Pathophysiological impact of dysfunctional common and rare variants of urate transporter ABCG2 on urate-related diseases

Yu Toyoda; Tappei Takada; Hirotaka Matsuo; Kimiyoshi Ichida; Blanka Stiburkova; Hiroshi Suzuki

doi:10.2198/electroph.65.1

Pathophysiological impact of dysfunctional common and rare variants of urate transporter ABCG2 on urate-related diseases

Electrophoresis Letters ◽

10.2198/electroph.65.1 ◽

2021 ◽

Vol 65 (1) ◽

pp. 1-5

Author(s):

Yu Toyoda ◽

Tappei Takada ◽

Hirotaka Matsuo ◽

Kimiyoshi Ichida ◽

Blanka Stiburkova ◽

...

Keyword(s):

Rare Variants ◽

Urate Transporter

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Faculty Opinions recommendation of Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1122807.579894 ◽

2008 ◽

Author(s):

Jurg Ott

Keyword(s):

Rare Variants ◽

Sequence Data ◽

Common Diseases

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Faculty Opinions recommendation of SLC2A9 is a high-capacity urate transporter in humans.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1124191.618718 ◽

2009 ◽

Author(s):

Jeff Kraut

Keyword(s):

High Capacity ◽

Urate Transporter

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Faculty Opinions recommendation of Identification of a urate transporter, ABCG2, with a common functional polymorphism causing gout.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1161406.621933 ◽

2009 ◽

Author(s):

Richard J Naftalin

Keyword(s):

Functional Polymorphism ◽

Urate Transporter

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Faculty Opinions recommendation of Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1160058.620718 ◽

2009 ◽

Author(s):

Andrew Wilkie

Keyword(s):

Type 1 Diabetes ◽

Rare Variants ◽

Antiviral Responses

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Faculty Opinions recommendation of Serotonin transporter gene-linked polymorphic region: possible pharmacogenetic implications of rare variants.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.14731.472247 ◽

2006 ◽

Author(s):

David Steffens

Keyword(s):

Serotonin Transporter ◽

Rare Variants ◽

Serotonin Transporter Gene ◽

Transporter Gene ◽

Polymorphic Region

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Faculty Opinions recommendation of Synthetic associations created by rare variants do not explain most GWAS results.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.715898103.791502804 ◽

2012 ◽

Author(s):

Carol Mathews

Keyword(s):

Rare Variants

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Faculty Opinions recommendation of Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.717952610.793458111 ◽

2012 ◽

Author(s):

Melanie Bahlo

Keyword(s):

Exome Sequencing ◽

Large Scale ◽

Rare Variants ◽

Idiopathic Generalized Epilepsy ◽

Generalized Epilepsy

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Faculty Opinions recommendation of Effect of rare variants in ADRB2 on risk of severe exacerbations and symptom control during longacting β agonist treatment in a multiethnic asthma population: a genetic study.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718310565.793494424 ◽

2014 ◽

Author(s):

Harold Nelson

Keyword(s):

Genetic Study ◽

Rare Variants ◽

Symptom Control

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Faculty Opinions recommendation of Family-based association test using both common and rare variants and accounting for directions of effects for sequencing data.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718882382.793500875 ◽

2014 ◽

Author(s):

Melanie Bahlo

Keyword(s):

Rare Variants ◽

Association Test ◽

Sequencing Data ◽

Family Based

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Faculty Opinions recommendation of Methods for association analysis and meta-analysis of rare variants in families.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.725726003.793510833 ◽

2015 ◽

Author(s):

Ellen Wijsman

Keyword(s):

Association Analysis ◽

Rare Variants ◽

Meta Analysis

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