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Mutations in smooth muscle α-actin ( ACTA2 ) lead to thoracic aortic aneurysms and dissections

Published on Dec 1, 2007in Nature Genetics25.45
· DOI :10.1038/ng.2007.6
Dongchuan Guo32
Estimated H-index: 32
(University of Texas Health Science Center at Houston),
Hariyadarshi Pannu18
Estimated H-index: 18
(University of Texas Health Science Center at Houston)
+ 22 AuthorsDianna M. Milewicz56
Estimated H-index: 56
(University of Texas Health Science Center at Houston)
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Abstract
Mutations in smooth muscle α-actin ( ACTA2 ) lead to thoracic aortic aneurysms and dissections
  • References (30)
  • Citations (527)
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References30
Newest
Published on Apr 5, 2007in Human Molecular Genetics4.54
Hariyadarshi Pannu18
Estimated H-index: 18
,
Van Tran-Fadulu11
Estimated H-index: 11
+ 12 AuthorsAllan R. Brasier54
Estimated H-index: 54
(UTMB: University of Texas Medical Branch)
Non-syndromic thoracic aortic aneurysms and dissections (TAADs) are inherited in an autosomal dominant manner in 20% of cases. Familial TAAD is genetically heterogeneous and four loci have been mapped for this disease to date, including a locus at 16p for TAAD associated with patent ductus arteriosus (PDA). The defective gene at the 16p locus has recently been identified as the smooth muscle cell (SMC)-specific myosin heavy chain gene (MYH11). On sequencing MYH11 in 93 families with TAAD alone a...
Published on Feb 1, 2007in Annals of Neurology9.50
Kristen J. Nowak26
Estimated H-index: 26
(UWA: University of Western Australia),
Caroline Sewry38
Estimated H-index: 38
(Imperial College London)
+ 14 AuthorsRichard Appleton39
Estimated H-index: 39
(Boston Children's Hospital)
Objective To investigate seven congenital myopathy patients from six families: one French Gypsy, one Spanish Gypsy, four British Pakistanis, and one British Indian. Three patients required mechanical ventilation from birth, five died before 22 months, one is ventilator-dependent, but one, at 30 months, is sitting with minimal support. All parents were unaffected. Methods The α-skeletal muscle actin gene (ACTA1) was sequenced. Available muscle biopsies were investigated by standard histological a...
Published on Nov 1, 2006in Annals of the New York Academy of Sciences4.29
Hariyadarshi Pannu18
Estimated H-index: 18
(University of Texas Health Science Center at Houston),
Nili Avidan21
Estimated H-index: 21
(University of Texas Health Science Center at Houston)
+ 1 AuthorsDianna M. Milewicz56
Estimated H-index: 56
(University of Texas Health Science Center at Houston)
: Ascending thoracic aortic aneurysms leading to type A dissections (TAAD) have long been known to occur in association with a genetic syndrome such as Marfan syndrome (MFS). More recently, TAAD has also been demonstrated to occur as an autosomal dominant disorder in the absence of syndromic features, termed familial TAAD. Familial TAAD demonstrates genetic heterogeneity, and linkage studies have identified TAAD loci at 5q13-14 (TAAD1), 11q23 (FAA1), 3p24-25 (TAAD2), and 16p12.2-13.13. The genet...
Published on Aug 24, 2006in The New England Journal of Medicine70.67
Bart Loeys56
Estimated H-index: 56
(UGent: Ghent University),
Ulrike Schwarze30
Estimated H-index: 30
(UW: University of Washington)
+ 18 AuthorsSylvie Manouvrier18
Estimated H-index: 18
(Lille University of Science and Technology)
Background The Loeys–Dietz syndrome is a recently described autosomal dominant aortic-aneurysm syndrome with widespread systemic involvement. The disease is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate and is caused by heterozygous mutations in the genes encoding transforming growth factor β receptors 1 and 2 (TGFBR1 and TGFBR2, respectively). Methods We undertook the clinical and molecular characterization of 52 affected familie...
Rumin He2
Estimated H-index: 2
(University of Texas at Austin),
Dongchuan Guo32
Estimated H-index: 32
(University of Texas at Austin)
+ 9 AuthorsL. Maximillian Buja1
Estimated H-index: 1
(University of Texas at Austin)
Objective The histopathologic abnormality underlying ascending aortic aneurysm and dissection is medial degeneration, a lesion that is described as the noninflammatory loss of smooth muscle cells and elastic fibers. This study sought to determine whether inflammatory cells are present in medial degeneration and assess any possible contribution of these cells to apoptosis of smooth muscle cells. Methods Aortic specimens were obtained from patients undergoing prophylactic surgical repair of an asc...
