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Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus

Published on Mar 1, 2006in Nature Genetics 25.45
· DOI :10.1038/ng1721
Limin Zhu5
Estimated H-index: 5
,
Roger Vranckx24
Estimated H-index: 24
+ 11 AuthorsXavier Jeunemaitre65
Estimated H-index: 65
Cite
Abstract
Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus
  • References (31)
  • Citations (405)
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References31
Newest
Published on Oct 1, 2005in Journal of Molecular Biology 5.07
Ravid Straussman12
Estimated H-index: 12
(HUJI: Hebrew University of Jerusalem),
John M. Squire37
Estimated H-index: 37
(Imperial College London)
+ 1 AuthorsShoshana Ravid14
Estimated H-index: 14
(HUJI: Hebrew University of Jerusalem)
Molecular packing of myosin II coiled-coil rods into myosin filaments and the role of skip residues in the heptad sequence have been investigated. Sequence comparison of rods from skeletal, smooth and non-muscle myosin II shows that different myosin II subtypes have significantly different charge distributions. Analysis of the ionic interactions between adjacent rods with changing molecular overlap relates the different patterns of charge to the different structures of skeletal and smooth muscle...
Published on Jul 18, 2005in Circulation 23.05
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 Jul 12, 2005in Circulation 23.05
Philippe Khau Van Kien6
Estimated H-index: 6
,
Flavie Mathieu27
Estimated H-index: 27
+ 6 AuthorsXavier Jeunemaitre65
Estimated H-index: 65
Background— Three loci have been shown to be responsible for nonsyndromic familial thoracic aortic aneurysms (TAAs) and aortic dissections (ADs). We recently described a large family in which TAA/AD associates with patent ductus arteriosus (PDA) and provided genetic arguments for a unique pathophysiological entity. Methods and Results— Genome-wide scan was performed in 40 subjects belonging to 3 generations in this large pedigree. Using the 7 TAA/AD cases as affected, we observed positive 2-poin...
Published on Jun 1, 2005in Hypertension 7.02
Stéphane Laurent65
Estimated H-index: 65
,
Pierre Boutouyrie60
Estimated H-index: 60
,
Patrick Lacolley48
Estimated H-index: 48
Arterial stiffness has independent predictive value for cardiovascular events. We review data concerning the heritability of arterial stiffness, and propose an integrated view of the structural and genetic determinants of arterial stiffness, based on a candidate gene approach and recent studies on gene expression profile. Arterial stiffness seems to have a genetic component, which is largely independent of the influence of blood pressure and other cardiovascular risk factors. In animal models of...
Published on May 1, 2005in Current Opinion in Cardiology 1.98
Catherine Boileau18
Estimated H-index: 18
,
Guillaume Jondeau51
Estimated H-index: 51
+ 1 AuthorsNaomichi Matsumoto54
Estimated H-index: 54
Purpose of reviewMarfan syndrome, the founding member of connective tissue disorders, is characterized by involvement of three major systems (skeletal, ocular, and cardiovascular) due to alteration in microfibrils. FBN1 at 15q21.1 was found to cause Marfan syndrome in 1991, and in 2004 TGFBR2 at 3p2
Published on Apr 1, 2005in Nature Genetics 25.45
Yung-Hao Ching11
Estimated H-index: 11
(University of Nottingham),
Tushar K. Ghosh8
Estimated H-index: 8
(University of Nottingham)
+ 15 AuthorsAndrew J. Bonser3
Estimated H-index: 3
(University of Nottingham)
Atrial septal defect is one of the most common forms ofcongenital heart malformation. We identified a new locuslinked with atrial septal defect on chromosome 14q12 in alarge family with dominantly inherited atrial septal defect.The underlying mutation is a missense substitution, I820N, ina-myosin heavy chain (MYH6), a structural protein expressedat high levels in the developing atria, which affects the bindingof the heavy chain to its regulatory light chain. The cardiactranscription factor TBX5 s...
Published on Jan 1, 2005in Blood 16.56
Josef D. Franke12
Estimated H-index: 12
,
Fan Dong5
Estimated H-index: 5
+ 2 AuthorsDaniel P. Kiehart48
Estimated H-index: 48
MYH9- related disorders are autosomal dominant syndromes, variably affecting platelet formation, hearing, and kidney function, and result from mutations in the human nonmuscle myosin-IIA heavy chain gene. To understand the mechanisms by which mutations in the rod region disrupt nonmuscle myosin-IIA function, we examined the in vitro behavior of 4 common mutant forms of the rod (R1165C, D1424N, E1841K, and R1933Stop) compared with wild type. We used negative-stain electron microscopy to analyze p...
