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https://www.readbyqxmd.com/read/29423132/significant-transcriptional-changes-in-15q-duplication-but-not-angelman-syndrome-deletion-stem-cell-derived-neurons
#1
Nora Urraca, Kevin Hope, A Kaitlyn Victor, T Grant Belgard, Rawaha Memon, Sarita Goorha, Colleen Valdez, Quynh T Tran, Silvia Sanchez, Juanma Ramirez, Martin Donaldson, Dave Bridges, Lawrence T Reiter
Background: The inability to analyze gene expression in living neurons from Angelman (AS) and Duplication 15q (Dup15q) syndrome subjects has limited our understanding of these disorders at the molecular level. Method: Here, we use dental pulp stem cells (DPSC) from AS deletion, 15q Duplication, and neurotypical control subjects for whole transcriptome analysis. We identified 20 genes unique to AS neurons, 120 genes unique to 15q duplication, and 3 shared transcripts that were differentially expressed in DPSC neurons vs controls...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29399125/identification-of-potentially-relevant-genes-for-myocardial-infarction-using-rna-sequencing-data-analysis
#2
Qiang Zhao, Ke Wu, Nannan Li, Zhengmei Li, Fenglin Jin
Myocardial infarction (MI) is a heart disease with high morbidity and mortality rates, thus it is critical to identify genes that serve roles during its pathogenesis. The objective of the present study was to identify potentially relevant genes during the progression of the disease. Blood samples from patients with MI and normal controls (n=3/group) were obtained, the RNA was extracted and cDNA libraries were established. RNA sequencing (RNA-seq) was performed on a HiSeq 2500 platform and fragments per kilobase of exon per million fragments mapped was utilized to calculate the gene expression value following preprocessing of the RNA-seq data...
February 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29396519/an-accord-of-nuclear-receptor-expression-in-m-tuberculosis-infected-macrophages-and-dendritic-cells
#3
Ankita Saini, Sahil Mahajan, Nancy Ahuja, Ella Bhagyaraj, Rashi Kalra, Ashok Kumar Janmeja, Pawan Gupta
Mycobacterium tuberculosis instigates interactions with host factors to promote its survival within the host inimical conditions. Among such factors, nuclear receptors (NRs) seem to be promising candidates owing to their role in bacterial pathogenesis. However, only few members of NR superfamily have been implicated in M. tuberculosis infection and there is a dearth of comprehensive knowledge about expression or function of the entire superfamily. In this study, we performed detailed expression analysis and identified key NRs getting differentially regulated in murine macrophages and dendritic cells (DC) upon infection with H37Rv...
February 2, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29373860/cadmium-associated-differential-methylation-throughout-the-placental-genome-epigenome-wide-association-study-of-two-u-s-birth-cohorts
#4
Todd M Everson, Tracy Punshon, Brian P Jackson, Ke Hao, Luca Lambertini, Jia Chen, Margaret R Karagas, Carmen J Marsit
BACKGROUND: Cadmium (Cd) is a ubiquitous environmental toxicant that can accumulate in the placenta during pregnancy, where it may impair placental function and affect fetal development. OBJECTIVES: We aimed to investigate Cd-associated variations in placental DNA methylation (DNAM) and associations with gene expression; we also aimed to identify novel pathways involved in Cd-associated reproductive toxicity. METHODS: Using placental DNAM and Cd concentrations in the New Hampshire Birth Cohort Study (NHBCS, n=343) and the Rhode Island Child Health Study (RICHS, n=141), we performed an epigenome-wide association study (EWAS) between Cd and DNAM, adjusting for tissue heterogeneity using a reference-free method...
