نتایج جستجو برای: rora

تعداد نتایج: 204  

2015
Valerie W Hu Tewarit Sarachana Rachel M Sherrard Kristen M Kocher

BACKGROUND Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by significant impairment in reciprocal social interactions and communication coupled with stereotyped, repetitive behaviors and restricted interests. Although genomic and functional studies are beginning to reveal some of the genetic complexity and underlying pathobiology of ASD, the consistently reported...

Journal: :Vision Research 2010
Alexandra C. Silveira Margaux A. Morrison Fei Ji Haiyan Xu James B. Reinecke Scott M. Adams Trevor M. Arneberg Maria Janssian Joo-Eun Lee Yang Yuan Debra A. Schaumberg Maria G. Kotoula Evangeline E. Tsironi Aristoteles N. Tsiloulis Dimitrios Z. Chatzoulis Joan W. Miller Ivana K. Kim Gregory S. Hageman Lindsay A. Farrer Neena B. Haider Margaret M. DeAngelis

To identify novel genes and pathways associated with AMD, we performed microarray gene expression and linkage analysis which implicated the candidate gene, retinoic acid receptor-related orphan receptor alpha (RORA, 15q). Subsequent genotyping of 159 RORA single nucleotide polymorphisms (SNPs) in a family-based cohort, followed by replication in an unrelated case-control cohort, demonstrated th...

Journal: :The Biochemical journal 2004
Caroline Chauvet Brigitte Bois-Joyeux Edurne Berra Jacques Pouyssegur Jean-Louis Danan

Retinoic acid-receptor-related orphan receptor (ROR) alpha is a nuclear receptor involved in many pathophysiological processes such as cerebellar ataxia, inflammation, atherosclerosis and angiogenesis. In the present study we first demonstrate that hypoxia increases the amount of Rora transcripts in a wide panel of cell lines derived from diverse tissues. In addition, we identified a functional...

Journal: :Brain research. Developmental brain research 2001
N Hadj-Sahraoui F Frederic H Zanjani N Delhaye-Bouchaud K Herrup J Mariani

Staggerer (Rora(sg/sg)) is an autosomal mutation in an orphan nuclear hormone receptor gene, RORalpha, that acts intrinsically within the Purkinje cells and causes dysgenesis of the cerebellar cortex. Purkinje cell number is severely reduced, and the surviving cells are small with poorly developed dendrites. In contrast, the cytoarchitecture of the cerebellar cortex of the heterozygous staggere...

Journal: :Journal of Alzheimer's disease : JAD 2015
George K Acquaah-Mensah Nnenna Agu Tayyiba Khan Alice Gardner

Alzheimer's disease (AD) is the leading cause of dementia. The etiology of AD remains, in large part, unresolved. In this study, gene expression (microarray) data from postmortem brains in normal aged as well as AD-affected brains in conjunction with transcriptional regulatory networks were explored for etiological insights. The focus was on the hippocampus, a brain region key to memory and lea...

2014
Paolo Devanna Sonja C. Vernes

Retinoic acid-related orphan receptor alpha gene (RORa) and the microRNA MIR137 have both recently been identified as novel candidate genes for neuropsychiatric disorders. RORa encodes a ligand-dependent orphan nuclear receptor that acts as a transcriptional regulator and miR-137 is a brain enriched small non-coding RNA that interacts with gene transcripts to control protein levels. Given the m...

2015
Yin-Chieh Lai Chung-Feng Kao Mong-Liang Lu Hsi-Chung Chen Po-Yu Chen Chien-Hsiun Chen Winston W. Shen Jer-Yuarn Wu Ru-Band Lu Po-Hsiu Kuo

Several genes that are involved in the regulation of circadian rhythms are implicated in the susceptibility to bipolar disorder (BD). The current study aimed to investigate the relationships between genetic variants in NR1D1 RORA, and RORB genes and BD in the Han Chinese population. We conducted a case-control genetic association study with two samples of BD patients and healthy controls. Sampl...

Journal: :Journal of neurogenetics 2005
Nathalie Journiac Mohamed Doulazmi Fabrice Pajak Jean Mariani Beatrice Vernet-der Garabedian

Elevated levels of pro-inflammatory cytokines, such as IL-1ss and IL-6, have been detected in the cerebellum of Rora(sg/sg) mice during the first postnatal month of neurodegenerative process. This suggests the existence of a microglial reaction in the context of an inflammatory process that would be triggered by the massive neuronal loss. To test this hypothesis, we qualitatively and quantitati...

2015
Sarah R Lowe Jacquelyn L Meyers Sandro Galea Allison E Aiello Monica Uddin Derek E Wildman Karestan C Koenen

BACKGROUND Longitudinal studies of posttraumatic stress (PTS) have documented environmental factors as predictors of trajectories of higher, versus lower, symptoms, among them experiences of childhood physical abuse. Although it is now well-accepted that genes and environments jointly shape the risk of PTS, no published studies have investigated genes, or gene-by-environment interactions (GxEs)...

2011
Tewarit Sarachana Minyi Xu Ray-Chang Wu Valerie W. Hu

Autism, a pervasive neurodevelopmental disorder manifested by deficits in social behavior and interpersonal communication, and by stereotyped, repetitive behaviors, is inexplicably biased towards males by a ratio of ∼4∶1, with no clear understanding of whether or how the sex hormones may play a role in autism susceptibility. Here, we show that male and female hormones differentially regulate th...

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