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公开(公告)号：US20080188449A1
公开(公告)日：2008-08-07
申请号：US11667696
申请日：2005-11-15
IPC分类号： A61K31/585 , A61P13/12 , C12N5/02 , C12Q1/02
CPC分类号： A61K31/366
摘要： In certain aspects, the invention relates to use of PKD2 agonists, such as triptolide and triptolide derivatives, to regulate calcium release. In other aspects, the invention relates to use of PKD2 agonists to treat or aid in the treatment of any condition in which a calcium channel, such as the gene product of PKD 1 and/or PKD2, is mutated; calcium signaling is abnormal; or both, such as polycystic kidney disease.
摘要翻译： 在某些方面，本发明涉及使用PKD2激动剂，例如雷公藤内酯和雷公藤内酯衍生物来调节钙的释放。 在其它方面，本发明涉及PKD2激动剂用于治疗或帮助治疗其中钙通道（例如PKD1和/或PKD2的基因产物）突变的任何病症的用途; 钙信号异常; 或两者，如多囊肾病。
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公开(公告)号：US20080063601A1
公开(公告)日：2008-03-13
申请号：US11716980
申请日：2007-03-12
申请人： Stefan Somlo , Craig Crews , Stephanie Quinn , Dayne Okuhara
发明人： Stefan Somlo , Craig Crews , Stephanie Quinn , Dayne Okuhara
CPC分类号： G01N33/5041 , A61K31/00 , G01N33/6872 , G01N2333/705 , G01N2800/347
摘要： Described herein are therapeutic strategies (methods and compositions) useful for treating conditions in which cilia are affected and which manifest with cysts and/or fibrosis, such as conditions in which the kidney, pancreas, liver and/or spleen are affected and contain cysts. Particular embodiments described herein are therapeutic strategies in which PC-2 agonists, particularly agonists (calcium channel agonists) that target PC-2 directly and/or selectively, are administered to individuals with mutations in PKD1, in order to alter the course of polycystic kidney disease, particularly ADPKD. In specific embodiments, the invention relates to use of PC-2 agonists triptolide and triptolide derivatives to regulate calcium release. In other aspects, the invention relates to use of PC-2 agonists to treat or aid in the treatment of any condition in which a calcium channel, such as the gene product of PKD1 and/or PKD2, is mutated; calcium signaling is abnormal; or both.
摘要翻译： 本文描述了治疗策略（方法和组合物），其可用于治疗其中纤毛受到影响并且表现为囊肿和/或纤维化的病症的病症，例如肾脏，胰腺，肝脏和/或脾脏受影响并含有囊肿的病症。 本文描述的具体实施方案是其中将靶向PC-2直接和/或选择性的PC-2激动剂，特别是激动剂（钙通道激动剂）施用于具有PKD1突变的个体的治疗策略，以便改变多囊肾的过程 疾病，特别是ADPKD。 在具体实施方案中，本发明涉及PC-2激动剂雷公藤内酯和雷公藤内酯衍生物调节钙释放的用途。 在其它方面，本发明涉及PC-2激动剂用于治疗或辅助治疗其中钙通道（例如PKD1和/或PKD2的基因产物）突变的任何病症的用途; 钙信号异常; 或两者。
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公开(公告)号：US06228591B1
公开(公告)日：2001-05-08
申请号：US09385752
申请日：1999-08-30
申请人： Stefan Somlo , Toshio Mochizuki
发明人： Stefan Somlo , Toshio Mochizuki
IPC分类号： C12Q168
CPC分类号： C12Q1/6886 , C07K14/47 , C12Q2600/156 , C12Q2600/172
摘要： The present invention provides a purified and isolated wild type PKD2 gene, as well as mutated forms of this gene. The present invention also provides one or more single-stranded nucleic acid probes which specifically hybridize to the wild type PKD2 gene or the mutated PKD2 gene, and mixtures thereof, which may be formulated in kits, and used in the diagnosis of ADPKD associated with the mutated PKD2 gene. The present invention also provides a method for diagnosing ADPKD caused by a mutated PKD2 gene, as well as a method for treating autosomal dominant polycystic kidney disease caused by a mutated PKD2 gene.
摘要翻译： 本发明提供纯化和分离的野生型PKD2基因以及该基因的突变形式。 本发明还提供了与野生型PKD2基因或突变型PKD2基因特异性杂交的一种或多种单链核酸探针及其混合物，其可以配制在试剂盒中，并用于诊断与其相关的ADPKD 突变PKD2基因。 本发明还提供了用于诊断由突变PKD2基因引起的ADPKD的方法，以及由突变的PKD2基因引起的常染色素显性多囊肾病的治疗方法。
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公开(公告)号：US20080057506A1
公开(公告)日：2008-03-06
申请号：US11823102
申请日：2007-06-26
申请人： Stefan Somlo , Toshio Mochizuki
发明人： Stefan Somlo , Toshio Mochizuki
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6886 , C07K14/47 , C12Q2600/156 , C12Q2600/172
摘要： The present invention provides a purified and isolated wild type PKD2 gene, as well as mutated forms of this gene. The present invention also provides one or more single-stranded nucleic acid probes which specifically hybridize to the wild type PKD2 gene or the mutated PKD2 gene, and mixtures thereof, which may be formulated in kits, and used in the diagnosis of ADPKD associated with the mutated PKD2 gene. The present invention also provides a method for diagnosing ADPKD caused by a mutated PKD2 gene, as well as a method for treating autosomal dominant polycystic kidney disease caused by a mutated PKD2 gene.
