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Cardiac genetics

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https://www.readbyqxmd.com/read/29141318/-ras-associated-autoimmune-leukoproliferative-disorder-a-report-of-2-cases-and-literature-review
#1
T Y He, C R Li, Y Xia, F F Liang, Y Luo, J Yang
Objective: To investigate the clinical features and genetic characteristics of cases with Ras-associated autoimmune leukoproliferative disorder(RALD). Method: Characteristics of clinical data and gene mutation of the first two cases in China with RALD were retrospectively analyzed. The related literature was searched by using search terms "NRAS" , "KRAS" or "RALD" . Result: Case1, a seven-year-seven-month old girl, was admitted due to "thrombocytopenia and splenomegaly for three years" . Palpation showed enlargement of submandibular lymph nodes and hepatosplenomegaly...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29138928/mechanisms-of-drug-binding-to-voltage-gated-sodium-channels
#2
M E O'Leary, M Chahine
Voltage-gated sodium (Na(+)) channels are expressed in virtually all electrically excitable tissues and are essential for muscle contraction and the conduction of impulses within the peripheral and central nervous systems. Genetic disorders that disrupt the function of these channels produce an array of Na(+) channelopathies resulting in neuronal impairment, chronic pain, neuromuscular pathologies, and cardiac arrhythmias. Because of their importance to the conduction of electrical signals, Na(+) channels are the target of a wide variety of local anesthetic, antiarrhythmic, anticonvulsant, and antidepressant drugs...
November 15, 2017: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/29138229/genomic-structural-variations-lead-to-dysregulation-of-important-coding-and-non-coding-rna-species-in-dilated-cardiomyopathy
#3
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/29136112/local-production-of-tenascin-c-acts-as-a-trigger-for-monocyte-macrophage-recruitment-that-provokes-cardiac-dysfunction
#4
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/29133215/myocardial-infarction-and-gut-microbiota-an-incidental-connection
#5
REVIEW
Sepideh Zununi Vahed, Abolfazl Barzegari, Marisol Zuluaga, Didier Letourneur, Graciela Pavon-Djavid
Myocardial infarction (MI) is the main cause of cardiovascular crises that entails serious concerns in mortality, morbidity, and cost to the society. The main therapeutic goal of modern cardiology is to develop novel approaches to minimize inflammation, myocardial necrosis/apoptosis, and enhance cardiac repair after MI. Though MI can be affected by genetic and environmental factors, the search for targeting lifestyle factors has been of greater interest. One such potential factor is the microbiota, the human intestinal microbial community...
November 10, 2017: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/29132927/whole-exome-sequencing-identified-a-pathogenic-mutation-in-ryr2-in-a-chinese-family-with-unexplained-sudden-death
#6
Yubi Lin, Siqi He, Zili Liao, Ruiling Feng, Ruilin Liu, Yongzheng Peng, Nan Yu, Hang Qi, Jia Chen, Zifeng Huang, Heping Lei, Yang Liu, Fang Rao, Chunyu Deng, Yumei Xue, Guolin Zhang, Bin Zhang, Hua Yao, Shulin Wu
OBJECTIVE: This study aimed to identify the pathogenic mutation in a Chinese family with unexplained sudden death (USD) or occasional syncope. MATERIALS AND METHODS: Whole exome sequencing and target capture sequencing were respectively conducted for two related patients. The genetic data was screened using the 1000 genomes project and SNP database (PubMed), and the identified mutations were assessed for predicted pathogenicity using the SIFT and Polyphen-2 algorithms...
October 10, 2017: Journal of Electrocardiology
https://www.readbyqxmd.com/read/29131159/enhancing-the-precision-of-genetic-lineage-tracing-using-dual-recombinases
#7
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/29130351/the-gene-therapy-resource-program-a-decade-of-dedication-to-translational-research-by-the-national-heart-lung-and-blood-institute
#8
Terence R Flotte, Eric Daniels, Janet Benson, Jenee M Bevett-Rose, Kenneth Cornetta, Margaret Diggins, Julie Johnston, Susan Sepelak, Johannes Van Der Loo, James M Wilson, Cheryl L McDonald
Over a ten-year period, the Gene Therapy Resource Program (GTRP) of the National Heart Lung and Blood Institute (NHLBI) has provided a set of core services to investigators to facilitate the clinical translation of gene therapy. These services have included a preclinical (research-grade) vector production core; current Good Manufacturing Practice (cGMP) clinical-grade vector cores for recombinant adeno-associated virus (rAAV) and lentivirus vectors; a pharmacology and toxicology core; and a coordinating center to manage program logistics and to provide regulatory and financial support to early phase clinical trials...
