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TranscriptomicsMapping of the HUWE1 duplication at Xp11.22 in eight unrelated XLID patients
In a study to elucidate the genetic defects in patients with X-linked intellectual disability (XLID) we performed X chromosome-specific BAC-array-CGH and identified 0.33 to 1.0 Mb nonrecurrent copy number gains at Xp11.22 in affected males of unrelated XLID families. All aberrations segregate with t...
ORGANISM(S): Homo sapiens 
2012-09-03 | E-GEOD-32945 | biostudies-arrayexpress
UnknownSkeletal muscle repair in a mouse model of nemaline myopathy.
Not available
S-EPMC3372923 | biostudies-literature
ProteomicsTo decipher an overall structure of a bacterial anti-plasmid defense system using cross-linking mass spectrometry.
The submitted data is from a BS3 crosslinked sample. The anti-plasmid defense system complex constitutes JetA, JetB, JetC, and JetD subunits. In this work, these four subunits were mixed to form a holo-subunit complex which was followed by crosslinking with isotopically/non-isotopically (1:1) mixtur...
ORGANISM(S): Pseudomonas aeruginosa PA14 
2022-10-06 | PXD031096 | Pride
Bacterial anti-plasmid defense system Cross-linking mass spectrometry Jetabcd Condensin like machinery Toprim 
UnknownEncephalic meningioangiomatosis in a cat.
Not available
S-EPMC9446309 | biostudies-literature
GenomicsA somatic reference standard for cancer genome sequencing with COLO829
Identification of somatic alterations in cancer has become feasible with the massive adoption of next generation sequencing. However, due to variability in sequencing and informatics pipelines, a common somatic reference is needed. We thus performed paired whole genome sequencing of a metastatic mel...
EGAS00001001385 | EGA
TranscriptomicsGenome-wide consequences of compromised NMD and their relavence for variable clinical phenotype of patients with UPF3B mutations [RNA-seq]
Nonsense-mediated mRNA decay (NMD) surveillance pathways are best known to be involved in the degradation of mRNA with premature termination codons (PTCs). More recent studies demonstrate that the role of NMD pathways goes well beyond the degradation of PTC containing mRNA, into the regulation of ce...
ORGANISM(S): Homo sapiens 
2011-11-01 | E-GEOD-27199 | biostudies-arrayexpress
UnknownCost-effectiveness of urine-based tuberculosis screening in hospitalised patients with HIV in Africa: a microsimulation modelling study.
Not available
S-EPMC6370043 | biostudies-literature
TranscriptomicsGene expression analysis of primary human trabecular meshwork cells cultured in fibroblast medium following selective laser trabeculoplasty treatment
Primary human trabecular meshwork cells cultured in fibroblast medium underwent selective laser trabeculoplasty treatment. RNA was extracted from a pool of cells 30 min after treatment while the remaining cells were further cultured and RNA was extracted respectively 2 and 6 hour after treatment. Co...
ORGANISM(S): Homo sapiens 
2011-06-04 | E-GEOD-29697 | biostudies-arrayexpress
UnknownRetraining walking over ground in a powered exoskeleton after spinal cord injury: a prospective cohort study to examine functional gains and neuroplasticity.
Not available
S-EPMC6868817 | biostudies-literature
UnknownInvestigation of Fats, Oils, and Grease Co-digestion With Food Waste in Anaerobic Membrane Bioreactors and the Associated Microbial Community Using MinION Sequencing.
Not available
S-EPMC8072289 | biostudies-literature
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