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Circulation. Cardiovascular Genetics

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https://www.readbyqxmd.com/read/28320757/additional-candidate-genes-for-human-atherosclerotic-disease-identified-through-annotation-based-on-chromatin-organization
#1
Saskia Haitjema, Claartje A Meddens, Sander W van der Laan, Daniel Kofink, Magdalena Harakalova, Vinicius Tragante, Hassan Foroughi Asl, Jessica van Setten, Maarten M Brandt, Joshua C Bis, Christopher O'Donnell, Caroline Cheng, Imo E Hoefer, Johannes Waltenberger, Erik Biessen, J Wouter Jukema, Pieter A F M Doevendans, Edward E S Nieuwenhuis, Jeanette Erdmann, Johan L M Björkegren, Gerard Pasterkamp, Folkert W Asselbergs, Hester M den Ruijter, Michal Mokry
BACKGROUND: As genome-wide association efforts, such as CARDIoGRAM and METASTROKE, are ongoing to reveal susceptibility loci for their underlying disease-atherosclerotic disease-identification of candidate genes explaining the associations of these loci has proven the main challenge. Many disease susceptibility loci colocalize with DNA regulatory elements, which influence gene expression through chromatin interactions. Therefore, the target genes of these regulatory elements can be considered candidate genes...
April 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28280076/identification-of-cadherin-2-cdh2-mutations-in-arrhythmogenic-right-ventricular-cardiomyopathy
#2
Bongani M Mayosi, Maryam Fish, Gasnat Shaboodien, Elisa Mastantuono, Sarah Kraus, Thomas Wieland, Maria-Christina Kotta, Ashley Chin, Nakita Laing, Ntobeko B A Ntusi, Michael Chong, Christopher Horsfall, Simon N Pimstone, Davide Gentilini, Gianfranco Parati, Tim-Matthias Strom, Thomas Meitinger, Guillaume Pare, Peter J Schwartz, Lia Crotti
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetically heterogeneous condition caused by mutations in genes encoding desmosomal proteins in up to 60% of cases. The 40% of genotype-negative cases point to the need of identifying novel genetic substrates by studying genotype-negative ARVC families. METHODS AND RESULTS: Whole exome sequencing was performed on 2 cousins with ARVC. Validation of 13 heterozygous variants that survived internal quality and frequency filters was performed by Sanger sequencing...
April 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28100627/inflammatory-biomarkers-predict-heart-failure-severity-and-prognosis-in-patients-with-heart-failure-with-preserved-ejection-fraction-a-holistic-proteomic-approach
#3
Camilla Hage, Erik Michaëlsson, Cecilia Linde, Erwan Donal, Jean-Claude Daubert, Li-Ming Gan, Lars H Lund
BACKGROUND: Underlying mechanisms in heart failure (HF) with preserved ejection fraction remain unknown. We investigated cardiovascular plasma biomarkers in HF with preserved ejection fraction and their correlation to diastolic dysfunction, functional class, pathophysiological processes, and prognosis. METHODS AND RESULTS: In 86 stable patients with HF and EF ≥45% in the Karolinska Rennes (KaRen) biomarker substudy, biomarkers were quantified by a multiplex immunoassay...
February 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28100626/effect-of-metformin-on-metabolites-and-relation-with-myocardial-infarct-size-and-left-ventricular-ejection-fraction-after-myocardial-infarction
#4
Ruben N Eppinga, Daniel Kofink, Robin P F Dullaart, Geertje W Dalmeijer, Erik Lipsic, Dirk J van Veldhuisen, Iwan C C van der Horst, Folkert W Asselbergs, Pim van der Harst
BACKGROUND: Left ventricular ejection fraction (LVEF) and infarct size (ISZ) are key predictors of long-term survival after myocardial infarction (MI). However, little is known about the biochemical pathways driving LV dysfunction after MI. To identify novel biomarkers predicting post-MI LVEF and ISZ, we performed metabolic profiling in the GIPS-III randomized clinical trial (Glycometabolic Intervention as Adjunct to Primary Percutaneous Intervention in ST Elevation Myocardial Infarction)...
February 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28087566/application-of-whole-exome-sequencing-in-the-clinical-diagnosis-and-management-of-inherited-cardiovascular-diseases-in-adults
#5
Sara B Seidelmann, Emily Smith, Lakshman Subrahmanyan, Daniel Dykas, Maen D Abou Ziki, Bani Azari, Fady Hannah-Shmouni, Yuexin Jiang, Joseph G Akar, Mark Marieb, Daniel Jacoby, Allen E Bale, Richard P Lifton, Arya Mani
BACKGROUND: With the advent of high throughput sequencing, the identification of genetic causes of cardiovascular disease (CVD) has become an integral part of medical diagnosis and management and at the forefront of personalized medicine in this field. The use of whole exome sequencing for clinical diagnosis, risk stratification, and management of inherited CVD has not been previously evaluated. METHODS AND RESULTS: We analyzed the results of whole exome sequencing in first 200 adult patients with inherited CVD, who underwent genetic testing at the Yale Program for Cardiovascular Genetics...
