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TranscriptomicsUtility of Baseline Transcriptomic Analysis of Rheumatoid Arthritis Synovium as an Indicator for Long-term Clinical Outcomes
Intent of this experiment is to define the baseline transcriptome of the synovium obtained from rheumatoid arthritis patients prior to initiation of DMARD (Disease-modifying antirheumatic drug) therapy and compare it with the synovial transcriptome of rheumatoid arthritis patients with an establishe...
ORGANISM(S): Homo sapiens 
2022-06-01 | E-MTAB-11274 | biostudies-arrayexpress
MetabolomicsGNPS - R_OM_Metapyo_32_CF_patients_HILIC_neg
idem R_OM_Metapyo_32_CF_patients_C18_pos we analyzed the metabolome content by untargeted HPLC/HRMS (see supplementary information). Isolates were first grown in synthetic CF medium 2 (SCFM2), a culture medium designed to mimick the nutritional conditions in CF pulmonary mucus (Turner et al. 2014). ...
ORGANISM(S): Pseudomonas Aeruginosa 
2020-01-10 | MSV000084791 | GNPS
MetabolomicsGNPS - R_OM_Metapyo_32_CF_patients_C18_pos
we analyzed the metabolome content by untargeted HPLC/HRMS (see supplementary information). Isolates were first grown in synthetic CF medium 2 (SCFM2), a culture medium designed to mimick the nutritional conditions in CF pulmonary mucus (Turner et al. 2014). Intracellular metabolic extracts of mid-l...
ORGANISM(S): Pseudomonas Aeruginosa (ncbitaxon:287) 
2020-01-10 | MSV000084790 | GNPS
UnknownResponse-adapted omission of radiotherapy and comparison of consolidation chemotherapy in children and adolescents with intermediate-stage and advanced-stage classical Hodgkin lymphoma (EuroNet-PHL-C1): a titration study with an open-label, embedded, multinational, non-inferiority, randomised controlled trial.
Not available
S-EPMC8716340 | biostudies-literature
UnknownStructural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.
Not available
S-EPMC5409128 | biostudies-literature
UnknownGermline Sequencing of DNA Damage Repair Genes in Two Hereditary Prostate Cancer Cohorts Reveals New Disease Risk-Associated Gene Variants.
Not available
S-EPMC11240467 | biostudies-literature
GenomicsGoT2D: Genetics of Type 2 Diabetes, a study of the the genetic architecture of type 2 diabetes using low pass whole genome sequencing and high density SNP genotyping in 2,657 individuals.
The Genetics of Type 2 Diabetes Consortium (GoT2D) is a collaboration between the University of Michigan, the Broad Institute and the Wellcome Trust Centre for Human Genetics. The overall aim is to extend upon recent efforts, such as genome-wide association studies (GWAS) and large scale meta-analys...
EGAS00001001459 | EGA
UnknownMutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.
Not available
S-EPMC2668031 | biostudies-literature
GenomicsGenome-Wide Analysis of Hypodiploid Acute Lymphoblastic Leukemia

Hypodiploid acute lymphoblastic leukemia (ALL) is an aggressive form of leukemia characterized by multiple whole chromosomal losses and very poor outcome. Here we report an integrative genomic analysis that identifies multiple subtypes of hypodiploid ALL characterized by variation in the degree o...

phs000341.v1.p1 | EGA
UnknownBiallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.
Not available
S-EPMC10506156 | biostudies-literature
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