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JOURNAL ARTICLE
Alice Wood, Alexios Antonopoulos, Surawee Chuaiphichai, Theodosios Kyriakou, Rebeca Diaz, Abtehale Al Hussaini, Anna-Marie Marsh, Manjit Sian, Mitul Meisuria, Gerry McCann, Victoria S Rashbrook, Edward Drydale, Sally Draycott, Murray David Polkinghorne, Ioannis Akoumianakis, Charalambos Antoniades, Hugh Watkins, Keith M Channon, David Adlam, Gillian Douglas
INTRODUCTION: The non-coding locus at 6p24 located in intron 3 of PHACTR1 has consistently been implicated as a risk allele in myocardial infarction and multiple other vascular diseases. Recent murine studies have identified a role for Phactr1 in the development of atherosclerosis. However, the role of PHACTR1 in vascular tone and in vivo vascular remodelling has yet to be established. The aim of this study was to investigate the role of PHACTR1 in vascular function. METHODS AND RESULTS: Prospectively recruited coronary artery disease (CAD) patients undergoing bypass surgery and retrospectively recruited spontaneous coronary artery dissection (SCAD) patients and matched healthy volunteers were genotyped at the PHACTR1 rs9349379 locus...
June 2, 2022: Cardiovascular Research
#22
JOURNAL ARTICLE
Mahima S Reddy, Vlad Serbulea, Sohel Shamsuzzaman, Anita Salamon, Rupa Tripathi, Clint Miller, Giuseppe Mocci, Johan Björkegren, Gary Owens
The rupture of vulnerable or advanced atherosclerotic lesions contributes to myocardial infarctions and strokes, the leading causes of death globally. During all stages of atherosclerosis, vascular smooth muscle cells (VSMCs) are recruited as a major source of plaque cells within lesions, where they undergo phenotypic modulation and give rise to both plaque-stabilizing and destabilizing phenotypes. Because most atherosclerosis studies test the functional role of single transcription factors, genes, and proteins in VSMCs, many aspects of how VSMC plasticity can be clinically exploited to prevent the rupture of vulnerable atherosclerotic lesions remain unclear...
May 2022: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
#23
EDITORIAL
Rajat M Gupta
No abstract text is available yet for this article.
May 2022: Arteriosclerosis, Thrombosis, and Vascular Biology
#24
JOURNAL ARTICLE
Sébastien Rubin, Pauline Bougaran, Soizic Martin, Alice Abelanet, Valentin Delobel, Mathieu Pernot, Sylvie Jeanningros, Marie-Lise Bats, Christian Combe, Pascale Dufourcq, Stéphanie Debette, Thierry Couffinhal, Cécile Duplàa
BACKGROUND: Genome-wide association studies have revealed robust associations of common genetic polymorphisms in an intron of the PHACTR-1 (phosphatase and actin regulator 1) gene (chr6p24), with cervical artery dissection, spontaneous coronary artery dissection, and fibromuscular dysplasia. The aim was to assess its role in the pathogenesis of cervical artery dissection or fibromuscular dysplasia. METHODS: Using various tissue-specific Cre-driver mouse lines, Phactr1 was deleted either in endothelial cells using 2 tissue-specific Cre-driver (PDGFB [platelet-derived growth factor B]-CreERT2 mice and Tie2 [tyrosine kinase with immunoglobulin and EGF homology domains]-Cre) and smooth muscle cells (smooth muscle actin-CreERT2 ) with a third tissue-specific Cre-driver...
