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https://www.readbyqxmd.com/read/29332214/targeted-next-generation-sequencing-in-patients-with-non-syndromic-congenital-heart-disease
#1
Silvia Pulignani, Cecilia Vecoli, Andrea Borghini, Ilenia Foffa, Lamia Ait-Alì, Maria Grazia Andreassi
Congenital heart disease (CHD) is a genetically heterogeneous disease. Targeted next-generation sequencing (NGS) offers a unique opportunity to sequence multiple genes at lower cost and effort compared to Sanger sequencing. We tested a targeted NGS of a specific gene panel in a relatively large population of non-syndromic CHD patients. The patient cohort comprised 68 CHD patients (45 males; 8.3 ± 1.7 years). Amplicon libraries for 16 CHD-strictly related genes were generated using a TruSeq® Custom Amplicon kit (Illumina, CA) and sequenced using the Illumina MiSeq platform...
January 13, 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29331483/gata4-is-a-transcriptional-regulator-of-r-spondin1-in-japanese-flounder-paralichthys-olivaceus
#2
Xiumei Liu, Zan Li, Bo Wang, He Zhu, Yuezhong Liu, Jie Qi, Quanqi Zhang
GATA4 is a well-known transcription factor of the GATA family implicated in regulation of sex determination and gonadal development in mammals. In this study, we cloned the full-length cDNA of Paralichthys olivaceus gata4 (Po-gata4). Phylogenetic, gene structure, and synteny analysis showed that Po-GATA4 is homologous to GATA4 of teleost and tetrapod. Po-gata4 transcripts were detected in Sertoli cells, spermatogonia, oogonia and oocytes, with higher transcript levels overall in the testis than the ovary. The promoter region of P...
January 10, 2018: Gene
https://www.readbyqxmd.com/read/29325903/gata4-loss-of-function-mutation-and-the-congenitally-bicuspid-aortic-valve
#3
Ruo-Gu Li, Ying-Jia Xu, Juan Wang, Xing-Yuan Liu, Fang Yuan, Ri-Tai Huang, Song Xue, Li Li, Hua Liu, Yan-Jie Li, Xin-Kai Qu, Hong-Yu Shi, Min Zhang, Xing-Biao Qiu, Yi-Qing Yang
Aggregating evidence suggests that genetic determinants play a pivotal role in the pathogenesis of the congenitally bicuspid aortic valve (BAV). BAV is of pronounced genetic heterogeneity, and the genetic components underlying BAV in an overwhelming majority of patients remain elusive. In the current study, the whole coding exons and adjacent introns, as well as 5' and 3' untranslated regions of the GATA4 gene, which codes for a zinc-finger transcription factor crucial for the normal development of the aortic valve, were screened by direct sequencing in 150 index patients with congenital BAV...
November 23, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/29298995/nuclear-receptor-gene-polymorphisms-and-warfarin-dose-requirements-in-the-quebec-warfarin-cohort
#4
Payman Shahabi, Félix Lamothe, Stéphanie Dumas, Étienne Rouleau-Mailloux, Yassamin Feroz Zada, Sylvie Provost, Geraldine Asselin, Ian Mongrain, Diane Valois, Marie-Josée Gaulin Marion, Louis-Philippe Lemieux Perreault, Sylvie Perreault, Marie-Pierre Dubé
Warfarin is primarily metabolized by cytochrome 2C9, encoded by gene CYP2C9. Here, we investigated whether variants in nuclear receptor genes which regulate the expression of CYP2C9 are associated with warfarin response. We used data from 906 warfarin users from the Quebec Warfarin Cohort (QWC) and tested the association of warfarin dose requirement at 3 months following the initiation of therapy in nine nuclear receptor genes: NR1I3, NR1I2, NR3C1, ESR1, GATA4, RXRA, VDR, CEBPA, and HNF4A. Three correlated SNPs in the VDR gene (rs4760658, rs11168292, and rs11168293) were associated with dose requirements of warfarin (P = 2...
January 3, 2018: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/29285060/inhibitory-effect-of-oxidative-damage-on-cardiomyocyte-differentiation-from-wharton-s-jelly-derived-mesenchymal-stem-cells
#5
Natakarn Nimsanor, Jitrada Phetfong, Chotiros Plabplueng, Kulachart Jangpatarapongsa, Virapong Prachayasittikul, Aungkura Supokawej
Ischemic heart diseases are a serious health problem worldwide. The transplantation of mesenchymal stem cells (MSCs) has been investigated in numerous clinical trials on various other diseases due to the self-renewal capacity of these cells and their potential to differentiate into a variety of cell types. The presence of excess reactive oxygen species in injured myocardium causes cardiac dysfunction and leads to inefficient repair of the heart. The poor outcomes of stem cell transplantation have been suggested to result from residual oxidative damage affecting the transplanted cells...