摘要翻译： 本发明提供纯化和分离的野生型PKD2基因以及该基因的突变形式。 本发明还提供了与野生型PKD2基因或突变型PKD2基因特异性杂交的一种或多种单链核酸探针及其混合物，其可以配制在试剂盒中，并用于诊断与其相关的ADPKD 突变PKD2基因。 本发明还提供了用于诊断由突变PKD2基因引起的ADPKD的方法，以及由突变的PKD2基因引起的常染色素显性多囊肾病的治疗方法。
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公开(公告)号：US07294465B2
公开(公告)日：2007-11-13
申请号：US11040384
申请日：2005-01-21
申请人： Stefan Somlo , Toshio Mochizuki
发明人： Stefan Somlo , Toshio Mochizuki
CPC分类号： C12Q1/6886 , C07K14/47 , C12Q2600/156 , C12Q2600/172
摘要： The present invention provides a purified and isolated wild type PKD2 gene, as well as mutated forms of this gene. The present invention also provides one or more single-stranded nucleic acid probes which specifically hybridize to the wild type PKD2 gene or the mutated PKD2 gene, and mixtures thereof, which may be formulated in kits, and used in the diagnosis of ADPKD associated with the mutated PKD2 gene. The present invention also provides a method for diagnosing ADPKD caused by a mutated PKD2 gene, as well as a method for treating autosomal dominant polycystic kidney disease caused by a mutated PKD2 gene.
摘要翻译： 本发明提供纯化和分离的野生型PKD2基因以及该基因的突变形式。 本发明还提供了与野生型PKD2基因或突变型PKD2基因特异性杂交的一种或多种单链核酸探针及其混合物，其可以配制在试剂盒中，并用于诊断与其相关的ADPKD 突变PKD2基因。 本发明还提供了用于诊断由突变PKD2基因引起的ADPKD的方法，以及由突变的PKD2基因引起的常染色素显性多囊肾病的治疗方法。
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公开(公告)号：US07083915B2
公开(公告)日：2006-08-01
申请号：US09753008
申请日：2001-01-02
申请人： Stefan Somlo , Toshio Mochizuki
发明人： Stefan Somlo , Toshio Mochizuki
CPC分类号： C12Q1/6886 , C07K14/47 , C12Q2600/156 , C12Q2600/172
摘要： The present invention provides a purified and isolated wild type PKD2 gene, as well as mutated forms of this gene. The present invention also provides one or more single-stranded nucleic acid probes which specifically hybridize to the wild type PKD2 gene or the mutated PKD2 gene, and mixtures thereof, which may be formulated in kits, and used in the diagnosis of ADPKD associated with the mutated PKD2 gene. The present invention also provides a method for diagnosing ADPKD caused by a mutated PKD2 gene, as well as a method for treating autosomal dominant polycystic kidney disease caused by a mutated PKD2 gene.
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公开(公告)号：US20050170399A1
公开(公告)日：2005-08-04
申请号：US11040384
申请日：2005-01-21
申请人： Stefan Somlo , Toshio Mochizuki
发明人： Stefan Somlo , Toshio Mochizuki
CPC分类号： C12Q1/6886 , C07K14/47 , C12Q2600/156 , C12Q2600/172
摘要： The present invention provides a purified and isolated wild type PKD2 gene, as well as mutated forms of this gene. The present invention also provides one or more single-stranded nucleic acid probes which specifically hybridize to the wild type PKD2 gene or the mutated PKD2 gene, and mixtures thereof, which may be formulated in kits, and used in the diagnosis of ADPKD associated with the mutated PKD2 gene. The present invention also provides a method for diagnosing ADPKD caused by a mutated PKD2 gene, as well as a method for treating autosomal dominant polycystic kidney disease caused by a mutated PKD2 gene.
摘要翻译： 本发明提供纯化和分离的野生型PKD2基因以及该基因的突变形式。 本发明还提供了与野生型PKD2基因或突变型PKD2基因特异性杂交的一种或多种单链核酸探针及其混合物，其可以配制在试剂盒中，并用于诊断与其相关的ADPKD 突变PKD2基因。 本发明还提供了用于诊断由突变PKD2基因引起的ADPKD的方法，以及由突变的PKD2基因引起的常染色素显性多囊肾病的治疗方法。
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公开(公告)号：US06031088A
公开(公告)日：2000-02-29
申请号：US651999
申请日：1996-05-23
申请人： Stefan Somlo , Toshio Mochizuki
发明人： Stefan Somlo , Toshio Mochizuki
CPC分类号： C12Q1/6886 , C07K14/47 , C12Q2600/156 , C12Q2600/172
摘要： The present invention provides a purified and isolated wild type PKD2 gene, as well as mutated forms of this gene. The present invention also provides one or more single-stranded nucleic acid probes which specifically hybridize to the wild type PKD2 gene or the mutated PKD2 gene, and mixtures thereof, which may be formulated in kits, and used in the diagnosis of ADPKD associated with the mutated PKD2 gene. The present invention also provides a method for diagnosing ADPKD caused by a mutated PKD2 gene, as well as a method for treating autosomal dominant polycystic kidney disease caused by a mutated PKD2 gene.
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