May 2022: Arteriosclerosis, Thrombosis, and Vascular Biology
#25
JOURNAL ARTICLE
Ildus I Ahmetov, Elliott C R Hall, Ekaterina A Semenova, Erinija Pranckevičienė, Valentina Ginevičienė
Sports genomics is the scientific discipline that focuses on the organization and function of the genome in elite athletes, and aims to develop molecular methods for talent identification, personalized exercise training, nutritional need and prevention of exercise-related diseases. It postulates that both genetic and environmental factors play a key role in athletic performance and related phenotypes. This update on the panel of genetic markers (DNA polymorphisms) associated with athlete status and soft-tissue injuries covers advances in research reported in recent years, including one whole genome sequencing (WGS) and four genome-wide association (GWAS) studies, as well as findings from collaborative projects and meta-analyses...
2022: Advances in Clinical Chemistry
#26
JOURNAL ARTICLE
Krzysztof Kosiński, Damian Malinowski, Krzysztof Safranow, Violetta Dziedziejko, Andrzej Pawlik
Coronary artery disease (CAD) is a syndrome resulting from myocardial ischaemia of heterogeneous pathomechanism. Environmental and genetic factors contribute to its development. Atherosclerotic plaques that significantly narrow the lumen of coronary arteries cause symptoms of myocardial ischaemia. Acute coronary incidents are most often associated with plaque rupture or erosion accompanied by local activation of the coagulation system with thrombus formation. Plaque formation and stability are influenced by endothelial function and vascular smooth muscle cell function...
January 13, 2022: Journal of Clinical Medicine
#27
JOURNAL ARTICLE
Naoki Kikuchi, Ethan Moreland, Hiroki Homma, Ekaterina A Semenova, Mika Saito, Andrey K Larin, Naoyuki Kobatake, Rinat A Yusupov, Takanobu Okamoto, Koichi Nakazato, Alun G Williams, Edward V Generozov, Ildus I Ahmetov
A recent case-control study identified 28 DNA polymorphisms associated with strength athlete status. However, studies of genotype-phenotype design are required to support those findings. The aim of the present study was to investigate both individually and in combination the association of 28 genetic markers with weightlifting performance in Russian athletes and to replicate the most significant findings in an independent cohort of Japanese athletes. Genomic DNA was collected from 53 elite Russian (31 men and 22 women, 23...
December 23, 2021: Genes
#28
JOURNAL ARTICLE
Ke Hao, Raili Ermel, Katyayani Sukhavasi, Haoxiang Cheng, Lijiang Ma, Ling Li, Letizia Amadori, Simon Koplev, Oscar Franzén, Valentina d'Escamard, Nirupama Chandel, Kathryn Wolhuter, Nicole S Bryce, Vamsidhar R M Venkata, Clint L Miller, Arno Ruusalepp, Heribert Schunkert, Johan L M Björkegren, Jason C Kovacic
BACKGROUND: Hundreds of candidate genes have been associated with coronary artery disease (CAD) through genome-wide association studies. However, a systematic way to understand the causal mechanism(s) of these genes, and a means to prioritize them for further study, has been lacking. This represents a major roadblock for developing novel disease- and gene-specific therapies for patients with CAD. Recently, powerful integrative genomics analyses pipelines have emerged to identify and prioritize candidate causal genes by integrating tissue/cell-specific gene expression data with genome-wide association study data sets...
February 2022: Circulation. Genomic and Precision Medicine
#29
JOURNAL ARTICLE
Zongjin Li, Xi Hu, Jinping Wan, Jiyu Yang, Zeyu Jia, Liqin Tian, Xiaoming Wu, Changxin Song, Chengying Yan
Plateau essential hypertension is a common chronic harmful disease of permanent residents in plateau areas. Studies have shown some single nucleotide polymorphisms (SNPs) associations with hypertension, but few have been verified in plateau area-lived people. In this paper, we examined some hypertension-related gene loci to analyze the relationship between risk SNPs and plateau essential hypertension in residents in Qinghai-Tibet plateau area. We screened hypertension-related SNPs from the literature, Clinvar database, GHR database, GTR database, and GWAS database, and then selected 101 susceptible SNPs for detection...
