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https://www.readbyqxmd.com/read/29306089/phenotype-variability-of-glut1-deficiency-syndrome-description-of-a-case-series-with-novel-slc2a1-gene-mutations
#1
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.
January 3, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29303961/individualizing-treatment-approaches-for-epileptic-patients-with-glucose-transporter-type1-glut-1-deficiency
#2
REVIEW
Armond Daci, Adnan Bozalija, Fisnik Jashari, Shaip Krasniqi
Monogenic and polygenic mutations are important contributors in patients suffering from epilepsy, including metabolic epilepsies which are inborn errors of metabolism with a good respond to specific dietetic treatments. Heterozygous variation in solute carrier family 2, facilitated glucose transporter member 1 (SLC2A1) and mutations of the GLUT1/SLC2A2 gene results in the failure of glucose transport, which is related with a glucose type-1 transporter (GLUT1) deficiency syndrome (GLUT1DS). GLUT1 deficiency syndrome is a treatable disorder of glucose transport into the brain caused by a variety of mutations in the SLC2A1 gene which are the cause of different neurological disorders also with different types of epilepsy and related clinical phenotypes...
January 5, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29228554/systemic-analysis-of-gene-expression-profiles-in-porcine-granulosa-cells-during-aging
#3
Li Hui, Guo Shuangshuang, Yu Jianning, Shi Zhendan
Current studies have revealed that aging is a negative factor that suppresses granulosa cell functions and causes low fertility in women. However, the difference in gene expression between normal and aging granulosa cells remains undefined. Therefore, the aim of this study was to investigate the gene expression profiles of granulosa cells during aging. Granulosa cells from young healthy porcine ovaries were aged in vitro by prolonging the culture time (for 48h). First, the extracellular ultrastructure was observed by scanning electron microscopy followed by RNA-seq and KEGG pathway analysis...
November 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/29223885/three-novel-slc2a1-mutations-in-bulgarian-patients-with-different-forms-of-genetic-generalized-epilepsy-reflecting-the-clinical-and-genetic-diversity-of-glut1-deficiency-sydnrome
#4
Nevyana Ivanova, Valentina Peycheva, Kunka Kamenarova, Dalia Kancheva, Irina Tsekova, Iliana Aleksandrova, Dimitrina Hristova, Ivan Litvinenko, Diana Todorova, Gergana Sarailieva, Petya Dimova, Veselin Tomov, Veneta Bozhinova, Vanio Mitev, Radka Kaneva, Albena Jordanova
PURPOSE: GLUT1-deficiency syndrome (GLUT1-DS) is a metabolic brain disorder with a great clinical heterogeneity underlined by various mutations in the SLC2A1 gene which make the clinical and genetic diagnosis complicated. The purpose of our study is to investigate the genetic defects affecting the SLC2A1 gene in a group of Bulgarian patients with genetic generalized epilepsy (GGE), and to bring new insights into the molecular pathology of GLUT1-DS that would strengthen the genotype-phenotype correlations and improve the diagnostic procedure...
November 28, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29223655/in%C3%A2-vitro-cultured-bovine-endometrial-cells-recognize-embryonic-sex
#5
E Gómez, M J Sánchez-Calabuig, D Martin, S Carrocera, A Murillo, E Correia-Alvarez, P Herrero, N Canela, A Gutiérrez-Adán, S Ulbrich, M Muñoz
Endometrial cell co-culture (ECC) with single embryo may reflect endometrium responses in vivo. Bovine Day-6 in vitro-produced morulae were cultured until Day-8 in modified synthetic oviductal fluid (mSOF), or on the epithelial side of ECC. Expression of epithelial- and stromal-cell transcripts was analyzed by RT-PCR in ECC with one male (ME) or female embryo (FE). Concentrations of ARTEMIN (ARTN) and total protein were determined in epithelial cell-conditioned medium. ECCs yielded embryos with more cells in the inner cell mass than embryos cultured in mSOF...
