ID
45452
Beschrijving
Principal Investigator: Graziano Pesole, Prof, IBIOM-CNR and University of Bari, Bari, Italy MeSH: Amyotrophic Lateral Sclerosis,Motor Neuron Disease,Neurodegenerative Diseases https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000747 Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, is a fatal and devastating neurodegenerative disorder that causes the progressive death of upper and lower motor neurons. Although many efforts have been done to elucidate molecular factors involved in the onset and progression of the disorder, the causes of ALS are yet unknown and undefined. Transcriptome studies, based mostly on microarrays, have revealed multiple perturbations of the motor neuron function, supporting the current idea that several cellular events contribute to the pathobiology of the disease, including mitochondrial dysfunction, enhanced apoptosis, glutamate-mediated excitotoxicity, free radical injury, protein misfolding, abnormal calcium metabolism and altered axonal transport. In the present study, we have deeply sequenced the whole transcriptome of ventral horns of the human lumbar spinal cord from matched control and ALS post-mortem donors. Whole exome sequencing from the same donors has also been performed to exclude known genetic variants associated to the familiar form of ALS. In addition, to characterize the ALS transcriptome we have sequenced the RNA fraction at low molecular weight in the same tissues and individuals. Genomic and transcriptomic reads have been generated using the Illumina HiSeq2000 sequencer.
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Versies (1)
- 10-12-22 10-12-22 - Chiara Middel
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Graziano Pesole, Prof, IBIOM-CNR and University of Bari, Bari, Italy
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10 december 2022
DOI
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Creative Commons BY 4.0
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dbGaP phs000747 Whole Exome and Transcriptome Sequencing in Sporadic ALS
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent data table contains subject IDs, consent information, and affection status for sporadic ALS. Additionally, there are subject aliases, and links to each donor at the NICHD brain bank at the University of Maryland, Baltimore.
- The subject sample mapping data table contains mapping of study subject IDs to sample IDs. dbGaP samples are defined as the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample use.
- This subject phenotype table includes age, gender, race, diagnosis of participant, and post-mortem interval.
- This sample attributes table includes body site where sample was collected, analyte type, tumor status, histological type, sequencing type, and sequencing center.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent data table contains subject IDs, consent information, and affection status for sporadic ALS. Additionally, there are subject aliases, and links to each donor at the NICHD brain bank at the University of Maryland, Baltimore.
- The subject sample mapping data table contains mapping of study subject IDs to sample IDs. dbGaP samples are defined as the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample use.
- This subject phenotype table includes age, gender, race, diagnosis of participant, and post-mortem interval.
- This sample attributes table includes body site where sample was collected, analyte type, tumor status, histological type, sequencing type, and sequencing center.
C0680251 (UMLS CUI [1,2])
C0079399 (UMLS CUI [1,2])
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C0004398 (UMLS CUI [1,5])
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C0581621 (UMLS CUI [1,7])
C0002736 (UMLS CUI [1,8])
C0009932 (UMLS CUI [1,9])
C0681880 (UMLS CUI [2,1])
C0001779 (UMLS CUI [2,2])
C0681880 (UMLS CUI [3,1])
C0079399 (UMLS CUI [3,2])
C0086582 (UMLS CUI [3,3])
C0687676 (UMLS CUI [4,1])
C1306577 (UMLS CUI [4,2])
C1302413 (UMLS CUI [4,3])
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C0439092 (UMLS CUI [4,5])
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C0439227 (UMLS CUI [4,7])
C0034510 (UMLS CUI [5,1])
C0043157 (UMLS CUI [5,2])
C0002736 (UMLS CUI [6,1])
C1299222 (UMLS CUI [6,2])
C0009932 (UMLS CUI [7,1])
C1299222 (UMLS CUI [7,2])
C0079399 (UMLS CUI [1,2])
C0001779 (UMLS CUI [1,3])
C0681880 (UMLS CUI [1,4])
C0687676 (UMLS CUI [1,5])
C0004398 (UMLS CUI [1,6])
C0228590 (UMLS CUI [1,7])
C0581621 (UMLS CUI [1,8])
C0001779 (UMLS CUI [2,1])
C0079399 (UMLS CUI [3,1])
C0086582 (UMLS CUI [3,2])
C0687676 (UMLS CUI [4,1])
C1306577 (UMLS CUI [4,2])
C1302413 (UMLS CUI [4,3])
C0205421 (UMLS CUI [4,4])
C0439092 (UMLS CUI [4,5])
C0450337 (UMLS CUI [4,6])
C0439227 (UMLS CUI [4,7])
C0034510 (UMLS CUI [5,1])
C0043157 (UMLS CUI [5,2])
C0002736 (UMLS CUI [6,1])
C1299222 (UMLS CUI [6,2])
C0009932 (UMLS CUI [7,1])
C1299222 (UMLS CUI [7,2])