November 10, 2021: Experimental Biology and Medicine
#30
JOURNAL ARTICLE
Wei Lin, Zhipeng Chen, Xiaoyi Mo, Shengli Zhao, Zhenxing Wen, Wing Hoi Cheung, Dan Fu, Bailing Chen
The imbalance between osteogenic and adipogenic differentiation of Bone marrow-derived mesenchymal stem cells (BMSCs) is involved in the occurrence and development of osteoporosis (OP). Previous studies have indicated the potential of phosphatase and actin regulator 1 (Phactr1) in regulating osteogenic and adipogenic differentiation of BMSCs. The present study aims to investigate the function and mechanism of Phactr1 in regulating osteogenic and adipogenic differentiation of BMSCs. Herein, the expression of Phactr1 in bone and adipose tissue of OP rats was determined by immunohistochemical...
February 2022: Journal of Molecular Histology
#31
JOURNAL ARTICLE
Adrien Georges, Min-Lee Yang, Takiy-Eddine Berrandou, Mark K Bakker, Ozan Dikilitas, Soto Romuald Kiando, Lijiang Ma, Benjamin A Satterfield, Sebanti Sengupta, Mengyao Yu, Jean-François Deleuze, Delia Dupré, Kristina L Hunker, Sergiy Kyryachenko, Lu Liu, Ines Sayoud-Sadeg, Laurence Amar, Chad M Brummett, Dawn M Coleman, Valentina d'Escamard, Peter de Leeuw, Natalia Fendrikova-Mahlay, Daniella Kadian-Dodov, Jun Z Li, Aurélien Lorthioir, Marco Pappaccogli, Aleksander Prejbisz, Witold Smigielski, James C Stanley, Matthew Zawistowski, Xiang Zhou, Sebastian Zöllner, Philippe Amouyel, Marc L De Buyzere, Stéphanie Debette, Piotr Dobrowolski, Wojciech Drygas, Heather L Gornik, Jeffrey W Olin, Jerzy Piwonski, Ernst R Rietzschel, Ynte M Ruigrok, Miikka Vikkula, Ewa Warchol Celinska, Andrzej Januszewicz, Iftikhar J Kullo, Michel Azizi, Xavier Jeunemaitre, Alexandre Persu, Jason C Kovacic, Santhi K Ganesh, Nabila Bouatia-Naji
Fibromuscular dysplasia (FMD) is an arteriopathy associated with hypertension, stroke and myocardial infarction, affecting mostly women. We report results from the first genome-wide association meta-analysis of six studies including 1556 FMD cases and 7100 controls. We find an estimate of SNP-based heritability compatible with FMD having a polygenic basis, and report four robustly associated loci (PHACTR1, LRP1, ATP2B1, and LIMA1). Transcriptome-wide association analysis in arteries identifies one additional locus (SLC24A3)...
October 15, 2021: Nature Communications
#32
JOURNAL ARTICLE
Lu-Qiang Zhang, Jun-Jie Liu, Li Liu, Guo-Liang Fan, Yan-Nan Li, Qian-Zhong Li
Chronic myelogenous leukemia (CML) is a malignant clonal disease of hematopoietic stem cells. Researches have exhibited that the progression of CML is related to histone modifications. Here, we perform the systematic analyses of H3K36me3 patterns and gene expression level changes. We observe that the genes with higher gene-body H3K36me3 levels in normal cells show fewer expression changes during leukemogenesis, while the genes with lower gene-body H3K36me3 levels in normal cells yield obvious expression changes during leukemogenesis (ρ=-0...
