Art

J-GLOBAL ID：201702258420103434   Reference number：17A0087843

Functional analysis of novel allelic variants in URAT1 and GLUT9 causing renal hypouricemia type 1 and 2

腎低尿酸血症1と2型を生じるURAT1およびGLUT9の新しい対立遺伝子変異型の機能分析

Author (10)： Mancikova Andrea (Charles University in Prague) ,  Krylov Vladimir (Charles University in Prague) ,  Hurba Olha (Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague) ,  Sebesta Ivan (Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague) ,  Sebesta Ivan (Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague) ,  Nakamura Makiko (Tokyo University of Pharmacy and Life Sciences) ,  Ichida Kimiyoshi (Tokyo University of Pharmacy and Life Sciences) ,  Ichida Kimiyoshi (Jikei University School of Medicine) ,  Stiburkova Blanka (Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague) ,  Stiburkova Blanka (Institute of Rheumatology)
Material： Clinical and Experimental Nephrology  (Clin Exp Nephrol)
Volume： 20  Issue： 4  Page： 578-584  Publication year： Aug. 2016 
JST Material Number： L3173A  ISSN： 1342-1751  Document type： Article
Article type： 原著論文  Country of issue： Germany, Federal Republic of (DEU)  Language： ENGLISH (EN)

Thesaurus term： *kidney disease ,...
Semi thesaurus term： *Renal hypouricemia ,...

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Author keywords (6)： Renal hypouricemia ,  SLC22A12 ,  URAT1 ,  SLC2A9 ,  GLUT9 ,  Uric acid transporters

JST classification (3)： Basic medicine on urogenital system  (GM01020T) ,  Metabolic diseases,nutritional diseases in general.  (GD05010J) ,  Molecular genetics in general  (EC02010J)

Substance index (1)： Uric Acid

Reference (28)：

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• Phay JE, Hussain HB, Moley JF. Cloning and expression analysis of a novel member of the facilitative glucose transporter family, SLC2A9 (GLUT9). Genomics. 2000;66:217-20.
• Ichida K, Hosoyamada M, Hisatome I, Enomoto A, Hikita M, Endou H, Hosoya T. Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion. J Am Soc Nephrol. 2004;15:164-73.
• Iwai N, Mino Y, Hosoyamada M, Tago N, Kokubo Y, Endou H. A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese. Kidney Int. 2004;66:935-44.
• Ichida K, Hosoyamada M, Kamatani N, Kamitsuji S, Hisatome I, Shibasaki T, Hosoya T. Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese. Clin Genet. 2008;74:243-51.

Terms in the title (6)： 腎 ,  低尿酸血症 ,  URAT1 ,  GLUT9 ,  対立遺伝子変異 ,  機能分析