February 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28077433/osteoprotegerin-disruption-attenuates-hysu-induced-pulmonary-hypertension-through-integrin-%C3%AE-v%C3%AE-3-fak-akt-pathway-suppression
#6
Daile Jia, Qian Zhu, Huan Liu, Caojian Zuo, Yuhu He, Guilin Chen, Ankang Lu
BACKGROUND: Pulmonary arterial remodeling characterized by increased vascular smooth muscle proliferation is commonly seen in life-threatening disease, pulmonary arterial hypertension (PAH). Clinical studies have suggested a correlation between osteoprotegerin serum levels and PAH severity. Here, we aimed to invhestigate vascular osteoprotegerin expression and its effects on pulmonary arterial smooth muscle cell proliferation in vitro and in vivo, as well as examine the signal transduction pathways mediating its activity...
February 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28213390/epigenetic-patterns-in-blood-associated-with-lipid-traits-predict-incident-coronary-heart-disease-events-and-are-enriched-for-results-from-genome-wide-association-studies
#7
Åsa K Hedman, Michael M Mendelson, Riccardo E Marioni, Stefan Gustafsson, Roby Joehanes, Marguerite R Irvin, Degui Zhi, Johanna K Sandling, Chen Yao, Chunyu Liu, Liming Liang, Tianxiao Huan, Allan F McRae, Serkalem Demissie, Sonia Shah, John M Starr, L Adrienne Cupples, Panos Deloukas, Timothy D Spector, Johan Sundström, Ronald M Krauss, Donna K Arnett, Ian J Deary, Lars Lind, Daniel Levy, Erik Ingelsson
BACKGROUND: Genome-wide association studies have identified loci influencing circulating lipid concentrations in humans; further information on novel contributing genes, pathways, and biology may be gained through studies of epigenetic modifications. METHODS AND RESULTS: To identify epigenetic changes associated with lipid concentrations, we assayed genome-wide DNA methylation at cytosine-guanine dinucleotides (CpGs) in whole blood from 2306 individuals from 2 population-based cohorts, with replication of findings in 2025 additional individuals...
January 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28196903/ankyrin-b-defects-serendipity-and-inquisitiveness-are-the-mothers-of-invention
#8
EDITORIAL
Henry Duff, Robert S Sheldon
No abstract text is available yet for this article.
January 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28196902/hyaluronidase-2-deficiency-causes-increased-mesenchymal-cells-congenital-heart-defects-and-heart-failure
#9
Biswajit Chowdhury, Bo Xiang, Michelle Liu, Richard Hemming, Vernon W Dolinsky, Barbara Triggs-Raine
BACKGROUND: Hyaluronan (HA) is required for endothelial-to-mesenchymal transition and normal heart development in the mouse. Heart abnormalities in hyaluronidase 2 (HYAL2)-deficient (Hyal2(-)(/-) ) mice and humans suggested removal of HA is also important for normal heart development. We have performed longitudinal studies of heart structure and function in Hyal2(-/-) mice to determine when, and how, HYAL2 deficiency leads to these abnormalities. METHODS AND RESULTS: Echocardiography revealed atrial enlargement, atrial tissue masses, and valvular thickening at 4 weeks of age, as well as diastolic dysfunction that progressed with age, in Hyal2(-/-) mice...
January 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28196901/novel-variant-in-the-ank2-membrane-binding-domain-is-associated-with-ankyrin-b-syndrome-and-structural-heart-disease-in-a-first-nations-population-with-a-high-rate-of-long-qt-syndrome
#10
Leigh Anne Swayne, Nathaniel P Murphy, Sirisha Asuri, Lena Chen, Xiaoxue Xu, Sarah McIntosh, Chao Wang, Peter J Lancione, Jason D Roberts, Charles Kerr, Shubhayan Sanatani, Elizabeth Sherwin, Crystal F Kline, Mingjie Zhang, Peter J Mohler, Laura T Arbour
BACKGROUND: Long QT syndrome confers susceptibility to ventricular arrhythmia, predisposing to syncope, seizures, and sudden death. While rare globally, long QT syndrome is ≈15× more common in First Nations of Northern British Columbia largely because of a known mutation in KCNQ1. However, 2 large multigenerational families were affected, but negative for the known mutation. METHODS AND RESULTS: Long QT syndrome panel testing was carried out in the index case of each family, and clinical information was collected...
January 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28119333/genetic-insurance-discrimination-in-sudden-arrhythmia-death-syndromes-empirical-evidence-from-a-cross-sectional-survey-in-north-america
#11
Saira Mohammed, Zaneta Lim, Paige H Dean, James E Potts, Jessica N C Tang, Susan P Etheridge, Alice Lara, Pam Husband, Elizabeth D Sherwin, Michael J Ackerman, Shubhayan Sanatani
BACKGROUND: There is virtually no information assessing the insurability of families affected with Sudden Arrhythmia Death Syndromes (SADS) for the determination of the nonclinical implications of genetic screening. It is important to identify the barriers and challenges faced by families as a result of genetic screening for SADS to enable equitable access to insurance coverage. METHODS AND RESULTS: To explore the insurance coverage experiences of SADS-affected families, we administered a cross-sectional online survey across North America from April 28, 2012 to November 13, 2013...
