文献

J-GLOBAL ID：201402267753959910   整理番号：14A0153920

複雑さが増す:白皮症の新規遺伝子と新たな型

Increasing the complexity: new genes and new types of albinism

著者 (21件)： MONTOLIU Lluis (CSIC, Madrid, ESP) ,  MONTOLIU Lluis (CIBERER, Madrid, ESP) ,  GRONSKOV Karen (Copenhagen Univ. Hospital, Copenhagen, DNK) ,  GRONSKOV Karen (Univ. Copenhagen, Copenhagen, DNK) ,  WEI Ai-Hua (Beijing Tongren Affiliated Hospital of Capital Medical Univ., Beijing, CHN) ,  MARTINEZ-GARCIA Monica (CSIC, Madrid, ESP) ,  MARTINEZ-GARCIA Monica (CIBERER, Madrid, ESP) ,  FERNANDEZ Almudena (CSIC, Madrid, ESP) ,  FERNANDEZ Almudena (CIBERER, Madrid, ESP) ,  ARVEILER Benoit (Univ. Bordeaux, Bordeaux, FRA) ,  ARVEILER Benoit (CHU de Bordeaux, Bordeaux, FRA) ,  MORICE-PICARD Fanny (Univ. Bordeaux, Bordeaux, FRA) ,  MORICE-PICARD Fanny (CHU de Bordeaux, Bordeaux, FRA) ,  RIAZUDDIN Saima (Cincinnati Childrens Hospital Res. Foundation, OH, USA) ,  RIAZUDDIN Saima (Univ. Cincinnati, OH, USA) ,  SUZUKI Tamio (Yamagata Univ., Yamagata, JPN) ,  AHMED Zubair M. (Cincinnati Childrens Hospital Res. Foundation, OH, USA) ,  AHMED Zubair M. (Univ. Cincinnati, OH, USA) ,  ROSENBERG Thomas (Copenhagen Univ. Hospital, Copenhagen, DNK) ,  ROSENBERG Thomas (Univ. Copenhagen, Copenhagen, DNK) ,  LI Wei (Inst. Genetics and Developmental Biology, Chinese Acad. Sci., Beijing, CHN)
資料名： Pigment Cell & Melanoma Research  (Pigment Cell & Melanoma Research)
巻： 27  号： 1  ページ： 11-18  発行年： 2014年01月 
JST資料番号： T0984A  ISSN： 1755-1471  資料種別： 逐次刊行物 (A)
記事区分： 文献レビュー  発行国： イギリス (GBR)  言語： 英語 (EN)

抄録/ポイント： 白皮症は視覚の低下や様々な色素脱失表現型を特徴とする遺伝的疾...

シソーラス用語： *遺伝病 ,...
準シソーラス用語： c10orf11遺伝子 ,...

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分類 (2件)： 遺伝的変異  (EC01030Y) ,  先天性疾患・奇形一般  (GD03010V)

引用文献 (67件)：

• Anikster, Y., Huizing, M., White, J. et al. (2001). Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Nat. Genet. 28, 376-380.
• Aquaron, R., Soufir, N., Bergé-Lefranc, J.L., Badens, C., Austerlitz, F., and Grandchamp, B. (2007). Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene. J. Hum. Genet. 52, 771-780.
• Bella, J., Hindle, K.L., McEwan, P.A., and Lovell, S.C. (2008). The leucine-rich repeat structure. Cell. Mol. Life Sci. 65, 2307-2333.
• Cruz-Inigo, A.E., Ladizinski, B., and Sethi, A. (2011). Albinism in Africa: stigma, slaughter and awareness campaigns. Dermatol. Clin. 29, 79-87.
• Cullinane, A.R., Curry, J.A., Carmona-Rivera, C. et al. (2011). BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak syndrome type 9. Am. J. Hum. Genet. 88, 778-787.

タイトルに関連する用語 (4件)： 複雑さ ,  白皮症 ,  遺伝子 ,  型