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Phactr1

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https://www.readbyqxmd.com/read/30517918/cervical-artery-dissection-in-patients-of-african-ancestry
#1
Ilana E Green, Shareena A Rahman, Debra L Owens, Michèle M Sale, Lillian J Currie, Keith L Keene, Bradford B Worrall, Andrew M Southerland
BACKGROUND AND PURPOSE: The majority of published data in cervical artery dissection (CeAD), a common cause of stroke in young adults, derive from populations of European ancestry (EA), including a recent genome-wide study identifying an association with the rs9349379 polymorphism of the PHACTR1 gene. Little is known about CeAD in individuals of African ancestry (AA) despite robust epidemiological data showing increased risk of stroke at younger ages. We hypothesize that AA patients with CeAD have different epidemiology and clinical profiles compared to those of EA, and a different genetic architecture related to rs9349379 of the PHACTR1 gene...
December 5, 2018: Cerebrovascular Diseases
https://www.readbyqxmd.com/read/30293016/phactr1-regulates-oxidative-stress-and-inflammation-to-coronary-artery-endothelial-cells-via-interaction-with-nf-%C3%AE%C2%BAb-p65
#2
Zhihui Zhang, Fenglin Jiang, Lixiong Zeng, Xiaoyan Wang, Shan Tu
BACKGROUND AND AIMS: Genome-wide association studies have showed that genetic variants in phosphatase and actin regulator 1 (PHACTR1) are associated with coronary artery disease and myocardial infarction. However, the underlying mechanism of PHACTR1 in atherosclerosis remains unknown. METHODS: Immunoblots were performed to evaluate the expression of PHACTR1 and phosphorylation of NF-κB signaling. Reactive oxygen species (ROS) labeled with DCFH-DA were assessed by flow cytometry...
August 30, 2018: Atherosclerosis
https://www.readbyqxmd.com/read/30285053/fibromuscular-dysplasia-and-its-neurologic-manifestations-a-systematic-review
#3
Emmanuel Touzé, Andrew M Southerland, Marion Boulanger, Paul-Emile Labeyrie, Michel Azizi, Nabila Bouatia-Naji, Stéphanie Debette, Heather L Gornik, Shazam M Hussain, Xavier Jeunemaitre, Julien Joux, Adam Kirton, Claire Le Hello, Jennifer J Majersik, J Mocco, Alexandre Persu, Aditya Sharma, Bradford B Worrall, Jeffrey W Olin, Pierre-François Plouin
Importance: Data on neurologic manifestations of fibromuscular dysplasia (FMD) are rare, and current knowledge remains limited. Objectives: To present a comprehensive review of the epidemiologic characteristics, management, and prognosis of the neurologic manifestations associated with cerebrovascular FMD (ie, involving cervical or intracranial arteries) and to guide future research priorities. Evidence Review: References were identified through searches of PubMed from inception to December 2017 using both the medical subject headings and text words...
October 1, 2018: JAMA Neurology
https://www.readbyqxmd.com/read/30256902/de-novo-phactr1-mutations-in-west-syndrome-and-their-pathophysiological-effects
#4
Nanako Hamada, Shunsuke Ogaya, Mitsuko Nakashima, Takuma Nishijo, Yuji Sugawara, Ikuko Iwamoto, Hidenori Ito, Yuki Maki, Kentaro Shirai, Shimpei Baba, Koichi Maruyama, Hirotomo Saitsu, Mitsuhiro Kato, Naomichi Matsumoto, Toshihiko Momiyama, Koh-Ichi Nagata
Trio-based whole exome sequencing identified two de novo heterozygous missense mutations [c.1449T > C/p.(Leu500Pro) and c.1436A > T/p.(Asn479Ile)] in PHACTR1, encoding a molecule critical for the regulation of protein phosphatase 1 (PP1) and the actin cytoskeleton, in unrelated Japanese individuals with West syndrome (infantile spasms with intellectual disability). We then examined the role of Phactr1 in the development of mouse cerebral cortex and the pathophysiological significance of these two mutations and others [c...
