标题
Genetics of Thoracic and Abdominal Aortic Diseases
作者
关键词
-
出版物
CIRCULATION RESEARCH
Volume 124, Issue 4, Pages 588-606
出版商
Ovid Technologies (Wolters Kluwer Health)
发表日期
2019-02-15
DOI
10.1161/circresaha.118.312436
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections
- (2018) Dong-chuan Guo et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Variants of Unknown Significance in Genes Associated with Heritable Thoracic Aortic Disease Can Be Low Penetrant “Risk Variants”
- (2018) Callie S. Kwartler et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Thoracic aortic aneurysm in patients with loss of function Filamin A mutations: Clinical characterization, genetics, and recommendations
- (2018) Ming Hui Chen et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Ascending Aortic Aneurysm in a Child With Fibulin-4 Deficiency
- (2018) Makoto Hibino et al. ANNALS OF THORACIC SURGERY
- Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms
- (2018) Kai Li Tan et al. DEVELOPMENTAL CELL
- The miR-182/SORT1 axis regulates vascular smooth muscle cell calcification in vitro and in vivo
- (2018) Zhanman Zhang et al. EXPERIMENTAL CELL RESEARCH
- MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants
- (2018) Stephanie E. Wallace et al. GENETICS IN MEDICINE
- A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3
- (2018) Dorien Schepers et al. HUMAN MUTATION
- Fatal thoracic aortic aneurysm and dissection in a large family with a novel MYLK gene mutation: delineation of the clinical phenotype
- (2018) Adel Shalata et al. Orphanet Journal of Rare Diseases
- Evaluation of the relationship between plasma lipids and abdominal aortic aneurysm: A Mendelian randomization study
- (2018) Lu-Chen Weng et al. PLoS One
- Plasma lipid transfer proteins: The role of PLTP and CETP in atherogenesis
- (2018) Zbyszko Chowaniec et al. Advances in Clinical and Experimental Medicine
- SMYD2 promoter DNA methylation is associated with abdominal aortic aneurysm (AAA) and SMYD2 expression in vascular smooth muscle cells
- (2018) Bradley J. Toghill et al. Clinical Epigenetics
- Genetic Association of Lipids and Lipid Drug Targets With Abdominal Aortic Aneurysm
- (2018) Seamus C. Harrison et al. JAMA Cardiology
- Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection
- (2018) Marjolijn Renard et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Heritable Thoracic Aortic Disease Genes in Sporadic Aortic Dissection
- (2017) Dong-chuan Guo et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Fifteen new risk loci for coronary artery disease highlight arterial-wall-specific mechanisms
- (2017) Joanna M M Howson et al. NATURE GENETICS
- Aortopathy in a Mouse Model of Marfan Syndrome Is Not Mediated by Altered Transforming Growth Factor β Signaling
- (2017) Hao Wei et al. Journal of the American Heart Association
- Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease
- (2017) Pim van der Harst et al. CIRCULATION RESEARCH
- Genetic Variants in LRP1 and ULK4 Are Associated with Acute Aortic Dissections
- (2016) Dong-chuan Guo et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Comparison of three targeted approaches to screening for abdominal aortic aneurysm based on cardiovascular risk
- (2016) G.T. Jones et al. BRITISH JOURNAL OF SURGERY
- Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk LociNovelty and Significance
- (2016) Gregory T. Jones et al. CIRCULATION RESEARCH
- LOXMutations Predispose to Thoracic Aortic Aneurysms and DissectionsNovelty and Significance
- (2016) Dong-chuan Guo et al. CIRCULATION RESEARCH
- International Registry of Patients Carrying TGFBR1 or TGFBR2 MutationsCLINICAL PERSPECTIVE
- (2016) Guillaume Jondeau et al. Circulation-Cardiovascular Genetics
- Abdominal Aortic Aneurysm Genetic Associations: Mostly False? A Systematic Review and Meta-analysis
- (2016) D.T. Bradley et al. EUROPEAN JOURNAL OF VASCULAR AND ENDOVASCULAR SURGERY
- WES/WGS Reporting of Mutations from Cardiovascular “Actionable” Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases
- (2016) Amélie Pinard et al. HUMAN MUTATION
- FOXE3 mutations predispose to thoracic aortic aneurysms and dissections
- (2016) Shao-Qing Kuang et al. JOURNAL OF CLINICAL INVESTIGATION
- Functional consequence of fibulin-4 missense mutations associated with vascular and skeletal abnormalities and cutis laxa