January 22, 2018: Environmental Health Perspectives
https://www.readbyqxmd.com/read/29313974/genetic-variants-in-rora-and-dnmt1-associated-with-cutaneous-melanoma-survival
#5
Bo Li, Yanru Wang, Yinghui Xu, Hongliang Liu, Wendy Bloomer, Dakai Zhu, Christopher I Amos, Shenying Fang, Jeffrey E Lee, Xin Li, Jiali Han, Qingyi Wei
Cutaneous melanoma (CM) is considered as a steroid hormone-related malignancy. However, few studies have evaluated the roles of genetic variants encoding steroid hormone receptor genes and their related regulators (SHR-related genes) in CM-specific survival (CMSS). Here, we performed a pathway-based analysis to evaluate genetic variants of 191 SHR-related genes in 858 CMSS patients using a dataset from a genome-wide association study (GWAS) from The University of Texas MD Anderson Cancer Center (MDACC), and then validated the results in an additional dataset of 409 patients from the Harvard GWAS...
January 4, 2018: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/29282706/the-association-of-rar-related-orphan-receptor-a-rora-gene-polymorphisms-with-the-risk-of-asthma
#6
Xulong Cai, Mali Lin, Shan Cao, Yunguang Liu, Na Lin
Asthma is a common, heterogeneous chronic respiratory disease characterized by chronic inflammation of the airway, airway hyperreactivity, and airway remodeling. The RAR-related orphan receptor A (RORA) gene has been identified for the pathogenesis of asthma. The purpose of this research was to investigate the relationship between RORA gene polymorphisms and asthma susceptibility in the Chinese Zhuang population. This was a case-control study including 231 children with asthma and 343 healthy controls. The RORA gene polymorphisms were measured by the polymerase chain reaction-ligase detection reaction genotyping assays and confirmed by sequencing...
December 28, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/29260453/hot-genes-in-schizophrenia-how-clinical-datasets-could-help-to-refine-their-role
#7
Stefano Porcelli, Soo-Jung Lee, Changsu Han, Ashwin A Patkar, Diego Albani, Tae-Youn Jun, Chi-Un Pae, Alessandro Serretti
We investigated the effect of a set of SNPs within 5 genes identified by GWASs as possible risk genes for schizophrenia (SCZ) in two independent samples, comprising 176 SCZ patients and 326 controls of Korean origin and 83 SCZ patients and 194 controls of Italian origin. The PANSS was used to assess psychopathology severity and antipsychotic response (AR). Several clinical features were assessed at recruitment. In the Korean sample, the SP4 gene haplotype rs2282888-rs2237304-rs10272006-rs12673091 (p = 0...
December 19, 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/29249819/chromothripsis-in-acute-myeloid-leukemia-biological-features-and-impact-on-survival
#8
M C Fontana, G Marconi, J D M Feenstra, E Fonzi, C Papayannidis, A G L di Rorá, A Padella, V Solli, E Franchini, E Ottaviani, A Ferrari, C Baldazzi, N Testoni, I Iacobucci, S Soverini, T Haferlach, V Guadagnuolo, L Semerad, M Doubek, M Steurer, Z Racil, S Paolini, M Manfrini, M Cavo, G Simonetti, R Kralovics, G Martinelli
Chromothripsis is a one-step genome-shattering catastrophe resulting from disruption of one or few chromosomes in multiple fragments and consequent random rejoining and repair. This study define incidence of chromothripsis in 395 newly-diagnosed adult acute myeloid leukemia (AML) patients from three institutions, its impact on survival and its genomic background. SNP 6.0 or CytoscanHD Array (Affymetrix®) were performed on all samples. We detected chromothripsis with a custom algorithm in 26/395 patients. Patients harboring chromothripsis had higher age (P=0...
December 18, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/29111822/repercussions-of-hypo-and-hyperthyroidism-on-the-heart-circadian-clock
#9
Rodrigo A Peliciari-Garcia, Paula Bargi-Souza, Martin E Young, Maria Tereza Nunes
Myocardial gene expression and metabolism fluctuate over the course of the day in association with changes in energy supply and demand. Time-of-day-dependent oscillations in myocardial processes have been linked to the intrinsic cardiomyocyte circadian clock. Triiodothyronine (T3) is an important modulator of heart metabolism and function. Recently, our group has reported time-of-day-dependent rhythms in cardiac T3 sensitivity, as well as, T3-mediated acute alterations on core clock components. Hypo and hyperthyroidism are the second most prevalent endocrine disease worldwide...
