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1.发明申请公开(公告)号：US20130005806A1
公开(公告)日：2013-01-03
申请号：US13525677
申请日：2012-06-18
申请人： Arthur L. Beaudet , Frederic M. Vaz
发明人： Arthur L. Beaudet , Frederic M. Vaz
IPC分类号： A61K31/205 , A61P25/00 , A61K31/221
CPC分类号： A61K31/205 , A61K31/221
摘要： Embodiments of the invention include determining whether an individual has autism spectrum disorder or is at risk for developing autism spectrum disorder or at risk for regression of or into autism spectrum disorder. Specific embodiments include the determination of indicative levels of carnitine or other metabolites in carnitine biosynthesis and may include assaying for mutations in TMLHE, including in exon 2, for example. In some cases one can assay for mutations in TMLHE in the absence of biochemical analysis of carnitine biosynthesis metabolites. An individual with deficiency in TMLHE and/or carnitine levels may be administered carnitine, acetylcarnitine, butyrobetaine, or a combination thereof, for example.
摘要翻译： 本发明的实施方案包括确定个体是否具有自闭症谱系障碍或处于发展自闭症谱系障碍或处于自闭症谱系障碍的退化或自闭症风险的风险中。 具体实施方案包括确定肉碱生物合成中肉碱或其他代谢物的指示水平，并且可以包括测定TMLHE中的突变，包括例如外显子2中的突变。 在某些情况下，可以在不存在肉碱生物合成代谢产物的生物化学分析的情况下测定TMLHE中的突变。 例如，具有TMLHE和/或肉碱水平不足的个体可以给予肉碱，乙酰肉碱，丁子甜菜碱或其组合。
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公开(公告)号：US06884590B1
公开(公告)日：2005-04-26
申请号：US09419408
申请日：1999-10-15
IPC分类号： C07K14/705 , C07K16/28 , C12Q1/68 , G01N33/53
CPC分类号： C12Q1/6883 , C07K14/70525 , C07K16/2821 , C12Q2600/156
摘要： A novel association between IBD and a polymorphism at amino acid residue 241 of ICAM-1 has been discovered. In accordance with the present invention there is provided methods of screening for IBD, methods for treating IBD, antibodies specifically reactive with ICAM-1 encoded by, R241 allele and kits which exploit the inventive methods.
摘要翻译： 已经发现了IBD与ICAM-1氨基酸残基241之间的多态性的新型关联。 根据本发明，提供了筛选IBD的方法，用于治疗IBD的方法，与由R241等位基因编码的ICAM-1特异性反应的抗体以及利用本发明方法的试剂盒。
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3.发明授权
公开(公告)号：US5602307A
公开(公告)日：1997-02-11
申请号：US309549
申请日：1994-09-20
申请人： Arthur L. Beaudet , Raymond Wilson , Allan Bradley , William E. O'Brien , James Sligh , Christie Ballantyne , Daniel Bullard
发明人： Arthur L. Beaudet , Raymond Wilson , Allan Bradley , William E. O'Brien , James Sligh , Christie Ballantyne , Daniel Bullard
IPC分类号： C07K14/705 , C12N15/85 , C12N15/00 , A61K49/00 , C12N5/00
CPC分类号： C12N15/8509 , A01K67/0276 , C07K14/70503 , C07K14/70553 , C07K14/7056 , A01K2217/05 , A01K2217/075 , A01K2227/105 , A01K2267/03 , A01K2267/0306 , A01K2267/0368
摘要： A transgenic mouse which contains a predefined, specific and desired alteration in at least one of its two chromosomal alleles of a cellular adhesion gene, such that at least one of these alleles contains a mutation which alters the expression of the allele.
摘要翻译： 一种转基因小鼠，其在细胞粘附基因的两个染色体等位基因中的至少一个中含有预定义的，特异性和期望的改变，使得这些等位基因中的至少一个含有改变等位基因表达的突变。
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公开(公告)号：US6008335A
公开(公告)日：1999-12-28
申请号：US933824
申请日：1997-09-19
IPC分类号： C07K14/705 , C07K16/28 , C12Q1/68 , C07H21/02 , C07H21/04
CPC分类号： C07K16/2821 , C07K14/70525 , C12Q1/6883 , C12Q2600/156
摘要： A novel association between IBD and a polymorphism at amino acid residue 241 of ICAM-1 has been discovered. In accordance with the present invention there is provided methods of screening for IBD, methods for treating IBD, antibodies specifically reactive with ICAM-1 encoded by R241 allele and kits which exploit the inventive methods.
摘要翻译： 已经发现了IBD与ICAM-1氨基酸残基241之间的多态性的新型关联。 根据本发明，提供了筛选IBD的方法，用于治疗IBD的方法，与由R241等位基因编码的ICAM-1特异性反应的抗体以及利用本发明方法的试剂盒。
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公开(公告)号：US5681699A
公开(公告)日：1997-10-28
申请号：US196003
申请日：1994-02-11
IPC分类号： C07K14/705 , C07K16/28 , C12Q1/68 , C07H21/02 , C07H21/04
CPC分类号： C07K16/2821 , C07K14/70525 , C12Q1/6883 , C12Q2600/156
摘要： A novel association between IBD and a polymorphism at amino acid residue 241 of ICAM-1 has been discovered. In accordance with the present invention there is provided methods of screening for IBD, methods for treating IBD, antibodies specifically reactive wish ICAM-1 encoded by R241 allele and kits which exploit the inventive methods.
摘要翻译： 已经发现了IBD与ICAM-1氨基酸残基241之间的多态性的新型关联。 根据本发明，提供了筛选IBD的方法，用于治疗IBD的方法，由R241等位基因编码的抗体特异性反应性愿望ICAM-1和利用本发明方法的试剂盒。
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