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https://www.readbyqxmd.com/read/29150149/pregnancy-and-heart-disease-pregnancy-associated-hypertension-and-peripartum-cardiomyopathy
#1
Tobias Jonathan Pfeffer, Denise Hilfiker-Kleiner
Cardiovascular diseases are major complications in pregnancy worldwide and the number of patients who develop cardiac problems during pregnancy is increasing. Pregnancy-associated hypertensive complications such as pre-eclampsia (PE) or peripartum cardiomyopathy (PPCM) are potentially life-threatening heart diseases emerging during pregnancy, under delivery or in the first postpartal months in previously healthy women. Both disease entities display substantial morbidity and mortality in the acute phase. Long-term effects are just beginning to be evaluated...
October 31, 2017: Current Problems in Cardiology
https://www.readbyqxmd.com/read/29149222/personalized-medicine-and-hispanic-health-improving-health-outcomes-and-reducing-health-disparities-a-national-heart-lung-and-blood-institute-workshop-report
#2
M Larissa Avilés-Santa, John Heintzman, Nangel M Lindberg, Rafael Guerrero-Preston, Kenneth Ramos, Ana L Abraído-Lanza, Jonca Bull, Adolph Falcón, Mary Ann McBurnie, Ernest Moy, George Papanicolaou, Ileana L Piña, Jennifer Popovic, Shakira F Suglia, Miguel A Vázquez
Persons of Hispanic/Latino descent may represent different ancestries, ethnic and cultural groups and countries of birth. In the U.S., the Hispanic/Latino population is projected to constitute 29% of the population by 2060. A personalized approach focusing on individual variability in genetics, environment, lifestyle and socioeconomic determinants of health may advance the understanding of some of the major factors contributing to the health disparities experienced by Hispanics/Latinos and other groups in the U...
2017: BMC Proceedings
https://www.readbyqxmd.com/read/29149036/identification-of-the-caprine-keratin-associated-protein-20-2-kap20-2-gene-and-its-effect-on-cashmere-traits
#3
Jiqing Wang, Longjie Che, Jon G H Hickford, Huitong Zhou, Zhiyun Hao, Yuzhu Luo, Jiang Hu, Xiu Liu, Shaobin Li
The gene encoding the high glycine/tyrosine keratin-associated protein 20-2 (KAP20-2) gene has been described in humans, but has not been identified in any livestock species. A search for similar sequences in the caprine genome using the human KAP20-2 gene (KRTAP20-2) revealed a homologous sequence on chromosome 1. Three different banding patterns representing distinct sequences (A-C) in Longdong cashmere goats were identified using polymerase chain reaction-single stranded conformational polymorphism (PCR-SSCP) analysis...
November 17, 2017: Genes
https://www.readbyqxmd.com/read/29148067/should-theophylline-be-added-to-the-j-wave-syndrome-therapeutic-armamentarium
#4
EDITORIAL
Charles Antzelevitch, Sami Viskin
The substrate for both early repolarization syndrome (ERS) and Brugada syndrome (BrS), the so-called J wave syndromes, has been shown to develop as a consequence of genetic variants causing a loss of function of inward currents such sodium (INa ) and calcium (ICa ) channel currents or a gain of function in outward currents such as the transient outward current (Ito ). These changes in ion channel function result in an outward shift of the balance of currents active during the early phases of the epicardial action potential in the right ventricular outflow tract (RVOT) of the heart in the case BrS and in the inferior left ventricle in the case of ERS...
November 16, 2017: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/29146733/effects-of-chronically-increased-vegf-a-on-the-aging-heart
#5
Alexander G Marneros
Whether approaches to chronically increase VEGF-A in the heart may have beneficial effects and prevent the development of heart failure, in part by improving cardiac perfusion, or whether this increase could have detrimental effects on cardiac performance in the aging heart, has not been tested yet. In this study, a genetic mouse model with a chronic increase in VEGF-A in the heart is shown to have increased cardiac angiogenesis and develop cardiac hypertrophy with enhanced basal cardiac performance with age progression...
