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Transcriptomics5'RNA-seq analysis of hypertrophic cardiomyopathy (HCM) in mice that carry a human missence mutation in the myosin heavy chain
We developed a 5'RNA-seq methodology to concurrently assess gene expression and start-site usage changes. We applied this methodology to study hypertrophic cardiomyopathy in mice harboring a human deleterious mutation. 5'RNA-seq analysis of transcriptomes from mouse hearts with or without hypertroph...
ORGANISM(S): Mus musculus 
2013-11-05 | E-GEOD-52038 | biostudies-arrayexpress
ProteomicsSplice-Switching Oligonucleotide-mediated Correction of a Deep Intronic Splice-variant in TIMMDC1 in Cells of Patients with Severe Early Onset Neurodegenerative Disorder.
TIMMDC1 encodes the Translocase of Inner Mitochondrial Membrane Domain-Containing protein 1 (TIMMDC1) subunit of complex I of the electron transport chain responsible for ATP production. We studied a consanguineous family with two affected children, now deceased, who presented with failure to thrive...
ORGANISM(S): Homo sapiens (Human) 
2022-02-17 | PXD029707 | Pride
Human Sso Dia Mitochondrial disease Timmdc1 
GenomicsBisulfite Sequencing Reveals that Aspergillus flavus Holds A Hollow in DNA Methylation
Aspergillus flavus first gained scientific attention for its production of aflatoxin, the most potent naturally occurring toxin and hepatocarcinogenic secondary metabolite. For several decades, The DNA methylation status of A. flavus remains to be controversial. We first applied bisulfite sequencing...
ORGANISM(S): Aspergillus flavus 
2012-03-01 | E-GEOD-32177 | biostudies-arrayexpress
MetabolomicsAlterations in the oral microbiome and metabolome of methamphetamine addicts

BACKGROUND: Drug addiction can seriously damage human physical and mental health, while detoxification is a long and difficult process. Although studies have reported changes in the oral microbiome of methamphetamine (METH) addicts, the role of the microbiome plays in this proces...

2023-07-24 | MTBLS7807 | MetaboLights
MetabolomicsMulti-omics association analysis reveals interactions between the oropharyngeal microbiome and the metabolome in pediatric patients with influenza A virus pneumonia.
Children are at high risk for influenza A virus (IAV) infections, which can develop into severe illnesses. However, little is known about interactions between the microbiome and respiratory tract metabolites and their impact on the development of IAV pneumonia in children. Using a combination of liq...
2024-09-25 | MTBLS4816 | MetaboLights
UnknownBi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability.
Not available
S-EPMC9648057 | biostudies-literature
TranscriptomicsTranscriptional signature of wounded keratinocytes reveals selective roles for ERK1/2, P38 and PI3K signalling pathways
Covering denuded dermal surface after injury requires migration, proliferation and differentiation of skin keratinocytes. To clarify the major traits controlling these intermingled biological events, we surveyed the genomic modifications occurring during the course of a scratch closure of cultured h...
ORGANISM(S): Homo sapiens 
2010-05-27 | E-GEOD-6820 | biostudies-arrayexpress
UnknownSequencing of 640,000 exomes identifies <i>GPR75</i> variants associated with protection from obesity.
Not available
S-EPMC10275396 | biostudies-literature
TranscriptomicsTranscriptome Profiling and Sequencing of differentiated Human Hematopoietic Stem cells Reveal Lineage Specific Expression and Alternative Splicing of Genes
Hematopoietic differentiation is strictly regulated by complex network of transcription factors that are controlled by ligands binding to cell surface receptors. Disruptions of the intricate sequences of transcriptional activation and suppression of multiple genes cause hematological diseases, such...
ORGANISM(S): Homo sapiens 
2011-11-22 | E-GEOD-29989 | biostudies-arrayexpress
UnknownGenome Sequencing for Diagnosing Rare Diseases.
Not available
S-EPMC11350637 | biostudies-literature
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