- (2016) Takako Sasaki et al. MATRIX BIOLOGY
- Fibroblast Growth Factor-9 Activates c-Kit Progenitor Cells and Enhances Angiogenesis in the Infarcted Diabetic Heart
- (2016) Dinender Singla et al. Oxidative Medicine and Cellular Longevity
- Loss of function mutation inLOXcauses thoracic aortic aneurysm and dissection in humans
- (2016) Vivian S. Lee et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- International Registry of Patients Carrying TGFBR1 or TGFBR2 MutationsCLINICAL PERSPECTIVE
- (2016) Guillaume Jondeau et al. Circulation-Cardiovascular Genetics
- Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms
- (2016) Femke N. G. van ’t Hof et al. Journal of the American Heart Association
- MAT2A Mutations Predispose Individuals to Thoracic Aortic Aneurysms
- (2015) Dong-chuan Guo et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Heat shock protein 90 inhibition by 17-DMAG attenuates abdominal aortic aneurysm formation in mice
- (2015) Jia Qi et al. AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY
- Dimorphic Effects of Transforming Growth Factor-β Signaling During Aortic Aneurysm Progression in Mice Suggest a Combinatorial Therapy for Marfan SyndromeSignificance
- (2015) Jason R. Cook et al. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
- The potential role of DNA methylation in the pathogenesis of abdominal aortic aneurysm
- (2015) Bradley J. Toghill et al. ATHEROSCLEROSIS
- Role of Mechanotransduction in Vascular Biology: Focus on Thoracic Aortic Aneurysms and Dissections
- (2015) J. D. Humphrey et al. CIRCULATION RESEARCH
- Aortic Disease Presentation and Outcome Associated WithACTA2MutationsCLINICAL PERSPECTIVE
- (2015) Ellen S. Regalado et al. Circulation-Cardiovascular Genetics
- Common polygenic variation in coeliac disease and confirmation of ZNF335 and NIFA as disease susceptibility loci
- (2015) Ciara Coleman et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- SMAD2Mutations Are Associated with Arterial Aneurysms and Dissections
- (2015) Dimitra Micha et al. HUMAN MUTATION
- Diagnostic Exome Sequencing Identifies a Novel Gene,EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue Disease
- (2015) Alessandra Capuano et al. HUMAN MUTATION
- The Histone Methyltransferase Smyd2 Is a Negative Regulator of Macrophage Activation by Suppressing Interleukin 6 (IL-6) and Tumor Necrosis Factor α (TNF-α) Production
- (2015) Guiliang Xu et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Latent TGF-β-binding proteins
- (2015) Ian B. Robertson et al. MATRIX BIOLOGY
- A comprehensive 1000 Genomes–based genome-wide association meta-analysis of coronary artery disease
- (2015) Majid Nikpay et al. NATURE GENETICS
- Genetically Determined Height and Coronary Artery Disease
- (2015) Christopher P. Nelson et al. NEW ENGLAND JOURNAL OF MEDICINE
- Vascular disease-causing mutation R258C inACTA2disrupts actin dynamics and interaction with myosin
- (2015) Hailong Lu et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Aortic Disease Presentation and Outcome Associated WithACTA2MutationsCLINICAL PERSPECTIVE
- (2015) Ellen S. Regalado et al. Circulation-Cardiovascular Genetics
- MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections
- (2014) Mathieu Barbier et al. AMERICAN JOURNAL OF HUMAN GENETICS
- SMYD Proteins: Key Regulators in Skeletal and Cardiac Muscle Development and Function
- (2014) Shao Jun Du et al. Anatomical Record-Advances in Integrative Anatomy and Evolutionary Biology
- The Contribution of the Functional IL6R Polymorphism rs2228145, eQTLs and Other Genome-Wide SNPs to the Heritability of Plasma sIL-6R Levels
- (2014) Jenny van Dongen et al. BEHAVIOR GENETICS
- Diabetes and Abdominal Aortic Aneurysms
- (2014) P. De Rango et al. EUROPEAN JOURNAL OF VASCULAR AND ENDOVASCULAR SURGERY
- Cathepsin G degradation of phospholipid transfer protein (PLTP) augments pulmonary inflammation
- (2014) Anthony Brehm et al. FASEB JOURNAL
- Dysfunctional Mechanosensing in Aneurysms
- (2014) J. D. Humphrey et al. SCIENCE
- Recurrent Gain-of-Function Mutation in PRKG1 Causes Thoracic Aortic Aneurysms and Acute Aortic Dissections
- (2013) Dong-chuan Guo et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Abdominal Aortic Aneurysm
- (2013) Frank A. Lederle ANNALS OF INTERNAL MEDICINE
