Identification of ALS Associated Genes Using Whole Genome Sequencing
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ABSTRACT:
PROVIDER: PRJNA453835 | ENA |
REPOSITORIES: ENA
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Project description:Identification of ALS Associated Genes Using Whole Genome Sequencing
| PRJNA453834 | ENA
Project description:Identification of amyotrophic lateral sclerosis (ALS) associated genes. Post mortem spinal cord grey matter from sporadic and familial ALS patients compared with controls.
2007-09-26 | E-GEOD-833 | biostudies-arrayexpress
Project description:Microarray analysis has been applied to the study of ALS in order to investigate gene expression in whole spinal cord homogenates of SOD1 G93A mice and human ALS cases, although the massive presence of glial cells and inflammatory factors has made it difficult to define which gene expression changes were motor neuron specific. Recently, laser capture microdissection (LCM), combined with microarray analysis, has allowed the identification of motor neuron specific changes in gene expression in mouse and human ALS cases. The aim of the present study is to combine LCM and microarray analysis to compare the gene expression profiles of motor neurons from two SOD1G93A mouse strains (129Sv and C57) with different progression of the disease in order to discover the molecular mechanisms that may contribute to the distinct phenotypes and to uncover factors underlying fast and slow disease progression Motor neurons have been isolated from the spinal cord of 129SvG93A mice, C57G93A mice and non transgenic littermates at different time points and the transcription expression profile of the isolated motor neurons has been analysed
2013-10-01 | E-GEOD-46298 | biostudies-arrayexpress
Project description:Microarray analysis has been applied to the study of ALS in order to investigate gene expression in whole spinal cord homogenates of SOD1 G93A mice and human ALS cases, although the massive presence of glial cells and inflammatory factors has made it difficult to define which gene expression changes were motor neuron specific. Recently, laser capture microdissection (LCM), combined with microarray analysis, has allowed the identification of motor neuron specific changes in gene expression in mouse and human ALS cases. The aim of the present study is to combine LCM and microarray analysis to compare the gene expression profiles of motor neurons from two SOD1G93A mouse strains (129Sv and C57) with different progression of the disease in order to discover the molecular mechanisms that may contribute to the distinct phenotypes and to uncover factors underlying fast and slow disease progression
2013-10-01 | GSE46298 | GEO
Project description:Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease characterized by the deposition of mutated and misfolded proteins leading to the degradation of motor neurons and the motor cortex. Several ALS-associated proteins have been linked to small extracellular vesicles (EVs). However, the role of these EVs and their cargo in the early stages of ALS has not been investigated. This study aims to identify the earliest protein changes facilitated by EVs in ALS by examining the serum of newly diagnosed ALS patients. EVs were isolated from the serum of ALS (n = 15) and healthy control (HC, n = 15) patients, before undergoing mass spectrometry analysis resulting in the identification of a panel of proteins associated with the early changes of ALS. This panel consists of 9 statistically significantly up-regulated proteins and includes haptoglobin and hemoglobin subunits, complement, and afamin, which are involved in pathways including: heme homeostasis and autophagy. The identification of haptoglobin in the ALS serum EVs suggests it has potential as an early diagnostic biomarker whilst, activation of autophagy pathways suggests early recruitment of clearance pathways in ALS. Therefore, this study uncovers the processes and proteins being facilitated through small EVs in the initial stages of ALS.
2024-03-13 | PXD036652 | Pride
Project description:Increasing evidence suggests that defective RNA processing contributes to the development of amyotrophic lateral sclerosis (ALS). This may be especially true for ALS caused by a repeat expansion in C9orf72 (c9ALS), in which the accumulation of RNA foci and dipeptide-repeat proteins are expected to modify RNA metabolism. We report extensive alternative splicing (AS) and alternative polyadenylation (APA) defects in the cerebellum of c9ALS cases (8,224 AS, 1,437 APA), including changes in ALS-associated genes (e.g. ATXN2 and FUS), and cases of sporadic ALS (sALS; 2,229 AS, 716 APA). Furthermore, hnRNPH and other RNA-binding proteins are predicted as potential regulators of cassette exon AS events for both c9ALS and sALS. Co-expression and gene-association network analyses of gene expression and AS data revealed divergent pathways associated with c9ALS and sALS. Examination transcriptiome profiles in c9orf72-associated ALS, sporadic ALS and healthy control
2015-07-19 | E-GEOD-67196 | biostudies-arrayexpress
Project description:The non-coding genome is substantially larger than the protein-coding genome, but has been largely unexplored by genetic association studies. Here, we performed region-based rare-variant association analysis of >25,000 variants in untranslated regions of 6,139 amyotrophic lateral sclerosis (ALS) whole-genomes and those of 70,403 non-ALS controls. We identified Interleukin-18 Receptor Accessory Protein (IL18RAP) 3′UTR variants as significantly enriched in non-ALS genomes and associated with five-fold reduced risk of developing ALS, and this was replicated in an independent cohort. These variants in the IL18RAP 3′UTR reduce mRNA stability and the binding of double-stranded RNA-binding proteins. Finally, the variants of IL18RAP 3′UTR confer a survival advantage for motor neurons because they dampen neurotoxicity of human iPSC-derived microglia bearing an ALS-associated expansion in C9orf72, and this depends on NF-κB signaling. This study reveals genetic variants that protect against ALS by reducing neuroinflammation, and emphasizes the importance of non-coding genetic association studies.
2022-02-09 | GSE186757 | GEO
Project description:Identification of new and unpredicted full length Arabidopsis genes. Examination of cRNA prepared from Arabidopsis thaliana ecotype Columbia light grown 7-day old seedlings using whole genome tiling arrays. Keywords: other
2003-10-30 | GSE605 | GEO
Project description:RATIONALE: Identification of genes that may be associated with developing certain types of cancer may someday provide important information about a person’s risk of getting cancer.
PURPOSE: This clinical trial is studying to see if certain genes may be associated with cancer in patients with cancer of the breast, prostate, lung, or colon and siblings of these patients.
| 2002870 | ecrin-mdr-crc