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1. 发明申请

WO0208381A3 COMMON POLYMORPHISM IN SCN5A IMPLICATED IN DRUG-INDUCED CARDIAC ARRHYTHMIA 审中-公开
标题翻译：药物诱导性心脏病患者SCN5A中的共同多态性
公开(公告)号：WO0208381A3
公开(公告)日：2003-08-07
申请号：PCT/US0122639
申请日：2001-07-19
申请人： UNIV UTAH RES FOUND , KEATING MARK T , SPLAWSKI IGOR
发明人： KEATING MARK T , SPLAWSKI IGOR
IPC分类号： A01K67/027 , C07K14/47 , C07K14/705 , C07K16/18 , C12N1/15 , C12N1/19 , C12N1/21 , C12N5/02 , C12N5/10 , C12N15/09 , C12P21/08 , C12Q1/02 , C12Q1/68 , G01N27/00 , G01N27/447 , G01N33/15 , G01N33/50 , G01N33/53 , G01N33/566 , C12N15/85
CPC分类号： C07K14/705 , A01K2217/05 , C07K14/47 , C12Q1/6883 , C12Q2600/156
摘要： The present invention is directed to a specific mutation in SCN5A which causes drug-induced torsade de pointes or ventricular fibrillation. Persons with the mutation are predisposed to developing drug-induced torsade de pointes or ventricular fibrillation when administered certain drugs. This predisposition can be diagnosed in accordance with the present invention by analyzing the DNA sequence of the SCN5A of an individual. By screening patients for the mutation, drug-induced torsade de pointes or ventricular fibrillation can be avoided. Furthermore, drugs can be tested to determine whether they will cause torsade de pointes or ventricular fibrillation.
摘要翻译：本发明涉及导致药物诱发的尖端扭转型室性心动过速或心室颤动的SCN5A中的特异性突变。患有突变的患者倾向于在施用某些药物时开发药物诱发的尖端扭转型室性心律失常或心室颤动。通过分析个体的SCN5A的DNA序列，可以根据本发明诊断该倾向。通过筛选患者的突变，可以避免药物诱发的尖端扭转型室颤或心室颤动。此外，可以测试药物以确定它们是否会引起尖端扭转型室性心动过速或心室颤动。

2. 发明申请

WO0050068A3 ELASTIN-BASED COMPOSITIONS 审中-公开
标题翻译：基于ELASTIN的组合物
公开(公告)号：WO0050068A3
公开(公告)日：2001-11-15
申请号：PCT/US0002526
申请日：2000-02-28
申请人： UNIV UTAH RES FOUND , KEATING MARK T , LI DEAN Y
发明人： KEATING MARK T , LI DEAN Y
IPC分类号： A61K38/39 , A61L31/04 , A61P9/10 , A61F2/00 , G01N33/50
CPC分类号： A61L31/047 , A61K38/39 , A61L31/043
摘要： The present invention provides screening methods that use organisms or cells that lack function in one or both elastin genes. These methods are useful in identifying drugs for the prevention and treatment of obstructive vascular diseases, such as atherosclerosis, vascular restenosis and transplant arteriopathy. Further, the invention provides pharmaceutical compositions containing elastin-based compositions that are particularly potent regulators of proliferation, differentiation, and migration of smooth muscle cells in vitro and in vivo. These pharmaceutical compositions and related methods are useful in the prevention and treatment of disorders characterized by diminished capacity to regulate smooth muscle cell function.
摘要翻译：本发明提供使用在一种或两种弹性蛋白基因中缺乏功能的生物体或细胞的筛选方法。这些方法可用于鉴定用于预防和治疗阻塞性血管疾病如动脉粥样硬化，血管再狭窄和移植物动脉病变的药物。此外，本发明提供含有基于弹性蛋白的组合物的药物组合物，其是体外和体内平滑肌细胞增殖，分化和迁移的特别有效的调节剂。这些药物组合物和相关方法可用于预防和治疗以减轻调节平滑肌细胞功能的能力为特征的疾病。

