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https://www.readbyqxmd.com/read/28921168/chromosomal-abnormalities-affect-the-surgical-outcome-in-infants-with-hypoplastic-left-heart-syndrome-a-large-cohort-analysis
#1
Dala Zakaria, Xinyu Tang, Rupal Bhakta, Nahed O ElHassan, Parthak Prodhan
Patients with hypoplastic left heart syndrome (HLHS) can have associated genetic abnormalities. This study evaluated the incidence of genetic abnormalities among infants with HLHS and the short-term outcomes of this population during the first hospitalization. This is a retrospective analysis of the multi-center Pediatric Heath Information System database of infants with HLHS who underwent Stage I Norwood, Hybrid, or heart transplant during their first hospitalization from 2004 through 2013. We compared clinical data between infants with and without genetic abnormality, among the three most common chromosomal abnormalities, and between survivors and non-survivors...
September 18, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28919378/sudden-death-mechanisms-in-non-ischemic-cardiomyopathies-insights-gleaned-from-clinical-implantable-cardioverter-defibrillator-trials
#2
Benjamin A Steinberg, Siva K Mulpuru, James C Fang, Bernard J Gersh
Sudden cardiac death (SCD) represents a major cause of death among patients with heart failure. While scar-based, macro-reentrant ventricular tachycardia and ventricular fibrillation (VT/VF) is the primary etiology for SCD among patients with ischemic cardiomyopathy, a more diverse set of mechanisms and substrates are likely at play for the diverse group of patients characterized by non-ischemic, dilated cardiomyopathy (NICM). These causes may include scar-based re-entry, but also neurohormonal stimulation (sympathetic, parasympathetic, renin-angiotensin-aldosterone), inflammation, and non-arrhythmic processes occurring in the context of a genetic predisposition...
September 14, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28919131/optogenetic-targeting-of-cardiac-myocytes-and-non-myocytes-tools-challenges-and-utility
#3
Callum M Johnston, Eva A Rog-Zielinska, Eike M Wülfers, Torsten Houwaart, Urszula Siedlecka, Thomas Knöpfel, Peter Kohl, Franziska Schneider-Warme
In optogenetics, light-activated proteins are used to monitor and modulate cellular behaviour with light. Combining genetic targeting of distinct cellular populations with defined patterns of optical stimulation enables one to study specific cell classes in complex biological tissues. In the current study we attempted to investigate the functional relevance of heterocellular electrotonic coupling in cardiac tissue in situ. In order to do that, we used a Cre-Lox approach to express the light-gated cation channel Channelrhodopsin-2 (ChR2) specifically in either cardiac myocytes or non-myocytes...
September 15, 2017: Progress in Biophysics and Molecular Biology
https://www.readbyqxmd.com/read/28919064/genetics-of-obesity-what-genetic-association-studies-have-taught-us-about-the-biology-of-obesity-and-its-complications
#4
REVIEW
Mark O Goodarzi
Genome-wide association studies (GWAS) for BMI, waist-to-hip ratio, and other adiposity traits have identified more than 300 single-nucleotide polymorphisms (SNPs). Although there is reason to hope that these discoveries will eventually lead to new preventive and therapeutic agents for obesity, this will take time because such developments require detailed mechanistic understanding of how an SNP influences phenotype (and this information is largely unavailable). Fortunately, absence of functional information has not prevented GWAS findings from providing insights into the biology of obesity...
September 14, 2017: Lancet Diabetes & Endocrinology
https://www.readbyqxmd.com/read/28917497/comparison-of-outcome-of-possible-versus-definite-infective-endocarditis-involving-prosthetic-or-bioprosthetic-heart-valves
#5
Laurent Fauchier, Lauriane Pericart, Thierry Bourguignon, Thibaud Genet, Arnaud Bisson, Anne Bernard, Louis Bernard, Dominique Babuty
The objectives of this study were to describe and compare the clinical characteristics and outcomes of patients with definite and possible infective endocarditis (IE) involving prosthetic heart valve, and to identify prognostic factors for long-term mortality, using data from an unselected cohort of consecutive patients. We studied data from 133 consecutive patients with IE involving prosthetic heart valve seen in an academic institution between 1990 and 2012. Patients were classified according to the modified Duke criteria for IE: patients with possible IE (n = 47, 35%) and patients with definite IE (n = 86, 65%)...