November 12, 2017: Human Gene Therapy. Clinical Development
https://www.readbyqxmd.com/read/29129812/influence-of-lgals3-gene-polymorphisms-on-susceptibility-and-prognosis-of-dilated-cardiomyopathy-in-a-northern-han-chinese-population
#9
Yuhui Zhang, Yunhong Wang, Mei Zhai, Tianyi Gan, Xuemei Zhao, Rongcheng Zhang, Tao An, Yan Huang, Qiong Zhou, Jian Zhang
BACKGROUND: Galectin-3 plays an important role in modulating cardiac inflammation and fibrosis. It also takes part in the pathways underlying cardiac remodeling. Therefore, LGALS3 gene, encoding galectin-3 protein, is a promising candidate for the genetic study of dilated cardiomyopathy (DCM). To date, there has been no research evaluating the association between LGALS3 gene polymorphisms and the susceptibility and prognosis of DCM. METHODS AND RESULTS: Genotyping of 4 single nucleotide polymorphisms (SNPs) in the LGALS3 gene, which were reported to be functional in the literature, was performed in 279 unrelated clinically diagnosed DCM patients and 363 apparently healthy controls from Northern Han Chinese population using iPLEX SNP Genotyping analysis on a Sequenom MassARRAY System...
November 9, 2017: Gene
https://www.readbyqxmd.com/read/29128679/early-onset-epileptic-encephalopathy-with-de-novo-scn8a-mutation
#10
Yangyang Xiao, Jie Xiong, Ding'an Mao, Lingjuan Liu, Jian Li, Xingfang Li, Haiyan Luo, Liqun Liu
Early-onset epileptic encephalopathies (EOEEs) are clinically and genetically heterogeneous disorders characterized by intractable seizures and unremitting interictal paroxysmal epileptiform activity. Consequently, these syndromes impair neurodevelopment during the first year of life. Currently, the etiology of these disorders is largely unknown. In this study, Childhood-Onset Epilepsy Gene Panel Testing (containing 511 epilepsy-related genes) was performed in a parent-offspring trio. In this family, the son had refractory seizures, intellectual disability, and motor abnormalities, and he was diagnosed with EOEE...
October 28, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/29128504/biophysical-comparison-of-sodium-currents-in-native-cardiac-myocytes-and-human-induced-pluripotent-stem-cell-derived-cardiomyocytes
#11
Robert J Goodrow, Suveer Desai, Jacqueline A Treat, Brian K Panama, Mayurika Desai, Vladislav V Nesterenko, Jonathan M Cordeiro
INTRODUCTION: Human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) are used for safety pharmacology and to investigate genetic diseases affecting cardiac ion channels. It is unclear whether adult myocytes or hiPSC-CMs are the better platform for cardiac safety pharmacology. We examined the biophysical and molecular properties of INa in adult myocytes and hiPSC-CMs. METHODS: hiPSC-CMs were plated at low density. Atrial and ventricular cells were obtained from dog hearts...
November 8, 2017: Journal of Pharmacological and Toxicological Methods
https://www.readbyqxmd.com/read/29127730/comprehensive-study-of-three-novel-cases-of-tfeb-amplified-renal-cell-carcinoma-and-review-of-the-literature-evidence-for-a-specific-entity-with-poor-outcome
#12
Lionel Mendel, Damien Ambrosetti, Yohan Bodokh, Mélanie Ngo-Mai, Matthieu Durand, Cécile Simbsler-Michel, Mickael Delhorbe, Jean Amiel, Florence Pedeutour
The first case of TFEB-amplified renal cell carcinoma was published in 2014. Since then, 29 additional cases have been described. The prognostic and therapeutic implications of this rare entity remain to be determined. We describe here the clinical, histological and genetic features of three novel cases, as well as the first complete literature review. Four tumors were examined from three patients selected from the large collection of genetically characterized renal tumors in our institution. The pathological and immunohistochemical features were centrally reviewed by a uropathologist...
