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SLC2A1

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https://www.readbyqxmd.com/read/29769561/transcriptome-analysis-of-circulating-pbmcs-to-understand-mechanism-of-high-altitude-adaptation-in-native-cattle-of-ladakh-region
#1
Preeti Verma, Ankita Sharma, Monika Sodhi, Kiran Thakur, Ranjit S Kataria, Saket K Niranjan, Vijay K Bharti, Prabhat Kumar, Arup Giri, Sahil Kalia, Manishi Mukesh
Ladakhi cattle is native population of Leh and Ladakh region and constantly exposed to hypobaric hypoxia over many generations. In present study, transcriptome signatures of cattle from Ladakh region (~5500 m) and Sahiwal cattle from tropical regions were evaluated using Agilent 44 K microarray chip. The top up-regulated genes in Ladakhi cows were INHBC, ITPRI, HECA, ABI3, GPR171, and HIF-1α involved in hypoxia and stress response. In Sahiwal cows, the top up-regulated genes eEF1A1, GRO1, CXCL2, DEFB3 and BOLA-DQA3 were associated with immune function and inflammatory response indicating their strong immune potential to combat the pathogens prevalent in the tropical conditions...
May 16, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29756233/a-novel-protein-based-prognostic-signature-improves-risk-stratification-to-guide-clinical-management-in-early-lung-adenocarcinoma-patients
#2
Elena Martínez-Terroba, Carmen Behrens, Fernando J de Miguel, Jackeline Agorreta, Eduard Monsó, Laura Millares, Cristina Sainz, Miguel Mesa-Guzman, Jose Luis Pérez-Gracia, María Dolores Lozano, Javier J Zulueta, Ruben Pio, Ignacio I Wistuba, Luis M Montuenga, María J Pajares
Each of the pathological stages (I-IIIa) in which surgically resected non-small cell lung cancer patients are classified conceals hidden biological heterogeneity, manifested in heterogeneous outcomes within each stage. Thus, the finding of robust and precise molecular classifiers to assess individual patient risk is an unmet medical need. Here we identified and validated the clinical utility of a new prognostic signature based on three proteins (BRCA1, QKI and SLC2A1) to stratify early lung adenocarcinoma patients according to their risk of recurrence or death...
May 13, 2018: Journal of Pathology
https://www.readbyqxmd.com/read/29754004/natural-disaster-related-prenatal-maternal-stress-is-associated-with-alterations-in-placental-glucocorticoid-system-the-qf2011-queensland-flood-study
#3
Joey St-Pierre, David P Laplante, Guillaume Elgbeili, Paul A Dawson, Sue Kildea, Suzanne King, Cathy Vaillancourt
We investigated the effects of a natural disaster (a sudden flood) as a source of prenatal maternal stress (PNMS) on the placental glucocorticoid system and glucose transporters. Whether the gestational age at the time of the flood moderated these effects was also evaluated. Placental samples were collected from participants in the 2011 Queensland Flood Study (QF2011) who were pregnant in the first or second trimester at the onset of the flood. Detailed questionnaire results for objective hardship and composite subjective distress were obtained to assess stress levels...
April 26, 2018: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/29741207/genetic-generalized-epilepsies
#4
Saul A Mullen, Samuel F Berkovic
The genetic generalized epilepsies (GGEs) are mainly genetically determined disorders. Although inheritance in most cases appears to be complex, involving multiple genes, variants of a number of genes are known to contribute. Pathogenic variants of SLC2A1 leading to autosomal-dominant GLUT1 deficiency account for up to 1% of cases, increasing to 10% of those with absence seizures starting before age 4 years. Copy number variants are found in around 3% of cases, acting as risk alleles. Copy number variation is much more common in those with comorbid learning disability...
May 9, 2018: Epilepsia
https://www.readbyqxmd.com/read/29735119/paroxysmal-dyskinesias
#5
Sara McGuire, Swati Chanchani, Divya S Khurana
Paroxysmal dyskinesias (PD) are hyperkinetic movement disorders where patients usually retain consciousness. Paroxysmal dyskinesias can be kinesigenic (PKD), nonkinesigenic (PNKD), and exercise induced (PED). These are usually differentiated from each other based on their phenotypic and genotypic characteristics. Genetic causes of PD are continuing to be discovered. Genes found to be involved in the pathogenesis of PD include MR-1, PRRT2, SLC2A1, and KCNMA1. The differential diagnosis is broad as PDs can mimic psychogenic events, seizure, or other movement disorders...