- A Variant in LDLR Is Associated With Abdominal Aortic Aneurysm
- (2013) Declan T. Bradley et al. Circulation-Cardiovascular Genetics
- ETS Factors Regulate Vegf-Dependent Arterial Specification
- (2013) Joshua D. Wythe et al. DEVELOPMENTAL CELL
- A sequence variant associated with sortilin-1 (SORT1) on 1p13.3 is independently associated with abdominal aortic aneurysm
- (2013) Gregory T. Jones et al. HUMAN MOLECULAR GENETICS
- Pleiotropic effects of methionine adenosyltransferases deregulation as determinants of liver cancer progression and prognosis
- (2013) Maddalena Frau et al. JOURNAL OF HEPATOLOGY
- Diseases of the thoracic aorta in women
- (2013) Tam T.T. Huynh et al. JOURNAL OF VASCULAR SURGERY
- Identification of novel TMPRSS2:ERG mechanisms in prostate cancer metastasis: involvement of MMP9 and PLXNA2
- (2013) T V Tian et al. ONCOGENE
- Histological Features of Carotid Plaque in Patients With Ocular Ischemia Versus Cerebral Events
- (2013) Dominic P.J. Howard et al. STROKE
- Recessively Inherited Severe Aortic Aneurysm Caused by Mutated EFEMP2
- (2012) Zuhair N. Al-Hassnan et al. AMERICAN JOURNAL OF CARDIOLOGY
- Meta-analysis of individual patient data to examine factors affecting growth and rupture of small abdominal aortic aneurysms
- (2012) M. J. Sweeting et al. BRITISH JOURNAL OF SURGERY
- Importance of endothelial NF-κB signalling in vascular remodelling and aortic aneurysm formation
- (2012) Tokuo Saito et al. CARDIOVASCULAR RESEARCH
- Interleukin-6 receptor pathways in abdominal aortic aneurysm
- (2012) Seamus C. Harrison et al. EUROPEAN HEART JOURNAL
- The Transcription Factor Erg Controls Endothelial Cell Quiescence by Repressing Activity of Nuclear Factor (NF)-κB p65
- (2012) Nicola H. Dryden et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Specificity of latent TGF-β binding protein (LTBP) incorporation into matrix: Role of fibrillins and fibronectin
- (2012) Lior Zilberberg et al. JOURNAL OF CELLULAR PHYSIOLOGY
- Apolipoprotein(a) Genetic Sequence Variants Associated With Systemic Atherosclerosis and Coronary Atherosclerotic Burden But Not With Venous Thromboembolism
- (2012) Anna Helgadottir et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- The Role of Extracellular Signal-Related Kinase During Abdominal Aortic Aneurysm Formation
- (2012) Abhijit Ghosh et al. JOURNAL OF THE AMERICAN COLLEGE OF SURGEONS
- High prevalence of abdominal aortic aneurysms in brothers and sisters of patients despite a low prevalence in the population
- (2012) Anneli Linné et al. JOURNAL OF VASCULAR SURGERY
- Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm
- (2012) Mark E Lindsay et al. NATURE GENETICS
- TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome
- (2012) Catherine Boileau et al. NATURE GENETICS
- The Chromosome 9p21.3 Coronary Heart Disease Risk Allele Is Associated with Altered Gene Expression in Normal Heart and Vascular Tissues
- (2012) Anna P. Pilbrow et al. PLoS One
- Susceptibility to acute thoracic aortic dissections in patients dying outside the hospital: An autopsy study
- (2011) Siddharth K. Prakash et al. AMERICAN HEART JOURNAL
- Abdominal Aortic Aneurysm Is Associated with a Variant in Low-Density Lipoprotein Receptor-Related Protein 1
- (2011) Matthew J. Bown et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A single nucleotide polymorphism in exon 3 of the kallikrein 1 gene is associated with large but not small abdominal aortic aneurysm
- (2011) Erik Biros et al. ATHEROSCLEROSIS
- Increased Vertebral Artery Tortuosity Index Is Associated With Adverse Outcomes in Children and Young Adults With Connective Tissue Disorders
- (2011) Shaine A. Morris et al. CIRCULATION
- Exome Sequencing Identifies SMAD3 Mutations as a Cause of Familial Thoracic Aortic Aneurysm and Dissection With Intracranial and Other Arterial Aneurysms
- (2011) Ellen S. Regalado et al. CIRCULATION RESEARCH
- Identification of IL6R and chromosome 11q13.5 as risk loci for asthma
- (2011) Manuel AR Ferreira et al. LANCET
- Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1
- (2011) Scott A LeMaire et al. NATURE GENETICS
- Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis
- (2011) Ingrid M B H van de Laar et al. NATURE GENETICS
- Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease
- (2011) Heribert Schunkert et al. NATURE GENETICS
