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https://www.readbyqxmd.com/read/28530678/the-complex-genetics-of-hypoplastic-left-heart-syndrome
#1
Xiaoqin Liu, Hisato Yagi, Shazina Saeed, Abha S Bais, George C Gabriel, Zhaohan Chen, Kevin A Peterson, You Li, Molly C Schwartz, William T Reynolds, Manush Saydmohammed, Brian Gibbs, Yijen Wu, William Devine, Bishwanath Chatterjee, Nikolai T Klena, Dennis Kostka, Karen L de Mesy Bentley, Madhavi K Ganapathiraju, Phillip Dexheimer, Linda Leatherbury, Omar Khalifa, Anchit Bhagat, Maliha Zahid, William Pu, Simon Watkins, Paul Grossfeld, Stephen A Murray, George A Porter, Michael Tsang, Lisa J Martin, D Woodrow Benson, Bruce J Aronow, Cecilia W Lo
Congenital heart disease (CHD) affects up to 1% of live births. Although a genetic etiology is indicated by an increased recurrence risk, sporadic occurrence suggests that CHD genetics is complex. Here, we show that hypoplastic left heart syndrome (HLHS), a severe CHD, is multigenic and genetically heterogeneous. Using mouse forward genetics, we report what is, to our knowledge, the first isolation of HLHS mutant mice and identification of genes causing HLHS. Mutations from seven HLHS mouse lines showed multigenic enrichment in ten human chromosome regions linked to HLHS...
May 22, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28526571/the-antiviral-signaling-mediated-by-black-carp-mda5-is-positively-regulated-by-lgp2
#2
Ji Liu, Jun Li, Jun Xiao, Hui Chen, Liang Lu, Xu Wang, Yu Tian, Hao Feng
Melanoma differentiation-associated gene 5 (MDA5) belongs to RIG-I like receptor (RLR) family, which detects cytosolic viral RNA component in immune response. In this study, MDA5 orthologue of black carp (Mylopharyngodon piceus) has been cloned and characterized. The full-length cDNA of black carp MDA5 (bcMDA5) comprises 3244 nucleotides and the predicted bcMDA5 protein contains 984 amino acids. The constitutive transcription of bcMDA5 was extremely low in all the tested tissues, which included gill, skin, muscle, intestine, kidney, spleen, liver and heart...
May 16, 2017: Fish & Shellfish Immunology
https://www.readbyqxmd.com/read/28521150/the-effects-of-copper-oxide-nanoparticles-on-dorsoventral-patterning-convergent-extension-and-neural-and-cardiac-development-of-zebrafish
#3
Jia Xu, Qiuping Zhang, Xu Li, Sihui Zhan, Lifeng Wang, Dongyan Chen
Currently, nanoparticles are widely used in biomedicine and industry. CuO nanoparticles (CuO-NPs) are versatile materials in our daily life and their toxicity has drawn extensive attention. In this study, we concentrate on the effect of CuO-NPs on early zebrafish development. The results reveal that CuO-NPs can induce abnormal phenotypes of a smaller head and eyes and delayed epiboly. The gene expression pattern shows that CuO-NPs spatially narrow the expression of dorsal genes chordin and goosecoid and alter the expression of dlx3, ntl and hgg which are related to the cell migration of gastrulation...
May 4, 2017: Aquatic Toxicology
https://www.readbyqxmd.com/read/28513431/dissection-of-zebrafish-shha-function-using-site-specific-targeting-with-a-cre-dependent-genetic-switch
#4
Kotaro Sugimoto, Subhra P Hui, Delicia Z Sheng, Kazu Kikuchi
Despite the extensive use of zebrafish as a model organism in developmental biology and regeneration research, genetic techniques enabling conditional analysis of gene function are limited. In this study, we generated Zwitch, a Cre-dependent invertible gene-trap cassette, enabling the establishment of conditional alleles in zebrafish by generating intronic insertions via in vivo homologous recombination. To demonstrate the utility of Zwitch, we generated a conditional sonic hedgehog a (shha) allele. Homozygous shha mutants developed normally; however, shha mutant embryos globally expressing Cre exhibited strong reductions in endogenous shha and shha target gene mRNA levels and developmental defects associated with null shha mutations...
