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1.发明申请Peripherin and Neurofilament Light Protein Splice Variants in Amyotrophic Lateral Sclerosis (ALS) 审中-公开肌萎缩性侧索硬化症（ALS）中的外周血和神经丝光蛋白剪接变体公开(公告)号：US20090053723A1
公开(公告)日：2009-02-26
申请号：US12196622
申请日：2008-08-22
申请人： Shangxi Xiao , Janice Robertson
发明人： Shangxi Xiao , Janice Robertson
CPC分类号： C12Q1/6883 , C07K14/47 , C07K16/18 , C12N15/113 , C12N2310/14 , C12Q2600/136 , C12Q2600/156 , C12Q2600/158 , G01N33/6896 , G01N2800/2835
摘要： Nucleotide sequences encoding novel splice variants of peripherin and neurofilament light protein, proteins encoded by the novel splice variants and antibodies thereto are disclosed. In addition, methods are described for detecting ALS in a subject suspected of having ALS, comprising detecting the presence or absence of the novel splice variants or resulting proteins or a change in the amount of the novel splice variants or resulting proteins; wherein the presence or change in the amount of the nucleotide sequence is indicative of ALS.
摘要翻译： 公开了编码外周蛋白和神经丝光蛋白的新型剪接变体的核苷酸序列，由所述新型剪接变体及其抗体编码的蛋白质。 此外，描述了用于检测疑似患有ALS的受试者中的ALS的方法，包括检测新的剪接变体或所得蛋白质的存在或不存在，或新剪接变体或所得蛋白质的量的变化; 其中所述核苷酸序列的量的存在或改变指示ALS。
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2.发明授权Method of diagnosing and treating dentinogenesis imperfecta type II by using dentin sialophosphoprotein gene and coded product thereof 有权使用牙本质唾液磷酸蛋白基因诊断和治疗II型不完全性的方法及其编码产物公开(公告)号：US07396644B2
公开(公告)日：2008-07-08
申请号：US10363798
申请日：2001-08-30
申请人： Xiangyin Kong , Shangxi Xiao , Guoping Zhao , Chuan Yu , Landian Hu
发明人： Xiangyin Kong , Shangxi Xiao , Guoping Zhao , Chuan Yu , Landian Hu
CPC分类号： G01N33/6893 , A61K38/00
摘要： The invention has disclosed a method for diagnosis of dentinogenesis imperfecta type II (DGI-II) and/or dentinogenesis imperfecta type II with deafness (DGI-II with deafness). Said method comprises the steps of detecting the DSPP gene, transcript and/or protein in said subject and comparing it with the normal DSPP gene, transcript and/or protein to determine whether there is any variation, wherein said variation indicates that the possibility of suffering DGI-II and/or DGI-II with deafness in said subject is higher than the normal population. The present invention also discloses the method and pharmaceutical composition for treating DGI-II and/or DGI-II with deafness.
摘要翻译： 本发明公开了一种用于诊断牙龈发育不全II型（DGI-II）和/或耳聋牙本质发生不全II型（DGI-II与耳聋）的方法。 所述方法包括以下步骤：检测所述受试者中的DSPP基因，转录本和/或蛋白质，并将其与正常的DSPP基因，转录物和/或蛋白质进行比较，以确定是否存在任何变异，其中所述变异指示患有可能性 所述受试者具有耳聋的DGI-II和/或DGI-II高于正常人群。 本发明还公开了用于治疗耳聋的DGI-II和/或DGI-II的方法和药物组合物。
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