December 5, 2017: Theriogenology
https://www.readbyqxmd.com/read/29207384/slc2a1-tag-snps-in-greek-patients-with-diabetic-retinopathy-and-nephropathy
#6
Vasileios Siokas, Anatoli Fotiadou, Efthimios Dardiotis, Maria G Kotoula, Sophia V Tachmitzi, Dimitrios Z Chatzoulis, Elias Zintzaras, Ioannis Stefanidis, Evangelia E Tsironi
Backround: Genetic variants are implicated in the development of diabetic retinopathy (DR) and nephropathy (DN). The role of solute carrier family 2-facilitated glucose transporter member 1 (SLC2A1), also known as glucose transporter (GLUT1), on DR and DN remain controversial. OBJECTIVE: Examination of the influence of tag SLC2A1 single-nucleotide polymorphisms (SNPs) on the development of DR and DN during the course of type 2 diabetes mellitus (T2DM). METHODS: A total of 169 patients with DR or DN, 107 uncomplicated T2DM patients, and 315 controls were recruited and genotyped for 14 SLC2A1 tag SNPs...
December 6, 2017: Ophthalmic Research
https://www.readbyqxmd.com/read/29190809/molecular-diagnosis-of-patients-with-epilepsy-and-developmental-delay-using-a-customized-panel-of-epilepsy-genes
#7
Laura Ortega-Moreno, Beatriz G Giráldez, Victor Soto-Insuga, Rebeca Losada-Del Pozo, María Rodrigo-Moreno, Cristina Alarcón-Morcillo, Gema Sánchez-Martín, Esther Díaz-Gómez, Rosa Guerrero-López, José M Serratosa
Pediatric epilepsies are a group of disorders with a broad phenotypic spectrum that are associated with great genetic heterogeneity, thus making sequential single-gene testing an impractical basis for diagnostic strategy. The advent of next-generation sequencing has increased the success rate of epilepsy diagnosis, and targeted resequencing using genetic panels is the a most cost-effective choice. We report the results found in a group of 87 patients with epilepsy and developmental delay using targeted next generation sequencing (custom-designed Haloplex panel)...
2017: PloS One
https://www.readbyqxmd.com/read/29108634/maternal-growth-restriction-and-stress-exposure-in-rats-differentially-alters-expression-of-components-of-the-placental-glucocorticoid-barrier-and-nutrient-transporters
#8
Jessica F Briffa, Sogand S Hosseini, Melanie Tran, Karen M Moritz, James S M Cuffe, Mary E Wlodek
The placenta plays a major role in the development of fetal growth restriction, which affects 10% of pregnancies and contributes to chronic adult disease risk. We have reported that female rats born small develop cardiometabolic dysfunction only during pregnancy. The physiological tests performed during pregnancy induced a maternal stress response as indicated by increased maternal corticosterone concentrations. This stress effected placental growth compared to females who were unhandled during pregnancy. Maternal stress and growth restriction independently program F2 offspring metabolic dysfunction...
November 2017: Placenta
https://www.readbyqxmd.com/read/29084003/a-genome-wide-comprehensive-analysis-of-alterations-in-driver-genes-in-non-small-cell-lung-cancer
#9
Jun Yi, Xiang Wei, Xinqiang Li, Lei Wan, Jiashou Dong, Rui Wang
Lung cancer is one of the most common malignancies and the leading cause of cancer-related deaths worldwide. Although many oncogenes and tumor suppressors have been uncovered in the past decades, the pathogenesis and mechanisms of lung tumorigenesis and progression are unclear. The advancement of high-throughput sequencing technique and bioinformatics methods has led to the discovery of some unknown important protein-coding genes or noncoding RNAs in human cancers. In this study, we tried to identify and validate lung cancer driver genes to facilitate the diagnosis and individualized treatment of patients with this disease...
January 2018: Anti-cancer Drugs
https://www.readbyqxmd.com/read/29057314/lung-squamous-cell-carcinoma-exhibits-a-targetable-glucose-dependency-unique-among-non-small-cell-lung-cancers
#10
Justin Goodwin, Michael L Neugent, Jung-Whan Kim
Cancer cells consume high amounts of glucose for their cellular bioenergetic and anabolic requirements, relying on glucose to fuel their growth. We recently reported that lung squamous cell carcinoma, a major subtype of non-small cell lung cancer (NSCLC), exhibits remarkably elevated glucose transporter GLUT1 (encoded by SLC2A1) expression and glucose dependency, while another subtype of NSCLC, lung adenocarcinoma, shows significant glucose independence. Our findings highlight the metabolic heterogeneity of glucose metabolism among lung cancer subtypes, which can be exploited for targeted lung cancer therapies...