August 7, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28917322/high-genetic-diversity-in-toxoplasma-gondii-isolates-from-pigs-at-slaughterhouses-in-para%C3%A3-ba-state-northeastern-brazil-circulation-of-new-genotypes-and-brazilian-clonal-lineages
#6
Thais Ferreira Feitosa, Vinícius Longo Ribeiro Vilela, João Leite de Almeida-Neto, Antonielson Dos Santos, Dayana Firmino de Morais, Bruna Farias Alves, Fabiana Nakashima, Solange Maria Gennari, Ana Célia Rodrigues Athayde, Hilda Fátima Jesus Pena
The consumption of raw or undercooked pig meat containing Toxoplasma gondii cysts is an important transmission route of this protozoon to animals and humans. This study aimed to serologically diagnose, isolate and genotype T. gondii from pigs slaughtered for human consumption in the state of Paraíba, northeastern Brazil. Blood and tissue samples (heart, tongue and brain) were collected from 120 pigs at slaughterhouses in the state of Paraíba. Serological examinations were performed with an indirect immunofluorescent antibody test (IFAT) with a cut-off point of 1:64...
September 15, 2017: Veterinary Parasitology
https://www.readbyqxmd.com/read/28916735/functional-screening-in-human-cardiac-organoids-reveals-a-metabolic-mechanism-for-cardiomyocyte-cell-cycle-arrest
#7
Richard J Mills, Drew M Titmarsh, Xaver Koenig, Benjamin L Parker, James G Ryall, Gregory A Quaife-Ryan, Holly K Voges, Mark P Hodson, Charles Ferguson, Lauren Drowley, Alleyn T Plowright, Elise J Needham, Qing-Dong Wang, Paul Gregorevic, Mei Xin, Walter G Thomas, Robert G Parton, Lars K Nielsen, Bradley S Launikonis, David E James, David A Elliott, Enzo R Porrello, James E Hudson
The mammalian heart undergoes maturation during postnatal life to meet the increased functional requirements of an adult. However, the key drivers of this process remain poorly defined. We are currently unable to recapitulate postnatal maturation in human pluripotent stem cell-derived cardiomyocytes (hPSC-CMs), limiting their potential as a model system to discover regenerative therapeutics. Here, we provide a summary of our studies, where we developed a 96-well device for functional screening in human pluripotent stem cell-derived cardiac organoids (hCOs)...
September 15, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28913729/exome-array-analysis-identifies-etfb-as-a-novel-susceptibility-gene-for-anthracycline-induced-cardiotoxicity-in-cancer-patients
#8
Sara Ruiz-Pinto, Guillermo Pita, Miguel Martín, Teresa Alonso-Gordoa, Daniel R Barnes, María R Alonso, Belén Herraez, Purificación García-Miguel, Javier Alonso, Antonio Pérez-Martínez, Antonio J Cartón, Federico Gutiérrez-Larraya, José A García-Sáenz, Javier Benítez, Douglas F Easton, Ana Patiño-García, Anna González-Neira
PURPOSE: Anthracyclines are widely used chemotherapeutic drugs that can cause progressive and irreversible cardiac damage and fatal heart failure. Several genetic variants associated with anthracycline-induced cardiotoxicity (AIC) have been identified, but they explain only a small proportion of the interindividual differences in AIC susceptibility. METHODS: In this study, we evaluated the association of low-frequency variants with risk of chronic AIC using the Illumina HumanExome BeadChip array in a discovery cohort of 61 anthracycline-treated breast cancer patients with replication in a second independent cohort of 83 anthracycline-treated pediatric cancer patients, using gene-based tests (SKAT-O)...
