Pathophysiology and Principles of Management of Hereditary Aneurysmal Aortopathies
暂无分享,去创建一个
[1] A. Kuehnl,et al. Increasing Incidence of Thoracic Aortic Aneurysm Repair in Germany in the Endovascular Era: Secondary Data Analysis of the Nationwide German DRG Microdata. , 2019, European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular Surgery.
[2] Sarah J. Parker,et al. Lineage-specific events underlie aortic root aneurysm pathogenesis in Loeys-Dietz syndrome , 2019, The Journal of clinical investigation.
[3] Xiaohong Li,et al. TGF-β receptors: In and beyond TGF-β signaling. , 2018, Cellular signalling.
[4] Russell A. Gould,et al. ROBO4 Variants Predispose Individuals to Bicuspid Aortic Valve and Thoracic Aortic Aneurysm , 2018, Nature Genetics.
[5] E. Arbustini,et al. Common presentation of rare diseases: Aortic aneurysms & valves. , 2018, International journal of cardiology.
[6] N. Stitziel,et al. Genetics of the extracellular matrix in aortic aneurysmal diseases. , 2018, Matrix biology : journal of the International Society for Matrix Biology.
[7] U. Roostalu,et al. Arterial smooth muscle dynamics in development and repair. , 2018, Developmental biology.
[8] S. Mehta,et al. A mutation update on the LDS‐associated genes TGFB2/3 and SMAD2/3 , 2018, Human mutation.
[9] T. Fukui. Management of acute aortic dissection and thoracic aortic rupture , 2018, Journal of Intensive Care.
[10] D. Rifkin,et al. LTBPs in biology and medicine: LTBP diseases. , 2017, Matrix biology : journal of the International Society for Matrix Biology.
[11] B. Loeys,et al. Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome. , 2017, Annals of cardiothoracic surgery.
[12] M. Desai,et al. Thoracic aortic aneurysms: state of the art and current controversies , 2017, Expert review of cardiovascular therapy.
[13] Emmanuel Messas,et al. Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor , 2017, Front. Physiol..
[14] A. Mani,et al. The Genetics of Aortopathies in Clinical Cardiology , 2017, Clinical Medicine Insights. Cardiology.
[15] B. Loeys,et al. Aetiology and management of hereditary aortopathy , 2017, Nature Reviews Cardiology.
[16] M. Eagleton. Arterial complications of vascular Ehlers-Danlos syndrome. , 2016, Journal of vascular surgery.
[17] S. A. Malik,et al. Arterial tortuosity syndrome , 2016, BMJ Case Reports.
[18] G. Mortier,et al. Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections , 2016, Genetics in Medicine.
[19] E. Isselbacher,et al. Hereditary Influence in Thoracic Aortic Aneurysm and Dissection. , 2016, Circulation.
[20] Corey L. Reynolds,et al. FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. , 2016, The Journal of clinical investigation.
[21] J. Shendure,et al. LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections. , 2016, Circulation research.
[22] E. Ignatieva,et al. Phenotypic and Functional Changes of Endothelial and Smooth Muscle Cells in Thoracic Aortic Aneurysms , 2016, International journal of vascular medicine.
[23] B. Loeys,et al. TGF-β signalopathies as a paradigm for translational medicine. , 2015, European journal of medical genetics.
[24] G. Vriend,et al. SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections , 2015, Human mutation.
[25] S. Morris,et al. Arterial tortuosity in genetic arteriopathies , 2015, Current opinion in cardiology.
[26] B. Loeys,et al. The genetic architecture of non-syndromic thoracic aortic aneurysm , 2015, Heart.
[27] G. Pals,et al. Familial Ehlers‐Danlos syndrome with lethal arterial events caused by a mutation in COL5A1 , 2015, American journal of medical genetics. Part A.
[28] M. Goumans,et al. Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections , 2015, Journal of the American College of Cardiology.