2017: Molecular & Cellular Oncology
https://www.readbyqxmd.com/read/29056246/diagnostic-yield-from-339-epilepsy-patients-screened-on-a-clinical-gene-panel
#11
Kameryn M Butler, Cristina da Silva, John J Alexander, Madhuri Hegde, Andrew Escayg
BACKGROUND: The contribution of genetic factors to epilepsy has long been recognized and has been estimated to play a role in 70% to 80% of cases. Identification of a pathogenic variant can help families to better cope with the disorder, allows for genetic counseling to determine recurrence risk, and in some cases, can directly influence treatment options. In this study, we determined the diagnostic yield of a clinical gene panel applied to an unselected cohort of epilepsy patients. METHODS: Variant reports from 339 clinically referred epilepsy patients screened using a 110-gene panel were retrospectively reviewed...
September 6, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28977592/cftr-influences-beta-cell-function-and-insulin-secretion-through-non-cell-autonomous-exocrine-derived-factors
#12
Xingshen Sun, Yaling Yi, Weiliang Xie, Bo Liang, Michael C Winter, Nan He, Xiaoming Liu, Meihui Luo, Yu Yang, Katie Larson Ode, Aliye Uc, Andrew W Norris, John F Engelhardt
Although β-cell dysfunction in cystic fibrosis (CF) leads to diabetes, the mechanism by which the cystic fibrosis transmembrane conductance regulator (CFTR) channel influences islet insulin secretion remains debated. We investigated the CFTR-dependent islet-autonomous mechanisms affecting insulin secretion by using islets isolated from CFTR knockout ferrets. Total insulin content was lower in CF as compared with wild-type (WT) islets. Furthermore, glucose-stimulated insulin secretion (GSIS) was impaired in perifused neonatal CF islets, with reduced first, second, and amplifying phase secretion...
October 1, 2017: Endocrinology
https://www.readbyqxmd.com/read/28964519/inhibiting-prolactin-by-cabergoline-accelerates-mammary-gland-remodeling-during-the-early-dry-period-in-dairy-cows
#13
M Boutinaud, N Isaka, E Gandemer, P Lamberton, S Wiart, A I De Prado Taranilla, L M Sordillo, V Lollivier
The inhibition of prolactin release using cabergoline, a dopamine agonist, is an effective strategy to accelerate the changes in mammary secretion composition after drying-off. The objective of this study was to determine how cabergoline may affect mammary tissue remodeling during early involution. Holstein dairy cows were treated with either a single i.m. administration of 5.6 mg of cabergoline (Velactis, Ceva Santé Animale, Libourne, France, n = 7) or placebo (n = 7) at the time of drying-off. Mammary biopsy samples were collected 1 wk before drying-off (d -6), after 30 h of milk accumulation (d 1), and again 8 d following drying-off (d 8) to determine changes in gene expression, lactoferrin content, and cell turnover...
September 27, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/28954515/inner-blood-retinal-barrier-dominantly-expresses-breast-cancer-resistance-protein-comparative-quantitative-targeted-absolute-proteomics-study-of-cns-barriers-in-pig
#14
Zhengyu Zhang, Yasuo Uchida, Satoshi Hirano, Daisuke Ando, Yoshiyuki Kubo, Seppo Auriola, Shin-Ichi Akanuma, Ken-Ichi Hosoya, Arto Urtti, Tetsuya Terasaki, Masanori Tachikawa
The purpose of this study was to determine absolute protein expression levels of transporters at the porcine inner blood-retinal barrier (BRB) and to compare the transporter protein expression quantitatively among the inner BRB, outer BRB, blood-brain barrier (BBB), and blood-cerebrospinal fluid barrier (BCSFB). Crude membrane fractions of isolated retinal capillaries (inner BRB) and isolated retinal pigment epithelium (RPE, outer BRB) were prepared from porcine eyeballs, while plasma membrane fractions were prepared from isolated porcine brain capillaries (BBB) and isolated choroid plexus (BCSFB)...
November 6, 2017: Molecular Pharmaceutics
https://www.readbyqxmd.com/read/28933603/autophagy-enables-retromer-dependent-plasma-membrane-translocation-of-slc2a1-glut1-to-enhance-glucose-uptake
#15
Srirupa Roy, Jayanta Debnath
No abstract text is available yet for this article.