May 17, 2017: ELife
https://www.readbyqxmd.com/read/28486152/benzotriazole-ultraviolet-stabilizers-alter-the-expression-of-the-thyroid-hormone-pathway-in-zebrafish-danio-rerio-embryos
#5
Xuefang Liang, Jiajia Li, Christopher J Martyniuk, Juan Wang, Yufeng Mao, Huan Lu, Jinmiao Zha
Benzotriazole ultraviolet stabilizers (BUVSs) are widely used in industrial products as well as personal-hygiene products to protect the material or skin from harmful UV-radiation. Due to their persistence and bioaccumulation, BUVSs have been ubiquitously detected in aquatic environments. Although the toxicological effects of BUVSs in aquatic organisms have been previously examined, the effects of BUVSs on the thyroid system have not been adequately addressed. In this study, we assessed putative thyroid disrupting effects of BUVSs (UV-234, UV-326, UV-329 and UV-P) in zebrafish embryos at 1, 10 and 100 μg/L for 96 h...
May 3, 2017: Chemosphere
https://www.readbyqxmd.com/read/28485381/regulation-of-cardiomyocyte-behavior-in-zebrafish-trabeculation-by-neuregulin-2a-signaling
#6
S Javad Rasouli, Didier Y R Stainier
Trabeculation is crucial for cardiac muscle growth in vertebrates. This process requires the Erbb2/4 ligand Neuregulin (Nrg), secreted by the endocardium, as well as blood flow/cardiac contractility. Here, we address two fundamental, yet unresolved, questions about cardiac trabeculation: why does it initially occur in the ventricle and not the atrium, and how is it modulated by blood flow/contractility. Using loss-of-function approaches, we first show that zebrafish Nrg2a is required for trabeculation, and using a protein-trap line, find that it is expressed in both cardiac chambers albeit with different spatiotemporal patterns...
May 9, 2017: Nature Communications
https://www.readbyqxmd.com/read/28475237/production-of-zebrafish-cardiospheres-and-cardiac-progenitor-cells-in-vitro-and-three-dimensional-culture-of-adult-zebrafish-cardiac-tissue-in-scaffolds
#7
Wendy R Zeng, Siew-Joo Beh, Robert J Bryson-Richardson, Pauline M Doran
The hearts of adult zebrafish (Danio rerio) are capable of complete regeneration in vivo even after major injury, making this species of particular interest for understanding the growth and differentiation processes required for cardiac tissue engineering. To date, little research has been carried out on in vitro culture of adult zebrafish cardiac cells. In this work, progenitor-rich cardiospheres suitable for cardiomyocyte differentiation and myocardial regeneration were produced from adult zebrafish hearts...
May 5, 2017: Biotechnology and Bioengineering
https://www.readbyqxmd.com/read/28472748/in%C3%A2-vivo-cardiovascular-toxicity-induced-by-acetochlor-in-zebrafish-larvae
#8
Hongcui Liu, Tianyi Chu, Lili Chen, Wenjun Gui, Guonian Zhu
The risk of acetochlor to human health is still unclear, prompting concern over its risk, especially to pesticide suicides population, occupational population (farmers, retailers and pharmaceutical workers), and special population (young children and infants, pregnant women, older people, and those with compromised immune systems). This study was to explore the toxic effect and the possible mechanism of toxic action of acetochlor using zebrafish larvae whose toxicity profiles have been confirmed to be strikingly similar with mammalian...
April 21, 2017: Chemosphere
https://www.readbyqxmd.com/read/28472305/recessive-taf1a-mutations-reveal-ribosomopathy-in-siblings-with-end-stage-pediatric-dilated-cardiomyopathy
#9
Pamela A Long, Jeanne L Theis, Yu-Huan Shih, Joseph J Maleszewski, Patrice C Abell Aleff, Jared M Evans, Xiaolei Xu, Timothy M Olson
Non-ischemic dilated cardiomyopathy (DCM) has been recognized as a heritable disorder for over 25 years, yet clinical genetic testing is non-diagnostic in > 50% of patients, underscoring the ongoing need for DCM gene discovery. Here, whole exome sequencing uncovered a novel molecular basis for idiopathic end-stage heart failure in two sisters who underwent cardiac transplantation at three years of age. Compound heterozygous recessive mutations in TAF1A, encoding an RNA polymerase I complex protein, were associated with marked fibrosis of explanted hearts and gene-specific nucleolar segregation defects in cardiomyocytes, indicative of impaired ribosomal RNA synthesis...
