首页> 外国专利> METHODS FOR THE DIAGNOSIS AND THE TREATMENT OF FAMILIAL THORACIC AORTIC ANEURYSMS CAUSED BY TGFB2 LOSS OF FUNCTION MUTATIONS

METHODS FOR THE DIAGNOSIS AND THE TREATMENT OF FAMILIAL THORACIC AORTIC ANEURYSMS CAUSED BY TGFB2 LOSS OF FUNCTION MUTATIONS

机译：TGFB2功能改变引起的家族性胸主动脉瘤的诊断和治疗方法

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摘要

The present invention relates to methods for the diagnosis and the treatment of familial thoracic aortic aneurysms caused by TGFB2 loss of function mutations. More particularly, the present invention relates to a method for determining whether a subject is predisposed to thoracic aortic aneurysms comprising detecting a TGFB2 loss of function mutation wherein the presence of the mutation indicated that the subject is predisposed to thoracic aortic aneurysms. The present invention also relates to a transforming growth factor beta-2 (TGF-&bgr;2) polypeptide for use in the prophylactic treatment of a subject who has been considered as predisposed to thoracic aortic aneurysms by the method of the invention (i.e. a subject having one TGB2 loss of function mutation according to the invention).

机译：本发明涉及诊断和治疗由TGFB2功能丧失突变引起的家族性胸主动脉瘤的方法。更具体地，本发明涉及一种确定受试者是否易患胸主动脉瘤的方法，该方法包括检测TGFB2功能丧失突变，其中突变的存在表明该受试者易患胸主动脉瘤。本发明还涉及用于预防性治疗受试者的转化生长因子β-2（TGF-β2）多肽，该受试者被本发明的方法认为易患胸主动脉瘤（即受试者）。（具有根据本发明的一个TGB2功能丧失突变）。

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公开/公告号EP2850207A1

专利类型
公开/公告日2015-03-25

原文格式PDF
申请/专利权人 INSTITUT NATIONAL DE LA SANTÉ ET DE LA RECHERCHE MÉDICALE (INSERM);UNIVERSITÉ PARIS DIDEROT - PARIS 7;UNIVERSITÉ DE VERSAILLES SAINT-QUENTIN-EN-YVELINES;UNIVERSITE PARIS 13 PARIS NORD;ASSISTANCE PUBLIQUE-HÔPITAUX DE PARIS;BOARD OF REGENTS OF THE UNIVERSITY OF TEXAS SYSTEM;
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申请/专利号EP20130725930
发明设计人 MILEWICZ DIANNA;BOILEAU CATHERINE;JONDEAU GUILLAUME;
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申请日2013-05-15
分类号C12Q1/68;
国家 EP
入库时间 2022-08-21 15:03:11

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8. 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Vascular304Mitophagy acts as a safeguard mechanism against human vascular smooth muscle cell apoptosis induced by atherogenic lipidsTranscriptional control and RNA species - Vascular307MicroRNA-34a role in vascular calcification308Local delivery of a miR-146a inhibitor utilizing a clinically applicable approach attenuates neointima formation after vascular injury309Long noncoding RNA landscape of hypoxic endothelial cells310Specific circulating microRNAs levels associate with hypertension, hyperglycemia and dysfunctional HDL in acute coronary syndrome patientsCytokines and cellular inflammation - Vascular313Phosphodiesterase5A up-regulation in vascular endothelium under pro-inflammatory conditions: a newly disclosed anti-inflammatory activity for the omega-3polyunsaturated aatty acid docosahexaenoic acid314Cardiovascular risk modifying with extra-low dose anticytokine drugs in rhematoid arthritis315Conversion of human M-CSF macrophages into foam cells reduces their proinflammatory responses to classical M1-polarizing activation316Lymphocytic myocarditis coincides with increased plaque inflammation and plaque hemorrhage in coronary arteries, facilitating myocardial infarction317Serum osteoprotegerin level predictsdeclined numerous of circulating endothelial- derived and mononuclear-derived progenitor cells in patients with metabolic syndromeGrowth factors and neurohormones - Vascular320Effect of gastrin-releasing peptide (GRP) on vascular inflammationSignal transduction - Heart323A new synthetic peptide regulates hypertrophy in vitro through means of the inhibition of nfkb324Inducible fibroblast-specific knockout of p38 alpha map kinase is cardioprotective in a mouse model of isoproterenol-induced cardiac hypertrophy325Regulation of beta-adrenoceptor-evoked inotropic responses by inhibitory G protein, adenylyl cyclase isoforms 5 and 6 and phosphodiesterases326Binding to RGS3 and stimulation of M2 muscarinic acetylcholine receptors modulates the substrate specificity of p190RhoGAP in cardiac myocytes327Cardiac regulation of post-translational modifications, parylation and deacetylation in LMNA dilated cardiomyopathy mouse model328Beta-adrenergic regulation of the b56delta/pp2a holoenzyme in cardiac myocytes through b56delta phosphorylation at serine 573Nitric oxide and reactive oxygen species - Vascular331Oxidative stress-induced miR-200c disrupts the regulatory loop among SIRT1, FOXO1 and eNOS332Antioxidant therapy prevents oxidative stress-induced endothelial dysfunction and Enhances Wound Healing333Morphological and biochemical characterization of red blood cell in coronary artery diseaseCytoskeleton and mechanotransduction - 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