Published on Mar 1, 2006in Nature Genetics25.45
Limin Zhu5
Estimated H-index: 5
,
Roger Vranckx24
Estimated H-index: 24
+ 11 AuthorsXavier Jeunemaitre65
Estimated H-index: 65
Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus
Published on Sep 1, 2005in Heart Failure Reviews4.01
Jil C. Tardiff23
Estimated H-index: 23
(Albert Einstein College of Medicine)
Hypertrophic Cardiomyopathy (HCM) is a relatively common primary cardiac disorder defined as the presence of a hypertrophied left ventricle in the absence of any other diagnosed etiology. HCM is the most common cause of sudden cardiac death in young people which often occurs without precedent symptoms. The overall clinical phenotype of patients with HCM is broad, ranging from a complete lack of cardiovascular symptoms to exertional dyspnea, chest pain, and sudden death, often due to arrhythmias....
Published on Sep 1, 2005in Annual Review of Genomics and Human Genetics7.91
Ferhaan Ahmad25
Estimated H-index: 25
,
J. G. Seidman124
Estimated H-index: 124
,
Christine E. Seidman115
Estimated H-index: 115
▪ Abstract Cardiomyopathies are primary disorders of cardiac muscle associated with abnormalities of cardiac wall thickness, chamber size, contraction, relaxation, conduction, and rhythm. They are a major cause of morbidity and mortality at all ages and, like acquired forms of cardiovascular disease, often result in heart failure. Over the past two decades, molecular genetic studies of humans and analyses of model organisms have made remarkable progress in defining the pathogenesis of cardiomyop...
Published on Jul 18, 2005in Circulation23.05
Hariyadarshi Pannu18
Estimated H-index: 18
(University of Texas Health Science Center at Houston),
Van Tran Fadulu3
Estimated H-index: 3
(University of Texas Health Science Center at Houston)
+ 11 AuthorsHazim J. Safi60
Estimated H-index: 60
(University of Texas Health Science Center at Houston)
Background— A genetic predisposition for progressive enlargement of thoracic aortic aneurysms leading to type A dissection (TAAD) is inherited in an autosomal-dominant manner in up to 19% of patients, and a number of chromosomal loci have been identified for the condition. Having mapped a TAAD locus to 3p24–25, we sequenced the gene for transforming growth factor-β receptor type II (TGFBR2) to determine whether mutations in this gene resulted in familial TAAD. Methods and Results— We sequenced a...
Published on Jan 1, 2005in ePlasty
Brian J. Poindexter18
Estimated H-index: 18
(TMC: Texas Medical Center)
Objective: The aim of this study was visualization and localization of the human antimicrobials human beta defensins 1, 2, and 3, neutrophil defensin alpha (human neutrophil peptide), and the cathelicidin LL-37 in normal and burned skin, and determination of the cell types in which these antimicrobials were localized. Methods: Tissue sections were probed with antimicrobial antibodies, tagged with fluorescently labeled secondary antibodies, and subjected to fluorescence deconvolution microscopy a...
Cited By527
Newest
Published on Dec 1, 2019in Scientific Reports4.01
Valeriana Cesarini3
Estimated H-index: 3
(Sapienza University of Rome),
C Pisano1
Estimated H-index: 1
(Sapienza University of Rome)
+ 6 AuthorsSusanna Dolci35
Estimated H-index: 35
(Sapienza University of Rome)
Aneurysms and dissections affecting thoracic aorta are associated with smooth muscle cell (SMC) dysfunction. NO/cGMP signaling pathway in smooth muscle cells has been shown to be affected in sporadic thoracic aortic aneurysms. We analyzed the mRNA levels of PDE5, a cGMP-hydrolyzing enzyme highly expressed in aortic SMCs, that regulates arterious vascular tone by lowering cGMP levels. We found that aortic tissue obtained from Marfan, tricuspid and bicuspid thoracic aneurysms expressed lower level...
Published on May 2, 2019in Scientific Reports4.01
Natalija Bogunovic2
Estimated H-index: 2
(VUmc: VU University Medical Center),
Jorn P. Meekel1
Estimated H-index: 1
(VUmc: VU University Medical Center)
+ 3 AuthorsKak K. Yeung8
Estimated H-index: 8
(VUmc: VU University Medical Center)
Ruptured abdominal aortic aneurysms (AAA) are associated with overall mortality rates up to 90%. Despite extensive research, mechanisms leading to AAA formation and advancement are still poorly understood. Smooth muscle cells (SMC) are predominant in the aortic medial layer and maintain the wall structure. Apoptosis of SMC is a well-known phenomenon in the pathophysiology of AAA. However, remaining SMC function is less extensively studied. The aim of this study is to assess the in vitro contract...
Published on Feb 11, 2019in Genetics in Medicine8.68
Pauline Arnaud4
Estimated H-index: 4
(Paris Diderot University),
Nadine Hanna10
Estimated H-index: 10
(Paris Diderot University)
+ 19 AuthorsThomas Edouard7
Estimated H-index: 7
Heritable thoracic aortic aneurysms and dissections (hTAAD) are life-threatening complications of well-known syndromic diseases or underdiagnosed nonsyndromic heritable forms (nshTAAD). Both have an autosomal dominant transmission and are genetically heterogeneous. Our objective was to describe the relevance of molecular diagnosis in these patients and the contribution of each gene in nshTAAD. Two hundred twenty-six consecutive nshTAAD probands, either young (<45 years) sporadic or familial case...