November 1, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29894805/expression-and-purification-of-human-phosphatase-and-actin-regulator-1-phactr1-in-plant-based-systems
#5
B B Gengenbach, C R Müschen, J F Buyel
Cardiovascular diseases are a prevalent cause of morbidity and mortality especially in industrialized countries. The human phosphatase and actin regulator 1 (PHACTR1) may be involved in such diseases, but its precise regulatory function remains unclear due to the large number of potential interaction partners. The same phenomenon makes this protein difficult to express in mammalian cells, but it is also an intrinsically disordered protein that likely aggregates when expressed in bacteria due to the absence of chaperones...
November 2018: Protein Expression and Purification
https://www.readbyqxmd.com/read/29883369/genomics-of-fibromuscular-dysplasia
#6
REVIEW
Silvia Di Monaco, Adrien Georges, Jean-Philippe Lengelé, Miikka Vikkula, Alexandre Persu
Fibromuscular Dysplasia (FMD) is &ldquo;an idiopathic, segmental, non-atherosclerotic and non-inflammatory disease of the musculature of arterial walls, leading to stenosis of small and medium-sized arteries&rdquo; (Persu, et al; 2014). FMD can lead to hypertension, arterial dissections, subarachnoid haemorrhage, stroke or mesenteric ischemia. The pathophysiology of the disease remains elusive. While familial cases are rare (<5%) in contemporary FMD registries, there is evidence in favour of the existence of multiple genetic factors involved in this vascular disease...
May 21, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29784573/phactr1-genotype-predicts-coronary-artery-disease-in-patients-with-familial-hypercholesterolemia
#7
Martine Paquette, Robert Dufour, Alexis Baass
BACKGROUND: Familial hypercholesterolemia (FH) is the most frequent autosomal codominant disease worldwide and is characterized by elevated low-density lipoprotein cholesterol and premature coronary artery disease (CAD). Polymorphisms in phosphatase and actin regulator 1 (PHACTR1) have been shown to be associated with cardiovascular risk in large genome-wide association studies studies. OBJECTIVE: The aim of the present study is to evaluate the association between the rs12526453 polymorphism in the PHACTR1 gene and the prevalence of CAD in FH patients...
July 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29534984/fibromuscular-dysplasia-contemporary-concepts-and-future-directions
#8
REVIEW
Nupoor Narula, Daniella Kadian-Dodov, Jeffrey W Olin
Fibromuscular dyplasia (FMD) is an under-recognized non-atherosclerotic, non-inflammatory arteriopathy that occurs most commonly in middle-aged women, but may affect individuals of all age groups. FMD may result in stenosis, aneurysm, dissection, occlusion, or arterial tortuosity. Recently published data demonstrated a genetic association of FMD with a variant in the phosphatase and actin regulator 1 gene (PHACTR1), substantiating that the pathogenesis of this condition has genetic contribution. The renal and extracranial carotid and vertebral arteries are most often involved, although any arterial bed may be affected...
March 2018: Progress in Cardiovascular Diseases
https://www.readbyqxmd.com/read/29448245/does-endothelin-1-raise-or-lower-blood-pressure-in-humans
#9
Ernesto L Schiffrin
Subject of Review: Gupta et al. [Cell 2017; 170: 522-533] have shown that a genetic variant associated with the 5 vascular diseases is a distal regulator of endothelin (ET)-1 gene (EDN1) expression. A common single nucleotide polymorphism (SNP) in the third intron of the PHACTR1 gene, rs9349379, is the potential variant responsible for increased risk of coronary artery disease, and lower risk of migraine, carotid dissection, fibromuscular dysplasia, and hypertension. Since ET-1 acts through ET type B receptors (ETBR) on endothelial cells to stimulate the production of nitric oxide and prostacyclin and induce vasodilation, this may contribute to these findings...