November 16, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29146485/in-frame-variants-in-flna-proximal-rod-1-domain-associate-with-a-predominant-cardiac-valvular-phenotype
#6
Luis Fernández, Jair Tenorio, Coral Polo-Vaquero, Elena Vallespín, María Palomares-Bralo, Sixto García-Miñaúr, Fernando Santos-Simarro, Pedro Arias, Hernán Carnicer, Silvina Giannivelli, Juan Medina, Rosa Pérez-Piaya, Jorge Solís, Mónica Rodríguez, Alexandra Villagrá, Laura Rodríguez, Julián Nevado, Víctor Martínez-Glez, Karen E Heath, Pablo Lapunzina
INTRODUCTION AND OBJECTIVES: X-linked cardiac valvular dysplasia is a rare form of male-specific congenital heart defect mainly characterized by myxomatous degeneration of the atrioventricular valves with variable hemodynamic consequences. It is caused by genetic defects in FLNA-encoded filamin A, a widely expressed actin-binding protein that regulates cytoskeleton organization. Filamin A loss of function has also been associated with often concurring neurologic and connective tissue manifestations, with mutations in the first half of the Rod 1 domain apparently expressing the full cardiac phenotype...
November 13, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/29146190/newly-developed-selective-immunoinactivation-assay-revealed-reduction-in-adipose-triglyceride-lipase-activity-in-peripheral-leucocytes-from-patients-with-idiopathic-triglyceride-deposit-cardiomyovasculopathy
#7
Atsuko Takagi, Yasuyuki Ikeda, Kunihisa Kobayashi, Kazuhiro Kobayashi, Yoshihiko Ikeda, Junji Kozawa, Hideyuki Miyauchi, Ming Li, Chikako Hashimoto, Yasuhiro Hara, Satoshi Yamaguchi, Akira Suzuki, Tatsushi Toda, Hironori Nagasaka, Ken-Ichi Hirano
Triglyceride deposit cardiomyovasculopathy (TGCV) is a rare and newly identified disease among patients requiring cardiac transplantation. TGCV is characterized by cardiomyocyte steatosis and triglyceride (TG)-deposit atherosclerosis, resulting from the abnormal intracellular metabolism of TG. TGCV is classified into primary and idiopathic types. Primary TGCV carries ultra-rare genetic mutations in the adipose triglyceride lipase (ATGL), a rate-liming enzyme that hydrolyzes intracellular TG in adipose and non-adipose tissues...
November 13, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29146153/the-stress-kinase-jnk-regulates-gap-junction-cx43-gene-expression-and-promotes-atrial-fibrillation-in-the-aged-heart
#8
Jiajie Yan, Justin K Thomson, Weiwei Zhao, Xiaomin Wu, Xianlong Gao, Dominic DeMarco, Wei Kong, Min Tong, Jun Sun, Mamdouh Bakhos, Vladimir G Fast, Qingrong Liang, Sumanth D Prabhu, Xun Ai
BACKGROUND: The stress kinase c-jun N-terminal kinase (JNK) is critical in the pathogenesis of cardiac diseases associated with an increased incidence of atrial fibrillation (AF), the most common arrhythmia in the elderly. We recently discovered that JNK activation is linked to the loss of gap junction connexin43 (Cx43) and enhanced atrial arrhythmogenicity. However, direct evidence for JNK-mediated impairment of intercellular coupling (cell-cell communication) in the intact aged atrium is lacking, as is evidence for whether and how JNK suppresses Cx43 in the aged human atrium...
November 13, 2017: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/29142194/transient-cardiomyocyte-fusion-regulates-cardiac-development-in-zebrafish
#9
Suphansa Sawamiphak, Zacharias Kontarakis, Alessandro Filosa, Sven Reischauer, Didier Y R Stainier
Cells can sacrifice their individuality by fusing, but the prevalence and significance of this process are poorly understood. To approach these questions, here we generate transgenic reporter lines in zebrafish to label and specifically ablate fused cells. In addition to skeletal muscle cells, the reporters label cardiomyocytes starting at an early developmental stage. Genetic mosaics generated by cell transplantation show cardiomyocytes expressing both donor- and host-derived transgenes, confirming the occurrence of fusion in larval hearts...
