Browse
Submit Data
Databases
API
Help

Unknown,Transcriptomics,Genomics,Proteomics

Dataset Information

13 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Small RNA-seq comparing transcriptome (small RNAs) of lymphoblastic cells from FAME patients and control individuals

ABSTRACT: RNAseq was performed for 10 individuals: three affected individuals (CSDN14, CSDN15, CSDN16) and one healthy spouse (CSDN17) from Family 1, three affected individuals (CSDN11, CSDN12, CSDN13) from Family 5 and three healthy controls (CSDN18, CSDN19, CSDN20).

INSTRUMENT(S): Illumina HiSeq 4000

ORGANISM(S): Homo sapiens

SUBMITTER: Plassard Damien

PROVIDER: E-MTAB-8300 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

ACCESS DATA

Json Xml

Similar Datasets

RNA-seq comparing transcriptome of lymphoblastic cells from FAME patients and control individuals

Project description:RNAseq was performed for 10 individuals: three affected individuals (CSDN4, CSDN5, CSDN6) and one healthy spouse (CSDN7) from Family 1, three affected individuals (CSDN1, CSDN2, CSDN3) from Family 5 and three healthy controls (CSDN8, CSDN9, CSDN10).

2019-09-16 | E-MTAB-8301 | biostudies-arrayexpress

Human Neuron Proteome Altered by Disrupted in schizophrenia 1 (DISC1) Mutations

Project description:Disrupted in schizophrenia 1 is a protein that is encoded by the DISC1 gene in humans. In coordination with a wide array of interacting partners, DISC1 has been shown to participate in the regulation of cell proliferation, differentiation, migration, neuronal axon and dendrite outgrowth, synapse formation and maturation, synaptic transmission, mitochondrial transport, fission and/or fusion, and cell-to-cell adhesion. Several studies have shown that unregulated expression or altered protein structure of DISC1 may predispose individuals to the development of schizophrenia, major depression, bipolar disorder, and other psychiatric conditions. The cellular functions that are disrupted by permutations in DISC1, which lead to the development of these disorders, have yet to be clearly defined and are the subject of current ongoing research.

2021-09-08 | PXD013391 | Pride

Defective mitochondrial translation due to loss of COX14 function triggers ROS-induced inflammation in liver

Project description:Mitochondrial oxidative phosphorylation (OXPHOS) fuels cellular ATP demands. OXPHOS defects lead to severe human disorders with unexplained tissue specific pathologies. Mitochondrial gene expression is essential for OXPHOS biogenesis since core subunits of the complexes are mitochondrial-encoded. COX14 is required for translation of COX1, the central mitochondrial-encoded subunit of complex IV. Here we generated a COX14 mouse mutant corresponding to a patient with complex IV deficiency. COX14M19I mice display broad tissue-specific pathologies. A hallmark phenotype is severe liver inflammation linked to release of mitochondrial RNA into the cytosol sensed by RIG-1 pathway. We find that mitochondrial RNA release is triggered by increased reactive oxygen species production in the absence of complex IV. Additionally, we also generated a COA3Y72C mouse, affected in COX1 biogenesis, which displays a similar yet milder inflammatory phenotype. Our study provides mechanistic insight into how defective mitochondrial gene expression causes tissue-specific inflammation.

2024-07-25 | PXD041783 | Pride

Deep sequencing of small RNAs from Mouse brain during aging

Project description:MicroRNAs (miRNAs) are endogenous small RNA molecules that regulate gene expression post-transcriptionally. Work in Caenorhabditis elegans has shown that specific miRNAs function in lifespan regulation and in a variety of age-associated pathways, but the roles of miRNAs in the aging of vertebrates are not well understood. We examined the expression of small RNAs in whole brains of young and old mice by deep sequencing and report here on the expression of 233 known miRNAs and identification of 41 novel miRNAs. Of these miRNAs, 75 known and 18 novel miRNAs exhibit greater than 2.0-fold expression changes. The majority of expressed miRNAs in our study decline in relative abundance in the aged brain, in agreement with trends observed in other miRNA studies in aging tissues and organisms. Target prediction analysis suggests that many of our novel aging-associated miRNAs target genes in the insulin signaling pathway, a central node of aging-associated genetic networks. These novel miRNAs may thereby regulate aging-related functions in the brain. Since mouse miRNAs are conserved in humans, the aging-affected brain miRNAs we report here may represent novel regulatory genes that function during aging in the human brain. 2 samples examined: Mouse brain from two young (5 months) and two old animals (24-25 months).