May 2, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28466843/the-careg-element-reveals-a-common-regulation-of-regeneration-in-the-zebrafish-myocardium-and-fin
#10
Catherine Pfefferli, Anna Jaźwińska
The existence of common mechanisms regulating organ regeneration is an intriguing concept. Here we report on a regulatory element that is transiently activated during heart and fin regeneration in zebrafish. This element contains a ctgfa upstream sequence, called careg, which is induced by TGFβ/Activin-β signalling in the peri-injury zone of the myocardium and the fin mesenchyme. In addition, this reporter demarcates a primordial cardiac layer and intraray osteoblasts. Using genetic fate mapping, we show the regenerative competence of careg-expressing cells...
May 3, 2017: Nature Communications
https://www.readbyqxmd.com/read/28465218/structure-toxicity-relationship-of-cefoperazone-and-its-impurities-to-developing-zebrafish-by-transcriptome-and-raman-analysis
#11
Ying Han, Jianqin Qian, Jingpu Zhang, Changqin Hu, Chen Wang
Cefoperazone (CFP) is a potent antibacterial agent that is widely used for the treatment of bacterial infections. Previously, we found that both the C-7 and C-3 substituents of CFP are toxic functional groups, and two groups could affect gene expression in zebrafish embryos, thereby resulting in variable abnormal phenotypes. (6R, 7S)-cefoperazone (7S-CFP) is the 7-epimer of CFP and 1-methyl-1H-tetrazole-5-thiol (MTT) is the C-3 substituent of CFP. Both molecules are impurities isolated from CFP that can induce adverse effects...
April 29, 2017: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/28464412/heart-specific-expression-of-laminopathic-mutations-in-transgenic-zebrafish
#12
Ajay D Verma, Veena K Parnaik
Lamins are key determinants of nuclear organization and function in the metazoan nucleus. Mutations in human lamin A cause a spectrum of genetic diseases that affect cardiac muscle and skeletal muscle as well as other tissues. A few laminopathies have been modeled using the mouse. As zebrafish is a well established model for the study of cardiac development and disease, we have investigated the effects of heart-specific lamin A mutations in transgenic zebrafish. We have developed transgenic lines of zebrafish expressing conserved lamin A mutations that cause cardiac dysfunction in humans...
May 2, 2017: Cell Biology International
https://www.readbyqxmd.com/read/28459520/zebrafish-model-for-assessing-induced-organ-toxicity-by-strychnos-nux-vomica
#13
Chongjun Zhao, Jinghuan Tian, Jinfeng Wang, Yaru Feng, Yuanyuan Ni, Jiaojiao Fan, Chunmei Wang, Dan Cao, Qinwen Zou, Zhiqiang Ma, Ruichao Lin
OBJECTIVE: To assess the acute organ toxicity of Strychnos nux-vomica with zebrafish model visually. METHODS: To assess acute toxicity, we initially determined the lethal concentration after Strychnos nux-vomica treatment for 24 h. Zebrafish was treated with five concentrations ≦ LC10 for 24 h, and the effects of Strychnos nux-vomica on morphology, function of heart, central nervous system, liver, kidney and organ-specific cell death were assessed. Next, we assessed the reversibility of toxic effect...
August 2016: Journal of Traditional Chinese Medicine, Chung i Tsa Chih Ying Wen Pan
https://www.readbyqxmd.com/read/28455512/systematic-identification-and-characterization-of-cardiac-long-intergenic-noncoding-rnas-in-zebrafish
#14
Lei Wang, Xiao Ma, Xiaolei Xu, Yuji Zhang
Long intergenic noncoding RNAs (lincRNAs) are increasingly recognized as potential key regulators of heart development and related diseases, but their identities and functions remain elusive. In this study, we sought to identify and characterize the cardiac lincRNA transcriptome in the experimentally accessible zebrafish model by integrating bioinformatics analysis with experimental validation. By conducting genome-wide RNA sequencing profiling of zebrafish embryonic hearts, adult hearts, and adult muscle, we generated a high-confidence set of 813 cardiac lincRNA transcripts, 423 of which are novel...
April 28, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28423017/auxotonic-to-isometric-contraction-transitioning-in-a-beating-heart-causes-myosin-step-size-to-down-shift
#15
Thomas P Burghardt, Xiaojing Sun, Yihua Wang, Katalin Ajtai
Myosin motors in cardiac ventriculum convert ATP free energy to the work of moving blood volume under pressure. The actin bound motor cyclically rotates its lever-arm/light-chain complex linking motor generated torque to the myosin filament backbone and translating actin against resisting force. Previous research showed that the unloaded in vitro motor is described with high precision by single molecule mechanical characteristics including unitary step-sizes of approximately 3, 5, and 8 nm and their relative step-frequencies of approximately 13, 50, and 37%...