August 2, 2021: Gene
#33
JOURNAL ARTICLE
Yingchang Lu, Latchezar Dimitrov, Shyh-Huei Chen, Lawrence F Bielak, Joshua C Bis, Mary F Feitosa, Lingyi Lu, Maryam Kavousi, Laura M Raffield, Albert V Smith, Lihua Wang, Stefan Weiss, Jie Yao, Jiaxi Zhu, Elias F Gudmundsson, Valborg Gudmundsdottir, Daniel Bos, Mohsen Ghanbari, M Arfan Ikram, Shih-Jen Hwang, Kent D Taylor, Matthew J Budoff, Gauti K Gíslason, Christopher J O'Donnell, Ping An, Nora Franceschini, Barry I Freedman, Yi-Ping Fu, Xiuqing Guo, Gerardo Heiss, Sharon L R Kardia, James G Wilson, Carl D Langefeld, Ulf Schminke, André G Uitterlinden, Leslie A Lange, Patricia A Peyser, Vilmundur G Gudnason, Bruce M Psaty, Jerome I Rotter, Donald W Bowden, Maggie C Y Ng
BACKGROUND: Coronary artery calcification (CAC) and carotid artery intima-media thickness (cIMT) are measures of subclinical atherosclerosis in asymptomatic individuals and strong risk factors for cardiovascular disease. Type 2 diabetes (T2D) is an independent cardiovascular disease risk factor that accelerates atherosclerosis. METHODS: We performed meta-analyses of genome-wide association studies in up to 2500 T2D individuals of European ancestry (EA) and 1590 T2D individuals of African ancestry with or without exclusion of prevalent cardiovascular disease, for CAC measured by cardiac computed tomography, and 3608 individuals of EA and 838 individuals of African ancestry with T2D for cIMT measured by ultrasonography within the CHARGE (Cohorts for Heart and Aging Research in Genomic Epidemiology) Consortium...
August 2021: Circulation. Genomic and Precision Medicine
#34
REVIEW
Kaya J Olczak, Victoria Taylor-Bateman, Hannah L Nicholls, Matthew Traylor, Claudia P Cabrera, Patricia B Munroe
Essential hypertension is a complex trait where the underlying aetiology is not completely understood. Left untreated it increases the risk of severe health complications including cardiovascular and renal disease. It is almost 15 years since the first genome-wide association study for hypertension, and after a slow start there are now over 1000 blood pressure (BP) loci explaining ∼6% of the single nucleotide polymorphism-based heritability. Success in discovery of hypertension genes has provided new pathological insights and drug discovery opportunities and translated to the development of BP genetic risk scores (GRSs), facilitating population disease risk stratification...
December 2021: Journal of Internal Medicine
#35
JOURNAL ARTICLE
Abolfazl Yari, Nasrollah Saleh-Gohari, Moghaddameh Mirzaee, Fatemeh Hashemi, Kolsoum Saeidi
Recent genome-wide association studies reported the association of polymorphic alleles of PHACTR1 (rs9349379 (G)), CDDKN2B-AS1 (rs2891168 (G)), COL4A2 (rs11838776 (A)) and SOD2 (rs4880 (T)) with increased risk of coronary artery disease (CAD). The aim of our study was to assess the association of genetic variants with risk of CAD and its severity and in Southeast Iranian population. This study was examined in 250 CAD-suspected patients (mean age 53.49 ± 6.9 years) and 250 healthy individuals (mean age 52...
February 2022: Biochemical Genetics
#36
JOURNAL ARTICLE
Laetitia Herman, Bérangère Legois, Anne-Laure Todeschini, Reiner A Veitia
FOXL2 and ESR2 are key transcriptional regulators in ovarian granulosa cells. To explore their transcriptional roles and their interplay, we have depleted Foxl2 and Esr2 in mouse primary granulosa cells to assess their ability to bind their targets and/or to modulate gene expression and cellular functions. We show that FOXL2 is involved in a large number of regulatory actions essential for the maintenance of granulosa cell fate. A parallel ChIP-seq analysis showed that FOXL2 mainly binds to sites located in intergenic regions quite far from its targets...
