(Q48660168)

14 February 2018

title

Pathogenic GLUT9 mutations causing renal hypouricemia type 2 (RHUC2). (English)

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14 February 2018

author

Akiyoshi Nakayama

5

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author name string

Y Kawamura

1

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14 February 2018

H Matsuo

2

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14 February 2018

T Chiba

3

1 reference

14 February 2018

S Nagamori

4

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14 February 2018

H Inoue

6

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14 February 2018

Y Utsumi

7

1 reference

14 February 2018

T Oda

8

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14 February 2018

J Nishiyama

9

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14 February 2018

Y Kanai

10

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14 February 2018

N Shinomiya

11

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14 February 2018

publication date

1 December 2011

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14 February 2018

Nucleosides, Nucleotides & Nucleic Acids

published in

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14 February 2018

volume

30

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14 February 2018

issue

12

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14 February 2018

page(s)

1105-1111

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14 February 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1080%2F15257770.2011.623685

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15257770.2011.623685

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15257770.2011.623685

SLC2A9 influences uric acid concentrations with pronounced sex-specific effects

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15257770.2011.623685

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15257770.2011.623685

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15257770.2011.623685

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15257770.2011.623685

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15257770.2011.623685

Urate oxidase: primary structure and evolutionary implications

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15257770.2011.623685

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15257770.2011.623685

Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15257770.2011.623685

Homozygous SLC2A9 mutations cause severe renal hypouricemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15257770.2011.623685

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15257770.2011.623685

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15257770.2011.623685

10.1080/15257770.2011.623685

21 January 2018

Identifiers

DOI

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14 February 2018

PubMed ID

22132964

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14 February 2018