2018: Nephron
https://www.readbyqxmd.com/read/28957430/shared-genetic-risk-between-migraine-and-coronary-artery-disease-a-genome-wide-analysis-of-common-variants
#10
Bendik S Winsvold, Francesco Bettella, Aree Witoelar, Verneri Anttila, Padhraig Gormley, Tobias Kurth, Gisela M Terwindt, Tobias M Freilinger, Oleksander Frei, Alexey Shadrin, Yunpeng Wang, Anders M Dale, Arn M J M van den Maagdenberg, Daniel I Chasman, Dale R Nyholt, Aarno Palotie, Ole A Andreassen, John-Anker Zwart
Migraine is a recurrent pain condition traditionally viewed as a neurovascular disorder, but little is known of its vascular basis. In epidemiological studies migraine is associated with an increased risk of cardiovascular disease, including coronary artery disease (CAD), suggesting shared pathogenic mechanisms. This study aimed to determine the genetic overlap between migraine and CAD, and to identify shared genetic risk loci, utilizing a conditional false discovery rate approach and data from two large-scale genome-wide association studies (GWAS) of CAD (C4D, 15,420 cases, 15,062 controls; CARDIoGRAM, 22,233 cases, 64,762 controls) and one of migraine (22,120 cases, 91,284 controls)...
2017: PloS One
https://www.readbyqxmd.com/read/28830810/rho-signaling-inhibitor-ccg-1423-inhibits-axonal-elongation-and-dendritic-complexity-of-rat-cortical-neurons
#11
Keietsu Kikuchi, Jun Shiota, Tetsuya Yamada, Mitsuru Ishikawa, Daisuke Ihara, Mamoru Fukuchi, Masaaki Tsuda, Akiko Tabuchi
CCG-1423, a chemical inhibitor of Rho signaling, blocks serum response factor (SRF)/megakaryoblastic leukemia 1 (MKL1)-mediated gene expression by inhibiting the nuclear accumulation of MKL1. Several studies have suggested that CCG-1423 interacts not only with MKL1, which has a critical role in the regulation of neuronal morphology, but also with phosphatase and actin regulator 1 (Phactr1), which is localized at synapses. However, the effect of CCG-1423 on neuronal cells, especially on neuronal morphology, remains to be determined...
October 21, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28803787/expression-analyses-of-phactr1-phosphatase-and-actin-regulator-1-during-mouse-brain-development
#12
Hidenori Ito, Makoto Mizuno, Kei Noguchi, Rika Morishita, Ikuko Iwamoto, Akira Hara, Koh-Ichi Nagata
Phactr1 (Phosphatase and actin regulator 1) is abundantly expressed in the central nervous system and considered to regulate various neuronal processes through the regulation of protein phosphorylation and actin cytoskeletal organization. In this study, we prepared a specific antibody against Phactr1, anti-Phactr1, and carried out biochemical and morphological analyses of Phactr1 with mouse brain tissues. Western blotting analyses revealed that Phactr1 was expressed in a tissue-dependent profile in the young adult mouse and in a developmental stage-dependent manner in the mouse brain...
March 2018: Neuroscience Research
https://www.readbyqxmd.com/read/28753427/a-genetic-variant-associated-with-five-vascular-diseases-is-a-distal-regulator-of-endothelin-1-gene-expression
#13
Rajat M Gupta, Joseph Hadaya, Aditi Trehan, Seyedeh M Zekavat, Carolina Roselli, Derek Klarin, Connor A Emdin, Catharina R E Hilvering, Valerio Bianchi, Christian Mueller, Amit V Khera, Russell J H Ryan, Jesse M Engreitz, Robbyn Issner, Noam Shoresh, Charles B Epstein, Wouter de Laat, Jonathan D Brown, Renate B Schnabel, Bradley E Bernstein, Sekar Kathiresan
Genome-wide association studies (GWASs) implicate the PHACTR1 locus (6p24) in risk for five vascular diseases, including coronary artery disease, migraine headache, cervical artery dissection, fibromuscular dysplasia, and hypertension. Through genetic fine mapping, we prioritized rs9349379, a common SNP in the third intron of the PHACTR1 gene, as the putative causal variant. Epigenomic data from human tissue revealed an enhancer signature at rs9349379 exclusively in aorta, suggesting a regulatory function for this SNP in the vasculature...