November 11, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/29127183/genome-wide-association-study-of-pr-interval-in-hispanics-latinos-identifies-novel-locus-at-id2
#13
Amanda A Seyerle, Henry J Lin, Stephanie M Gogarten, Adrienne Stilp, Raul Méndez Giráldez, Elsayed Soliman, Antoine Baldassari, Mariaelisa Graff, Susan Heckbert, Kathleen F Kerr, Charles Kooperberg, Carlos Rodriguez, Xiuqing Guo, Jie Yao, Nona Sotoodehnia, Kent D Taylor, Eric A Whitsel, Jerome I Rotter, Cathy C Laurie, Christy Avery
OBJECTIVE: PR interval (PR) is a heritable electrocardiographic measure of atrial and atrioventricular nodal conduction. Changes in PR duration may be associated with atrial fibrillation, heart failure and all-cause mortality. Hispanic/Latino populations have high burdens of cardiovascular morbidity and mortality, are highly admixed and represent exceptional opportunities for novel locus identification. However, they remain chronically understudied. We present the first genome-wide association study (GWAS) of PR in 14 756 participants of Hispanic/Latino ancestry from three studies...
November 10, 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/29124014/a-molecular-analysis-of-the-gaa-gene-and-clinical-spectrum-in-38-patients-with-pompe-disease-in-japan
#14
Yasuyuki Fukuhara, Naoko Fuji, Narutoshi Yamazaki, Asami Hirakiyama, Tetsuharu Kamioka, Joo-Hyun Seo, Ryuichi Mashima, Motomichi Kosuga, Torayuki Okuyama
Pompe disease is an autosomal recessive disorder caused by acid α-glucosidase (GAA) deficiency, which results in the accumulation of glycogen in lysosomes in multiple tissues, including cardiac, skeletal, and smooth muscle cells. Thus far, 558 sequence variants of the GAA gene have been published in the Pompe Disease Mutation Database, and some mutations appear with considerable frequency in particular ethnic groups, such as Caucasians, Taiwanese, Chinese, and Koreans. However, the GAA mutation pattern in Japanese patients remains poorly understood...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29122631/mitral-valve-prolapse-multimodality-imaging-and-genetic-insights
#15
REVIEW
Purvi Parwani, Jean-Francois Avierinos, Robert A Levine, Francesca Nesta Delling
Mitral valve prolapse (MVP) is a common heritable valvulopathy affecting approximately 2.4% of the population. It is the most important cause of primary mitral regurgitation (MR) requiring surgery. MVP is characterized by fibromyxomatous changes and displacement of one or both mitral leaflets into the left atrium. Echocardiography represents the primary diagnostic modality for assessment of MVP. Accurate quantitation of ventricular volumes and function for surgical planning in asymptomatic severe MR can be provided with both echocardiography and cardiac magnetic resonance ...
November 6, 2017: Progress in Cardiovascular Diseases
https://www.readbyqxmd.com/read/29121498/cardiac-involvement-in-myotonic-dystrophy-the-role-of-troponins-and-n-terminal-pro-b-type-natriuretic-peptide
#16
Rea Valaperta, Claudia De Siena, Rosanna Cardani, Fortunata Lombardia, Edina Cenko, Benedetta Rampoldi, Barbara Fossati, Elisa Brigonzi, Roberta Rigolini, Paola Gaia, Giovanni Meola, Elena Costa, Raffaele Bugiardini
BACKGROUND AND AIMS: Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are dominant inherited muscular dystrophies with multiple systemic involvement, often producing cardiac injury. This study sought to determine the clinical significance of elevated high sensitivity cardiac troponin T and I (hs-cTnT and hs-cTnI), and N-terminal pro B-type natriuretic peptide (NT-pro-BNP) in this population. METHODS: Sixty DM patients (35 men and 25 women; mean age: 45.1 years, range: 12-73 years) underwent clinical cardiac investigations and measurements of serum hs-cTnT, hs-cTnI, creatine kinase (CK), and NT-proBNP...