December 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29284711/corrigendum-genetic-interrogation-of-replicative-senescence-uncovers-a-dual-role-for-usp28-in-coordinating-the-p53-and-gata4-branches-of-the-senescence-program
#6
Anna E Mazzucco, Agata Smogorzewska, Chanhee Kang, Ji Luo, Michael R Schlabach, Qikai Xu, Rupesh Patel, Stephen J Elledge
No abstract text is available yet for this article.
November 15, 2017: Genes & Development
https://www.readbyqxmd.com/read/29276141/direct-in%C3%A2-vivo-reprogramming-with-sendai-virus-vectors-improves-cardiac-function-after-myocardial-infarction
#7
Kazutaka Miyamoto, Mizuha Akiyama, Fumiya Tamura, Mari Isomi, Hiroyuki Yamakawa, Taketaro Sadahiro, Naoto Muraoka, Hidenori Kojima, Sho Haginiwa, Shota Kurotsu, Hidenori Tani, Li Wang, Li Qian, Makoto Inoue, Yoshinori Ide, Junko Kurokawa, Tsunehisa Yamamoto, Tomohisa Seki, Ryo Aeba, Hiroyuki Yamagishi, Keiichi Fukuda, Masaki Ieda
Direct cardiac reprogramming holds great promise for regenerative medicine. We previously generated directly reprogrammed induced cardiomyocyte-like cells (iCMs) by overexpression of Gata4, Mef2c, and Tbx5 (GMT) using retrovirus vectors. However, integrating vectors pose risks associated with insertional mutagenesis and disruption of gene expression and are inefficient. Here, we show that Sendai virus (SeV) vectors expressing cardiac reprogramming factors efficiently and rapidly reprogram both mouse and human fibroblasts into integration-free iCMs via robust transgene expression...
January 4, 2018: Cell Stem Cell
https://www.readbyqxmd.com/read/29229250/genome-wide-transcriptomics-analysis-identifies-sox7-and-sox18-as-specifically-regulated-by-gata4-in-cardiomyogenesis
#8
Boni A Afouda, Adam T Lynch, Eduardo de Paiva Alves, Stefan Hoppler
The transcription factors GATA4, GATA5 and GATA6 are important regulators of heart muscle differentiation (cardiomyogenesis), which function in a partially redundant manner. We identified genes specifically regulated by individual cardiogenic GATA factors in a genome-wide transcriptomics analysis. The genes regulated by gata4 are particularly interesting because GATA4 is able to induce differentiation of beating cardiomyocytes in Xenopus and in mammalian systems. Among the specifically gata4-regulated transcripts we identified two SoxF family members, sox7 and sox18...
December 8, 2017: Developmental Biology
https://www.readbyqxmd.com/read/29222010/a-novel-nr2f2-loss-of-function-mutation-predisposes-to-congenital-heart-defect
#9
Xiao-Hui Qiao, Qian Wang, Juan Wang, Xing-Yuan Liu, Ying-Jia Xu, Ri-Tai Huang, Song Xue, Yan-Jie Li, Min Zhang, Xin-Kai Qu, Ruo-Gu Li, Xing-Biao Qiu, Yi-Qing Yang
Congenital heart defect (CHD) is the most common type of birth defect in humans and a leading cause of infant morbidity and mortality. Previous studies have demonstrated that genetic defects play a pivotal role in the pathogenesis of CHD. However, the genetic basis of CHD remains poorly understood due to substantial genetic heterogeneity. In this study, the coding exons and splicing boundaries of the NR2F2 gene, which encodes a pleiotropic transcription factor required for normal cardiovascular development, were sequenced in 168 unrelated patients with CHD, and a novel mutation (c...
December 6, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29208259/the-role-of-a-novel-long-noncoding-rna-tuc40-in-cardiomyocyte-induction-and-maturation-in-p19-cells
#10
Huijuan Li, Li Jiang, Zhangbin Yu, Shuping Han, Xuehua Liu, Mengmeng Li, Chun Zhu, Lixing Qiao, Li Huang
BACKGROUND: In previous studies, TUC40-, a new long noncoding RNA, was found to be overexpressed in human ventricular septal defect (VSD) embryonic heart samples. In this article, we carried out experiments on the P19 cell line to elucidate the effects of TUC40- overexpression on cardiomyocyte development relevant to VSD pathogenesis. METHODS: We established the overexpression cell model by plasmid transfection, and explored the expression profile of Pbx1, the sense gene of TUC40-, and the marker genes of cardiomyocyte linage commitment (Nkx2...