2017: PloS One
https://www.readbyqxmd.com/read/28422649/visual-servoed-three-dimensional-rotation-control-in-zebrafish-larva-heart-microinjection-system
#16
Songlin Zhuang, Weiyang Lin, Jie Zhong, Gefei Zhang, Li Li, Jianbin Qiu, Huijun Gao
OBJECTIVE: Zebrafish larva heart microinjection is a widely used technique in cardiac disease study. Compared with intensively researched rotation control of spherical or nearly spherical targets with clear structures, such as cells and embryos, 3-D rotation control of zebrafish larva demands new techniques due to its non-transparent structures and irregular outlines. METHODS: In this paper, we present a vision-servo system to automate the rotation process of zebrafish larva body...
April 12, 2017: IEEE Transactions on Bio-medical Engineering
https://www.readbyqxmd.com/read/28419104/further-characterisation-of-differences-between-tl-and-ab-zebrafish-danio-rerio-gene-expression-physiology-and-behaviour-at-day-5-of-the-larval-stage
#17
Ruud van den Bos, Wouter Mes, Pietro Galligani, Anthony Heil, Jan Zethof, Gert Flik, Marnix Gorissen
Zebrafish (Danio rerio) have become popular as model organism in research. Many strains are readily available, which not only differ morphologically, but also genetically, physiologically and behaviourally. Here, we focus on the AB and Tupfel long-fin (TL) strain for which we have previously shown that adults differ in baseline hypothalamus-pituitary-interrenal (HPI)-axis activity (AB higher than TL) affecting inhibitory avoidance behaviour (absent in AB). To assess whether strain differences are already present in early life stages, we compared baseline HPI-axis related gene expression as well as cortisol levels, (neuro)development related as well as (innate) immune system related gene expression, and light-dark as well as startle behaviour in larvae 5 days post fertilisation...
2017: PloS One
https://www.readbyqxmd.com/read/28417904/zebrafish-as-an-alternative-vertebrate-model-for-investigating-developmental-toxicity-the-triadimefon-example
#18
Maria Zoupa, Kyriaki Machera
Triadimefon is a widely used triazole fungicide known to cause severe developmental defects in several model organisms and in humans. The present study evaluated in detail the developmental effects seen in zebrafish embryos exposed to triadimefon, confirmed and expanded upon previous phenotypic findings and compared them to those observed in other traditional animal models. In order to do this, we exposed embryos to 2 and 4 µg/mL triadimefon and evaluated growth until 120 h post-fertilization (hpf) through gross morphology examination...
April 12, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28412217/dalbergia-odorifera-extract-promotes-angiogenesis-through-upregulation-of-vegfrs-and-pi3k-mapk-signaling-pathways
#19
Zhu-Ming Fan, Da-Ying Wang, Jian-Mei Yang, Zhi-Xiu Lin, Ai-Lin Yang, Hua Fan, Min Cao, Su-Yun Yuan, Zong-Jun Liu, Xin Zhou, You-Hua Wang
ETHNOPHARMACOLOGICAL RELEVANCE: The heart wood of Dalbergia odorifera is a Chinese herbal medicine commonly used for the treatment of various ischemic diseases in Chinese medicine practice. AIM OF THE STUDY: In this study, therapeutic angiogenesis effects of the Dalbergia odorifera extract (DOE) were investigated on transgenic zebrafish in vivo and human umbilical vein endothelial cells (HUVECs) in vitro. MATERIALS AND METHODS: The pro-angiogenic effects of DOE on zebrafish were examined by subintestinal vessels (SIVs) sprouting assay and intersegmental vessels (ISVs) injury assay...
April 12, 2017: Journal of Ethnopharmacology
https://www.readbyqxmd.com/read/28408455/cell-therapy-trials-in-congenital-heart-disease
#20
REVIEW
Hidemasa Oh
Dramatic evolution in medical and catheter interventions and complex surgeries to treat children with congenital heart disease (CHD) has led to a growing number of patients with a multitude of long-term complications associated with morbidity and mortality. Heart failure in patients with hypoplastic left heart syndrome predicated by functional single ventricle lesions is associated with an increase in CHD prevalence and remains a significant challenge. Pathophysiological mechanisms contributing to the progression of CHD, including single ventricle lesions and dilated cardiomyopathy, and adult heart disease may inevitably differ...
April 14, 2017: Circulation Research
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