[29] R. Jeremy,et al. Molecular mechanisms of inherited thoracic aortic disease – from gene variant to surgical aneurysm , 2015, Biophysical Reviews.
[30] C. Nienaber,et al. Predicting long-term outcomes of acute aortic dissection: a focus on gender , 2015, Expert review of cardiovascular therapy.
[31] J. Shendure,et al. MAT2A mutations predispose individuals to thoracic aortic aneurysms. , 2015, American journal of human genetics.
[32] M. Gross,et al. MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections. , 2014, American journal of human genetics.
[33] S. Colan,et al. Atenolol versus losartan in children and young adults with Marfan's syndrome. , 2014, The New England journal of medicine.
[34] A. Orekhov,et al. The complexity of cell composition of the intima of large arteries: focus on pericyte-like cells. , 2014, Cardiovascular research.
[35] H. Dietz,et al. The genetic basis of aortic aneurysm. , 2014, Cold Spring Harbor perspectives in medicine.
[36] H. Dietz,et al. Loeys–Dietz syndrome: a primer for diagnosis and management , 2014, Genetics in Medicine.
[37] M. Flather,et al. A prospective, randomized, placebo-controlled, double-blind, multicenter study of the effects of irbesartan on aortic dilatation in Marfan syndrome (AIMS trial): study protocol , 2013, Trials.
[38] J. Coselli,et al. Thoracic Aortic Aneurysm Frequency and Dissection Are Associated With Fibrillin-1 Fragment Concentrations in Circulation , 2013, Circulation research.
[39] M. Rieder,et al. Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. , 2013, American journal of human genetics.
[40] Seneca L. Bessling,et al. Mutations in the TGF-β Repressor SKI Cause Shprintzen-Goldberg Syndrome with Aortic Aneurysm , 2012, Nature Genetics.
[41] S. Menon,et al. Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis , 2012, Orphanet Journal of Rare Diseases.
[42] E. Fishman,et al. Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm , 2012, Nature Genetics.
[43] Z. Urban,et al. Cutis laxa: a review. , 2012, Journal of the American Academy of Dermatology.
[44] G. Owens,et al. Epigenetic control of smooth muscle cell differentiation and phenotypic switching in vascular development and disease. , 2012, Annual review of physiology.
[45] Takako Sasaki,et al. Microenvironmental Regulation by Fibrillin-1 , 2012, PLoS genetics.
[46] I. Kron,et al. Sex and gender in thoracic aortic aneurysms and dissection. , 2011, Seminars in thoracic and cardiovascular surgery.
[47] H. Dietz,et al. Lessons on the pathogenesis of aneurysm from heritable conditions , 2011, Nature.
[48] G. Vriend,et al. Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis , 2011, Nature Genetics.
[49] R. Ferrell,et al. Analysis of positional candidate genes in the AAA1 susceptibility locus for abdominal aortic aneurysms on chromosome 19 , 2011, BMC Medical Genetics.
[50] S. Shete,et al. Mutations in myosin light chain kinase cause familial aortic dissections. , 2010, American journal of human genetics.
[51] M. Lequin,et al. Combined cardiological and neurological abnormalities due to filamin A gene mutation , 2010, Clinical Research in Cardiology.
[52] H. Dietz,et al. Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency , 2010, European Journal of Human Genetics.
[53] David M. Williams,et al. 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the diagnosis and management of patients with thoracic aortic disease: Executive summary: A report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Th , 2010, Anesthesia and analgesia.
[54] I. Yamanaka,et al. Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD) , 2009, Human mutation.
[55] S. Lemaire,et al. Thoracic Aortic Dissection: Are Matrix Metalloproteinases Involved? , 2009, Vascular.
[56] Benjamin S. Brooke,et al. Angiotensin II blockade and aortic-root dilation in Marfan's syndrome. , 2008, The New England journal of medicine.
[57] Robert K. Yu,et al. Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections , 2007, Nature Genetics.
[58] A. Fraser,et al. Medical treatment of Marfan syndrome: a time for change , 2007, Heart.