November 15, 2017: Nature Communications
https://www.readbyqxmd.com/read/29141989/analysis-of-copy-number-variants-on-chromosome-21-in-down-syndrome-associated-congenital-heart-defects
#10
Benjamin L Rambo-Martin, Jennifer G Mulle, David J Cutler, Lora J H Bean, Tracie C Rosser, Kenneth J Dooley, Clifford Cua, George Capone, Cheryl L Maslen, Roger H Reeves, Stephanie L Sherman, Michael E Zwick
One in five people with Down syndrome (DS) are born with an atrioventricular septal defect (AVSD), an incidence 2,000 times higher than in the euploid population. The genetic loci that contribute to this risk are poorly understood. In this study, we tested two hypotheses: 1) individuals with DS carrying chromosome 21 copy number variants (CNVs) that interrupt exons may be protected from AVSD, because these CNVs return AVSD susceptibility loci back to disomy, and 2) individuals with DS carrying chromosome 21 genes spanned by microduplications are at greater risk for AVSD because these microduplications boost the dosage of AVSD susceptibility loci beyond a tolerable threshold...
November 15, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/29141547/cardioprotective-effects-of-serca2a-overexpression-against-ischemia-reperfusion-induced-injuries-in-rats
#11
Yan Jian, Li-Li Tian, Lin-Hui Wang, Xiao-Dong Zhao, Jing-Wei Chen, Koji Murao, Wei Zhu, Liang Dong, Guo-Qing Wang, Wan-Ping Sun, Guo-Xing Zhang
AIMS: The aim of the present study is to assess how genetically increased Sarcoplasmic reticulum Ca2+-ATPase (Serca2a) expression affects cardiac injury after ischemia/reperfusion (I/R) exposure and the related mechanisms involved. METHODS AND RESULTS: Rats were subjected to left anterior descending coronary artery (LAD) occlusion for 30 min followed by a 24-hour reperfusion. Cardiac function analysis revealed that cardiac function dramatically improved in Serca2a transgenic rats (Serca2aTG) rats compared to wild type (WT) rats...
November 10, 2017: Current Gene Therapy
https://www.readbyqxmd.com/read/29141503/association-of-the-genetic-and-traditional-risk-factors-of-ischaemic-heart-disease-with-stemi-and-nstemi-development
#12
Diana Žaliaduonytė-Pekšienė, Vaiva Lesauskaitė, Rasa Liutkevičienė, Vytenis Tamakauskas, Vilius Kviesulaitis, Giedrė Šinkūnaitė-Maršalkienė, Sandrita Šimonytė, Simonita Mačiulskytė, Eglė Tamulevičiūtė-Prascienė, Olivija Gustienė, Abdonas Tamošiūnas, Remigijus Žaliūnas
INTRODUCTION: To evaluate the influence of traditional risk factors of ischaemic heart disease and genetic factors to predict different types of acute coronary syndromes. MATERIALS AND METHODS: Five hundred and twenty-three patients with acute coronary syndromes (393 with ST elevation myocardial infarction (STEMI) and 130 with non-ST elevation myocardial infarction (NSTEMI)) comprised the study group. The control group consisted of 645 subjects free from symptoms of ischaemic heart disease and stroke...
October 2017: Journal of the Renin-angiotensin-aldosterone System: JRAAS
https://www.readbyqxmd.com/read/29138229/genomic-structural-variations-lead-to-dysregulation-of-important-coding-and-non-coding-rna-species-in-dilated-cardiomyopathy
#13
Jan Haas, Stefan Mester, Alan Lai, Karen S Frese, Farbod Sedaghat-Hamedani, Elham Kayvanpour, Tobias Rausch, Rouven Nietsch, Jes-Niels Boeckel, Avisha Carstensen, Mirko Völkers, Carsten Dietrich, Dietmar Pils, Ali Amr, Daniel B Holzer, Diana Martins Bordalo, Daniel Oehler, Tanja Weis, Derliz Mereles, Sebastian Buss, Eva Riechert, Emil Wirsz, Maximilian Wuerstle, Jan O Korbel, Andreas Keller, Hugo A Katus, Andreas E Posch, Benjamin Meder
The transcriptome needs to be tightly regulated by mechanisms that include transcription factors, enhancers, and repressors as well as non-coding RNAs. Besides this dynamic regulation, a large part of phenotypic variability of eukaryotes is expressed through changes in gene transcription caused by genetic variation. In this study, we evaluate genome-wide structural genomic variants (SVs) and their association with gene expression in the human heart. We detected 3,898 individual SVs affecting all classes of gene transcripts (e...