3. 发明申请

WO2004047747A3 COMPOSITIONS AND METHODS FOR CELL DEDIFFERENTIATION AND TISSUE REGENERATION 审中-公开
标题翻译：细胞分化和组织再生的组合物和方法
公开(公告)号：WO2004047747A3
公开(公告)日：2004-11-04
申请号：PCT/US0337355
申请日：2003-11-21
申请人： UNIV UTAH RES FOUND , KEATING MARK T , ODELBERG SHANNON J , POSS KENNETH D
发明人： KEATING MARK T , ODELBERG SHANNON J , POSS KENNETH D
IPC分类号： A61K35/56 , A61K38/17 , A61K38/18 , A61K38/48 , A61P17/02 , C12N5/0775 , C12Q1/02 , G01N33/50 , A01N61/00 , A01N63/00 , A61K31/00 , C07H21/02 , C07H21/04 , C07K1/00 , C12N5/00
CPC分类号： G01N33/5023 , A61K38/1706 , A61K38/1709 , A61K38/179 , A61K38/18 , A61K38/1825 , A61K38/1875 , A61K38/45 , A61K38/465 , C12N5/0662 , C12N2500/80 , C12N2501/115 , C12N2501/60 , C12N2506/1323
摘要： The present invention provides methods and compositions to dedifferentiate a cell. The ability of the methods and compositions off the present invention to promote the dedifferentiation of differentiated cells, including terminally differentiated cells, can be used to promote regeneration of tissues and organs in vivo. The ability of the methods and compositions of the present invention to promote the dedifferentiation of differentiated cells, including terminally differentiated cells, can further be used to produce populations of stem or progenitor cells which can be used to promote regeneration of tissues and/or organs damaged by injury or disease. Accordingly, the present invention provides novel methods for the treatment of a wide range of injuries and diseases that affect many diverse cell types.
摘要翻译：本发明提供了去分化细胞的方法和组合物。本发明的方法和组合物促进分化细胞（包括终末分化细胞）去分化的能力可用于促进体内组织和器官的再生。本发明的方法和组合物促进分化细胞（包括终末分化细胞）去分化的能力可进一步用于产生干细胞或祖细胞群，其可用于促进组织和/或器官的再生损伤受伤或疾病。因此，本发明提供了用于治疗影响许多不同细胞类型的多种损伤和疾病的新方法。

4. 发明申请

WO0124681A3 ALTERATIONS IN THE LONG QT SYNDROME GENES KVLQT1 AND SCN5A AND METHODS FOR DETECTING SAME 审中-公开
标题翻译：长QT综合征基因KVLQT1和SCN5A中的改变及其检测方法
公开(公告)号：WO0124681A3
公开(公告)日：2003-05-01
申请号：PCT/US0021660
申请日：2000-08-09
申请人： UNIV UTAH RES FOUND
发明人： KEATING MARK T , SPLAWSKI IGOR
IPC分类号： G01N33/483 , A61P9/02 , C07C209/84 , C07C211/42 , C07K14/47 , C07K16/18 , C12N15/09 , C12P21/08 , C12Q1/42 , C12Q1/68 , G01N33/15 , G01N33/50 , G01N33/53 , G01N33/566 , C07H21/04 , C07K14/00 , C07K16/00 , C12P19/34
CPC分类号： C12Q1/6883 , C07C209/84 , C07C211/42 , C07C2602/10 , C12Q2565/131 , C12Q2600/156
摘要： Long QT Syndrome (LQTS) is a cardiovascular disorder characterized by prolongation of the QT interval on electrocardiogram and presence of syncope, seizures and sudden death. Five genes have been implicated in Romano-Ward syndrome, the autosomal dominant form of LQTS. These genes are KVLQT1, HERG, SCN5A, KCNE1 and KCNE2. Mutations in KVLQT1 and KCNE1 also cause the Jervell and Lange-Nielsen syndrome, a form of LQTS associated with deafness, a phenotypic abnormality inherited in an autosomal recessive fashion. Mutational analyses were used to screen 262 unrelated individuals with LQTS for mutations in the five defined genes. A total of 134 mutations were observed of which eighty were novel.
摘要翻译：长QT综合征（LQTS）是一种心血管疾病，其特征在于心电图延迟QT间期，晕厥，癫痫发作和猝死。罗马诺病综合征中有5个基因涉及LQTS的常染色体显性遗传。这些基因是KVLQT1，HERG，SCN5A，KCNE1和KCNE2。 KVLQT1和KCNE1中的突变也导致Jervell和Lange-Nielsen综合征，这是一种与耳聋相关的LQTS，一种以常染色体隐性遗传的表型异常。突变分析用于筛选262个与LQTS不相关的个体在五个定义的基因中的突变。观察到共有134个突变，其中80个是新的。