2012-05-31 | E-GEOD-34393 | biostudies-arrayexpress

Genome-wide copy number variation in Chinese schizophrenia trios

Project description:To reveal the risk CNVs of SZ in Chinese population, we recrited and enrolled 100 Chinese family trios with a schizophrenia affected children and both of their father and mother. SZ was diagnosed according to DSM-IV criteria by two independent psychiatrists. There gDNA we screen the genome-wide CNV using Agilent SurePrint G3 Human CGH Microarray Kit (1x1M) and Agilent sex-matched human DNA was used as reference. The CNV were called by ADM-2 statistical algorithms with a threshold of 6.0. We compared the burden of large rare CNVs and found that SZ probands carried more duplications and less deletions. Furtherly, we performed familial inheritance analysis of transmission disequilibrium and de novo CNV detection, validated several associated CNV loci with SZ susceptibility and also identify eight novel loci conferring risk of SZ

2021-10-01 | E-MTAB-8075 | biostudies-arrayexpress

Characterization of serum small extracellular vesicles and their small RNA contents across human, rat, and mouse

Project description:In the present study, the isolated serum exosomes from healthy adults, rats and mice were comparatively characterized; the small RNA compositions were analyzed; the serum exosome miRNA profiles and exosome depleted serum miRNA profiles were obtained by small RNAseq, and the distributions of miRNA component inside and outside of the serum exosomes were also compared.

2020-03-13 | E-MTAB-8376 | biostudies-arrayexpress

Characterization of serum small extracellular vesicles and their small RNA contents across human, rat, and mouse (data for rat and mouse)

Project description:In the present study, the isolated serum exosomes from healthy adults, rats, and mice were comparatively characterized; the small RNA compositions were analyzed; the serum exosome miRNA profiles and exosome depleted serum miRNA profiles were obtained by small RNAseq, and the distributions of miRNA component inside and outside of the serum exosomes were also compared.

2020-03-13 | E-MTAB-8377 | biostudies-arrayexpress

Mutant Huntingtin impairs neurodevelopment in human brain organoids through CHCHD2-mediated neurometabolic failure

Project description:Expansion of the poly-glutamine (Q) tract in the protein Huntingtin (HTT) causes the neurodegenerative disorder Huntington’s disease (HD). Emerging evidence suggests that mutant HTT (mHTT) disrupts brain development. To gain mechanistic insights into the neurodevelopmental impact of human mHTT, we engineered induced pluripotent stem cells to introduce a 70Q expansion or remove the poly-Q tract. mHTT introduction caused aberrant development of cerebral organoids with loss of neural progenitor organization. The early neurodevelopmental signature of mHTT highlighted the dysregulation of coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2), which is involved in mitochondrial integrated stress response. CHCHD2 repression was associated with abnormal mitochondrial morpho-dynamics and elevated resting energy expenditure. Elimination of the poly-Q tract reverted CHCHD2 expression and mitochondrial defects. Hence, mHTT-mediated disruption of human neurodevelopment is paralleled by aberrant neurometabolic programming mediated by dysregulation of CHCHD2, which could then represent a target of early intervention for HD.

2024-06-21 | PXD041846 | Pride

Single-cell transcriptomics reveals heterogeneous metabolic profiles in primary human hepatocytes

Project description:Through scRNA-sequencing of primary human hepatocytes (PHHs), we have identified four subgroups of hepatocytes. A phenotyping 5-probe cocktail (Sanofi-Aventis) has been used to assess their metabolic capacity. Upon cocktail treatment, the characterized four hepatocyte subgroups displayed differential gene expression profiles and exhibited xenobiotic metabolism-related specialization. Intracellular lipid accumulation achieved through loading the cells with free fatty acids (FFA, 2:1 oleic:palmitic acid), differently affected the four subgroups. Moreover, we have shown that intracellular fat accumulation diminishes the drug-related metabolic capacity of hepatocytes.

2023-09-19 | E-MTAB-11530 | biostudies-arrayexpress

Gene expression profiling of AOS Patient fibroblasts against Control fibroblasts

Project description:We described a striking divergence between the phenotypes arising from acute (siDOCK6) and chronic (DOCK6 KO cells) depletion is highly suggestive of a suppression mechanism that buffers the prolonged absence of DOCK6. This mechanism is probably also active in AOS patients who harbor homozygous loss-of-function mutations in DOCK6 because the actin organization patterns in their fibroblasts resemble those of DOCK6 KO cells (Shaheen et al., 2011). To identify the factor(s) that compensate for the lack of DOCK6 activity, we compared mRNA profiles of fibroblasts isolated from an AOS patient who harbored a homozygous 4 base pair deletion in the DOCK6 gene (c.1362_1365delAACT, p.Thr455Serfs*24; RefSeq accession number: NM_020812.2) with two healthy controls (Shaheen et al., 2011)

2016-09-29 | E-MTAB-5067 | biostudies-arrayexpress

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data