September 14, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28912365/d-dimer-in-african-americans-whole-genome-sequence-analysis-and-relationship-to-cardiovascular-disease-risk-in-the-jackson-heart-study
#9
Laura M Raffield, Neil A Zakai, Qing Duan, Cecelia Laurie, Joshua D Smith, Marguerite R Irvin, Margaret F Doyle, Rakhi P Naik, Ci Song, Ani W Manichaikul, Yongmei Liu, Peter Durda, Jerome I Rotter, Nancy S Jenny, Stephen S Rich, James G Wilson, Andrew D Johnson, Adolfo Correa, Yun Li, Deborah A Nickerson, Kenneth Rice, Ethan M Lange, Mary Cushman, Leslie A Lange, Alex P Reiner
OBJECTIVE: Plasma levels of the fibrinogen degradation product D-dimer are higher among African Americans (AAs) compared with those of European ancestry and higher among women compared with men. Among AAs, little is known of the genetic architecture of D-dimer or the relationship of D-dimer to incident cardiovascular disease. APPROACH AND RESULTS: We measured baseline D-dimer in 4163 AAs aged 21 to 93 years from the prospective JHS (Jackson Heart Study) cohort and assessed association with incident cardiovascular disease events...
September 14, 2017: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/28912183/arrhythmogenic-cardiomyopathy
#10
REVIEW
Domenico Corrado, Cristina Basso, Daniel P Judge
Arrhythmogenic cardiomyopathy is an inherited heart muscle disorder, predisposing to sudden cardiac death, particularly in young patients and athletes. Pathological features include loss of myocytes and fibrofatty replacement of right ventricular myocardium; biventricular involvement is often observed. It is a cell-to-cell junction cardiomyopathy, typically caused by genetically determined abnormalities of cardiac desmosomes, which leads to detachment of myocytes and alteration of intracellular signal transduction...
September 15, 2017: Circulation Research
https://www.readbyqxmd.com/read/28911943/heterozygous-deletion-of-akt1-rescues-cardiac-contractility-but-not-hypertrophy-in-a-mouse-model-of-noonan-syndrome-with-multiple-lentigines
#11
Rajika Roy, Maike Krenz
Noonan Syndrome with Multiple Lentigines (NSML) is associated with congenital heart disease in form of pulmonary valve stenosis and hypertrophic cardiomyopathy (HCM). Genetically, NSML is primarily caused by mutations in the non-receptor protein tyrosine phosphatase SHP2. Importantly, certain SHP2 mutations such as Q510E can cause a particularly severe form of HCM with heart failure in infancy. Due to lack of insight into the underlying pathomechanisms, an effective custom-tailored therapy to prevent heart failure in these patients has not yet been found...
September 11, 2017: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/28904253/genetic-variants-of-ramp2-and-clr-are-associated-with-stroke
#12
Teruhide Koyama, Nagato Kuriyama, Etsuko Ozaki, Daisuke Matsui, Isao Watanabe, Wakiko Takeshita, Komei Iwai, Yoshiyuki Watanabe, Masahiro Nakatochi, Chisato Shimanoe, Keitaro Tanaka, Isao Oze, Hidemi Ito, Hirokazu Uemura, Sakurako Katsuura-Kamano, Rie Ibusuki, Ippei Shimoshikiryo, Naoyuki Takashima, Aya Kadota, Sayo Kawai, Tae Sasakabe, Rieko Okada, Asahi Hishida, Mariko Naito, Kiyonori Kuriki, Kaori Endoh, Norihiro Furusyo, Hiroaki Ikezaki, Sadao Suzuki, Akihiro Hosono, Haruo Mikami, Yohko Nakamura, Michiaki Kubo, Kenji Wakai
AIM: Stroke is associated closely with vascular homeostasis, and several complex processes and interacting pathways, which involve various genetic and environmental factors, contribute to the risk of stroke. Although adrenomedullin (ADM) has a number of physiological and vasoprotective functions, there are few studies of the ADM receptor system in humans. The ADM receptor comprises a calcitonin-receptor-like receptor (CLR) and receptor activity-modifying proteins (RAMPs). We analyzed single nucleotide polymorphisms (SNPs) in the RAMP2 and CLR genes to determine their association with stroke in the light of gene-environment interactions...
