC2A9 are associated with serum uric acid concentrations Polymorphisms in the presumptive promoter region of the SLC2A9 gene are associated with gout in a Chinese male population.Complex analysis of urate transporters SLC2A9, SLC22A12 and functional characterization of non-synonymous allelic variants of GLUT9 in the Czech population: no evidence of effect on hyperuricemia and gout.Exploring the genetic basis of early-onset chronic kidney disease.Gout: a review of nonmodifiable and modifiable risk factors.Decreased extra-renal urate excretion is a common cause of hyperuricemia Identification of rs671, a common variant of ALDH2, as a gout susceptibility locus.Common variant of ALPK1 is not associated with gout: a replication study.Identification of a urate transporter, ABCG2, with a common functional polymorphism causing gout.Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity.Recurrent exercise-induced acute kidney injury by idiopathic renal hypouricemia with a novel mutation in the SLC2A9 gene and literature review ASSOCIATIONS BETWEEN BODY MASS INDEX AND SERUM URIC ACID LEVELS IN A JAPANESE POPULATION WERE SIGNIFICANTLY MODIFIED BY LRP2 rs2544390.No association between MTHFR C677T and serum uric acid levels among Japanese with ABCG2 126QQ and SLC22A12 258WW.Hypouricaemia and hyperuricosuria in familial renal glucosuria.Genome-Wide Association Identifies SLC2A9 and NLN Gene Regions as Associated with Entropion in Domestic Sheep Critical Roles of Two Hydrophobic Residues within Human Glucose Transporter 9 (hSLC2A9) in Substrate Selectivity and Urate Transport.Human SLC2A9a and SLC2A9b isoforms mediate electrogenic transport of urate with different characteristics in the presence of hexoses Role of monosaccharide transport proteins in carbohydrate assimilation, distribution, metabolism, and homeostasis.Reassessment of GLUT7 and GLUT9 as Putative Fructose and Glucose Transporters.Genetic analysis of ABCG2 and SLC2A9 gene polymorphisms in gouty arthritis in a Korean population

P2860

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P2860

Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia

http://www.wikidata.org/entity/Q28301600

description

2008 nî lūn-bûn

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2008 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2008 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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2008年の論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年论文

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name

Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia

@ast

Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia

@en

Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia

@nl

type

label

Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia

@ast

Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia

@en

Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia

@nl

prefLabel

Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia

@ast

Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia

@en

Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia

@nl

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J.AJHG.2008.11.001

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American Journal of Human Genetics

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Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia

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Akiyoshi Nakayama

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Hideharu Domoto

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Hirotaka Matsuo

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Junichiro Nishiyama

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Kanokporn Phetdee

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Keiko Kamakura

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Nariyoshi Shinomiya

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Pattama Wiriyasermkul

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Shigeaki Nonoyama

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Shushi Nagamori

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P2860

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

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

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

Urate oxidase: primary structure and evolutionary implications

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

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

Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

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

SLC2A9 is a high-capacity urate transporter in humans

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

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744-51

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10.1016/J.AJHG.2008.11.001

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