5. 发明申请

WO0006199A8 KVLQT1 - A LONG QT SYNDROME GENE 审中-公开
标题翻译： KVLQT1 - 长QT综合征基因
公开(公告)号：WO0006199A8
公开(公告)日：2001-04-12
申请号：PCT/US9910260
申请日：1999-05-12
申请人： UNIV UTAH RES FOUND , GENZYME CORP
发明人： KEATING MARK T , SANGUINETTI MICHAEL C , CURRAN MARK E , LANDES GREGORY M , CONNORS TIMOTHY D , BURN TIMOTHY C , SPLAWSKI IGOR
IPC分类号： A01K67/027 , A61K48/00 , A61P9/06 , C07K14/46 , C07K14/47 , C07K14/705 , C07K16/18 , C12N1/15 , C12N1/19 , C12N1/21 , C12N5/10 , C12N15/09 , C12N15/12 , C12P21/08 , C12Q1/02 , C12Q1/68 , G01N33/15 , G01N33/50 , G01N33/53 , G01N33/566 , G01N33/577 , G01N33/58 , G01N33/68 , A61K39/395 , A01N37/18 , C07H21/02 , C12N5/00 , C12N15/00
CPC分类号： C07K14/47 , A01K2217/05 , A61K48/00 , C07K14/705 , C12Q1/6883 , C12Q2600/156 , C12Q2600/158 , C12Q2600/172
摘要： The genomic structure including the sequence of the intron/exon junctions is disclosed for KVLQT1 and KCNE1 which are genes associated with long QT syndrome. Additional sequence data for the two genes are also disclosed. Also disclosed are newly found mutations in KVLQT1 which result in long QT syndrome. The intron/exon junction sequence data allow for the design of primer pairs to amplify and sequence across all of the exons of the two genes. This can be used to screen persons for the presence of mutations which cause long QT syndrome. Assays can be performed to screen persons for the presence of mutations in either the DNA or proteins. The DNA and proteins may also be used in assays to screen for drugs which will be useful in treating or preventing the occurrence of long QT syndrome.
摘要翻译：包括与长QT综合征相关的基因的KVLQT1和KCNE1的内含子/外显子连接序列的基因组结构公开。还公开了两种基因的附加序列数据。还公开了KVLQT1中新发现的突变，导致长QT综合征。内含子/外显子连接序列数据允许设计引物对以扩增和序列两个基因的所有外显子。这可以用于筛选造成长QT综合征的突变的存在。可以进行检测以筛选人们在DNA或蛋白质中存在突变。 DNA和蛋白质也可用于筛选可用于治疗或预防长QT综合征发生的药物的测定中。

6. 发明申请

WO9423638A2 DIAGNOSIS AND TREATMENT OF SUPRAVALVULAR AORTIC STENOSIS AND WILLIAMS SYNDROME 审中-公开
标题翻译：诊断和治疗非典型性异常性狭窄症和威尔斯综合征
公开(公告)号：WO9423638A2
公开(公告)日：1994-10-27
申请号：PCT/US9403426
申请日：1994-04-04
申请人： UNIV UTAH RES FOUND , UNIV COMMUNITY COLLEGE SYS NEV
发明人： KEATING MARK T , LEPPERT MARK F , MORRIS COLLEEN A
IPC分类号： G01N33/53 , A61B17/22 , A61K31/00 , C07K14/78 , C12N15/09 , C12Q1/68 , G01N33/566
CPC分类号： C12Q1/6883 , A61B17/22 , A61K31/00 , C07K14/78 , C12Q1/6841 , C12Q2600/156 , C12Q2600/172 , Y10S435/968 , Y10T436/143333
摘要： The invention relates to the identification of the molecular basis of supravalvular aortic stenosis (SVAS) and Williams syndrome. More specifically, the invention has identified that elastin causes or is involved in the pathogenesis of SVAS and Williams syndrome. Molecular variants of the elastin gene contribute to SVAS and Williams syndrome. The analysis of the elastin gene will provide an early diagnosis of subjects with SVAS and Williams syndrome. The diagnostic method comprises analyzing the DNA sequence of the elastin gene of an individual to be tested and comparing it with the DNA sequence of the native, non-variant elastin gene. In a second embodiment, the elastin gene of an individual to be tested is screened for mutations associated with SVAS or Williams syndrome. Presymptomatic diagnosis of SVAS and Williams syndrome will enable practitioners to prevent vascular obstruction using existing medical therapies like beta adrenergic blocking agents.
摘要翻译：本发明涉及冠状动脉瓣主动脉瓣狭窄（SVAS）和威廉姆斯综合征的分子基础鉴定。更具体地，本发明已经确定弹性蛋白引起或参与SVAS和Williams综合征的发病机理。弹性蛋白基因的分子变体有助于SVAS和Williams综合征。弹性蛋白基因的分析将提供SVAS和Williams综合征患者的早期诊断。诊断方法包括分析待测个体弹性蛋白基因的DNA序列，并将其与天然非变性弹性蛋白基因的DNA序列进行比较。在第二个实施方案中，筛选待测个体的弹性蛋白基因与SVAS或Williams综合征相关的突变。 SVAS和Williams综合征的症状性诊断将使实践者能够使用现有的医学疗法（如β肾上腺素能阻断剂）预防血管阻塞。