April 2021: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
#37
JOURNAL ARTICLE
Clemens Messerschmidt, Marco Foddis, Sonja Blumenau, Susanne Müller, Kajetan Bentele, Manuel Holtgrewe, Celia Kun-Rodrigues, Isabel Alonso, Maria do Carmo Macario, Ana Sofia Morgadinho, Ana Graça Velon, Gustavo Santo, Isabel Santana, Saana Mönkäre, Liina Kuuluvainen, Johanna Schleutker, Minna Pöyhönen, Liisa Myllykangas, Assunta Senatore, Daniel Berchtold, Katarzyna Winek, Andreas Meisel, Aleksandra Pavlovic, Vladimir Kostic, Valerija Dobricic, Ebba Lohmann, Hasmet Hanagasi, Gamze Guven, Basar Bilgic, Jose Bras, Rita Guerreiro, Dieter Beule, Ulrich Dirnagl, Celeste Sassi
Recently, several genome-wide association studies identified PHACTR1 as key locus for five diverse vascular disorders: coronary artery disease, migraine, fibromuscular dysplasia, cervical artery dissection and hypertension. Although these represent significant risk factors or comorbidities for ischemic stroke, PHACTR1 role in brain small vessel ischemic disease and ischemic stroke most important survival mechanism, such as the recruitment of brain collateral arteries like posterior communicating arteries (PcomAs), remains unknown...
March 16, 2021: Scientific Reports
#38
JOURNAL ARTICLE
Pavlos G Koitsopoulos, Simon W Rabkin
OBJECTIVE: There is a need to identify genetic factors that may produce coronary artery atherosclerotic disease (CAD) that are not involved in the usual risk factors leading to CAD. Previous studies have often equated coronary artery calcification (CAC) with CAD with coronary stenosis or its sequelae. The objective of this study was to examine the relationship between phosphatase and actin regulator 1 (PHACTR1) single nucleotide polymorphisms (SNPs) and the type of coronary artery disease CAD versus CAC...
August 1, 2021: Coronary Artery Disease
#39
JOURNAL ARTICLE
Deficiency of macrophage PHACTR1 impairs efferocytosis and promotes atherosclerotic plaque necrosis.
Canan Kasikara, Maaike Schilperoort, Brennan Gerlach, Chenyi Xue, Xiaobo Wang, Ze Zheng, George Kuriakose, Bernhard Dorweiler, Hanrui Zhang, Gabrielle Fredman, Danish Saleheen, Muredach P Reilly, Ira Tabas
Efferocytosis, the process through which apoptotic cells (ACs) are cleared through actin-mediated engulfment by macrophages, prevents secondary necrosis, suppresses inflammation, and promotes resolution. Impaired efferocytosis drives the formation of clinically dangerous necrotic atherosclerotic plaques, the underlying etiology of coronary artery disease (CAD). An intron of the gene encoding PHACTR1 contains rs9349379 (A>G), a common variant associated with CAD. As PHACTR1 is an actin-binding protein, we reasoned that if the rs9349379 risk allele G causes lower PHACTR1 expression in macrophages, it might link the risk allele to CAD via impaired efferocytosis...
April 15, 2021: Journal of Clinical Investigation
#40
JOURNAL ARTICLE
Andrey V Marakhonov, Magdalena Přechová, Fedor A Konovalov, Alexandra Yu Filatova, Maria A Zamkova, Ilya V Kanivets, Vladimir G Solonichenko, Natalia A Semenova, Rena A Zinchenko, Richard Treisman, Mikhail Yu Skoblov
A young boy with multifocal epilepsy with infantile spasms and hypsarrhythmia with minimal organic lesions of brain structures underwent DNA diagnosis using whole-exome sequencing. A heterozygous amino-acid substitution p.L519R in a PHACTR1 gene was identified. PHACTR1 belongs to a protein family of G-actin binding protein phosphatase 1 (PP1) cofactors and was not previously associated with a human disease. The missense single nucleotide variant in the proband was shown to occur de novo in the paternal allele...
January 19, 2021: Clinical Genetics
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