首页> 外国专利> USES OF THE GJB6 GENE FOR TREATING CERTAIN TYPES OF ALOPECIA INCLUDING THE CLOUSTON'S SYNDROME, AND FOR SCREENING COMPOUNDS CAPABLE OF BEING EFFICIENT IN THE TREATMENT OF ALOPECIA WITH GENETIC SUSCEPTIBILITY

USES OF THE GJB6 GENE FOR TREATING CERTAIN TYPES OF ALOPECIA INCLUDING THE CLOUSTON'S SYNDROME, AND FOR SCREENING COMPOUNDS CAPABLE OF BEING EFFICIENT IN THE TREATMENT OF ALOPECIA WITH GENETIC SUSCEPTIBILITY

机译:GJB6基因在治疗某些类型的阿鲁皮亚(包括克卢斯顿氏综合症)以及筛选具有遗传敏感性的阿鲁皮亚有效的化合物中的用途

摘要

The invention is derived from the identification of mutations in the GJB6 gene, responsible for Clouston's syndrome. The symptomatology of said syndrome suggests that the GJB6 coding for connexin 30 (Cx-30), is most probably involved also in other types of alopecia with genetic susceptibility, in particular non-pathological. Therefore, the invention concerns the GJB6 gene sequence bearing at least one of the mutations 31 (GA) and 263 (CT), responsible for Clouston's syndrome, and the use of constructs comprising the GJB6 gene, both for preparing pharmaceutical compositions for treating Clouston's syndrome and/or certain disorders of the body hair system, and for screening molecules likely to have a beneficial effect in the treatment of alopecia. The invention also concerns methods for diagnosing Clouston's syndrome.
机译:本发明源自鉴定引起克劳斯顿综合征的GJB6基因中的突变。所述综合症的症状表明,编码连接蛋白30(Cx-30)的GJB6也很可能也参与了其他具有遗传易感性的脱发,特别是非病理性脱发。因此,本发明涉及携带导致克洛斯顿综合征的突变31(G> A)和突变263(C> T)中的至少一种的GJB6基因序列,以及包含GJB6基因的构建体在制备药物组合物中的用途。用于治疗克劳斯顿氏综合症和/或体毛系统的某些疾病,以及用于筛选在脱发症治疗中可能具有有益作用的分子。本发明还涉及用于诊断克劳斯顿综合症的方法。

著录项

  • 公开/公告号EP1320603A1

    专利类型

  • 公开/公告日2003-06-25

    原文格式PDF

  • 申请/专利权人 GENETHON III;UNIVERSITE DEVRY VAL DESSONNE;

    申请/专利号EP20010972222

  • 发明设计人 WAKSMAN GILLES;LAMARTINE JEROME;

    申请日2001-09-27

  • 分类号C12N15/12;C12Q1/68;C12N15/63;C12N5/16;C12N5/22;A61K48/00;A61K38/17;A61P17/14;C07K14/705;A01K67/027;

  • 国家 EP

  • 入库时间 2022-08-21 23:49:34

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