October 21, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/29120023/role-of-liver-magnetic-resonance-imaging-in-hyperferritinaemia-and-the-diagnosis-of-iron-overload
#17
Axel Ruefer, Christine Bapst, Rudolf Benz, Jens Bremerich, Nathan Cantoni, Laura Infanti, Kaveh Samii, Mathias Schmid, Jean-Paul Vallée
Hyperferritinaemia is a frequent clinical problem. Elevated serum ferritin levels can be detected in different genetic and acquired diseases and can occur with or without anaemia. It is therefore important to determine whether hyperferritinaemia is due to iron overload or due to a secondary cause. The main causes of iron overload are intestinal iron hyperabsorption disorders and transfusion-dependent disorders. Iron homeostasis and iron overload are quantified by different diagnostic approaches. The evaluation of serum ferritin and transferrin saturation is the first diagnostic step to identify the cause of hyperferritinaemia...
November 9, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/29119312/when-signalling-goes-wrong-pathogenic-variants-in-structural-and-signalling-proteins-causing-cardiomyopathies
#18
Mehroz Ehsan, He Jiang, Kate L Thomson, Katja Gehmlich
Cardiomyopathies are a diverse group of cardiac disorders with distinct phenotypes, depending on the proteins and pathways affected. A substantial proportion of cardiomyopathies are inherited and those will be the focus of this review article. With the wide application of high-throughput sequencing in the practice of clinical genetics, the roles of novel genes in cardiomyopathies are recognised. Here, we focus on a subgroup of cardiomyopathy genes [TTN, FHL1, CSRP3, FLNC and PLN, coding for Titin, Four and a Half LIM domain 1, Muscle LIM Protein, Filamin C and Phospholamban, respectively], which, despite their diverse biological functions, all have important signalling functions in the heart, suggesting that disturbances in signalling networks can contribute to cardiomyopathies...
November 8, 2017: Journal of Muscle Research and Cell Motility
https://www.readbyqxmd.com/read/29117554/downregulation-of-the-apelinergic-axis-accelerates-aging-whereas-its-systemic-restoration-improves-the-mammalian-healthspan
#19
Rahul Rai, Asish K Ghosh, Mesut Eren, Alexander R Mackie, Daniel C Levine, So-Youn Kim, Jonathan Cedernaes, Veronica Ramirez, Daniele Procissi, Layton H Smith, Teresa K Woodruff, Joseph Bass, Douglas E Vaughan
Aging drives the occurrence of numerous diseases, including cardiovascular disease (CVD). Recent studies indicate that blood from young mice reduces age-associated pathologies. However, the "anti-aging" factors in juvenile circulation remain poorly identified. Here, we characterize the role of the apelinergic axis in mammalian aging and identify apelin as an anti-aging factor. The expression of apelin (apln) and its receptor (aplnr) exhibits an age-dependent decline in multiple organs. Reduced apln signaling perturbs organismal homeostasis; mice harboring genetic deficiency of aplnr or apln exhibit enhanced cardiovascular, renal, and reproductive aging...
November 7, 2017: Cell Reports
https://www.readbyqxmd.com/read/29116126/development-of-multivariable-models-to-predict-change-in-body-mass-index-within-a-clinical-trial-population-of-psychotic-individuals
#20
Rebecca N S Harrison, Fiona Gaughran, Robin M Murray, Sang Hyuck Lee, Jose Paya Cano, David Dempster, Charles J Curtis, Danai Dima, Hamel Patel, Simone de Jong, Gerome Breen
Many antipsychotics promote weight gain, which can lead to non-compliance and relapse of psychosis. By developing models that accurately identify individuals at greater risk of weight gain, clinicians can make informed treatment decisions and target intervention measures. We examined clinical, genetic and expression data for 284 individuals with psychosis derived from a previously published randomised controlled trial (IMPACT). These data were used to develop regression and classification models predicting change in Body Mass Index (BMI) over one year...
November 7, 2017: Scientific Reports
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