نتایج جستجو برای: endophenotypes

تعداد نتایج: 1086  

2015
Stephanie Williams Kelly Dew-Budd Kristen Davis Julie Anderson Ruth Bishop Kenda Freeman Dana Davis Katherine Bray Lauren Perkins Joana Hubickey Laura K. Reed

Genetic and environmental factors influence complex disease in humans, such as metabolic syndrome, and Drosophila melanogaster serves as an excellent model in which to test these factors experimentally. Here we explore the modularity of endophenotypes with an in-depth reanalysis of a previous study by Reed et al. (2014), where we raised 20 wild-type genetic lines of Drosophila larvae on four di...

2017
Elizabeth Matovinovic Pik Fang Kho Rodney A. Lea Miles C. Benton David A. Eccles Larisa M. Haupt Alex W. Hewitt Justin C. Sherwin David A. Mackey Lyn R. Griffiths

PURPOSE Primary open-angle glaucoma (POAG) refers to a group of heterogeneous diseases involving optic nerve damage. Two well-established risk factors for POAG are elevated intraocular pressure (IOP) and a thinner central corneal thickness (CCT). These endophenotypes exhibit a high degree of heritability across populations. Large-scale genome-wide association studies (GWASs) of outbred populati...

Journal: :European Psychiatry 2023

Introduction A wide variety of traits is heritable and has genetic loading, including schizophrenia spectrum disorders (SSDs) its associated neurocognitive features. The architecture SSDs polygenic, with the contribution thousands single nucleotide polymorphisms small effect an estimated SNP-heritability 24%. same occurs phenotypes such as intelligence or educational attainment. Therefore, meth...

2017
Manuel Alcaraz-Iborra Francisco Navarrete Elisa Rodríguez-Ortega Leticia de la Fuente Jorge Manzanares Inmaculada Cubero

Ethanol (EtOH) research has focused on stages of dependence. It is of paramount importance to more deeply understand the neurobehavioral factors promoting increased risk for EtOH binge drinking during the early stages of the addiction cycle. The first objective of this study was to evaluate whether C57BL/6J mice showing high drinking in the dark (DID) exhibit neurobehavioral traits known to con...

2012
Maria Franca Marongiu Daniela Poddie Susanna Porcu Maria Francesca Manchinu Maria Paola Castelli Valeria Sogos Valentina Bini Roberto Frau Elisabetta Caredda Maria Collu Maria Serafina Ristaldi

Although several genes are implicated in the pathogenesis of schizophrenia, in animal models for such a severe mental illness only some aspects of the pathology can be represented (endophenotypes). Genetically modified mice are currently being used to obtain or characterize such endophenotypes. Since its cloning and characterization CB1 receptor has increasingly become of significant physiologi...

Journal: :Investigative ophthalmology & visual science 2017
Mohsen Ghanbari Adriana I Iglesias Henriët Springelkamp Cornelia M van Duijn M Arfan Ikram Abbas Dehghan Stefan J Erkeland Caroline C W Klaver Magda A Meester-Smoor

Purpose To identify microRNAs (miRNAs) involved in primary open-angle glaucoma (POAG), using genetic data. MiRNAs are small noncoding RNAs that posttranscriptionally regulate gene expression. Genetic variants in miRNAs or miRNA-binding sites within gene 3'-untranslated regions (3'UTRs) are expected to affect miRNA function and contribute to disease risk. Methods Data from the recent genome-wi...

Journal: :Schizophrenia bulletin 2014
Gregory Light Tiffany A Greenwood Neal R Swerdlow Monica E Calkins Robert Freedman Michael F Green Raquel E Gur Ruben C Gur Laura C Lazzeroni Keith H Nuechterlein Ann Olincy Allen D Radant Larry J Seidman Larry J Siever Jeremy M Silverman Joyce Sprock William S Stone Catherine A Sugar Debby W Tsuang Ming T Tsuang Bruce I Turetsky David L Braff

BACKGROUND Twin and multiplex family studies have established significant heritability for schizophrenia (SZ), often summarized as 81%. The Consortium on the Genetics of Schizophrenia (COGS-1) family study was designed to deconstruct the genetic architecture of SZ using neurocognitive and neurophysiological endophenotypes, for which heritability estimates ranged from 18% to 50% (mean = 30%). Th...

Journal: :Archives of general psychiatry 2011
Ikwunga Wonodi O Colin Stine Korrapati V Sathyasaikumar Rosalinda C Roberts Braxton D Mitchell L Elliot Hong Yasushi Kajii Gunvant K Thaker Robert Schwarcz

CONTEXT Kynurenic acid, a metabolite of the kynurenine pathway of tryptophan degradation, is an antagonist at N-methyl-d-aspartate and α7 nicotinic acetylcholine receptors and modulates glutamate, dopamine, and acetylcholine signaling. Cortical kynurenic acid concentrations are elevated in the brain and cerebrospinal fluid of schizophrenia patients. The proximal cause may be an impairment of ky...

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