April 2018: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29730803/paroxysmal-ocular-movements-an-early-sign-in-glut1-deficiency-syndrome
#6
Sofia Reis, Joana Matias, Raquel Machado, José Paulo Monteiro
The authors describe a 3-year-old female, diagnosed with GLUT1 deficiency Syndrome, with a previously unreported mutation in exon 7 of the SLC2A1 gene: c.968_972 + 3del P. (Val323Alafs*53), characterized by a classic phenotypic of acquired microcephaly, developmental delay, ataxia, spasticity, and epilepsy. Ketogenic diet was started at the age of 30 months with epilepsy improvement. She presented paroxysmal ocular movements in the first 12 months of life, recently defined as "aberrant gaze saccades", that are present in the early phase of visual system development, being one of the first disease signs, but easily disregarded...
May 5, 2018: Metabolic Brain Disease
https://www.readbyqxmd.com/read/29726122/interstitial-microdeletion-of-the-1p34-3p34-2-region
#7
Joseph E Jacher, Jeffrey W Innis
BACKGROUND: Interstitial microdeletions of chromosome 1p34.3p34.2 are rare, but are continuing to be identified by the use of chromosome microarray. There have been fewer than 10 individuals identified who have deletions of the 1p34.3p34.2 region; all of these previously described individuals have deletions of the AGO1, AGO3, GRIK3, SLC2A1, or RIMS3 genes. Haploinsufficiency of these genes has been associated with neurodevelopmental delays. METHODS: Chromosome microarray, quantitative PCR, and fluorescence in situ hybridization were performed with DNA extracted from peripheral blood...
May 3, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29713289/the-molecular-basis-for-altered-cation-permeability-in-hereditary-stomatocytic-human-red-blood-cells
#8
REVIEW
Joanna F Flatt, Lesley J Bruce
Normal human RBCs have a very low basal permeability (leak) to cations, which is continuously corrected by the Na,K-ATPase. The leak is temperature-dependent, and this temperature dependence has been evaluated in the presence of inhibitors to exclude the activity of the Na,K-ATPase and NaK2Cl transporter. The severity of the RBC cation leak is altered in various conditions, most notably the hereditary stomatocytosis group of conditions. Pedigrees within this group have been classified into distinct phenotypes according to various factors, including the severity and temperature-dependence of the cation leak...
2018: Frontiers in Physiology
https://www.readbyqxmd.com/read/29708992/genetic-profiling-of-young-and-aged-endothelial-progenitor-cells-in-hypoxia
#9
Tzu-Wei Wu, Chun-Chieh Liu, Chung-Lieh Hung, Chih-Hsien Yen, Yih-Jer Wu, Li-Yu Wang, Hung-I Yeh
Age is a major risk factor for diseases caused by ischemic hypoxia, such as stroke and coronary artery disease. Endothelial progenitor cells (EPCs) are the major cells respond to ischemic hypoxia through angiogenesis and vascular remodeling. However, the effect of aging on EPCs and their responses to hypoxia are not well understood. CD34+ EPCs were isolated from healthy volunteers and aged by replicative senescence, which was to passage cells until their doubling time was twice as long as the original cells...
2018: PloS One
https://www.readbyqxmd.com/read/29672673/effects-of-preovulatory-estradiol-on-uterine-environment-and-conceptus-survival-from-fertilization-to-maternal-recognition-of-pregnancy
#10
Emmalee J Northrop, Jerica J J Rich, Robert A Cushman, Anthony K McNeel, Émerson M Soares, Kelsey Brooks, Thomas E Spencer, George A Perry
Preovulatory estradiol is known to impact embryo quality and survival. The objective of this study was to determine the effects of preovulatory estradiol on the uterine environment and conceptus survival through maternal recognition of pregnancy. Beef cows/heifers were AIed following induced ovulation. Cows were grouped into high and low preovulatory estradiol. Conceptuses were collected on d 16 nonsurgically (Rep 1; n = 20), or following slaughter (Rep 2; n = 29). Blood was collected to determine plasma glucose concentrations, and uterine luminal fluid (ULF) was analyzed for protein, glucose, and interferon tau concentrations...