December 2017: American Journal of the Medical Sciences
https://www.readbyqxmd.com/read/29174091/pancreatic-hemi-agenesis-in-men1-a-clinical-report
#11
Wouter J Vinck, Frank Van de Mierop, François Van Mieghem, Maarten Vinck, Herman Becq, Geneviève Michils
We first describe a patient with multiple endocrine neoplasia type 1 (MEN1) and dorsal pancreatic hemi-agenesis. Previously, pancreas divisum has been reported in MEN1. Recent data in mice have elucidated the molecular mechanisms of pancreatic endoderm specification. Disinhibition of hedgehog signaling appears to be important in how Gata4 and Gata6 variants cause pancreatic agenesis. Disinhibition of hedgehog signaling has also been observed in Men1 knockout pancreatic islets. Although we cannot exclude a spurious association between dorsal pancreatic hemi-agenesis and MEN1 in our patient, we argue that developmental abnormalities of the pancreas may have to be considered as possibly related to the MEN1 phenotype...
November 22, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29156374/genetic-profiling-and-surface-proteome-analysis-of-human-atrial-stromal-cells-and-rat-ventricular-epicardium-derived-cells-reveals-novel-insights-into-their-cardiogenic-potential
#12
Sebastian Temme, Daniela Friebe, Timo Schmidt, Gereon Poschmann, Julia Hesse, Bodo Steckel, Kai Stühler, Meik Kunz, Thomas Dandekar, Zhaoping Ding, Payam Akhyari, Artur Lichtenberg, Jürgen Schrader
Epicardium-derived cells (EPDC) and atrial stromal cells (ASC) display cardio-regenerative potential, but the molecular details are still unexplored. Signals which induce activation, migration and differentiation of these cells are largely unknown. Here we have isolated rat ventricular EPDC and rat/human ASC and performed genetic and proteomic profiling. EPDC and ASC expressed epicardial/mesenchymal markers (WT-1, Tbx18, CD73, CD90, CD44, CD105), cardiac markers (Gata4, Tbx5, troponin T) and also contained phosphocreatine...
November 7, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29155983/meox1-accelerates-myocardial-hypertrophic-decompensation-through-gata4
#13
Dan Lu, Jizheng Wang, Jing Li, Feifei Guan, Xu Zhang, Wei Dong, Ning Liu, Shan Gao, Lianfeng Zhang
Aims: Pathological hypertrophy is the result of gene network regulation, which ultimately leads to adverse cardiac remodelling and heart failure (HF), and is accompanied by the reactivation of a 'foetal gene programme'. The Mesenchyme homeobox 1 (Meox1) gene is one of the foetal programme genes. Meox1 may play a role in embryonic development, but its regulation of pathological hypertrophy is not known. Therefore, this study investigated the effect of Meox1 on pathological hypertrophy, including familial and pressure overload-induced hypertrophy, and its potential mechanism of action...
November 16, 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/29142252/gallic-acid-reduces-blood-pressure-and-attenuates-oxidative-stress-and-cardiac-hypertrophy-in-spontaneously-hypertensive-rats
#14
Li Jin, Zhe Hao Piao, Simei Sun, Bin Liu, Gwi Ran Kim, Young Mi Seok, Ming Quan Lin, Yuhee Ryu, Sin Young Choi, Hae Jin Kee, Myung Ho Jeong
Gallic acid (GA) has been reported to have beneficial effects on cancer, vascular calcification, and diabetes-induced myocardial dysfunction. We hypothesized that GA controls hypertension via oxidative stress response regulation in an animal model for essential hypertension. Spontaneously hypertensive rats (SHRs) were administered GA for 16 weeks. GA treatment lowered elevated systolic blood pressure in SHRs through the inhibition of vascular contractility and components of the renin-angiotensin II system. In addition, GA administration reduced aortic wall thickness and body weight in SHRs...
November 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29138836/gata4-protects-against-hyperglycemia%C3%A2-induced-endothelial-dysfunction-by-regulating-nox4-transcription
#15
Hongfei Xu, Zhen Wang, Zewei Sun, Yiming Ni, Liangrong Zheng
Endothelial dysfunction is one of the most common complications associated with diabetes and may lead to atherosclerosis. Conflicting reports indicate that NADPH oxidase 4 (NOX4) induces hydrogen peroxide production and cytotoxicity, but also has a protective effect on endothelial dysfunction. The present study aimed to identify the transcription factor responsible for NOX4 expression using a transcription factor activation profiling plate array and chromatin immunoprecipitation. Data from these analyses indicated that GATA‑binding protein 4 (GATA4) was able to mediate NOX4 transcription and is downregulated in human umbilical vein endothelial cells (HUVECs) that were exposed to hyperglycemic conditions as well as in the endothelial cells of a mouse diabetes model...
