137 research outputs found
Supplement1 - Hepatic Transcriptomic Patterns in the Neonatal Rat After Pentabromodiphenyl Ether Exposure
No full textSupplement1 for Hepatic Transcriptomic Patterns in the Neonatal Rat After Pentabromodiphenyl Ether Exposure by June K. Dunnick, Keith R. Shockley, Daniel L. Morgan, Gregory S. Travlos, Kevin Gerrish, Thai-Vu T. Ton, Ralph Wilson, Sukhdev S. Brar, Amy E Brix, Suramya Waidyanatha, Esra Mutlu and Arun Kumar R. Pandiri in Toxicologic Pathology</p
Supplement2 - Hepatic Transcriptomic Patterns in the Neonatal Rat After Pentabromodiphenyl Ether Exposure
No full textSupplement2 for Hepatic Transcriptomic Patterns in the Neonatal Rat After Pentabromodiphenyl Ether Exposure by June K. Dunnick, Keith R. Shockley, Daniel L. Morgan, Gregory S. Travlos, Kevin Gerrish, Thai-Vu T. Ton, Ralph Wilson, Sukhdev S. Brar, Amy E Brix, Suramya Waidyanatha, Esra Mutlu and Arun Kumar R. Pandiri in Toxicologic Pathology</p
Supplement_4 - Hepatic Transcriptomic Patterns in the Neonatal Rat After Pentabromodiphenyl Ether Exposure
No full textSupplement_4 for Hepatic Transcriptomic Patterns in the Neonatal Rat After Pentabromodiphenyl Ether Exposure by June K. Dunnick, Keith R. Shockley, Daniel L. Morgan, Gregory S. Travlos, Kevin Gerrish, Thai-Vu T. Ton, Ralph Wilson, Sukhdev S. Brar, Amy E Brix, Suramya Waidyanatha, Esra Mutlu and Arun Kumar R. Pandiri in Toxicologic Pathology</p
Supplement_3 - Hepatic Transcriptomic Patterns in the Neonatal Rat After Pentabromodiphenyl Ether Exposure
No full textSupplement_3 for Hepatic Transcriptomic Patterns in the Neonatal Rat After Pentabromodiphenyl Ether Exposure by June K. Dunnick, Keith R. Shockley, Daniel L. Morgan, Gregory S. Travlos, Kevin Gerrish, Thai-Vu T. Ton, Ralph Wilson, Sukhdev S. Brar, Amy E Brix, Suramya Waidyanatha, Esra Mutlu and Arun Kumar R. Pandiri in Toxicologic Pathology</p
Analysis of dysbindin interacting genes in the pathogenesis of schizophrenia
No full textDysbindin (dystrobrevin-binding protein 1 DTNBP1) has been implicated as a schizophrenia candidate gene. However while numerous positive associations have been reported, no non-synonymous alleles have been found which account for the association. A number of recent studies suggest that altered dysbindin expression may be the mechanism by which DTNBP1 variants confer susceptibility to schizophrenia. Therefore one objective of this study was to identify putative DTNBP1 cis-acting variants and perform association analyses of these variants with schizophrenia and allelic expression differences observed at the DTNBP1 locus. While four variants were associated with schizophrenia, logistic regression suggested that the signal observed at these polymorphisms was not independent of the most associated SNP rs4715984. Comparison with the results of a DTNBP1 allelic expression assay revealed that seven SNPs were associated with differential expression. Post hoc analysis revealed that the majority of the expression differences were accounted for by variation at two loci (rs2619538 and rsl3198512), one of which (rsl3198512) was subsequently shown to directly affect transcription in vitro using a luciferase reporter gene assay. As rs4715984 was not correlated with allelic expression differences it implies that a reduction in dysbindin expression through cis-acting variation may not be the primary aetiological factor in schizophrenia pathogenesis. This was supported by further analysis of a schizophrenia risk haplotype previously reported to be associated with differential expression as the refined haplotype was no longer correlated. A second objective of this thesis was to investigate the hypothesis that DTNBP1 could cause susceptibility to schizophrenia through its role within the BLOC-1 complex. Association analysis was performed on BLOC-1 genes which displayed evidence of being under the influence of cis-acting regulation. MUTED, a BLOC-1 gene previously reported as associated to schizophrenia was also investigated. However association results provided no compelling support for the hypothesis that DTNBP1 contributes to susceptibility to schizophrenia through the BLOC-1 complex.EThOS - Electronic Theses Online ServiceGBUnited Kingdo
Analysis of dysbindin interacting genes in the pathogenesis of schizophrenia