April 17, 2018: Biology of Reproduction
https://www.readbyqxmd.com/read/29661800/chorionic-somatomammotropin-impacts-early-fetal-growth-and-placental-gene-expression
#11
Kimberly M Jeckel, Alexander C Boyarko, Gerrit Bouma, Quinton Winger, Russ V Anthony
Several developmental windows, including placentation, must be negotiated to establish and maintain pregnancy. Impaired placental function can lead to pre-eclampsia and/or intrauterine growth restriction (IUGR), resulting in increased infant mortality and morbidity. It has been hypothesized that chorionic somatomammotropin (CSH), plays a significant role in fetal development, potentially by modifying maternal and fetal metabolism. Recently, using lentiviral-mediated in vivo RNA interference in sheep, we demonstrated significant reductions in near-term (135 days of gestation; dGA) fetal and placental size, and altered fetal liver gene expression, resulting from CSH deficiency...
April 16, 2018: Journal of Endocrinology
https://www.readbyqxmd.com/read/29660430/the-protective-effect-of-hif3a-rna-interference-and-hif-prolyl-hydroxylase-inhibition-on-cardiomyocytes-under-anoxia-reoxygenation
#12
T Drevytska, E Gonchar, I Okhai, O Linnyk, I Mankovska, D Klionsky, V Dosenko
The aim of this study was to investigate the molecular mechanisms underlying the protective effects of hypoxia-inducible factor (HIF) signaling pathway activation in cardiomyocytes under anoxia-reoxygenation (A/R) injury. In this study, rat neonatal cardiomyocytes were pretreated with anti-Hif3A/Hif-3α siRNA or HIF-prolyl hydroxylase inhibitor prior to A/R injury. Our results showed that both HIF3A silencing and HIF-prolyl hydroxylase inhibition effectively increased the cell viability during A/R, led to changes in mRNA expression of HIF1-target genes, and reduced the loss of mitochondrial membrane potential (Δψm )...
April 13, 2018: Life Sciences
https://www.readbyqxmd.com/read/29629573/a-membranome-centered-approach-defines-novel-biomarkers-for-cellular-subtypes-in-the-intervertebral-disc
#13
Guus G H van den Akker, Lars M T Eijssen, Stephen M Richardson, Lodewijk W van Rhijn, Judith A Hoyland, Tim J M Welting, Jan Willem Voncken
Objective Lack of specific marker-sets prohibits definition and functional distinction of cellular subtypes in the intervertebral disc (IVD), such as those from the annulus fibrosus (AF) and the nucleus pulposus (NP). Design We recently generated immortalized cell lines from human NP and AF tissues; these comprise a set of functionally distinct clonal subtypes. Whole transcriptome analyses were performed of 12 phenotypically distinct clonal cell lines (4× NP-Responder, 4× NP-nonResponder, 2× AF-Sheet forming, and 2× AF-nonSheet forming)...
April 1, 2018: Cartilage
https://www.readbyqxmd.com/read/29624790/gene-therapy-for-glut1-deficient-mouse-using-an-adeno-associated-virus-vector-with-the-human-intrinsic-glut1-promoter
#14
Sachie Nakamura, Shin-Ichi Muramatsu, Naomi Takino, Mika Ito, Eriko F Jimbo, Kuniko Shimazaki, Tatsushi Onaka, Sumio Ohtsuki, Tetsuya Terasaki, Takanori Yamagata, Hitoshi Osaka
BACKGROUND: We generated an adeno-associated virus (AAV) vector in which the human SLC2A1 gene, encoding glucose transporter type 1 (GLUT1), was expressed under the human endogenous GLUT1 promoter (AAV-GLUT1). We examined whether AAV-GLUT1 administration could lead to functional improvement in GLUT1-deficient mice. METHODS: We extrapolated human endogenous GLUT1 promoter sequences from rat minimal Glut1 promoter sequences. We generated a tyrosine-mutant AAV9/3 vector in which human SLC2A1-myc-DDK was expressed under the human GLUT1 promoter (AAV-GLUT1)...
April 6, 2018: Journal of Gene Medicine
https://www.readbyqxmd.com/read/29604281/deletion-of-glut1-in-mouse-lens-epithelium-leads-to-cataract-formation
#15
Aditi Swarup, Brent A Bell, Jianhai Du, John Y S Han, Jamie Soto, E Dale Abel, Arturo Bravo-Nuevo, Paul G FitzGerald, Neal S Peachey, Nancy J Philp
The primary energy substrate of the lens is glucose and uptake of glucose from the aqueous humor is dependent on glucose transporters. GLUT1, the facilitated glucose transporter encoded by Slc2a1 is expressed in the epithelium of bovine, human and rat lenses. In the current study, we examined the expression of GLUT1 in the mouse lens and determined its role in maintaining lens transparency by studying effects of postnatal deletion of Slc2a1. In situ hybridization and immunofluorescence labeling were used to determine the expression and subcellular distribution of GLUT1 in the lens...