7. 发明申请

WO0124681A9 ALTERATIONS IN THE LONG QT SYNDROME GENES KVLQT1 AND SCN5A AND METHODS FOR DETECTING SAME 审中-公开
标题翻译：长QT综合征基因KVLQT1和SCN5A中的改变及其检测方法
公开(公告)号：WO0124681A9
公开(公告)日：2002-09-06
申请号：PCT/US0021660
申请日：2000-08-09
申请人： UNIV UTAH RES FOUND
发明人： KEATING MARK T , SPLAWSKI IGOR
IPC分类号： G01N33/483 , A61P9/02 , C07C209/84 , C07C211/42 , C07K14/47 , C07K16/18 , C12N15/09 , C12P21/08 , C12Q1/42 , C12Q1/68 , G01N33/15 , G01N33/50 , G01N33/53 , G01N33/566 , A61B
CPC分类号： C12Q1/6883 , C07C209/84 , C07C211/42 , C07C2602/10 , C12Q2565/131 , C12Q2600/156
摘要： Long QT Syndrome (LQTS) is a cardiovascular disorder characterized by prolongation of the QT interval on electrocardiogram and presence of syncope, seizures and sudden death. Five genes have been implicated in Romano-Ward syndrome, the autosomal dominant form of LQTS. These genes are KVLQT1, HERG, SCN5A, KCNE1 and KCNE2. Mutations in KVLQT1 and KCNE1 also cause the Jervell and Lange-Nielsen syndrome, a form of LQTS associated with deafness, a phenotypic abnormality inherited in an autosomal recessive fashion. Mutational analyses were used to screen 262 unrelated individuals with LQTS for mutations in the five defined genes. A total of 134 mutations were observed of which eighty were novel.
摘要翻译：长QT综合征（LQTS）是一种心血管疾病，其特征在于心电图延迟QT间期，晕厥，癫痫发作和猝死。罗马诺病综合征中有5个基因涉及LQTS的常染色体显性遗传。这些基因是KVLQT1，HERG，SCN5A，KCNE1和KCNE2。 KVLQT1和KCNE1中的突变也导致Jervell和Lange-Nielsen综合征，这是一种与耳聋相关的LQTS，一种以常染色体隐性遗传的表型异常。突变分析用于筛选262个与LQTS不相关的个体在五个定义的基因中的突变。观察到共有134个突变，其中80个是新的。

8. 发明申请

WO9801740A3 Diagnosis of Williams syndrome cognitive profile by analysis of a LIM-kinase gene 审中-公开
标题翻译：通过LIM-kinase基因的分析诊断威廉姆斯综合征认知情况
公开(公告)号：WO9801740A3
公开(公告)日：1998-02-12
申请号：PCT/US9711687
申请日：1997-07-07
申请人： UNIV UTAH RES FOUND
发明人： KEATING MARK T , MORRIS COLLEEN A
IPC分类号： A61B17/22 , A61K31/00 , C07K14/78 , C12Q1/68 , G01N33/00
CPC分类号： A61K31/00 , A61B17/22 , C07K14/78 , C12Q1/6827 , C12Q1/6841 , C12Q1/6883 , C12Q2600/156 , C12Q2600/158
摘要： Williams syndrome (WS) is a developmental disorder that includes poor visuospatial constructive cognition. This syndrome has been studied to identify genes important for human cognitive development. Two families are described which have a partial WS phenotype; affected members have the specific WS cognitive profile and vascular disease, but lack other WS features. Submicroscopic chromosome 7q11.23 deletions cosegregate with this phenotype in both families. DNA sequence analyses of the region affected by the smallest (63.6 kb) deletion revealed two genes, elastin (ELN) and LIM-kinase 1 (LIMK1). The latter encodes a novel protein kinase with LIM domains and is strongly expressed in the brain. Because ELN mutations cause vascular disease but not cognitive abnormalities, these data implicate LIMK1 hemizygosity in impaired visuospatial constructive cognition.

