| 序号 | 专利名 | 申请号 | 申请日 | 公开（公告）号 | 公开（公告）日 | 发明人 |
|---|---|---|---|---|---|---|
| 1 | 钙调蛋白基因中的突变 | CN201380031218.7 | 2013-04-12 | CN104540847A | 2015-04-22 | M·T·奥弗高; M·奈戈德; A·博格卢姆 |
| 本发明涉及编码至少一部分钙调蛋白的经分离的多核苷酸和包含至少一部分钙调蛋白的经分离的多肽，其中所述多核苷酸和多肽包含与心脏失调相关的至少一个突变。本发明还涉及用于确定个体是否具有增加的罹患心脏失调的风险的方法、用于诊断心脏失调的方法、用于治疗患有心脏失调的个体的方法、用于鉴定能够增强钙调蛋白与兰尼碱受体2的结合的化合物的方法和这样的化合物在治疗具有心脏失调的个体中的用途。本发明还提供了可以用于检测钙调蛋白编码基因中的具体突变的试剂盒。 | ||||||
| 2 | Mutations In Calmodulin Genes | US14391266 | 2013-04-12 | US20150218636A1 | 2015-08-06 | Michael Toft Overgaard; Mette Nyegaard; Anders Borglum |
| The present invention relates to an isolated polynucleotide encoding at least a part of calmodulin and an isolated polypeptide comprising at least a part of a calmodulin protein, wherein the polynucleotide and the polypeptide comprise at least one mutation associated with a cardiac disorder. The present invention also relates to a method for determining whether an individual has an increased risk of contracting a cardiac disorder, a method for diagnosing a cardiac disorder, method for treatment of an individual having a cardiac disorder, method for identifying a compound, capable of enhancing the binding of calmodulin to ryanodine receptor 2 and use of such compound in a treatment of an individual having a cardiac disorder. The invention further provides a kit that can be used to detect specific mutations in calmodulin encoding genes. | ||||||
| 3 | MUTATIONS IN CALMODULIN GENES | EP13716780.5 | 2013-04-12 | EP2836509A1 | 2015-02-18 | OVERGAARD, Michael Toft; NYEGAARD, Mette; BØRGLUM, Anders |
| The present invention relates to an isolated polynucleotide encoding at least a part of calmodulin and an isolated polypeptide comprising at least a part of a calmodulin protein, wherein the polynucleotide and the polypeptide comprise at least one mutation associated with a cardiac disorder. The present invention also relates to a method for determining whether an individual has an increased risk of contracting a cardiac disorder, a method for diagnosing a cardiac disorder, method for treatment of an individual having a cardiac disorder, method for identifying a compound, capable of enhancing the binding of calmodulin to ryanodine receptor 2 and use of such compound in a treatment of an individual having a cardiac disorder. The invention further provides a kit that can be used to detect specific mutations in calmodulin encoding genes. | ||||||
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