July 27, 2017: Cell
https://www.readbyqxmd.com/read/28720499/coronary-artery-disease-associated-gene-phactr1-modulates-severity-of-vascular-calcification-in-vitro
#14
Redouane Aherrahrou, Zouhair Aherrahrou, Heribert Schunkert, Jeanette Erdmann
Calcification of vessels is strongly associated with atherosclerosis and leads to coronary artery disease (CAD) and myocardial infarction (MI). Genome-wide association studies (GWAS) revealed several genes that are associated with and contribute to CAD/MI as well as coronary artery calcification (CAC); however, the underlying mechanisms are unknown. PHACTR1, which encodes phosphatase and actin regulator 1, is among these risk genes. The aim of this study was to functionally test whether Phactr1 regulates calcification in vitro using murine embryonic stem cell (mESC)-derived smooth muscle cells (SMCs)...
September 16, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28287809/increased-risk-of-chd-in-the-presence-of-rs7865618-a-allele-tehran-lipid-and-glucose-study
#15
Samaneh Matoo, Mohammad Sadegh Fallah, Maryam Sadat Daneshpour, Reyhaneh Mousavi, Bahareh Sedaghati Khayat, Mandana Hasanzad, Fereidoun Azizi
BACKGROUND: Recent genome-wide association studies (GWAS) in European populations have indicated that the rs12526453 polymorphism located in phosphatase and actin regulator 1 gene (PHACTR1), mapping to chromosome 6p24 and rs7865618 polymorphism in the cyclin-dependent kinase inhibitor B antisense RNA 1 gene (CDKN2B-AS1) on 9p21.3 are associated with coronary heart disease (CHD). This study was carried out to investigate the association of these polymorphisms and CHD in an Iranian population...
March 2017: Archives of Iranian Medicine
https://www.readbyqxmd.com/read/28059143/influence-of-coronary-artery-disease-and-subclinical-atherosclerosis-related-polymorphisms-on-the-risk-of-atherosclerosis-in-rheumatoid-arthritis
#16
Raquel López-Mejías, Alfonso Corrales, Esther Vicente, Montserrat Robustillo-Villarino, Carlos González-Juanatey, Javier Llorca, Fernanda Genre, Sara Remuzgo-Martínez, Trinidad Dierssen-Sotos, José A Miranda-Filloy, Marco A Ramírez Huaranga, Trinitario Pina, Ricardo Blanco, Juan J Alegre-Sancho, Enrique Raya, Verónica Mijares, Begoña Ubilla, Iván Ferraz-Amaro, Carmen Gómez-Vaquero, Alejandro Balsa, Francisco J López-Longo, Patricia Carreira, Isidoro González-Álvaro, J Gonzalo Ocejo-Vinyals, Luis Rodríguez-Rodríguez, Benjamín Fernández-Gutiérrez, Santos Castañeda, Javier Martín, Miguel A González-Gay
A genetic component influences the development of atherosclerosis in the general population and also in rheumatoid arthritis (RA). However, genetic polymorphisms associated with atherosclerosis in the general population are not always involved in the development of cardiovascular disease (CVD) in RA. Accordingly, a study in North-American RA patients did not show the association reported in the general population of coronary artery disease with a series of relevant polymorphisms (TCF21, LPA, HHIPL1, RASD1-PEMT, MRPS6, CYP17A1-CNNM2-NT5C2, SMG6-SRR, PHACTR1, WDR12 and COL4A1-COL4A2)...
January 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/27893421/phactr1-and-slc22a3-gene-polymorphisms-are-associated-with-reduced-coronary-artery-disease-risk-in-the-male-chinese-han-population
#17
Qingbin Zhao, Huiyi Wei, Dandan Liu, Baolan Shi, Lei Li, Mengdan Yan, Xiyang Zhang, Fengjiao Wang, Yongri Ouyang
Previous studies showed that PHACTR1 and SLC22A3 are involved in coronary vascular development and are key determinants of cardiovascular disease risk. We conducted a case-control study to examine the effect of SLC22A3 and PHACTR1 single nucleotide polymorphisms (SNPs) on CAD risk among 376 male CAD patients and 388 male healthy controls from China. Eleven SLC22A3 and PHACTR1 SNPs were selected and genotyped using Sequenom Mass-ARRAY technology. Odds ratios (OR) and 95% confidence intervals (CIs) were calculated using unconditional logistic regression adjusting for age...