Published on Jun 22, 2019in Organisms Diversity & Evolution2.14
Guangshuai Liu3
Estimated H-index: 3
(Qufu Normal University),
Chao Zhao3
Estimated H-index: 3
(Qufu Normal University)
+ 5 AuthorsHonghai Zhang5
Estimated H-index: 5
(Qufu Normal University)
Molecular adaptations to life on the Qinghai-Tibetan Plateau (QTP) have been detected in the genomes of many native animals, but the contribution of variations in gene expression to high-altitude adaptation remains to be determined. Here, we sequenced the peripheral blood transcriptomes of the lowland wolf and the Tibetan wolf (Canis lupus chanco), an endemic top predator on the QTP, and analyzed how the gene expression pattern has become modified to cope with the extreme plateau environments. C...
Published on May 1, 2019in Journal of Molecular and Cellular Cardiology5.05
Barbara Messner15
Estimated H-index: 15
(Medical University of Vienna),
David Bernhard32
Estimated H-index: 32
(Johannes Kepler University of Linz)
Abstract Herein we summarize the current knowledge on the bicuspid aortic valve (BAV)-associated aortopathy regarding clinical presentation and disease sub-classification, genetic background, hemodynamics, histopathology, cells and signaling, animal models, and biomarkers. Despite enormous efforts in research in all of the above areas, important issues remain unknown: (i) what is the ontogenetic basis of BAV development? (ii) how can we explain the diversity of BAV and associated aortopathy phen...
Published on Apr 1, 2019in Journal of Cardiology2.29
Norifumi Takeda13
Estimated H-index: 13
(UTokyo: University of Tokyo),
Norifumi Takeda9
Estimated H-index: 9
(UTokyo: University of Tokyo),
Issei Komuro88
Estimated H-index: 88
(UTokyo: University of Tokyo)
Abstract Recent advances in DNA sequencing technology have identified several causative genes for hereditary thoracic aortic aneurysms and dissections (TAADs), including Marfan syndrome (MFS), Loeys–Dietz syndrome, vascular Ehlers–Danlos syndrome, and familial non-syndromic TAADs. Syndromic TAADs are typically caused by pathogenic variants in the transforming growth factor-β signal and extracellular matrix-related genes (e.g. FBN1 , TGFBR1 , TGFBR2 , SMAD3 , TGFB2 , and COL3A1 ). On the other ha...
Published on May 30, 2019in Arteriosclerosis, Thrombosis, and Vascular Biology6.62
Ploingarm Petsophonsakul (UM: Maastricht University), Malgorzata Furmanik3
Estimated H-index: 3
(UM: Maastricht University)
+ 7 AuthorsLeon J. Schurgers47
Estimated H-index: 47
(UM: Maastricht University)
Published on Jul 1, 2019in Journal of Cardiovascular Surgery1.06
Giovanni Tinelli7
Estimated H-index: 7
,
Marco Ferraresi + 6 AuthorsStéphan Haulon33
Estimated H-index: 33
Published on Jul 1, 2019in Journal of Molecular and Cellular Cardiology5.05
Carmela Rita Balistreri27
Estimated H-index: 27
,
Maurizio Forte17
Estimated H-index: 17
+ 4 AuthorsSebastiano Sciarretta30
Estimated H-index: 30
Abstract Bicuspid aortic valve (BAV) is a common congenital heart malformation frequently associated with the development of aortic valve diseases and severe aortopathy, such as aortic dilatation, aneurysm and dissection. To date, different genetic loci have been identified in syndromic and non- syndromic forms of BAV. Among these, genes involved in the regulation of extracellular matrix remodelling, epithelial to mesenchymal transition and nitric oxide metabolism appear to be the main contribut...
Published on Jun 1, 2019in Cellular Signalling3.39
Joyce Burger1
Estimated H-index: 1
(Erasmus University Medical Center),
Nicole van Vliet5
Estimated H-index: 5
(Erasmus University Medical Center)
+ 9 AuthorsRoland Kanaar64
Estimated H-index: 64
(Erasmus University Medical Center)
Abstract Fibulin-4 is an extracellular matrix (ECM) protein essential for elastogenesis and mutations in this protein lead to aneurysm formation. In this study, we isolated vascular smooth muscle cells (VSMCs) from mice with reduced fibulin-4 protein expression (Fibulin-4 R/R ) and from mice with a smooth muscle cell specific deletion of the Fibulin-4 gene (Fibulin-4 f/− /SM22Cre + ). We subsequently analyzed and compared the molecular consequences of reduced Fibulin-4 expression versus total ab...
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