November 7, 2017: Chronobiology International
https://www.readbyqxmd.com/read/29073752/rora-polymorphism-interacts-with-childhood-maltreatment-in-determining-anxiety-sensitivity-by-sex-a-preliminary-study-in-healthy-young-adults
#10
Jung-Ah Min, Heon-Jeong Lee, Seung-Hwan Lee, Young-Min Park, Seung-Gul Kang, Young-Gyu Park, Jeong-Ho Chae
Objective: Recent studies have reported associations of retinoid-related orphan receptor alpha (RORA) gene single nucleotide polymorphisms (SNPs) with depression and anxiety disorders. Based on these, we attempt to test whether RORA polymorphism is associated with anxiety sensitivity (AS), the intermediate phenotype of depression and anxiety disorders. Considering gene-environment interactions and sex differences in AS, childhood maltreatment (CM) and sex were considered as confounders...
November 30, 2017: Clinical Psychopharmacology and Neuroscience: the Official Scientific Journal of the Korean College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/29056335/laser-capture-and-deep-sequencing-reveals-the-transcriptomic-programmes-regulating-the-onset-of-pancreas-and-liver-differentiation-in-human-embryos
#11
Rachel E Jennings, Andrew A Berry, David T Gerrard, Stephen J Wearne, James Strutt, Sarah Withey, Mariya Chhatriwala, Karen Piper Hanley, Ludovic Vallier, Nicoletta Bobola, Neil A Hanley
To interrogate the alternative fates of pancreas and liver in the earliest stages of human organogenesis, we developed laser capture, RNA amplification, and computational analysis of deep sequencing. Pancreas-enriched gene expression was less conserved between human and mouse than for liver. The dorsal pancreatic bud was enriched for components of Notch, Wnt, BMP, and FGF signaling, almost all genes known to cause pancreatic agenesis or hypoplasia, and over 30 unexplored transcription factors. SOX9 and RORA were imputed as key regulators in pancreas compared with EP300, HNF4A, and FOXA family members in liver...
November 14, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/28938872/effect-of-vitamin-a-supplementation-on-gut-microbiota-in-children-with-autism-spectrum-disorders-a-pilot-study
#12
Juan Liu, Xiao Liu, Xue-Qin Xiong, Ting Yang, Ting Cui, Na-Li Hou, Xi Lai, Shu Liu, Min Guo, Xiao-Hua Liang, Qian Cheng, Jie Chen, Ting-Yu Li
BACKGROUND: Dysbiosis of gut microbiota are commonly reported in autism spectrum disorder (ASD) and may contribute to behavioral impairment. Vitamin A (VA) plays a role in regulation of gut microbiota. This study was performed to investigate the role of VA in the changes of gut microbiota and changes of autism functions in children with ASD. RESULTS: Sixty four, aged 1 to 8 years old children with ASD completed a 6-month follow-up study with VA intervention. High-performance liquid chromatography was used to assess plasma retinol levels...
September 22, 2017: BMC Microbiology
https://www.readbyqxmd.com/read/28900196/characterization-of-a-new-pathway-that-activates-lumisterol-in-vivo-to-biologically-active-hydroxylumisterols
#13
Andrzej T Slominski, Tae-Kang Kim, Judith V Hobrath, Zorica Janjetovic, Allen S W Oak, Arnold Postlethwaite, Zongtao Lin, Wei Li, Yukimasa Takeda, Anton M Jetten, Robert C Tuckey
Using LC/qTOF-MS we detected lumisterol, 20-hydroxylumisterol, 22-hydroxylumisterol, 24-hydroxylumisterol, 20,22-dihydroxylumisterol, pregnalumisterol, 17-hydroxypregnalumisterol and 17,20-dihydroxypregnalumisterol in human serum and epidermis, and the porcine adrenal gland. The hydroxylumisterols inhibited proliferation of human skin cells in a cell type-dependent fashion with predominant effects on epidermal keratinocytes. They also inhibited melanoma proliferation in both monolayer and soft agar. 20-Hydroxylumisterol stimulated the expression of several genes, including those associated with keratinocyte differentiation and antioxidative responses, while inhibiting the expression of others including RORA and RORC...