November 14, 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/29137034/uniparental-disomy-and-prenatal-phenotype-two-case-reports-and-review
#14
Xiaofei Li, Yan Liu, Song Yue, Li Wang, Tiejuan Zhang, Cuixia Guo, Wenjie Hu, Karl-Oliver Kagan, Qingqing Wu
RATIONALE: Uniparental disomy (UPD) gives a description of the inheritance of both homologues of a chromosome pair from the same parent. The consequences of UPD depend on the specific chromosome/segment involved and its parental origin. PATIENT CONCERNS: We report prenatal phenotypes of 2 rare cases of UPD. DIAGNOSES: The prenatal phenotype of case 1 included sonographic markers such as enlarged nuchal translucency (NT), absent nasal bone, short femur and humerus length, and several structural malformations involving Dandy-Walker malformation and congenital heart defects...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29136336/effect-of-polymorphisms-on-the-pharmacokinetics-pharmacodynamics-and-safety-of-sertraline-in-healthy-volunteers
#15
Miriam Saiz-Rodríguez, Carmen Belmonte, Manuel Román, Dolores Ochoa, Dora Koller, María Talegón, María C Ovejero-Benito, Rosario López-Rodríguez, Teresa Cabaleiro, Francisco Abad-Santos
Sertraline is a selective serotonin reuptake inhibitor (SSRI) widely metabolized in the liver by cytochrome P450 (CYP) enzymes. Besides, it is a P-glycoprotein substrate. Moreover, serotonin transporters and serotonin receptors are involved in its efficacy and safety. The aim of the present study was to evaluate the role of polymorphisms of metabolizing enzymes, transporters and receptors on the pharmacokinetics, pharmacodynamics and tolerability of sertraline in healthy volunteers. Forty-six healthy volunteers (24 men and 22 women) receiving a 100-mg single oral dose of sertraline were genotyped for 17 genetic variants of CYP enzymes (CYP2B6, CYP2C9, CYP2C19, CYP2D6), ATP binding cassette subfamily B member 1 (ABCB1), Solute carrier family 6 member 4 (SLC6A4), 5-Hydroxytryptamine receptor 2A (HTR2A) and 5-Hydroxytryptamine receptor 2C (HTR2C) genes...
November 14, 2017: Basic & Clinical Pharmacology & Toxicology
https://www.readbyqxmd.com/read/29136112/local-production-of-tenascin-c-acts-as-a-trigger-for-monocyte-macrophage-recruitment-that-provokes-cardiac-dysfunction
#16
Dounia Abbadi, Fanny Laroumanie, Mathilde Bizou, Joffrey Pozzo, Danièle Daviaud, Christine Delage, Denis Calise, Fréderique Gaits-Iacovoni, Marianne Dutaur, Florence Tortosa, Edith Renaud-Gabardos, Victorine Douin-Echinard, Anne-Catherine Prats, Jerome Roncalli, Angelo Parini, Nathalie Pizzinat
Aims: Tenascin-C (TNC) is an endogenous danger signal molecule strongly associated with inflammatory diseases and with poor outcome in patients with cardiomyopathies. Its function within pathological cardiac tissue during pressure overload remains poorly understood. Methods and results: We showed that TNC accumulates after 1 week of transverse aortic constriction (TAC) in the heart of 12-week-old male mice. By cross bone marrow transplantation experiments, we determined that TNC deposition relied on cardiac cells and not on haematopoietic cells...