9. 发明申请

WO9723598A2 KVLQT1 - A LONG QT SYNDROME GENE WHICH ENCODES KVLQT1 WHICH COASSEMBLES WITH minK TO FORM CARDIAC IKs POTASSIUM CHANNELS 审中-公开
标题翻译： KVLQT1 - 长QT综合征基因编码KVLQT1，其中包含mink到形式的心脏IKs钾通道
公开(公告)号：WO9723598A2
公开(公告)日：1997-07-03
申请号：PCT/US9619756
申请日：1996-12-20
申请人： UNIV UTAH RES FOUND
发明人： KEATING MARK T , SANGUINETTI MICHAEL C , CURRAN MARK E
IPC分类号： G01N33/50 , A01K67/027 , A61K45/00 , A61K48/00 , C07H21/00 , C07K14/00 , C07K14/46 , C07K14/47 , C07K14/705 , C07K16/18 , C07K16/28 , C12N1/15 , C12N1/19 , C12N1/21 , C12N5/10 , C12N15/09 , C12N15/12 , C12P21/02 , C12Q1/68 , G01N33/53 , G01N33/566 , C12N , G01N
CPC分类号： C07K14/47 , A01K2217/05 , A61K48/00 , C07K14/705
摘要： One aspect of the invention relates to the identification of the molecular basis of long QT syndrome. More specifically, the invention has identified that minK coassembles with KVQLT1 to form a cardiac potassium channel. Thus, it has been discovered that mutated minK causes long QT syndrome. The analysis of this gene will provide an early diagnosis of subjects with long QT syndrome. The diagnostic methods comprise analyzing the nucleic acid sequence of the minK gene of an individual to be tested and comparing them with the nucleic acid sequence of the native, non-variant gene. Alternatively, the amino acid sequence of minK may be analyzed for mutations which cause long QT syndrome. Presymptomatic diagnosis of long QT syndrome will enable practitioners to treat this disorder using existing medical therapy. A second aspect of the invention relates to assays for drugs which interact with the cardiac potassium channel to identify new drugs which are useful for treating or preventing long QT.
摘要翻译：本发明的一个方面涉及长QT综合征的分子基础的鉴定。更具体地说，本发明已经确定minK与KVQLT1组装形成心脏钾通道。因此，已经发现突变的minK引起长QT综合征。该基因的分析将为长期QT综合征患者提供早期诊断。诊断方法包括分析待测试个体的minK基因的核酸序列，并将其与天然非变异基因的核酸序列进行比较。或者，可以分析导致长QT综合征的突变的minK的氨基酸序列。长期QT综合征的症状诊断将使实践者能够使用现有的药物治疗来治疗这种疾病。本发明的第二方面涉及与心脏钾通道相互作用以鉴定可用于治疗或预防长QT的新药物的药物测定。

10. 发明申请

WO2006118914A2 METHODS OF INCREASING PROLIFERATION OF ADULT MAMMALIAN CARDIOMYOCYTES THROUGH P38 MAP KINASE INHIBITION 审中-公开
标题翻译：通过P38 MAP激酶抑制来增加成年雄性大鼠心肌细胞增殖的方法
公开(公告)号：WO2006118914A2
公开(公告)日：2006-11-09
申请号：PCT/US2006015867
申请日：2006-04-28
申请人： CHILDRENS MEDICAL CENTER , KEATING MARK T , ENGEL FELIX B
发明人： KEATING MARK T , ENGEL FELIX B
CPC分类号： A61K31/17 , A61K31/4412 , A61K31/4418 , A61K38/1825 , A61K2300/00
摘要： Compositions and methods for increasing proliferation and/or de-differentiatio of postmitotic mammalian cardiomyocytes are disclosed to slow, reduce, or prevent the onset of cardiac damage. In addition, the methods and compositions of the invention c used to produce de-differentiated cardiomyocytes, which can then be used in tissue grafting, implantation or transplantation. The invention is based, in part, on the discovery that postmitotic mammalian cardiomyocytes can proliferate as a result of targeted disruption of p38 MAP kinase. P38 inhibition with optional growth factor stimulation can induce cytokinesis in adult cardiomyocytes.
摘要翻译：公开了用于增加postmitotic哺乳动物心肌细胞的增殖和/或去差异的组合物和方法，以减缓，减少或预防心脏损伤的发作。此外，用于产生脱分化心肌细胞的本发明c的方法和组合物，其可以用于组织移植，植入或移植。本发明部分地基于以下发现，即由于p38MAP激酶的靶向破坏的结果，postmitotic哺乳动物心肌细胞可以增殖。 P38抑制与任选的生长因子刺激可诱导成体心肌细胞的细胞分裂。

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