Abstract：
:Thoracic aortic aneurysm (TAA) is a genetic disease predisposing to aortic dissection. It is important to identify the genetic modifiers controlling penetrance and expressivity to improve clinical prognostication. Exome sequencing was performed in 27 subjects with syndromic or familial TAA presenting with extreme phenotypes (15 with severe TAA; 12 with mild or absent TAA). Family-based analysis of a subset of the cohort identified variants, genes, and pathways segregating with TAA severity among three families. A rare missense variant in ADCK4 (p.Arg63Trp) segregated with mild TAA in each family. Genes and pathways identified in families were further investigated in the entire cohort using the optimal unified sequence kernel association test, finding significance for the gene COL15A1 (p = 0.025) and the retina homeostasis pathway (p = 0.035). Thus, we identified candidate genetic modifiers of TAA severity by exome-based study of extreme phenotypes, which may lead to improved risk stratification and development of new medical therapies.
journal_name
J Cardiovasc Transl Resjournal_title
Journal of cardiovascular translational researchauthors
Landis BJ,Schubert JA,Lai D,Jegga AG,Shikany AR,Foroud T,Ware SM,Hinton RBdoi
10.1007/s12265-017-9753-1subject
Has Abstractpub_date
2017-08-01 00:00:00pages
423-432issue
4eissn
1937-5387issn
1937-5395pii
10.1007/s12265-017-9753-1journal_volume
10pub_type
杂志文章abstract：:The V-LAP™ measures left atrial pressure (LAP) and enables bi-directional communications with an external unit, designed to monitor heart failure patients. We hereby describe the pre-clinical experience. Following an ex vivo phase, the system was implanted at the interatrial septum of 10 ovine subjects. LAP readouts w...
journal_title：Journal of cardiovascular translational research
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journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章,评审
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abstract：:Despite important roles in mammalian gene regulation, the critical targeting mechanism of DNA methylation for specific DNA sequences remains unclear. Recently, small non-coding RNAs were reported to be essential for DNA methylation in plants as well as in mice, suggesting that small non-coding RNAs might interact with...
journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章
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journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章
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更新日期：2017-08-01 00:00:00
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journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章
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更新日期：2015-07-01 00:00:00
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journal_title：Journal of cardiovascular translational research
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journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章,多中心研究
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journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章,评审
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更新日期：2012-08-01 00:00:00
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journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章,评审
doi：10.1007/s12265-009-9136-3
更新日期：2009-12-01 00:00:00
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journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章,评审
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journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章,评审
doi：10.1007/s12265-010-9163-0
更新日期：2010-06-01 00:00:00
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journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章
doi：10.1007/s12265-016-9718-9
更新日期：2017-02-01 00:00:00
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journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章,评审
doi：10.1007/s12265-008-9072-7
更新日期：2009-03-01 00:00:00
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journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章
doi：10.1007/s12265-010-9226-2
更新日期：2010-12-01 00:00:00
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journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章
doi：10.1007/s12265-020-10086-5
更新日期：2020-12-17 00:00:00
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journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章,评审
doi：10.1007/s12265-013-9472-1
更新日期：2013-08-01 00:00:00
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journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章
doi：10.1007/s12265-011-9268-0
更新日期：2011-06-01 00:00:00
abstract：:The administration of the selective β3 adrenergic receptor (β3AR) agonist BRL-37344 protects from myocardial ischemia/reperfusion injury (IRI), although the lack of clinical approval limits its translatability. We tested the cardioprotective effect of mirabegron, the first-in-class β3AR agonist approved for human use....
journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章
doi：10.1007/s12265-018-9819-8
更新日期：2018-08-01 00:00:00
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journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章,评审
doi：10.1007/s12265-020-10000-z
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journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章,评审
doi：10.1007/s12265-014-9590-4
更新日期：2014-11-01 00:00:00
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journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章
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journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章
doi：10.1007/s12265-020-10053-0
更新日期：2020-06-22 00:00:00
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journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章,多中心研究
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更新日期：2009-06-01 00:00:00
abstract：:Cardiac resynchronization therapy (CRT) is an important therapy for patients with heart failure and conduction pathology, but the benefits are heterogeneous between patients and approximately a third of patients do not show signs of clinical or echocardiographic response. This calls for a better understanding of the u...
journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章,评审
doi：10.1007/s12265-011-9336-5
更新日期：2012-04-01 00:00:00
abstract：:Cardiovascular disease is the leading cause of death in men and women in the USA; yet, coronary artery disease (CAD) continues to be underrecognized and underdiagnosed in women. Noninvasive and invasive imaging techniques are constantly being developed in order to more accurately assess CAD. At the same time, the impa...
journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章,评审
doi：10.1007/s12265-013-9500-1
更新日期：2013-10-01 00:00:00
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journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章,评审
doi：10.1007/s12265-011-9266-2
更新日期：2011-06-01 00:00:00
abstract：:Different arrhythmogenic substrates for atrial fibrillation (AF) may underlie aortic valve (AV) and mitral valve (MV) disease. We located conduction disorders during sinus rhythm by high-resolution epicardial mapping in patients undergoing AV (n = 85) or MV (n = 54) surgery. Extent and distribution of conduction delay...
journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章
doi：10.1007/s12265-019-09936-8
更新日期：2020-08-01 00:00:00
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journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章,评审
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更新日期：2013-06-01 00:00:00
abstract：:Blood-based biomarker testing of insulin resistance (IR) and beta cell dysfunction may identify diabetes risk earlier than current glycemia-based approaches. This retrospective cohort study assessed 1,687 US patients at risk for cardiovascular disease (CVD) under routine clinical care with a comprehensive panel of 19 ...
journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章,多中心研究
doi：10.1007/s12265-014-9577-1
更新日期：2014-08-01 00:00:00
abstract：:COVID-19 is a syndrome that includes more than just isolated respiratory disease, as severe acute respiratory syndrome-coronavirus 2 (SARS-CoV2) also interacts with the cardiovascular, nervous, renal, and immune system at multiple levels, increasing morbidity in patients with underlying cardiometabolic conditions and ...
journal_title：Journal of cardiovascular translational research
pub_type： 杂志文章,评审
doi：10.1007/s12265-020-10031-6
更新日期：2020-12-01 00:00:00