January 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/27876132/possible-role-of-intronic-polymorphisms-in-the-phactr1-gene-on-the-development-of-cardiovascular-disease
#18
José Manuel Rodríguez-Pérez, Ruben Blachman-Braun, Alan Pomerantz, Gilberto Vargas-Alarcón, Rosalinda Posadas-Sánchez, Nonanzit Pérez-Hernández
Cardiovascular disease (CVD) is a complex multifactorial and polygenetic disease in which the interaction of numerous genes, genetic variants, and environmental factors plays a major role in its development. In an attempt to demonstrate the association between certain genetic variants and CVD, researchers have run large genomic wild association studies (GWAS) in recent decades. These studies have correlated several genomic variants with the presence of CVD. Recently, certain polymorphisms in the phosphatase and actin regulator 1 (PHACTR1) gene have been shown to be associated with CVD (i...
December 2016: Medical Hypotheses
https://www.readbyqxmd.com/read/27792790/phactr1-is-a-genetic-susceptibility-locus-for-fibromuscular-dysplasia-supporting-its-complex-genetic-pattern-of-inheritance
#19
Soto Romuald Kiando, Nathan R Tucker, Luis-Jaime Castro-Vega, Alexander Katz, Valentina D'Escamard, Cyrielle Tréard, Daniel Fraher, Juliette Albuisson, Daniella Kadian-Dodov, Zi Ye, Erin Austin, Min-Lee Yang, Kristina Hunker, Cristina Barlassina, Daniele Cusi, Pilar Galan, Jean-Philippe Empana, Xavier Jouven, Anne-Paule Gimenez-Roqueplo, Patrick Bruneval, Esther Soo Hyun Kim, Jeffrey W Olin, Heather L Gornik, Michel Azizi, Pierre-François Plouin, Patrick T Ellinor, Iftikhar J Kullo, David J Milan, Santhi K Ganesh, Pierre Boutouyrie, Jason C Kovacic, Xavier Jeunemaitre, Nabila Bouatia-Naji
Fibromuscular dysplasia (FMD) is a nonatherosclerotic vascular disease leading to stenosis, dissection and aneurysm affecting mainly the renal and cerebrovascular arteries. FMD is often an underdiagnosed cause of hypertension and stroke, has higher prevalence in females (~80%) but its pathophysiology is unclear. We analyzed ~26K common variants (MAF>0.05) generated by exome-chip arrays in 249 FMD patients and 689 controls. We replicated 13 loci (P<10-4) in 402 cases and 2,537 controls and confirmed an association between FMD and a variant in the phosphatase and actin regulator 1 gene (PHACTR1)...
October 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27545877/stimulation-of-slack-k-channels-alters-mass-at-the-plasma-membrane-by-triggering-dissociation-of-a-phosphatase-regulatory-complex
#20
Matthew R Fleming, Maile R Brown, Jack Kronengold, Yalan Zhang, David P Jenkins, Gulia Barcia, Rima Nabbout, Anne E Bausch, Peter Ruth, Robert Lukowski, Dhasakumar S Navaratnam, Leonard K Kaczmarek
Human mutations in the cytoplasmic C-terminal domain of Slack sodium-activated potassium (KNa) channels result in childhood epilepsy with severe intellectual disability. Slack currents can be increased by pharmacological activators or by phosphorylation of a Slack C-terminal residue by protein kinase C. Using an optical biosensor assay, we find that Slack channel stimulation in neurons or transfected cells produces loss of mass near the plasma membrane. Slack mutants associated with intellectual disability fail to trigger any change in mass...
August 30, 2016: Cell Reports
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