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MetabolomicsLipin1 deficiency causes sarcoplasmic reticulum stress and chaperone-responsive myopathy
As a consequence of impaired glucose or fatty acid metabolism, bioenergetic stress in skeletal muscles may trigger myopathy and rhabdomyolysis. Genetic mutations causing loss of function of the LPIN1 gene frequently lead to severe rhabdomyolysis bouts in children, though the metabolic alterations an...
2019-01-07 | MTBLS750 | MetaboLights
TranscriptomicsNF1 microdeletions characterization by custom high-resolution array CGH
To allow accute charaterization of NF1 locus constitutional microdeletion in 70 NF1 patients, a custom array CGH was developped. Goal was to obtain genomic rearrangements fine characterization in order to perform genotype-phenotype correlation in NF1 microdeleted patients. To serve as a reference g...
ORGANISM(S): Homo sapiens 
2010-05-26 | E-GEOD-19730 | biostudies-arrayexpress
UnknownNivolumab in Patients With Relapsed or Refractory Hematologic Malignancy: Preliminary Results of a Phase Ib Study.
Not available
S-EPMC5019749 | biostudies-literature
GenomicsDifferential Peak Calling of ChIP-Seq Signals with Replicates with THOR
Dendritic cells (DC) are professional antigen presenting cells that develop from hematopoietic stem cells in bone marrow by successive steps of lineage commitment and differentiation. Different DC subsets were identified based on phenotype, localisation and function: (i) classical DC (cDC) and plasm...
ORGANISM(S): Mus musculus 
2016-08-03 | E-GEOD-73143 | biostudies-arrayexpress
UnknownSafety, Antitumor Activity, and Immune Activation of Pegylated Recombinant Human Interleukin-10 (AM0010) in Patients With Advanced Solid Tumors.
Not available
S-EPMC5657013 | biostudies-literature
TranscriptomicsIsoform-specific transcriptional activity of overlapping targets that respond to thyroid hormone receptors a1 and b1
Thyroid hormone receptors (TRs) are hormone-regulated transcription factors that control multiple aspects of physiology and development. TRs are expressed in vertebrates as a series of distinct isoforms that exert distinct biological roles. We wished to determine if the two most widely expressed i...
ORGANISM(S): Homo sapiens 
2009-08-08 | E-GEOD-17561 | biostudies-arrayexpress
UnknownPDL1 Regulation by p53 via miR-34.
Not available
S-EPMC4862407 | biostudies-literature
TranscriptomicsTest dataset for countASAP package: a lightweight easy to use Python package for processing ASAPseq data
A recently developed technique, transposase-accessible chromatin with sequencing (ATAC) with select antigen profiling by sequencing (ASAPseq), provides a combination of chromatin accessibility assessments with measurements of cell- surface marker expression levels. While software exists for the char...
ORGANISM(S): Mus musculus 
2025-10-24 | E-MTAB-15786 | biostudies-arrayexpress
TranscriptomicsMutant thyroid hormone receptors (TRs) isolated from distinct cancer types display distinct target gene specificities: a unique regulatory repertoire associated with renal clear cell carcinomas.
Thyroid hormone receptors (TRs) are hormone-regulated transcription factors that regulate a diverse array of biological activities, including metabolism, homeostasis, and development. TRs also serve as tumor suppressors, and aberrant TR function (via mutation, deletion, or altered expression) is as...
ORGANISM(S): Homo sapiens 
2011-05-10 | E-GEOD-29159 | biostudies-arrayexpress
TranscriptomicsThe bile acid CoA ligase, FATP5, is necessary for NAT synthesis in the liver
This study aimed to investigate the overlap between hepatic NAT and the bile acid synthesis to identify additional enzymes involved in NAT synthesis in the liver. We sequenced livers high-fat fed mice the were either wild-type or with a single-amino acid substitution in fatty acid amide hydrolase (F...
ORGANISM(S): Mus musculus 
2026-03-02 | E-MTAB-15752 | biostudies-arrayexpress
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