November 14, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29137434/involment-of-ras-erk1-2-signaling-and-mef2c-in-mir-155-3p-inhibition-triggered-cardiomyocyte-differentiation-of-embryonic-stem-cell
#16
Xiang Ling, Dongbo Yao, Lumei Kang, Jing Zhou, Ying Zhou, Hui Dong, Keping Zhang, Lei Zhang, Hongping Chen
MicroRNAs (miRNAs) are short, noncoding RNAs that regulate post-transcriptional gene expression by targeting messenger RNAs (mRNAs) for cleavage or translational repression. Growing evidence indicates that miR-155 expression changes with the development of heart and plays an important role in heart physiopathology. However, the role of miR-155 in cardiac cells differentiation is unclear. Using the well-established embryonic stem cell (ESC), we demonstrated that miR-155-3p expression was down-regulated during cardiogenesis from mouse ESC...
October 13, 2017: Oncotarget
https://www.readbyqxmd.com/read/29133875/heart-function-and-thoracic-aorta-gene-expression-profiling-studies-of-ginseng-combined-with-different-herbal-medicines-in-enos-knockout-mice
#17
Yuchen Qian, Pan Li, Bin Lv, Xiaoqing Jiang, Ting Wang, Han Zhang, Xiaoying Wang, Xiumei Gao
Ginseng, a popular herbal remedy, is often used in combination with other drugs to achieve the maximum therapeutic response. Shenfu (SFI) and Shenmai injection (SMI) have been widely used to treat cardiovascular disease in China. Our study explored the cardiovascular protection of SFI and SMI in eNOS knockout mice to investigate the differences and similarities of the two ginseng-combinations. Transthoracic echocardiography was performed to evaluate the left ventricular structure and function at baseline and 3, 7, and 14 days after drug administration...
November 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29111375/a-novel-protocol-to-provide-a-suitable-cardiac-model-from-induced-pluripotent-stem-cells
#18
Mahsa Rasekhi, Masoud Soleimani, Behnaz Bakhshandeh, Majid Sadeghizadeh
Cumulative evidence has proven the safety, feasibility and efficacy of stem cell therapy for cardiomyocyte replacement in heart failure treatment. In contrast to embryonic stem cells, induced pluripotent stem cells (iPS cells) provide a route to the production of patient-specific stem cell lines with no ethical concerns. Recent studies have revealed that myogenic transcription factors activated the expression of conserved microRNAs (miRNAs), such as mir-1, that 'fine-tuned' the output of the transcriptional networks...
October 27, 2017: Biologicals: Journal of the International Association of Biological Standardization
https://www.readbyqxmd.com/read/29111206/functional-mutant-gata4-identification-and-potential-application-in-preimplantation-diagnosis-of-congenital-heart-diseases
#19
REVIEW
You Yu, Wei Lei, Junjie Yang, Yan-Chang Wei, Zhen-Ling Zhao, Zhen-Ao Zhao, Shijun Hu
Congenital heart diseases (CHDs) affect nearly 1% of all neonates and show an increasing tendency. The complex inheritance patterns and multifactorial etiologies make these defects difficult to be identified before complete manifestation. Genetic screening has identified hundreds of specific mutant sites for CHDs based on cardiac transcriptional factors. GATA4 is a master regulator required for ventral morphogenesis and heart tube formation. Its mutation is most widely studied in CHDs. In the past decades, over 100 GATA4 mutant sites have been reported, but only a few functional sites have been identified...
October 27, 2017: Gene
https://www.readbyqxmd.com/read/29109354/early-development-of-pleuroperitoneal-fold-of-the-diaphragm-in-the-rat-fetus
#20
Naoki Iwashita, Motoharu Sakaue, Mitsuyuki Shirai, Masako Yamamoto
The embryonic diaphragm comprises four major structural components derived from the transverse septum, the dorsal foregut mesentery, the pleuroperitoneal folds (PPFs), and the body wall. In this study, the appearance of PPFs and related factors were investigated using light microscopy of horizontal sections of rat fetuses from embryonic day 12 to 13. In rat fetuses, the sign of PPF projection was noted in the sidewall of the pericardioperitoneal canal at embryonic day 12, and was confirmed as folds at embryonic day 12...
November 6, 2017: Journal of Veterinary Medical Science
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