Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. - Wikidata - awgldk - TriplyDB

Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections.

Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections.

http://www.wikidata.org/entity/Q35234874

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A Case Based Approach to Clinical Genetics of Thoracic Aortic Aneurysm/Dissection.Molecular and Genetic Insights into Thoracic Aortic Dilation in Conotruncal Heart Defects Associations Between TGFA/TGFB3/MSX1 Gene Polymorphisms and Congenital Non-Syndromic Hearing Impairment in a Chinese Population.NOTCH 1 Mutation in a Patient with Spontaneous and Recurrent Dissections of Extracranial Arteries.Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor.SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections.Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches.Genetic testing of 248 Chinese aortopathy patients using a panel assay.Hereditary Influence in Thoracic Aortic Aneurysm and Dissection.Genome-wide compendium and functional assessment of in vivo heart enhancers.Smooth muscle cell-specific Tgfbr1 deficiency promotes aortic aneurysm formation by stimulating multiple signaling events.Defective Connective Tissue Remodeling in Smad3 Mice Leads to Accelerated Aneurysmal Growth Through Disturbed Downstream TGF-β Signaling MMP-2 gene polymorphisms are associated with type A aortic dissection and aortic diameters in patients.A missense TGFB2 variant p.(Arg320Cys) causes a paradoxical and striking increase in aortic TGFB1/2 expression.Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections.Genetics of hereditary large vessel diseases.The genetics and pathogenesis of thoracic aortic aneurysm disorder and dissections.Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery.TGF-β and the TGF-β Family: Context-Dependent Roles in Cell and Tissue Physiology.Altered Smooth Muscle Cell Force Generation as a Driver of Thoracic Aortic Aneurysms and Dissections.Pathophysiology of aortic aneurysm: insights from human genetics and mouse models.Aetiology and management of hereditary aortopathy.Reflections on my daughter's DNA.TGF-β Family Signaling in Connective Tissue and Skeletal Diseases.Cardiovascular surgery in Loeys-Dietz syndrome types 1-4.Increased Prevalence of Inflammatory Bowel Disease in Patients with Mutations in Genes Encoding the Receptor Subunits for TGFβ.Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys-Dietz syndrome (LDS) impairs canonical TGF-β signaling Genes Associated with Thoracic Aortic Aneurysm and Dissection: An Update and Clinical Implications.MMP17/MT4-MMP and thoracic aortic aneurysms: OPNing new potential for effective treatment.Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome.The diagnostic value of microRNA-4787-5p and microRNA-4306 in patients with acute aortic dissection.Transforming Growth Factor-β1 Inhibits Pseudoaneurysm Formation After Aortic Patch Angioplasty.Thoracic aortic aneurysm: unlocking the "silent killer" secrets.Insight into the molecular genetics of myopia.A mutation update on the LDS associated genes TGFB2/3 and SMAD2/3.High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.Notch1 haploinsufficiency causes ascending aortic aneurysms in mice.An HDAC9-MALAT1-BRG1 complex mediates smooth muscle dysfunction in thoracic aortic aneurysm.Inhibition of the methyltranferase EZH2 improves aortic performance in experimental thoracic aortic aneurysm.Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.

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Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections.

http://www.wikidata.org/entity/Q35234874

description

2015 nî lūn-bûn

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2015 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

2015 թվականի ապրիլին հրատարակված գիտական հոդված

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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name

Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections.

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Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections.

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type

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Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections.

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Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections.

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prefLabel

Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections.

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Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections.

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Journal of the American College of Cardiology

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Aida M Bertoli-Avella

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Alexander J Doyle

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Annelies de Klein

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Berna Beverloo

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Emeline M Van Craenenbroeck

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P2860

Predicting deleterious amino acid substitutions

An integrated map of genetic variation from 1,092 human genomes

The integrin alphavbeta3 is a receptor for the latency-associated peptides of transforming growth factors beta1 and beta3

Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome

Interactions between growth factors and integrins: latent forms of transforming growth factor-beta are ligands for the integrin alphavbeta1

Latent TGF-β structure and activation

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

Aneurysm syndromes caused by mutations in the TGF-beta receptor

TGFβ signalling in context

Abnormal lung development and cleft palate in mice lacking TGF-beta 3 indicates defects of epithelial-mesenchymal interaction

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