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GenomicSTAIR SLOS Longitudinal Study of Patients Receiving Cholesterol

Smith-Lemli-Opitz syndrome (SLOS) is a disorder of cholesterol production by the body. It is caused by changes in the DHCR7 gene, which is the blueprint for an enzyme called 7-dehydrocholesterol- delta7-reductase. This enzyme is necessary for the production of cholesterol by all cells in the body...

phs001430 | dbGaP
TranscriptomicsTranscription profiling of mouse skin carcinogenesis in FVB/N and Tg.Ac mice
Female FVB/N and Tg.Ac (hemizygotes) mice 3-5 weeks of age were purchased from Harlan UK and Taconic UK, respectively. The mice were contained in an isolator and maintained at 19C with 50% relative humidity and a 12-hour light-dark cycle. Following a 1 week acclimatisation period the dorsal skin o...
ORGANISM(S): Mus musculus 
2005-10-01 | E-MEXP-188 | biostudies-arrayexpress
UnknownA randomized controlled trial of Promoting Physical Activity in Regional and Remote Cancer Survivors (PPARCS).
Not available
S-EPMC10818110 | biostudies-literature
UnknownThe role of sterol-C4-methyl oxidase in epidermal biology.
Not available
S-EPMC3943829 | biostudies-literature
UnknownCombination of Small Extracellular Vesicle-Derived Annexin A2 Protein and mRNA as a Potential Predictive Biomarker for Chemotherapy Responsiveness in Aggressive Triple-Negative Breast Cancer.
Not available
S-EPMC9818227 | biostudies-literature
ProteomicsA T-cell receptor targeting RUNX1 frameshift mutations in acute myeloid leukemia
Runt-related transcription factor 1 (RUNX1) is a key regulator of hematopoietic differentiation. Disruption of RUNX1 in acute myeloid leukemia (AML) induces a maturation arrest and early myeloid progenitor phenotype. RUNX1 mutations occur in 10-15% of AML and are associated with poor prognosis. One-...
ORGANISM(S): Homo sapiens (Human) 
2025-07-31 | PXD062938 | Pride
Tcr-based immunotherapy Hla-peptidomics Runx1 Aml 
ProteomicsHotspot DNMT3A and IDH1/2 Mutations in Acute Myeloid Leukemia and Their Relevance as Targets for Immunotherapy
DNA methyltransferase 3A (DNMT3A) and isocitrate dehydrogenase 1 & 2 (IDH1/2) are genes involved in epigenetic regulation, each mutated in 7-23% of acute myeloid leukemia (AML). Here, we investigated whether hotspot mutations in these genes encode neoantigens that can be targeted by immunotherapy. F...
ORGANISM(S): Homo sapiens (Human) 
2024-06-23 | PXD050560 | Pride
Hotspot mutation Iso-citrate dehydrogenase 2 Dna methyltransferase 3a Cancer immunotherapy Acute myeloid leukemia Neoantigen T-cell therapy 
MetabolomicsNon-invasive urinary metabolomic profiling identifies diagnostic and prognostic markers in lung cancer
Lung cancer remains the most common cause of cancer deaths worldwide, yet there is currently a lack of diagnostic noninvasive biomarkers that could guide treatment decisions. Small molecules (<1500 Da) were measured in urine collected from 469 lung cancer patients and 536 population controls using u...
2014-05-06 | MTBLS28 | MetaboLights
UnknownIn vivo biodistribution and pharmacokinetics of sotrovimab, a SARS-CoV-2 monoclonal antibody, in healthy cynomolgus monkeys.
Not available
S-EPMC9614201 | biostudies-literature
UnknownAmerican Society of Clinical Oncology Statement: A Conceptual Framework to Assess the Value of Cancer Treatment Options.
Not available
S-EPMC5015427 | biostudies-literature
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