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12 条记录 (耗时 0.034 秒)

    Methods of detecting Charcot-Marie Tooth disease type 2A
    4.
    发明申请
    Methods of detecting Charcot-Marie Tooth disease type 2A 有权
    检查Charcot-Marie牙病2A型的方法

    公开(公告)号：US20050181390A1

    公开(公告)日：2005-08-18

    申请号：US10987174

    申请日：2004-11-12

    申请人： Jeffery Vance ,  Stephan Zuchner ,  Margaret Pericak-Vance

    发明人： Jeffery Vance ,  Stephan Zuchner ,  Margaret Pericak-Vance

    IPC分类号： C12Q1/68

    CPC分类号： C12Q1/6883 ,  C12Q2600/156 ,  C12Q2600/172

    摘要： Methods are described for screening a subject for risk of Charcot-Marie-Tooth Disease Type 2A or for diagnosing Charcot-Marie-Tooth disease or a predisposition for developing Charcot-Marie-Tooth disease in a subject, by detecting the presence or absence of a mutation in the mitofusin gene in a biological sample collected from the subject. Methods are also described for detecting the presence of a genetic polymorphism associated with Charcot-Marie-Tooth Disease Type 2A in a sample of patient nucleic acid, by amplifying a mitofusin gene sequence in the patient nucleic acid to produce an amplification product; and identifying the presence of a Charcot-Marie-Tooth Disease Type 2A associated polymorphism in the amplification product.

    摘要翻译： 描述了用于筛选患有Charcot-Marie-Tooth Disease 2A型风险的受试者或用于诊断Charcot-Marie-Tooth疾病或倾向于在受试者中发展Charcot-Marie-Tooth疾病的倾向的方法，通过检测是否存在 从受试者收集的生物样品中的mitofusin基因突变。 还描述了通过扩增患者核酸中的丝裂霉素基因序列以产生扩增产物来描述用于在患者核酸样品中检测与Charcot-Marie-Tooth Disease 2A型相关的遗传多态性的存在的方法; 并鉴定扩增产物中Charcot-Marie-Tooth Disease 2A型相关多态性的存在。

    TRPC6 involved in glomerulonephritis
    8.
    发明申请
    TRPC6 involved in glomerulonephritis 审中-公开
    TRPC6参与肾小球性肾炎

    公开(公告)号：US20060257500A1

    公开(公告)日：2006-11-16

    申请号：US11417113

    申请日：2006-05-04

    申请人： Michelle Winn ,  Margaret Pericak-Vance ,  Jeffery Vance

    发明人： Michelle Winn ,  Margaret Pericak-Vance ,  Jeffery Vance

    IPC分类号： A61K33/24 ,  A61K31/69 ,  C07H21/04 ,  C12P21/06 ,  C07K14/705

    CPC分类号： C12Q1/6883 ,  A61K31/4174 ,  A61K31/69 ,  A61K33/24 ,  A61K38/00 ,  C07K14/705 ,  C12Q2600/118 ,  C12Q2600/136 ,  C12Q2600/156 ,  C12Q2600/158 ,  G01N33/6872 ,  G01N2333/705 ,  G01N2500/04 ,  G01N2800/347 ,  G01N2800/52

    摘要： Focal and segmental glomerulosclerosis (FSGS) is a kidney disorder of unknown etiology and up to 20% of patients on dialysis have this diagnosis. A large family with hereditary FSGS carries a missense mutation in the TRPC6 gene on chromosome 11q, encoding the ion channel protein Transient Receptor Potential Cation Channel 6. The missense mutation is a P112Q substitution, which occurs in a highly conserved region of the protein, enhances TRPC6-mediated calcium signals in response to agonists such as angiotensin II, and alters the intracellular distribution of TRPC6 protein. Previous work has emphasized the importance of cytoskeletal and structural proteins in proteinuric kidney diseases. Our findings suggest a novel mechanism for glomerular disease pathogenesis.

    摘要翻译： 焦点和节段性肾小球硬化（FSGS）是一种病因不明的肾脏疾病，多达20％的透析患者有这种诊断。 具有遗传性FSGS的大家族在染色体11q上的TRPC6基因中携带错义突变，编码离子通道蛋白瞬时受体电位阳离子通道6.错义突变是P112Q取代，其发生在蛋白质的高度保守的区域中，增强 TRPC6介导的钙信号响应于激动剂如血管紧张素II，并改变TRPC6蛋白的细胞内分布。 以前的工作已经强调了细胞骨架和结构蛋白在蛋白尿肾脏疾病中的重要性。 我们的研究结果表明肾小球疾病发病机制。

    Methods and compositions for genetic markers for autism
    10.
    发明申请
    Methods and compositions for genetic markers for autism 审中-公开
    自闭症遗传标记的方法和组成

    公开(公告)号：US20070292962A1

    公开(公告)日：2007-12-20

    申请号：US11786077

    申请日：2007-04-10

    申请人： Margaret Pericak-Vance ,  John Gilbert ,  Michael Cuccaro ,  John Hussman

    发明人： Margaret Pericak-Vance ,  John Gilbert ,  Michael Cuccaro ,  John Hussman

    IPC分类号： C12Q1/68

    CPC分类号： C12Q1/6883 ,  C12Q2600/156 ,  C12Q2600/172 ,  Y10T436/143333

    摘要： The present invention provides methods of identifying a subject having an increased risk of developing autistic disorder, comprising: a) correlating the presence of one or more genetic markers within a GABAR subunit gene with an increased risk of developing autistic disorder; and b) detecting the one or more genetic markers of step (a) in the subject, thereby identifying the subject as having an increased risk of developing autistic disorder. Also provided are methods of identifying effective treatment regimens for autistic disorder, based on correlation with genetic markers a GABAR subunit gene. The present invention further provides methods of diagnosing an autistic disorder in a subject, comprising detecting genetic markers correlated with a diagnosis of an autistic disorder.

    摘要翻译： 本发明提供了鉴定具有增加的自闭症障碍风险的受试者的方法，其包括：a）将GABAR亚基基因内的一种或多种遗传标记的存在与发展自闭症的风险增加相关联; 和b）检测受试者中步骤（a）的一种或多种遗传标记，从而将受试者鉴定为发生自闭症的风险增加。 还提供了基于与遗传标记GABAR亚基基因的相关性来鉴定自闭症的有效治疗方案的方法。 本发明还提供诊断受试者自闭症的方法，其包括检测与自闭症无关的诊断相关的遗传标记。