文献

J-GLOBAL ID：201702224589979305   整理番号：17A1802896

HPSの軽度の形態であるHermansky-Pudlakタイプ5症候群の11人の患者の臨床分子分析

Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS

著者 (19件)： Michaud Vincent (Service Genetique Medicale, CHU de Bordeaux, Bordeaux, France) ,  Lasseaux Eulalie (Service Genetique Medicale, CHU de Bordeaux, Bordeaux, France) ,  Plaisant Claudio (Service Genetique Medicale, CHU de Bordeaux, Bordeaux, France) ,  Verloes Alain (Departement de Genetique, Hopital Robert Debre, Paris, France) ,  Perdomo-Trujillo Yaumara (Affections Rares en Genetique Ophtalmologique, CHU de Strasbourg, Strasbourg, France) ,  Hamel Christian (Service d’Ophtalmologie, CHU de Montpellier, Montpellier, France) ,  Elcioglu Nursel H. (Department of Pediatric Genetics, Marmara University Medical School, Istanbul, Turkey) ,  Elcioglu Nursel H. (Eastern Mediterranean University Medical School, Cyprus, Turkey) ,  Leroy Bart (Center for Medical Genetics, Ghent University Hospital, Gent, Belgium) ,  Kaplan Josseline (Laboratoire Genetique Moleculaire, Hopital Necker-Enfants Malades, Paris, France) ,  Jouk Pierre-Simon (Service Genetique Clinique, CHU de Grenoble Site La Tronche, Hopital Couple Enfant, Grenoble, France) ,  Lacombe Didier (Service Genetique Medicale, CHU de Bordeaux, Bordeaux, France) ,  Lacombe Didier (Unite INSERM U1211, Maladies Rares: Genetique et Metabolisme, Bordeaux, France) ,  Fergelot Patricia (Service Genetique Medicale, CHU de Bordeaux, Bordeaux, France) ,  Fergelot Patricia (Unite INSERM U1211, Maladies Rares: Genetique et Metabolisme, Bordeaux, France) ,  Morice-Picard Fanny (Service Genetique Medicale, CHU de Bordeaux, Bordeaux, France) ,  Morice-Picard Fanny (Service de Dermatologie Pediatrique, Centre de Reference Maladies Rares de la Peau, CHU de Bordeaux, Bordeaux, France) ,  Arveiler Benoit (Service Genetique Medicale, CHU de Bordeaux, Bordeaux, France) ,  Arveiler Benoit (Unite INSERM U1211, Maladies Rares: Genetique et Metabolisme, Bordeaux, France)
資料名： Pigment Cell & Melanoma Research  (Pigment Cell & Melanoma Research)
巻： 30  号： 6  ページ： 563-570  発行年： 2017年11月 
JST資料番号： T0984A  ISSN： 1755-1471  資料種別： 逐次刊行物 (A)
記事区分： 短報  発行国： イギリス (GBR)  言語： 英語 (EN)

抄録/ポイント： Hermansky-Pudlak症候群(HPS)は,1959...

シソーラス用語： *遺伝病 ,...
準シソーラス用語： Hermanski-Pudlak症候群 ,...

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著者キーワード (3件)： Hermansky-Pudlak症候群 ,  リソソーム関連オルガネラは障害 ,  眼皮膚白皮症

分類 (1件)： 先天性疾患・奇形一般  (GD03010V)

引用文献 (24件)：

• Carmona-Rivera, C., Golas, G., Hess, R., Cardillo, N. D., Martin, E. H., O'Brien, K., ... Gahl, W. A. (2011). Clinical, molecular and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent. Journal of Investigative Dermatology, 131, 2394-2400. https://doi.org/10.1038/jid.2011.228
• Dell'Angelica, E. C. (2004). The building BLOC(k)s of lysosomes and related organelles. Current Opinion in Cell Biology, 16, 458-464. https://doi.org/10.1016/j.ceb.2004.05.001
• Dennis, M. K., Mantegazza, A. R., Snir, O. L., Tenza, D., Acosta-Ruiz, A., Delevoye, C., ... Setty, S. R. G. (2015). BLOC-2 targets recycling endosomal tubules to melanosomes for cargo delivery. Journal of Cell Biology, 209, 563-577. https://doi.org/10.1083/jcb.201410026
• Di Pietro, S. M., Falcón-Pérez, J. M., & Dell'Angelica, E. C. (2004). Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6. Traffic, 5, 276-283. https://doi.org/10.1111/j.1600-0854.2004.0171.x
• Gautam, R., Chintala, S., Li, W., Zhang, Q., Tan, J., Novak, E. K., ... Swank, R. T. (2004). The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2). Journal of Biological Chemistry, 279, 12935-12942. https://doi.org/10.1074/jbc.M311311200

タイトルに関連する用語 (9件)： HPS ,  軽度 ,  形態 ,  タイプ ,  症候群 ,  患者 ,  臨床 ,  分子 ,  分析