September 14, 2017: Journal of Atherosclerosis and Thrombosis
https://www.readbyqxmd.com/read/28903782/natural-genetic-variation-of-the-cardiac-transcriptome-in-non-diseased-donors-and-patients-with-dilated-cardiomyopathy
#13
Matthias Heinig, Michiel E Adriaens, Sebastian Schafer, Hanneke W M van Deutekom, Elisabeth M Lodder, James S Ware, Valentin Schneider, Leanne E Felkin, Esther E Creemers, Benjamin Meder, Hugo A Katus, Frank Rühle, Monika Stoll, François Cambien, Eric Villard, Philippe Charron, Andras Varro, Nanette H Bishopric, Alfred L George, Cristobal Dos Remedios, Aida Moreno-Moral, Francesco Pesce, Anja Bauerfeind, Franz Rüschendorf, Carola Rintisch, Enrico Petretto, Paul J Barton, Stuart A Cook, Yigal M Pinto, Connie R Bezzina, Norbert Hubner
BACKGROUND: Genetic variation is an important determinant of RNA transcription and splicing, which in turn contributes to variation in human traits, including cardiovascular diseases. RESULTS: Here we report the first in-depth survey of heart transcriptome variation using RNA-sequencing in 97 patients with dilated cardiomyopathy and 108 non-diseased controls. We reveal extensive differences of gene expression and splicing between dilated cardiomyopathy patients and controls, affecting known as well as novel dilated cardiomyopathy genes...
September 14, 2017: Genome Biology
https://www.readbyqxmd.com/read/28902362/histone-lysine-methylation-and-congenital-heart-disease-from-bench-to-bedside-review
#14
Xin Yi, Xuejun Jiang, Xiaoyan Li, Ding-Sheng Jiang
Histone post-translational modifications (PTM) as one of the key epigenetic regulatory mechanisms that plays critical role in various biological processes, including regulating chromatin structure dynamics and gene expression. Histone lysine methyltransferase contributes to the establishment and maintenance of differential histone methylation status, which can recognize histone methylated sites and build an association between these modifications and their downstream processes. Recently, it was found that abnormalities in the histone lysine methylation level or pattern may lead to the occurrence of many types of cardiovascular diseases, such as congenital heart disease (CHD)...
October 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28901971/xenotransplantation-past-present-and-future
#15
Burcin Ekser, Ping Li, David K C Cooper
PURPOSE OF REVIEW: To review the progress in the field of xenotransplantation with special attention to most recent encouraging findings which will eventually bring xenotransplantation to the clinic in the near future. RECENT FINDINGS: Starting from early 2000, with the introduction of galactose-α1,3-galactose (Gal)-knockout pigs, prolonged survival especially in heart and kidney xenotransplantation was recorded. However, remaining antibody barriers to non-Gal antigens continue to be the hurdle to overcome...
September 8, 2017: Current Opinion in Organ Transplantation
https://www.readbyqxmd.com/read/28901522/glutathione-system-in-wolfram-syndrome-1%C3%A2-deficient-mice
#16
Rando Porosk, Kalle Kilk, Riina Mahlapuu, Anton Terasmaa, Ursel Soomets
Wolfram syndrome 1 (WS) is a rare neurodegenerative disease that is caused by mutations in the Wolfram syndrome 1 (WFS1) gene, which encodes the endoplasmic reticulum (ER) glycoprotein wolframin. The pathophysiology of WS is ER stress, which is generally considered to induce oxidative stress. As WS has a well‑defined monogenetic origin and a model for chronic ER stress, the present study aimed to characterize how glutathione (GSH), a major intracellular antioxidant, was related to the disease and its progression...