- Recurrent Chromosome 16p13.1 Duplications Are a Risk Factor for Aortic Dissections
- (2011) Shao-Qing Kuang et al. PLoS Genetics
- Mutations in Myosin Light Chain Kinase Cause Familial Aortic Dissections
- (2010) Li Wang et al. AMERICAN JOURNAL OF HUMAN GENETICS
- De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction
- (2010) Dianna M. Milewicz et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- High Frequency of Thoracic Aneurysms in Patients with Abdominal Aortic Aneurysms
- (2010) Emma Larsson et al. ANNALS OF SURGERY
- TGFBR2 mutations alter smooth muscle cell phenotype and predispose to thoracic aortic aneurysms and dissections
- (2010) Sakiko Inamoto et al. CARDIOVASCULAR RESEARCH
- Sort1, Encoded by the Cardiovascular Risk Locus 1p13.3, Is a Regulator of Hepatic Lipoprotein Export
- (2010) Mads Kjolby et al. Cell Metabolism
- Site Specificity of Aneurysmal Disease
- (2010) P.E. Norman et al. CIRCULATION
- Short stature is associated with coronary heart disease: a systematic review of the literature and a meta-analysis
- (2010) Tuula A. Paajanen et al. EUROPEAN HEART JOURNAL
- Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity
- (2010) D. Horbelt et al. JOURNAL OF CELL SCIENCE
- 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease
- (2010) Loren F. Hiratzka et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Treatment guidelines for thoracic aortic aneurysms and dissections based on the underlying causative gene
- (2010) Dianna M. Milewicz et al. JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY
- From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus
- (2010) Kiran Musunuru et al. NATURE
- Targeted deletion of the 9p21 non-coding coronary artery disease risk interval in mice
- (2010) Axel Visel et al. NATURE
- Biological, clinical and population relevance of 95 loci for blood lipids
- (2010) Tanya M. Teslovich et al. NATURE
- Sequence variants at CHRNB3–CHRNA6 and CYP2A6 affect smoking behavior
- (2010) Thorgeir E Thorgeirsson et al. NATURE GENETICS
- Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm
- (2010) Solveig Gretarsdottir et al. NATURE GENETICS
- Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease
- (2009) Dong-Chuan Guo et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Abdominal aortic aneurysms, or a relatively large diameter of non-aneurysmal aortas, increase total and cardiovascular mortality: the Tromso study
- (2009) S. H. Forsdahl et al. INTERNATIONAL JOURNAL OF EPIDEMIOLOGY
- Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations
- (2009) V Tran-Fadulu et al. JOURNAL OF MEDICAL GENETICS
- Genetic and environmental contributions to abdominal aortic aneurysm development in a twin population
- (2009) Carl Magnus Wahlgren et al. JOURNAL OF VASCULAR SURGERY
- Finding the missing heritability of complex diseases
- (2009) Teri A. Manolio et al. NATURE
- LRP1 Regulates Architecture of the Vascular Wall by Controlling PDGFRβ-Dependent Phosphatidylinositol 3-Kinase Activation
- (2009) Li Zhou et al. PLoS One
- Genetic Basis of Thoracic Aortic Aneurysms and Dissections: Focus on Smooth Muscle Cell Contractile Dysfunction
- (2008) Dianna M. Milewicz et al. Annual Review of Genomics and Human Genetics
- Acute Elevation of Plasma PLTP Activity Strongly Increases Pre-existing Atherosclerosis
- (2008) Matthijs Moerland et al. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
- Fibroblast growth factor 9 signaling inhibits airway smooth muscle differentiation in mouse lung
- (2008) Lan Yi et al. DEVELOPMENTAL DYNAMICS
- Connective tissue disorders in dissections of the carotid or vertebral arteries
- (2008) Hans-Jürgen Gdynia et al. JOURNAL OF CLINICAL NEUROSCIENCE
- Transforming Growth Factor-β Signaling in Thoracic Aortic Aneurysm Development: A Paradox in Pathogenesis
- (2008) Jeffrey A. Jones et al. JOURNAL OF VASCULAR RESEARCH
- A population-based case-control study of the familial risk of abdominal aortic aneurysm
- (2008) Emma Larsson et al. JOURNAL OF VASCULAR SURGERY
- The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm
- (2008) Anna Helgadottir et al. NATURE GENETICS
- Mechanotransduction at a distance: mechanically coupling the extracellular matrix with the nucleus
- (2008) Ning Wang et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
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