Similar Datasets
Project description:827 human miRNA standard human panel Plasma derived extracellular vesicles (EV)/exosomes can serve as markers of cell damage/disease but can also have therapeutic utility depending on the nature of their cargo, such as miRNA. Currently there are challenges and lack of innovations regarding early diagnosis and therapeutic options within different aspects of management of patients suffering from chronic pancreatitis (CP). Use of exosomes as biomarkers for pancreatic health, and/or or as adjuvant therapy would make a difference in management of these patients. To explore the feasibility of this approach, we characterized the miRNA cargo of exosomes purified from CP patients, and compared it to those from healthy participants. Methods: EVs were isolated from plasma of 15 CP patients and 10 healthy controls. Nanoparticle Tracking Analysis was used to determine frequency and size while NanoString technology was used to characterize the miRNA cargo. Relevant clinical parameters were correlated with these EV/exosome characteristics. Results: ~30 miRNA species were identified to have significantly (p<0.05) different expression in exosomes from individuals with CP compared to healthy individuals; ~40 miRNA were differentially expressed in exosomes from pre-diabetic versus non-diabetic CP patients. miR-579-3p, while exhibiting significantly lower (~16-fold) expression in exosomes from CP compared to healthy individuals and lower (~24-fold) in CP narcotic users compared to the less severe CP in non-users, is actually enriched (~32-fold) within exosomes in pre-diabetic CP patients compared to non-diabetic CP patients. A unique pattern was identified in female CP patients. Conclusions: These first of a kind data support the prospect of using a bioinformatics approach to assess pancreatic health, and their therapeutic potential in CP patients.
2021-04-29 | GSE173514 | GEO
Project description:The identification of the genetic risk factors in patients with isolated cleft palate by whole genome sequencing analysis. Pathogenic or likely pathogenic variants were discovered in genes associated with CP (TBX22, COL2A1, FBN1, PCGF2, and KMT2D) in five patients; hence, rare disease variants were identified in 17% of patients with non-syndromic isolated CP. Our results are relevant to routine genetic counselling practice and genetic testing recommendations.
2022-03-30 | E-MTAB-11360 | biostudies-arrayexpress
Project description:Detailed exploration was performed on the T cell and B cell transcriptional profiles when comparing moderate and severe patients to healthy donors, identifying candidate gene signatures. Furthermore, we analyzed the properties of cytotoxicity and exhaustion within T cell subgroups derived from CRKP samples.
2025-07-03 | GSE263380 | GEO
Project description:Cerebral palsy (CP) is a spectrum of non-progressive motor disorders caused by brain injury during fetal or postnatal periods. Current diagnosis of CP mainly relies on neuroimaging and motor assessment, and we aimed to explore novel biomarkers for CP diagnosis in the present study. Blood plasma from five CP children and their healthy twin brothers/sisters was analyzed by gene microarray to screen out differential expressed circular RNAs (circRNAs).
2021-09-01 | GSE183021 | GEO
Project description:Cerebral palsy (CP) represents a group of non-progressive clinically heterogeneous disorders that are characterized by motor impairment and early age-of-onset, frequently accompanied by co-morbidities. The cause of CP has historically been attributed to environmental stressors resulting in brain damage. While genetic risk factors are also implicated, guidelines for diagnostic assessment of CP do not recommend for routine genetic testing. Given numerous reports of etiologic copy number variations (CNVs) in other neurodevelopmental disorders, we used microarrays to genotype a population-based prospective cohort of children with CP and their parents. Here we identify de novo CNVs in 8/115 (7.0%) CP patients (~1% rate in controls). In four children, large chromosomal abnormalities deemed pathogenic were found, and they were significantly more likely to have severe neuro-motor impairments than those CP subjects without such alterations. Overall the CNV data would have impacted our diagnosis or classification of CP in 11/115 (9.6%) families. Dr. Maryam Oskoui* , Mr. Matthew Gazzellone* , Ms. Bhooma Thiruvahindrapuram , Dr. Mehdi Zarrei , Dr. John Andersen , Dr. John Wei , Dr. Zhouzhi Wang , Dr. Richard Wintle , Dr. Christian Marshall , Dr. Ronald Cohn , Dr. Rosanna Weksberg , Dr. James Stavropoulos , Dr. Darcy Fehlings , Dr. Michael Shevell, Dr. Stephen Scherer. Clinically Relevant Copy Number Variations Detected in Cerebral Palsy. Nature Communications, 2015.
2015-07-28 | GSE70374 | GEO
Project description:Excessive Hedgehog (Hh) signaling activity contributes to fibrosis in multiple organs, however, its role in pancreatic stellate cell (PSC) activation and fibrosis development during chronic pancreatitis (CP) remains unclear. We demonstrate that GLI2 is upregulated in activated PSCs from CP patients and animal models. Specific deletion of Gli2, but not Smo, significantly alleviated fibrosis in CP models, indicating that CP is driven by non-canonical Hh signaling. Experiments on culture-activated primary PSCs reveal early nuclear translocation and increased GLI2 expression promptly after in vitro culture, with GLI2 being essential for PSC activation. SMO inhibition only reduces GLI2 activation in the short term, while activation of GLI2 by TGF-β/SMAD3 signaling explains the SMO-independent mechanisms leading to Hh activation in PSCs. Altogether, our data demonstrate the activation of the non-canonical Hh pathway in PSCs and indicate that GLI2 represents a promising therapeutic target for CP.
2024-11-13 | GSE281427 | GEO