August 31, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28901173/cyclin-d2-is-a-critical-mediator-of-exercise-induced-cardiac-hypertrophy
#17
Stephen W Luckey, Chris D Haines, John P Konhilas, Elizabeth D Luczak, Antke Messmer-Kratzsch, Leslie A Leinwand
A number of signaling pathways underlying pathological cardiac hypertrophy have been identified. However, few studies have probed the functional significance of these signaling pathways in the context of exercise or physiological pathways. Exercise studies were performed on females from six different genetic mouse models that have been shown to exhibit alterations in pathological cardiac adaptation and hypertrophy. These include mice expressing constitutively active glycogen synthase kinase-3β (GSK-3βS9A), an inhibitor of CaMK II (AC3-I), both GSK-3βS9A and AC3-I (GSK-3βS9A/AC3-I), constitutively active Akt (myrAkt), mice deficient in MAPK/ERK kinase kinase-1 (MEKK1(-/-)), and mice deficient in cyclin D2 (cyclin D2(-/-))...
January 1, 2017: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/28900912/the-stim-orai-pathway-light-operated-ca-2-entry-through-engineered-crac-channels
#18
Guolin Ma, Shufan Wen, Yun Huang, Yubin Zhou
Ca(2+) signals regulate a plethora of cellular functions that include muscle contraction, heart beating, hormone secretion, lymphocyte activation, gene expression, and metabolism. To study the impact of Ca(2+) signals on biological processes, pharmacological tools and caged compounds have been commonly applied to induce fluctuations of intracellular Ca(2+) concentrations. These conventional approaches, nonetheless, lack rapid reversibility and high spatiotemporal resolution. To overcome these disadvantages, we and others have devised a series of photoactivatable genetically encoded Ca(2+) actuators (GECAs) by installing light sensitivities into a bona fide highly selective Ca(2+) channel, the Ca(2+) release-activated Ca(2+) (CRAC) channel...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28900153/genetic-ablation-of-fgf23-or-klotho-does-not-modulate-experimental-heart-hypertrophy-induced-by-pressure-overload
#19
Svetlana Slavic, Kristopher Ford, Magalie Modert, Amarela Becirovic, Stephan Handschuh, Andreas Baierl, Nejla Katica, Ute Zeitz, Reinhold G Erben, Olena Andrukhova
Left ventricular hypertrophy (LVH) ultimately leads to heart failure in conditions of increased cardiac pre- or afterload. The bone-derived phosphaturic and sodium-conserving hormone fibroblast growth factor-23 (FGF23) and its co-receptor Klotho have been implicated in the development of uremic LVH. Using transverse aortic constriction (TAC) in gene-targeted mouse models, we examine the role of Fgf23 and Klotho in cardiac hypertrophy and dysfunction induced by pressure overload. TAC profoundly increases serum intact Fgf23 due to increased cardiac and bony Fgf23 transcription and downregulation of Fgf23 cleavage...
September 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28899996/prediction-and-subtyping-of-hypertension-from-pan-tissue-transcriptomic-and-genetic-analyses
#20
Mahashweta Basu, Mahfuza Sharmin, Avinash Das, Nishanth Ulhas Nair, Kun Wang, Joo Sang Lee, Yen-Pei Christy Chang, Eytan Ruppin, Sridhar Hannenhalli
Hypertension is a complex systemic disease involving transcriptional changes in multiple organs. Here we systematically investigate the pan-tissue transcriptional and genetic landscape of hypertension spanning dozens of tissues in hundreds of individuals. We find that in several tissues previously identified hypertension-linked genes are dysregulated and the gene expression profile is predictive of hypertension. Importantly, many expression quantitative trait loci (eQTL) SNPs associated with the population variance of the dysregulated genes are linked with blood pressure in an independent genome-wide association study, suggesting that the functional effect of hypertension-associated SNPs may be mediated through tissue-specific transcriptional dysregulation...
September 12, 2017: Genetics
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