November 10, 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/29133208/homozygous-loss-of-function-brca1-variant-causing-a-fanconi-anemia-like-phenotype-a-clinical-report-and-review-of-previous-patients
#17
Bruna L Freire, Thais K Homma, Mariana F A Funari, Antônio M Lerario, Aline de Medeiros Leal, Elvira D Rodrigues Pereira Velloso, Alexsandra C Malaquias, Alexander A L Jorge
BACKGROUND: Fanconi Anemia (FA) is a rare and heterogeneous genetic syndrome. It is associated with short stature, bone marrow failure, high predisposition to cancer, microcephaly and congenital malformation. Many genes have been associated with FA. Previously, two adult patients with biallelic pathogenic variant in Breast Cancer 1 gene (BRCA1) had been identified in Fanconi Anemia-like condition. CLINICAL REPORT: The proband was a 2.5 year-old girl with severe short stature, microcephaly, neurodevelopmental delay, congenital heart disease and dysmorphic features...
November 10, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29131159/enhancing-the-precision-of-genetic-lineage-tracing-using-dual-recombinases
#18
Lingjuan He, Yan Li, Yi Li, Wenjuan Pu, Xiuzhen Huang, Xueying Tian, Yue Wang, Hui Zhang, Qiaozhen Liu, Libo Zhang, Huan Zhao, Juan Tang, Hongbin Ji, Dongqing Cai, Zhibo Han, Zhongchao Han, Yu Nie, Shengshou Hu, Qing-Dong Wang, Ruilin Sun, Jian Fei, Fengchao Wang, Ting Chen, Yan Yan, Hefeng Huang, William T Pu, Bin Zhou
The Cre-loxP recombination system is the most widely used technology for in vivo tracing of stem or progenitor cell lineages. The precision of this genetic system largely depends on the specificity of Cre recombinase expression in targeted stem or progenitor cells. However, Cre expression in nontargeted cell types can complicate the interpretation of lineage-tracing studies and has caused controversy in many previous studies. Here we describe a new genetic lineage tracing system that incorporates the Dre-rox recombination system to enhance the precision of conventional Cre-loxP-mediated lineage tracing...
November 13, 2017: Nature Medicine
https://www.readbyqxmd.com/read/29131013/a-new-baltic-population-specific-human-genetic-marker-in-the-pmca4-gene
#19
Janis Stavusis, Inna Inashkina, Baiba Lace, Dita Pelnena, Svetlana Limborska, Andrey Khrunin, Vaidutis Kucinskas, Astrida Krumina, Linda Piekuse, Branko Zorn, Violeta Fodina, Margus Punab, Juris Erenpreiss
OBJECTIVES: The PMCA gene family consists of 4 genes and at least 21 splice variants; among these, the Ca2+ ATPase 4 (PMCA4) gene encodes a plasma membrane protein abundantly expressed in several tissues, including the kidney, heart, and sperm. Knockout of PMCA4 causes infertility due to immotile sperm in mouse models. We therefore investigated variants in this gene for potential association with infertility in groups of Estonian (n = 191) and Latvian (n = 92) men with reduced sperm motility...
November 2, 2017: Human Heredity
https://www.readbyqxmd.com/read/29130579/a-homozygous-deleterious-cdk10-mutation-in-a-patient-with-agenesis-of-corpus-callosum-retinopathy-and-deafness
#20
Vincent J Guen, Simon Edvardson, Nitay D Fraenkel, Aviva Fattal-Valevski, Chaim Jalas, Irene Anteby, Avraham Shaag, Talia Dor, David Gillis, Eitan Kerem, Jacqueline A Lees, Pierre Colas, Orly Elpeleg
The primary cilium is a key organelle in numerous physiological and developmental processes. Genetic defects in the formation of this non-motile structure, in its maintenance and function, underlie a wide array of ciliopathies in human, including craniofacial, brain and heart malformations, and retinal and hearing defects. We used exome sequencing to study the molecular basis of disease in an 11-year-old female patient who suffered from growth retardation, global developmental delay with absent speech acquisition, agenesis of corpus callosum and paucity of white matter, sensorineural deafness, retinitis pigmentosa, vertebral anomalies, patent ductus arteriosus, and facial dysmorphism reminiscent of STAR syndrome, a suspected ciliopathy...
November 12, 2017: American Journal of Medical Genetics. Part A
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