文献

J-GLOBAL ID：201702258420103434   整理番号：17A0087843

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

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

著者 (10件)： 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)
資料名： Clinical and Experimental Nephrology  (Clinical and Experimental Nephrology)
巻： 20  号： 4  ページ： 578-584  発行年： 2016年08月 
JST資料番号： L3173A  ISSN： 1342-1751  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： ドイツ (DEU)  言語： 英語 (EN)

抄録/ポイント： 背景:腎低尿酸血症は,急性腎損傷および腎結石症の様な,重度の...

シソーラス用語： *腎臓病 ,...
準シソーラス用語： グルコース輸送体 ,...

ログイン（無料）して見る     続きはJDreamIII（有料）にて  {{ this.onShowAbsJLink("http://jdream3.com/lp/jglobal/index.html?docNo=17A0087843&from=J-GLOBAL&jstjournalNo=L3173A") }}

著者キーワード (6件)： Renal hypouricemia ,  SLC22A12 ,  URAT1 ,  SLC2A9 ,  GLUT9 ,  Uric acid transporters

分類 (3件)： 泌尿生殖器の基礎医学  (GM01020T) ,  代謝異常・栄養性疾患一般  (GD05010J) ,  分子遺伝学一般  (EC02010J)

物質索引 (1件)： 尿酸

引用文献 (28件)：

• Enomoto A, Kimura H, Chairoungdua A, Shigeta Y, Jutabha P, Cha SH, Hosoyamada M, Takeda M, Sekine T, Igarashi T, Matsuo H, Kikuchi Y, Oda T, Ichida K, Hosoya T, Shimokata K, Niwa T, Kanai Y, Endou H. Molecular identification of a renal urate anion exchanger that regulates blood urate levels. Nature. 2002;417:447-52.
• 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.

タイトルに関連する用語 (6件)： 腎 ,  低尿酸血症 ,  URAT1 ,  GLUT9 ,  対立遺伝子変異 ,  機能分析