[59] D. Judge,et al. Loss of Elastic Fiber Integrity and Reduction of Vascular Smooth Muscle Contraction Resulting From the Upregulated Activities of Matrix Metalloproteinase-2 and -9 in the Thoracic Aortic Aneurysm in Marfan Syndrome , 2007, Circulation research.
[60] A. De Paepe,et al. Three arginine to cysteine substitutions in the pro‐alpha (I)‐collagen chain cause Ehlers‐Danlos syndrome with a propensity to arterial rupture in early adulthood , 2007, Human mutation.
[61] Andrew Williams,et al. Marfan’s syndrome and the heart , 2007, Archives of Disease in Childhood.
[62] G. Jondeau,et al. Effect of beta-blockade on ascending aortic dilatation in children with the Marfan syndrome. , 2007, The American journal of cardiology.
[63] V. Gott,et al. Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease. , 2007, The Annals of thoracic surgery.
[64] Christian Olsson,et al. Thoracic Aortic Aneurysm and Dissection: Increasing Prevalence and Improved Outcomes Reported in a Nationwide Population-Based Study of More Than 14 000 Cases From 1987 to 2002 , 2006 .
[65] Katherine H Kim,et al. Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. , 2006, American journal of human genetics.
[66] Marc K. Halushka,et al. Losartan, an AT1 Antagonist, Prevents Aortic Aneurysm in a Mouse Model of Marfan Syndrome , 2006, Science.
[67] H. Dietz,et al. Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome , 2006, Nature Genetics.
[68] D. Milewicz,et al. Characterization of the inflammatory and apoptotic cells in the aortas of patients with ascending thoracic aortic aneurysms and dissections. , 2006, The Journal of thoracic and cardiovascular surgery.
[69] A. Lalande,et al. Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus , 2006, Nature Genetics.
[70] Wolfram Kress,et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2 , 2005, Nature Genetics.
[71] E. Fishman,et al. Pathogenesis in acute aortic syndromes: aortic aneurysm leak and rupture and traumatic aortic transection. , 2003, AJR. American journal of roentgenology.
[72] Jeffrey L. Wrana,et al. Distinct endocytic pathways regulate TGF-β receptor signalling and turnover , 2003, Nature Cell Biology.
[73] Paul Coucke,et al. Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. , 2002, Human molecular genetics.
[74] P. Byers,et al. Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV. , 2001, American journal of human genetics.
[75] R. Hennekam,et al. Natural history of cardiovascular manifestations in Marfan syndrome , 2001, Archives of disease in childhood.
[76] J. Murray,et al. Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts. , 2001, Human molecular genetics.
[77] William B Dobyns,et al. Mutations in filamin 1 Prevent Migration of Cerebral Cortical Neurons in Human Periventricular Heterotopia , 1998, Neuron.
[78] E. Murphy,et al. Progression of aortic dilatation and the benefit of long-term beta-adrenergic blockade in Marfan's syndrome. , 1994, The New England journal of medicine.
[79] D. Milewicz,et al. Structure of the Elastin-Contractile Units in the Thoracic Aorta and How Genes That Cause Thoracic Aortic Aneurysms and Dissections Disrupt This Structure. , 2016, The Canadian journal of cardiology.
[80] G. Andelfinger,et al. A Decade of Discovery in the Genetic Understanding of Thoracic Aortic Disease. , 2016, The Canadian journal of cardiology.
[81] G. Ateshian,et al. Biomechanical roles of medial pooling of glycosaminoglycans in thoracic aortic dissection , 2014, Biomechanics and modeling in mechanobiology.
[82] Frank J Criado,et al. Aortic dissection: a 250-year perspective. , 2011, Texas Heart Institute journal.
[83] P. Doevendans,et al. Regulation and characteristics of vascular smooth muscle cell phenotypic diversity , 2007, Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation.
[84] Shprintzen Rj,et al. A recurrent pattern syndrome of craniosynostosis associated with arachnodactyly and abdominal hernias. , 1982 .