No full textDysbindin (dystrobrevin-binding protein 1 DTNBP1) has been implicated as a schizophrenia candidate gene. However while numerous positive associations have been reported, no non-synonymous alleles have been found which account for the association. A number of recent studies suggest that altered dysbindin expression may be the mechanism by which DTNBP1 variants confer susceptibility to schizophrenia. Therefore one objective of this study was to identify putative DTNBP1 cis-acting variants and perform association analyses of these variants with schizophrenia and allelic expression differences observed at the DTNBP1 locus. While four variants were associated with schizophrenia, logistic regression suggested that the signal observed at these polymorphisms was not independent of the most associated SNP rs4715984. Comparison with the results of a DTNBP1 allelic expression assay revealed that seven SNPs were associated with differential expression. Post hoc analysis revealed that the majority of the expression differences were accounted for by variation at two loci (rs2619538 and rsl3198512), one of which (rsl3198512) was subsequently shown to directly affect transcription in vitro using a luciferase reporter gene assay. As rs4715984 was not correlated with allelic expression differences it implies that a reduction in dysbindin expression through cis-acting variation may not be the primary aetiological factor in schizophrenia pathogenesis. This was supported by further analysis of a schizophrenia risk haplotype previously reported to be associated with differential expression as the refined haplotype was no longer correlated. A second objective of this thesis was to investigate the hypothesis that DTNBP1 could cause susceptibility to schizophrenia through its role within the BLOC-1 complex. Association analysis was performed on BLOC-1 genes which displayed evidence of being under the influence of cis-acting regulation. MUTED, a BLOC-1 gene previously reported as associated to schizophrenia was also investigated. However association results provided no compelling support for the hypothesis that DTNBP1 contributes to susceptibility to schizophrenia through the BLOC-1 complex
A Writer for a Shrinking World: Cultural Identity Formation and Globalization in the Novels of Kopano Matlwa
No full textThis paper analyzes the novels of author Kopano Matlwa in relation to issues in cultural identity formation during the current period of rapid globalization within the author\u27s home nation of South Africa
S1‐01‐01: Finding new susceptibility genes for Alzheimer's disease: The GERAD consortium
No full text
(CUGBP, elav‐like family member 1 gene) locus is genome‐wide associated with Alzheimer's disease and obesity
No full textDeviations from normal body weight are observed prior to and after the onset of Alzheimer's disease (AD). Midlife obesity confers increased AD risk in later life, whereas late-life obesity is associated with decreased AD risk. The role of underweight and weight loss for AD risk is controversial. Based on the hypothesis of shared genetic variants for both obesity and AD, we analyzed the variants identified for AD or obesity from genome-wide association meta-analyses of the GERAD (AD, cases = 6,688, controls = 13,685) and GIANT (body mass index [BMI] as measure of obesity, n = 123,865) consortia. Our cross-disorder analysis of genome-wide significant 39 obesity SNPs and 23 AD SNPs in these two large data sets revealed that: (1) The AD SNP rs10838725 (pAD = 1.1 × 10(-08)) at the locus CELF1 is also genome-wide significant for obesity (pBMI = 7.35 × 10(-09) ). (2) Four additional AD risk SNPs were nominally associated with obesity (rs17125944 at FERMT2, pBMI = 4.03 × 10(-05), pBMI corr = 2.50 × 10(-03) ; rs3851179 at PICALM; pBMI = 0.002, rs2075650 at TOMM40/APOE, pBMI = 0.024, rs3865444 at CD33, pBMI = 0.024). (3) SNPs at two of the obesity risk loci (rs4836133 downstream of ZNF608; pAD = 0.002 and at rs713586 downstream of RBJ/DNAJC27; pAD = 0.018) were nominally associated with AD risk. Additionally, among the SNPs used for confirmation in both studies the AD risk allele of rs1858973, with an AD association just below genome-wide significance (pAD = 7.20 × 10(-07)), was also associated with obesity (SNP at IQCK/GPRC5B; pBMI = 5.21 × 10(-06) ; pcorr = 3.24 × 10(-04)). Our first GWAS based cross-disorder analysis for AD and obesity suggests that rs10838725 at the locus CELF1 might be relevant for both disorders
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