September 21, 2017: Autophagy
https://www.readbyqxmd.com/read/28871187/prolonged-fasting-elicits-increased-hepatic-triglyceride-accumulation-in-rats-born-to-dexamethasone-treated-mothers
#16
Lucas Carminatti Pantaleão, Gilson Murata, Caio Jordão Teixeira, Tanyara Baliani Payolla, Junia Carolina Santos-Silva, Daniella Esteves Duque-Guimaraes, Frhancielly S Sodré, Camilo Lellis-Santos, Juliana Camargo Vieira, Dailson Nogueira de Souza, Patrícia Rodrigues Gomes, Sandra Campos Rodrigues, Gabriel Forato Anhe, Silvana Bordin
We investigated the effect of dexamethasone during the last week of pregnancy on glucose and lipid metabolism in male offspring. Twelve-week old offspring were evaluated after fasting for 12-hours (physiological) and 60-hours (prolonged). Physiological fasting resulted in glucose intolerance, decreased glucose clearance after pyruvate load and increased PEPCK expression in rats born to dexamethasone-treated mothers (DEX). Prolonged fasting resulted in increased glucose tolerance and increased glucose clearance after pyruvate load in DEX...
September 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28768834/placentome-nutrient-transporters-and-mammalian-target-of-rapamycin-signaling-proteins-are-altered-by-the-methionine-supply-during-late-gestation-in-dairy-cows-and-are-associated-with-newborn-birth-weight
#17
Fernanda Batistel, Abdulrahman Sm Alharthi, Ling Wang, Claudia Parys, Yuan-Xiang Pan, Felipe C Cardoso, Juan J Loor
Background: To our knowledge, most research demonstrating a link between maternal nutrition and both fetal growth and offspring development after birth has been performed with nonruminants. Whether such relationships exist in large ruminants is largely unknown.Objective: We aimed to investigate whether increasing the methionine supply during late pregnancy would alter uteroplacental tissue nutrient transporters and mammalian target of rapamycin (mTOR) and their relation with newborn body weight.Methods: Multiparous Holstein cows were used in a randomized complete block design experiment...
September 2017: Journal of Nutrition
https://www.readbyqxmd.com/read/28759122/differential-effects-of-late-gestation-maternal-overnutrition-on-the-regulation-of-surfactant-maturation-in-fetal-and-postnatal-life
#18
Mitchell C Lock, Erin V McGillick, Sandra Orgeig, I Caroline McMillen, Beverly S Mühlhäusler, Song Zhang, Janna L Morrison
KEY POINTS: Offspring of overweight and obese women are at greater risk for respiratory complications at birth. We determined the effect of late gestation maternal overnutrition (LGON) in sheep on surfactant maturation, glucose transport and fatty acid metabolism in the lung in fetal and postnatal life. There were significant decreases in surfactant components and numerical density of surfactant producing cells in the alveolar epithelium due to LGON in the fetal lung. However, there were no differences in the levels of these surfactant components between control and LGON lambs at 30 days of age...
November 1, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28724843/the-complex-structure-of-the-mouse-placental-labyrinth-revealed-by-double-immunofluorescence-labeling-of-slc2a1-and-gjb2
#19
Chaw Kyi-Tha-Thu, Toshihiro Takizawa
No abstract text is available yet for this article.
2017: Journal of Nippon Medical School, Nippon Ika Daigaku Zasshi
https://www.readbyqxmd.com/read/28708516/peroxisome-proliferator-activated-receptor-ppar-isoforms-are-differentially-expressed-in-peri-implantation-porcine-conceptuses
#20
Agnieszka Blitek, Magdalena Szymanska
Peroxisome proliferator-activated receptors (PPARs) are members of the nuclear receptor family of ligand-dependent transcription factors. PPARs are critical regulators of glucose homeostasis and lipid metabolism, and affect cell proliferation and differentiation. In the current study, we examined (1) the profiles of PPARA, PPARD, and PPARG mRNA expression and DNA binding activity in porcine conceptuses collected on Days 10-11 (spherical and tubular conceptuses), 11-12 (filamentous conceptuses), 13-14, and 15-16 (elongated conceptuses) of pregnancy, (2) the presence of PPARA, PPARD, and PPARG proteins in Days 10, 12, and 15 conceptuses...
June 13, 2017: Theriogenology
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