September 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28889016/the-effect-of-melatonin-from-slow-release-implants-on-basic-and-tlr-4-mediated-gene-expression-of-inflammatory-cytokines-and-their-receptors-in-the-choroid-plexus-in-ewes
#14
M Kowalewska, A P Herman, A Szczepkowska, J Skipor
The present study concerns the effect of melatonin from slow-release implants on the expression of genes coding interleukin-1β (Il1B), inerleukin-6 (Il6), tumour necrosis factor α (Tnf) and their receptors: IL-1 receptor type I (Il1r1) and type II (Il1r2), IL-6 receptor (Il6r) and signal transducer (Il6st), TNFα receptor type I (Tnfrsf1a) and II (Tnfrsf1b) and retinoid-related orphan receptor α (RorA) and Rev.-erbα in the ovine choroid plexus (CP) under basal and lipopolysaccharide (LPS)-challenged conditions...
September 5, 2017: Research in Veterinary Science
https://www.readbyqxmd.com/read/28863919/genome-wide-association-study-for-mandibular-prognathism-using-microsatellite-and-pooled-dna-method
#15
Fumio Saito, Takashi S Kajii, Akira Oka, Keiichiro Ikuno, Junichiro Iida
INTRODUCTION: The purpose of this study was to extend an association study from chromosome 1 to the whole genome (genome-wide association study) to find susceptibility loci of mandibular prognathism. METHODS: Two hundred forty patients diagnosed with mandibular prognathism and 360 healthy controls of Japanese descent were recruited. The typing of microsatellites covering the whole genome was conducted using a pooled DNA method. Upon completion of the first and second screenings with pooled DNA, the positive microsatellite markers from both the first and second typings were retyped using individual-subject DNA samples to confirm the significance of allele frequency...
September 2017: American Journal of Orthodontics and Dentofacial Orthopedics
https://www.readbyqxmd.com/read/28802563/metabolic-circuit-involving-free-fatty-acids-microrna-122-and-triglyceride-synthesis-in-liver-and-muscle-tissues
#16
Chofit Chai, Mila Rivkin, Liav Berkovits, Alina Simerzin, Elina Zorde-Khvalevsky, Nofar Rosenberg, Shiri Klein, Dayana Yaish, Ronen Durst, Shoshana Shpitzen, Shiran Udi, Joseph Tam, Joerg Heeren, Anna Worthmann, Christoph Schramm, Johannes Kluwe, Revital Ravid, Eran Hornstein, Hilla Giladi, Eithan Galun
BACKGROUND & AIMS: Effective treatments are needed for hepatic steatosis characterized by accumulation of triglycerides in hepatocytes, which leads to hepatocellular carcinoma. MicroRNA 122 (MIR122) is expressed only in the liver, where it regulates lipid metabolism. We investigated the mechanism by which free fatty acids (FFAs) regulate MIR122 expression and the effect of MIR122 on triglyceride synthesis. METHODS: We analyzed MIR122 promoter activity and validated its target mRNAs by transfection of Luciferase reporter plasmids into Huh7, BNL-1ME, and HEK293 cultured cell lines...
