Project description:Identify the differential protein profile in serum and urine of MPS I patients using the TMT technique and verfied by PRM technique.
Project description:To investigate the gene expression in the regulation of neuron differentiation between healthy human control and MPS II. We then performed gene expression profiling analysis using mRNAs of 3 healthy human control iPSC- and 9 MPS II-iPSC-dervied 15 weeks neurons.
Project description:MicroRNA (miRNA) biomarkers for fragile X syndrome were searched by urine microRNA (miRNA) profiling using deep sequencing. The urine miRNA profile of twin boys who shared the same environment but one had a FXS full mutation and the other carried a premutation allele was compared based on the similar sequence reads. The urine of twin boys showed 28 differentiatially regulated miRNAs when 219 reliable identified miRNAs were compared.
Project description:Diagnosis of ovarian cancer at an early stage is the most important determinant of survival. Thus, there is a clear need for novel biomarkers to improve diagnostic and prognostics that may better inform on therapeutic strategies. We have conducted a discovery study using label-free quantitative mass spectrometry (LFQ) to identify potential biomarker candidates in urine from individual ovarian cancer patients. LFQ analyses identified 4394 proteins (16397 peptides) in urine samples (n=20), 23 of which were significantly elevated in the malignant patient group compared to patients with benign disease. To validate these changes, we used Parallel Reaction Monitoring (PRM) to investigate their abundance in an independent cohort (n=20) of patient urine samples. Seven of the ten proteins were significantly enriched in the ovarian cancer patient samples; amongst these were established ovarian cancer markers WFDC2 (HE4) and Mesothelin (MSLN), validating our approach. This is the first application of a LFQ-PRM workflow to identify and validate ovarian cancer-specific biomarkers in urine samples.