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https://www.readbyqxmd.com/read/29656859/dual-molecular-effects-of-dominant-rora-mutations-cause-two-variants-of-syndromic-intellectual-disability-with-either-autism-or-cerebellar-ataxia
#1
Claire Guissart, Xenia Latypova, Paul Rollier, Tahir N Khan, Hannah Stamberger, Kirsty McWalter, Megan T Cho, Susanne Kjaergaard, Sarah Weckhuysen, Gaetan Lesca, Thomas Besnard, Katrin Õunap, Lynn Schema, Andreas G Chiocchetti, Marie McDonald, Julitta de Bellescize, Marie Vincent, Hilde Van Esch, Shannon Sattler, Irman Forghani, Isabelle Thiffault, Christine M Freitag, Deborah Sara Barbouth, Maxime Cadieux-Dion, Rebecca Willaert, Maria J Guillen Sacoto, Nicole P Safina, Christèle Dubourg, Lauren Grote, Wilfrid Carré, Carol Saunders, Sander Pajusalu, Emily Farrow, Anne Boland, Danielle Hays Karlowicz, Jean-François Deleuze, Monica H Wojcik, Rena Pressman, Bertrand Isidor, Annick Vogels, Wim Van Paesschen, Lihadh Al-Gazali, Aisha Mohamed Al Shamsi, Mireille Claustres, Aurora Pujol, Stephan J Sanders, François Rivier, Nicolas Leboucq, Benjamin Cogné, Souphatta Sasorith, Damien Sanlaville, Kyle Retterer, Sylvie Odent, Nicholas Katsanis, Stéphane Bézieau, Michel Koenig, Erica E Davis, Laurent Pasquier, Sébastien Küry
RORα, the RAR-related orphan nuclear receptor alpha, is essential for cerebellar development. The spontaneous mutant mouse staggerer, with an ataxic gait caused by neurodegeneration of cerebellar Purkinje cells, was discovered two decades ago to result from homozygous intragenic Rora deletions. However, RORA mutations were hitherto undocumented in humans. Through a multi-centric collaboration, we identified three copy-number variant deletions (two de novo and one dominantly inherited in three generations), one de novo disrupting duplication, and nine de novo point mutations (three truncating, one canonical splice site, and five missense mutations) involving RORA in 16 individuals from 13 families with variable neurodevelopmental delay and intellectual disability (ID)-associated autistic features, cerebellar ataxia, and epilepsy...
April 10, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29588368/clock-phosphorylation-by-akt-regulates-its-nuclear-accumulation-and-circadian-gene-expression-in-peripheral-tissues
#2
Amelia K Luciano, Wenping Zhou, Jeans M Santana, Cleo Kyriakides, Heino Velazquez, William C Sessa
Circadian locomotor output cycles kaput (CLOCK) is a transcription factor which activates transcription of clock-controlled genes (CCG) by heterodimerizing with BMAL1 and binding to E-box elements on DNA. While several phosphorylation sites on CLOCK have already been identified, this study characterizes a novel phosphorylation site at Serine 845 (S836 in humans). Here we show that CLOCK is a novel AKT substrate in vitro and in cells, and this phosphorylation site is a negative regulator of CLOCK nuclear localization by acting as a binding site for 14-3-3 proteins...
March 27, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29580070/circadian-gene-methylation-profiles-are-associated-with-obesity-metabolic-disturbances-and-carbohydrate-intake
#3
Omar Ramos-Lopez, Mirian Samblas, Fermin I Milagro, Jose I Riezu-Boj, A B Crujeiras, J Alfredo Martinez, Mena Project
The circadian clock regulates the daily rhythms of several physiological and behavioral processes. Disruptions in clock genes have been associated with obesity and related comorbidities. This study aimed to analyze the association of DNA methylation signatures at circadian rhythm pathway genes with body mass index (BMI), metabolic profiles and dietary intakes. DNA methylation profiling was determined by microarray in white blood cells from 474 adults from the Methyl Epigenome Network Association (MENA) project...