August 9, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28783681/the-orphan-nuclear-receptor-ror%C3%AE-and-group-3-innate-lymphoid-cells-drive-fibrosis-in-a-mouse-model-of-crohn-s-disease
#17
Bernard C Lo, Matthew J Gold, Michael R Hughes, Frann Antignano, Yanet Valdez, Colby Zaph, Kenneth W Harder, Kelly M McNagny
Fibrosis is the result of dysregulated tissue regeneration and is characterized by excessive accumulation of matrix proteins that become detrimental to tissue function. In Crohn's disease, this manifests itself as recurrent gastrointestinal strictures for which there is no effective therapy beyond surgical intervention. Using a model of infection-induced chronic gut inflammation, we show that Rora-deficient mice are protected from fibrosis; infected intestinal tissues display diminished pathology, attenuated collagen deposition, and reduced fibroblast accumulation...
September 2, 2016: Science Immunology
https://www.readbyqxmd.com/read/28777361/-associations-between-chronotype-road-accidents-and-polymorphisms-in-genes-linked-with-biological-clock-and-dopaminergic-system
#18
A O Taranov, A N Puchkova, P A Slominsky, T V Tupitsyna, V V Dementiyenko, V B Dorokhov
Public transport driving is a highly demanding activity requiring high skills and responsibility. Shift work, problems with regular sleep schedule negatively impact psychomotor reactions, cognitive functions and ability to react appropriately to the changing environment. For professional drivers all these factors may lead to the increased risk of a road accident. Individual differences in chronotype, cognitive and emotional control are partially genetically determined. AIM: Our study aimed to investigate the possible associations between chronotype parameters, traffic accident history and single nucleotide polymorphisms (SNPs) in a number of genes: RORA (rs1159814), CLOCK (rs12649507), PER3 (rs2640909), NPSR1 (rs324981), NPAS2 (rs4851377), DRD3 (rs6280), SLC6A3 (rs6347), DBH (rs1611125)...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28744254/metabolic-characterization-of-a-novel-ror%C3%AE-knockout-mouse-model-without-ataxia
#19
Cyrielle Billon, Sadichha Sitaula, Thomas P Burris
The retinoic acid receptor-related receptor α (RORα) is a nuclear receptor that plays an important role in regulation of metabolism and the immune system. Genetic deletion of the receptor yields mice with significant cerebellar developmental issues associated with severe ataxia. Although many metabolic studies have been performed in these models, the impaired locomotor activity of these mice is known to affect their normal mobility and feeding behaviors. This creates some difficulty in interpretation of the role of RORα in models of metabolic disease where feeding and muscle function is a critical component of the pathophysiology...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28729066/the-effect-of-high-fat-diet-on-daily-rhythm-of-the-core-clock-genes-and-muscle-functional-genes-in-the-skeletal-muscle-of-chinese-soft-shelled-turtle-trionyx-sinensis
#20
Li Liu, Guomin Jiang, Zhitao Peng, Yulong Li, Jinlong Li, Li Zou, Zhigang He, Xiaoqing Wang, Wuying Chu
In the present study, we sought to investigate the influence of high fat diet on the core clock genes and the muscle functional genes daily expression in the skeletal muscle of Chinese soft-shelled turtle. The turtles were fed by two diets including a control fat diet (the CON treatment, 7.98% lipid) and a high fat diet (the HFD treatment, 13.86% lipid) for six weeks and administrated by the photophase regimen of 24h light/dark (12L:12D) cycle. After the feeding trial experiment, we measured the daily expression levels of 17 core clock genes (Clock, Bmal1/2, NPAS2, Tim, Cry1/2, Per1/2, DBP, AANAT, NIFL3, BHLHE40, NR1D2, RORA, RORB, RORC) and 12 muscle functional genes (FBXO32, MBNL1, MSTN, Myf5, Myf6, MyoD, MyoG, MyoM1, PPARa, PDK4, Trim63, UCP3) in the skeletal muscle of the two treatments...
November 2017: Comparative Biochemistry and Physiology. Part B, Biochemistry & Molecular Biology
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