March 28, 2018: Experimental Eye Research
https://www.readbyqxmd.com/read/29530121/-glucose-transporter-1-deficiency-syndrome-features-of-movement-disorders-diagnosis-and-treatment
#16
Xin-Na Ji, Cui-Juan Xu, Zhi-Jie Gao, Shu-Hua Chen, Ke-Ming Xu, Qian Chen
OBJECTIVE: To investigate the clinical features, diagnosis and treatment of glucose transporter 1 deficiency syndrome (GLUT1-DS), as well as the diagnostic value of movement disorders. METHODS: The clinical data of four children with GLUT1-DS were collected, and their clinical features, treatment, and follow-up results were analyzed. RESULTS: There were two boys and two girls, with an age of onset of 2-15 months. Clinical manifestations included movement disorders, seizures, and developmental retardation...
March 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29506909/vegf-and-glut1-are-highly-heritable-inversely-correlated-and-affected-by-dietary-fat-intake-consequences-for-cognitive-function-in-humans
#17
Rita Schüler, Nicole Seebeck, Martin A Osterhoff, Veronica Witte, Agnes Flöel, Andreas Busjahn, Alexander Jais, Jens C Brüning, Turid Frahnow, Stefan Kabisch, Olga Pivovarova, Silke Hornemann, Michael Kruse, Andreas F H Pfeiffer
OBJECTIVE: Reduction of brain glucose transporter GLUT1 results in severe neurological dysfunction. VEGF is required to restore and maintain brain glucose uptake across the blood brain barrier via GLUT1, which was shown to be acutely diminished in response to a high fat diet (HFD) in mice. The genetic and HFD-related regulation and association of VEGF and GLUT1 (SLC2A1) in humans was investigated in the NUtriGenomic Analysis in Twins (NUGAT) study. METHODS: 92 healthy and non-obese twins were standardized to a high-carbohydrate low-fat diet for 6 weeks before switched to a 6-week HFD under isocaloric conditions...
May 2018: Molecular Metabolism
https://www.readbyqxmd.com/read/29401234/expression-of-glucose-transporters-slc2a1-slc2a8-and-slc2a12-in-different-chicken-muscles-during-ontogenesis
#18
Edouard Coudert, Christophe Praud, Joëlle Dupont, Sabine Crochet, Estelle Cailleau-Audouin, Thierry Bordeau, Estelle Godet, Anne Collin, Cécile Berri, Sophie Tesseraud, Sonia Métayer-Coustard
Glucose transport into cells is the first limiting step for the regulation of glucose homeostasis. In mammals, it is mediated by a family of facilitative glucose transporters (GLUTs) (encoded by SLC2A* genes), with a constitutive role (GLUT1), or insulin-sensitive transporters (GLUT4, GLUT8, and GLUT12). Compared to mammals, the chicken shows high levels of glycemia and relative insensitivity to exogenous insulin. To date, only GLUT1, GLUT8, and GLUT12 have been described in chicken skeletal muscles but not fully characterized, whereas GLUT4 was reported as lacking...
March 6, 2018: Journal of Animal Science
https://www.readbyqxmd.com/read/29374351/mir-328-mediates-a-metabolic-shift-in-colon-cancer-cells-by-targeting-slc2a1-glut1
#19
S Santasusagna, I Moreno, A Navarro, C Muñoz, F Martinez, R Hernández, J J Castellano, M Monzo
PURPOSE: Increasing evidence shows that altered metabolism is a critical hallmark in colon cancer. There is a strong need to explore the molecular mechanisms underlying cancer metabolism. Whether the aberrant expression of microRNAs contributes to cancer metabolism is not fully understood. miR-328 is a putative potential target of SLC2A1, but the regulating mechanism between them remains unknown. We have examined whether miR-328 directly regulates SLC2A1/GLUT1 expression in colon cancer cells...
January 26, 2018: Clinical & Translational Oncology
https://www.readbyqxmd.com/read/29306089/phenotype-variability-of-glut1-deficiency-syndrome-description-of-a-case-series-with-novel-slc2a1-gene-mutations
#20
Lidia Di Vito, Laura Licchetta, Tommaso Pippucci, Sara Baldassari, Carlotta Stipa, Barbara Mostacci, Lara Alvisi, Paolo Tinuper, Francesca Bisulli
No abstract text is available yet for this article.
February 2018: Epilepsy & Behavior: E&B
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