January 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28115490/the-long-noncoding-rna-landscape-of-the-ischemic-human-left-ventricle
#12
Louis A Saddic, Martin I Sigurdsson, Tzuu-Wang Chang, Erica Mazaika, Mahyar Heydarpour, Stanton K Shernan, Christine E Seidman, Jon G Seidman, Sary F Aranki, Simon C Body, Jochen D Muehlschlegel
BACKGROUND: The discovery of functional classes of long noncoding RNAs (lncRNAs) has expanded our understanding of the variety of RNA species that exist in cells. In the heart, lncRNAs have been implicated in the regulation of development, ischemic and dilated cardiomyopathy, and myocardial infarction. Nevertheless, there is a limited description of expression profiles for these transcripts in human subjects. METHODS AND RESULTS: We obtained left ventricular tissue from human patients undergoing cardiac surgery and used RNA sequencing to describe an lncRNA profile...
January 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28115489/functional-validation-of-a-common-nonsynonymous-coding-variant-in-zc3hc1-associated-with-protection-from-coronary-artery-disease
#13
Tara Linseman, Sébastien Soubeyrand, Amy Martinuk, Majid Nikpay, Paulina Lau, Ruth McPherson
BACKGROUND: Although virtually all coronary artery disease associated single-nucleotide polymorphisms identified by genome-wide association studies (GWAS) are in noncoding regions of the genome, a common polymorphism in ZC3HC1 (rs11556924), resulting in an arginine (Arg) to histidine (His) substitution in its encoded protein, NIPA (Nuclear Interacting Partner of Anaplastic Lyphoma Kinase) is linked to a protection from coronary artery disease. NIPA plays a role in cell cycle progression, but the functional consequences of this polymorphism have not been established...
January 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28115488/genome-wide-prioritization-and-transcriptomics-reveal-novel-signatures-associated-with-thiazide-diuretics-blood-pressure-response
#14
Mohamed H Shahin, Ana C Sá, Amy Webb, Yan Gong, Taimour Langaee, Caitrin W McDonough, Alberto Riva, Amber L Beitleshees, Arlene B Chapman, John G Gums, Stephen T Turner, Eric Boerwinkle, Steven E Scherer, Wolfgang Sadee, Rhonda M Cooper-DeHoff, Julie A Johnson
BACKGROUND: Thiazide diuretics are among the most commonly prescribed antihypertensives. However, <50% of thiazide-treated patients achieve blood pressure (BP) control. Herein, we used different omics (genomics and transcriptomics) to identify novel biomarkers of thiazide diuretics BP response. METHODS AND RESULTS: Genome-wide analysis included 228 white hypertensives with BP determined at baseline and after 9 weeks of hydrochlorothiazide. Single-nucleotide polymorphisms with P <5×10(-)(5) were prioritized according to their biological function, using RegulomeDB, haploreg, and Genome-Wide Annotation of Variants...
January 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/27998949/response-by-crotti-et-al-to-letter-regarding-article-genetic-modifiers-for-the-long-qt-syndrome-how-important-is-the-role-of-variants-in-the-3-untranslated-region-of-kcnq1
#15
LETTER
Lia Crotti, Annukka M Lahtinen, Carla Spazzolini, Elisa Mastantuono, Maria Cristina Monti, Caterina Morassutto, Gianfranco Parati, Marshall Heradien, Althea Goosen, Peter Lichtner, Thomas Meitinger, Paul A Brink, Kimmo Kontula, Heikki Swan, Peter J Schwartz
No abstract text is available yet for this article.
December 2016: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/27998948/letter-by-amin-et-al-regarding-article-genetic-modifiers-for-the-long-qt-syndrome-how-important-is-the-role-of-variants-in-the-3-untranslated-region-of-kcnq1
#16
LETTER
Ahmad S Amin, Yigal M Pinto, Michael J Ackerman, Arthur A M Wilde
No abstract text is available yet for this article.
December 2016: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/27998947/letter-by-finsterer-and-zarrouk-mahjoub-regarding-article-combination-of-whole-genome-sequencing-linkage-and-functional-studies-implicates-a-missense-mutation-in-titin-as-a-cause-of-autosomal-dominant-cardiomyopathy-with-features-of-left-ventricular-noncompaction
#17
LETTER
https://www.readbyqxmd.com/read/27998946/letter-by-brown-regarding-article-genetic-risk-scores-predict-recurrence-of-acute-coronary-syndrome
#18
LETTER
Sherry-Ann Brown
No abstract text is available yet for this article.
December 2016: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/27998945/new-insights-into-the-genetic-basis-of-inherited-arrhythmia-syndromes
#19
Belinda Gray, Elijah R Behr
No abstract text is available yet for this article.
December 2016: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/27998944/predicting-incident-coronary-heart-disease-many-markers-at-a-time
#20
EDITORIAL
William S Bush, Dana C Crawford
No abstract text is available yet for this article.
December 2016: Circulation. Cardiovascular Genetics
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