Published on Oct 1, 2004in American Journal of Human Genetics 9.92
Christopher Meredith1
Estimated H-index: 1
(ECU: Edith Cowan University),
Ralf Herrmann17
Estimated H-index: 17
+ 16 AuthorsMaaike M van der Graaff3
Estimated H-index: 3
(UvA: University of Amsterdam)
We previously linked Laing-type early-onset autosomal dominant distal myopathy (MPD1) to a 22-cM region of chromosome 14. One candidate gene in the region, MYH7, which is mutated in cardiomyopathy and myosin storage myopathy, codes for the myosin heavy chain of type I skeletal muscle fibers and cardiac ventricles. We have identified five novel heterozygous mutations—Arg1500Pro, Lys1617del, Ala1663Pro, Leu1706Pro, and Lys1729del in exons 32, 34, 35, and 36 of MYH7—in six families with early-onset...
Published on Mar 1, 2004in European Journal of Human Genetics 3.65
Philippe Khau Van Kien6
Estimated H-index: 6
,
Jean-Eric Wolf25
Estimated H-index: 25
+ 10 AuthorsArnaud Dellinger1
Estimated H-index: 1
Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity
Published on Jul 1, 2003in Circulation 23.05
Sumera N. Hasham7
Estimated H-index: 7
(University of Texas Health Science Center at Houston),
Marcia C. Willing36
Estimated H-index: 36
(UI: University of Iowa)
+ 6 AuthorsDianna M. Milewicz56
Estimated H-index: 56
(University of Texas Health Science Center at Houston)
Background— Familial thoracic aortic aneurysms and dissections (TAAD) occur as part of known syndromes such as Marfan syndrome but can also be inherited in families in an autosomal dominant manner as an isolated condition. Previous studies have mapped genes causing nonsyndromic familial TAAD to 5q13–15 (TAAD1) and 11q23.2-q24 (FAA1). Further genetic heterogeneity for the condition was evident by the presence of TAAD in some families not linked to these known loci. Methods and Results— A 4-genera...
Cited By405
Newest
Published in Scientific Reports 4.01
Valeriana Cesarini3
Estimated H-index: 3
(Sapienza University of Rome),
C Pisano1
Estimated H-index: 1
(Sapienza University of Rome)
+ -3 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 Reports 4.01
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 in Clinical Genetics 4.10
Weilai Dong3
Estimated H-index: 3
(Yale University),
Clinton Baldwin (Tufts University)+ -3 AuthorsAubrey Milunsky42
Estimated H-index: 42
(Tufts University)
Published in bioRxiv
Qing Liu (Brown University), Kei Hang K. Chan (CityU: City University of Hong Kong)+ -3 AuthorsSimin Liu102
Estimated H-index: 102
(Brown University)
Introduction: Heart failure (HF) is understudied among women; especially, genomic evidence implicating shared or unique mechanisms of HF with respect to reduced or preserved ejection fraction (HFrEF, HFpEF) is lacking across ethnic populations of women. Prior genome-wide association studies (GWAS) have identified approximately 30 suggestive genetic variants for HF, although none have been specifically linked to HFrEF or HFpEF. Objectives: We aimed to define, replicate, and annotate genetic varia...
Published on Apr 1, 2019in Journal of Cardiology 2.29
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 Biology 6.62
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 Jun 1, 2019in Cellular Signalling 3.39
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...
Published on May 3, 2019in bioRxiv
Weitie Wang1
Estimated H-index: 1
(JLU: Jilin University),
Qing Liu (UTokyo: University of Tokyo)+ 7 AuthorsKexiang Liu1
Estimated H-index: 1
(JLU: Jilin University)
BackgroundTo assess the mRNAs expression profile and explore the hub mRNAs and potential molecular mechanisms in the pathogenesis of human thoracic aortic dissection (TAD). Methodology: mRNA microarray expression signatures of TAD tissues (n=6) and no TAD tissues (NT;n=6) were analyzed by Arraystar human mRNAs microarray. Real-time PCR (qRT-PCR) were used to validate the result of mRNAs microarray. Bioinformatic tools including gene ontology, and Kyoto Encyclopedia of Genes and Genomes pathway a...
Published on May 1, 2019in EBioMedicine
Brittany Balint4
Estimated H-index: 4
,
Hao Yin9
Estimated H-index: 9
+ 9 AuthorsJacqueline Chevalier (UWO: University of Western Ontario)
Abstract Background Ascending aortic aneurysms constitute an important hazard for individuals with a bicuspid aortic valve (BAV). However, the processes that degrade the aortic wall in BAV disease remain poorly understood. Methods We undertook in situ analysis of ascending aortas from 68 patients, seeking potentially damaging cellular senescence cascades. Aortas were assessed for senescence-associated-s-galactosidase activity, p16 Ink4a and p21 expression, and double-strand DNA breaks. The senes...