March 26, 2018: Chronobiology International
https://www.readbyqxmd.com/read/29546053/-positive-regulation-of-rna-metabolic-process-ontology-group-highly-regulated-in-porcine-oocytes-matured-in-vitro-a-microarray-approach
#4
Piotr Celichowski, Mariusz J Nawrocki, Marta Dyszkiewicz-Konwińska, Maurycy Jankowski, Joanna Budna, Artur Bryja, Wiesława Kranc, Sylwia Borys, Sandra Knap, Sylwia Ciesiółka, Michal Jeseta, Karolina Piasecka-Stryczyńska, Ronza Khozmi, Dorota Bukowska, Paweł Antosik, Klaus P Brüssow, Małgorzata Bruska, Michał Nowicki, Maciej Zabel, Bartosz Kempisty
The cumulus-oocyte complexes (COCs) growth and development during folliculogenesis and oogenesis are accompanied by changes involving synthesis and accumulation of large amount of RNA and proteins. In this study, the transcriptomic profile of genes involved in "oocytes RNA synthesis" in relation to in vitro maturation in pigs was investigated for the first time. The RNA was isolated from oocytes before and after in vitro maturation (IVM). Interactions between differentially expressed genes/proteins belonging to "positive regulation of RNA metabolic process" ontology group were investigated by STRING10 software...
2018: BioMed Research International
https://www.readbyqxmd.com/read/29526809/an-innate-immune-response-and-altered-nuclear-receptor-activation-defines-the-spinal-cord-transcriptome-during-alpha-tocopherol-deficiency-in-ttpa-null-mice
#5
Carrie J Finno, Matthew H Bordbari, Giuliana Gianino, Brittni Ming-Whitfield, Erin Burns, Janel Merkel, Monica Britton, Blythe Durbin-Johnson, Erica A Sloma, Marissa McMackin, Gino Cortopassi, Victor Rivas, Marietta Barro, Cecilia K Tran, Ingrid Gennity, Hadi Habib, Libin Xu, Birgit Puschner, Andrew D Miller
Mice with deficiency in tocopherol (alpha) transfer protein gene develop peripheral tocopherol deficiency and sensory neurodegeneration. Ttpa-/- mice maintained on diets with deficient α-tocopherol (α-TOH) had proprioceptive deficits by six months of age, axonal degeneration and neuronal chromatolysis within the dorsal column of the spinal cord and its projections into the medulla. Transmission electron microscopy revealed degeneration of dorsal column axons. We addressed the potential pathomechanism of α-TOH deficient neurodegeneration by global transcriptome sequencing within the spinal cord and cerebellum...
March 8, 2018: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/29472722/chromothripsis-in-acute-myeloid-leukemia-biological-features-and-impact-on-survival
#6
Maria Chiara Fontana, Giovanni Marconi, Jelena D Milosevic Feenstra, Eugenio Fonzi, Cristina Papayannidis, Andrea Ghelli Luserna di Rorá, Antonella Padella, Vincenza Solli, Eugenia Franchini, Emanuela Ottaviani, Anna Ferrari, Carmen Baldazzi, Nicoletta Testoni, Ilaria Iacobucci, Simona Soverini, Torsten Haferlach, Viviana Guadagnuolo, Lukas Semerad, Michael Doubek, Michael Steurer, Zdenek Racil, Stefania Paolini, Marco Manfrini, Michele Cavo, Giorgia Simonetti, Robert Kralovics, Giovanni 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 defines 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...
February 23, 2018: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/29455641/circadian-pathway-genetic-variation-and-cancer-risk-evidence-from-genome-wide-association-studies
#7
Simone Mocellin, Saveria Tropea, Clara Benna, Carlo Riccardo Rossi
BACKGROUND: Dysfunction of the circadian clock and single polymorphisms of some circadian genes have been linked to cancer susceptibility, although data are scarce and findings inconsistent. We aimed to investigate the association between circadian pathway genetic variation and risk of developing common cancers based on the findings of genome-wide association studies (GWASs). METHODS: Single nucleotide polymorphisms (SNPs) of 17 circadian genes reported by three GWAS meta-analyses dedicated to breast (Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE) Consortium; cases, n = 15,748; controls, n = 18,084), prostate (Elucidating Loci Involved in Prostate Cancer Susceptibility (ELLIPSE) Consortium; cases, n = 14,160; controls, n = 12,724) and lung carcinoma (Transdisciplinary Research In Cancer of the Lung (TRICL) Consortium; cases, n = 12,160; controls, n = 16,838) in patients of European ancestry were utilized to perform pathway analysis by means of the adaptive rank truncated product (ARTP) method...
February 19, 2018: BMC Medicine
https://www.readbyqxmd.com/read/29423132/significant-transcriptional-changes-in-15q-duplication-but-not-angelman-syndrome-deletion-stem-cell-derived-neurons
#8
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
#9
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
#10
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
#11
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
#12
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...
June 1, 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
#13
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
#14
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...
February 2018: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/29249819/chromothripsis-in-acute-myeloid-leukemia-biological-features-and-impact-on-survival
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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