Endoglin and alk1 as therapeutic targets for hereditary hemorrhagic telangiectasia

Ruiz-Llorente Lidia; Gallardo-Vara Eunate; Rossi Elisa; Smadja David M.; Botella Luisa M.; Bernabeu Carmelo

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Endoglin and alk1 as therapeutic targets for hereditary hemorrhagic telangiectasia

机译：endoglan和Alk1作为遗传性出血性毛细管扩张的治疗目标

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Introduction: Hereditary Haemorrhagic Telangiectasia (HHT) is as an autosomal dominant trait characterized by frequent nose bleeds, mucocutaneous telangiectases, arteriovenous malformations (AVMs) of the lung, liver and brain, and gastrointestinal bleedings due to telangiectases. HHT is originated by mutations in genes whose encoded proteins are involved in the transforming growth factor beta (TGF-beta) family signalling of vascular endothelial cells. In spite of the great advances in the diagnosis as well as in the molecular, cellular and animal models of HHT, the current treatments remain just at the palliative level.

机译：介绍：遗传性出血性TelangiectaIa（HHT）作为常染色体显性特征，其特征在于频繁的鼻子出血，粘膜皮肤病酶，肺癌，肝癌的动静脉畸形（AVMS），以及由于Telangiectase引起的胃肠出血。 HHT起源于基因中的突变，其编码蛋白参与转化的生长因子β（TGF-Beta）血管内皮细胞的家族信号传导。尽管诊断的巨大进展以及HHT的分子，细胞和动物模型，目前的治疗仍然只是在姑息水平。

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《Expert opinion on therapeutic targets》 |2017年第12期|共15页
作者
Ruiz-Llorente Lidia; Gallardo-Vara Eunate; Rossi Elisa; Smadja David M.; Botella Luisa M.; Bernabeu Carmelo;
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作者单位

CSIC Ctr Invest Biol Ramiro de Maeztu 9 Madrid 28040 Spain;

CSIC Ctr Invest Biol Ramiro de Maeztu 9 Madrid 28040 Spain;

Paris Descartes Univ Fac Pharm Sorbonne Paris Cite Paris France;

Paris Descartes Univ Fac Pharm Sorbonne Paris Cite Paris France;

CSIC Ctr Invest Biol Ramiro de Maeztu 9 Madrid 28040 Spain;

CSIC Ctr Invest Biol Ramiro de Maeztu 9 Madrid 28040 Spain;

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原文格式 PDF
正文语种 eng
中图分类药学;
关键词
HHT; endoglin; ALK1; haploinsufficiency; bleeding; angiogenesis; AVM; bevacizumab; thalidomide;

机译：hht;endoglan;Alk1;臭氧水能;出血;血管生成;AVM;Bevacizumab;沙利度胺;

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1. Endoglin and alk1 as therapeutic targets for hereditary hemorrhagic telangiectasia (vol 20, pg 1, 2017) [J] . Ruiz-Llorente L., Gallardo-Vara E., Rossi E. Expert opinion on therapeutic targets . 2017,第7a12期

机译：endoglin和Alk1作为遗传性出血性胞菌疾病的治疗目标（Vol 20，PG 1，2017）
2. Endoglin and alk1 as therapeutic targets for hereditary hemorrhagic telangiectasia [J] . Ruiz-Llorente Lidia, Gallardo-Vara Eunate, Rossi Elisa, Expert opinion on therapeutic targets . 2017,第7a12期

机译：endoglan和Alk1作为遗传性出血性毛细管扩张的治疗目标
3. Distinct angiostatic lung profile in endoglin and ALK1 mouse models of hereditary hemorrhagic telangiectasia [J] . Ardelean Daniela S., Jerkic Mirjana, Peter Madonna, Angiogenesis . 2015,第4期

机译：在遗传性出血性毛细血管扩张的内皮糖蛋白和ALK1小鼠模型中不同的血管抑制性肺轮廓
4. Automatic detection and quantification of pulmonary arterio-venous malformations in hereditary hemorrhagic telangiectasia [C] . Catalin Fetita, Thierry Fortemps de Loneux, Amele Florence Kouvahe, Conference on Computer-Aided Diagnosis . 2017

机译：遗传性出血性毛细血管扩张症中肺动静脉畸形的自动检测和定量
5. Genotypic/phenotypic analysis of endothelial progenitor cells in idiopathic pulmonary arterial hypertension and hereditary hemorrhagic telangiectasia [D] . Zucco, Liana V. 2006

机译：特发性肺动脉高压和遗传性出血性毛细血管扩张症中内皮祖细胞的基因型/表型分析
6. Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations [O] . J Berg, M Porteous, D Reinhardt, 2003

机译：遗传性出血性毛细血管扩张：基于问卷的研究描绘了内皮糖蛋白和ALK1突变引起的不同表型
7. Endoglin and alk1 as therapeutic targets for hereditary hemorrhagic telangiectasia [O] . Ruiz-Llorente, Lidia, Gallardo-Vara, Eunate, Rossi, Elisa, 2017

机译：内皮糖蛋白和alk1作为遗传性出血性毛细血管扩张的治疗靶标

Endoglin and alk1 as therapeutic targets for hereditary hemorrhagic telangiectasia

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