Dataset's files
| Action | DRS | |||
|---|---|---|---|---|
| SRR23875740_1.fastq.gz | Fastqsanger.gz | |||
| SRR23875740_2.fastq.gz | Fastqsanger.gz | |||
| SRR23875741_1.fastq.gz | Fastqsanger.gz | |||
| SRR23875741_2.fastq.gz | Fastqsanger.gz |
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Project description:EMT gene expression profile in Sjögren’s syndrome patients were determined by microarray analysis performed by Arraystar Inc. (Rockville, MD) using LncPath™ Human EMT Pathway Microarray (Cat# AS-LP-004H). N=219 potential coding targets related to the EMT signaling pathway were tested.
2021-07-29 | GSE175709 | GEO
Project description:The aim of this work was to characterize proteome of aqueous humor from subjects with various eye conditions such as cataract, glaucoma and pseudoexfoliation syndrome by high-resolution chromate-mass-spectrometry. Twenty nine human aqueous humor samples were processed by shotgun proteomics. Data was searched using MaxQuant package. Totally, 263 protein groups were identified. Label-free quantitation reported some differentially expressed proteins in aqueous humor proteome for the aforementioned eye diseases.
2016-05-23 | PXD002623 | Pride
Project description:The aim of this work was to characterize proteome of aqueous humor from subjects with various eye conditions such as cataract, glaucoma and pseudoexfoliation syndrome by high-resolution chromate-mass-spectrometry. Twenty nine human aqueous humor samples were processed by shotgun proteomics. Data was searched using MaxQuant package. Totally, 263 protein groups were identified. Label-free quantitation reported some differentially expressed proteins in aqueous humor proteome for the aforementioned eye diseases.
2017-03-31 | MSV000080838 | MassIVE
Project description:Fetal gastrointestinal tract obstructions (GITO) is the most frequently encountered gastrointestinal defects in prenatal. This study aimed to investigate the genetic disorders and pregnancy outcomes of fetal GITO. We reviewed data from 70 pregnancies who were referred for invasive prenatal testing due to fetal GITO. According to the levels of obstruction, they were classified into esophageal atresia/stenosis, duodenal atresia/stenosis, jejunal or ileal atresia/stenosis, and anal atresia. Traditional karyotyping was performed on all 70 pregnancies, and chromosomal microarray analysis (CMA) was performed on 32 of them in parallel. Traditional karyotyping revealed twelve (17.1%) chromosomal abnormalities, including 11 cases of trisomy 21 (Down syndrome), and one case of a supernumerary marker chromosome related to Cat Eye Syndrome. According to the absence or presence of other ultrasound anomalies, they were categorized into isolated GITO (n = 36) and non-isolated GITO (n = 34). The rate of chromosomal abnormalities in non-isolated GITO pregnancies was significantly higher than that in isolated GITO pregnancies (29.4% vs. 5.5%, p < 0.05); the survival rate in isolated group was significantly higher than that in non-isolated group (67.6% vs. 34.4%, p<0.05). Among the 32 cases where CMA was performed, additional one (3.1%) copy number variants with clinical significance was noted in a fetus with normal karyotype. The microduplication on 7q12 was consider to be the genetic etiologies of duodenal stenosis, although it was inherited from a phenotypically normal mother. Our study supports the strong association between Down syndrome and fetal GITO, especially duodenal stenosis. Our findings suggested that the risk of chromosomal abnormalities increased when GITO was accompanied by other ultrasound anomalies, thus chromosomal abnormalities and fetal anatomy should be carefully evaluated for pregnancy management of fetal GITO.
2022-07-07 | GSE203126 | GEO
Project description:Sjogren's syndrome (SS) dry eye is a chronic autoimmune eyedisease driven by T helper 17 (Th17)cells. S100A8/A9 has emerged as an important proinflammatory alarmin in variousautoimmune and inflammatory diseases. However, the role of S100A8/A9 in the pathogenesis of SS dry eye remains unexplored. Here,we show that the expression levels of S100A8/A9 were elevated in peripheral blood mononuclear cells (PBMCs) of patients with SS dry eye, as well as the lacrimal glands (LGs) of SS dry eye mice. The administration of paquinimod, a specific inhibitor of S100A8/A9, could alleviate the progression of SS dry eye with significant reduction of Th17 cell frequency in LGs, spleen and lymph nodes of SS dry eye mice.Further experiment revealed that S100A8/A9 did not directly affect Th17 generation and function, but upregulated the expression of MHCIl andI123a in DCs to augment Th17 cell response through a Acod1/STAT3-dependent signaling pathway in the context of SS dry eye. Together,these findings unveiled the key role of S100A8/A9 in the pathogenesis of SS dry eye and suggested a potential therapeutic avenue for SS dry eyeand otherTh7 cell-related autoimmune disorders.
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Project description:Oculo-facio-cardio-dental syndrome (OFCD) is a rare genetic disorder characterized by teeth with extremely long roots (radiculomegaly), and craniofacial, eye and cardiac abnormalities. The mutation of the transcriptional co-repressor BCOR has been identified as being responsible for oculo-facio-cardio-dental (OFCD) syndrome. Mesenchymal stem cells (MSCs) is isolated from the root apical papilla of an OFCD patient. Gene expression profiling is performed and compared between mutant MSCs and wild type MSCs. Total RNA were extracted from normal MSCs (MSCWT) and mutant MSCs (MSCO).
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Project description: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. Control cells stored in incubator in absence of SLT treatment were used as reference samples. Gene expression was evaluated by hybridization on miRNA-microarray and laser scanner analysis. Time course experiment; HTM cells, ScienCell, San Diego, California: cat. n. 6590: isolated from juxtacanalicular and corneoscleral region of the human eye. TMC are cryopreserved on primary culture and delivered frozen.
2011-06-04 | E-GEOD-29697 | biostudies-arrayexpress
Project description:Oculo-facio-cardio-dental syndrome (OFCD) is a rare genetic disorder characterized by teeth with extremely long roots (radiculomegaly), and craniofacial, eye and cardiac abnormalities. The mutation of the transcriptional co-repressor BCOR has been identified as being responsible for oculo-facio-cardio-dental (OFCD) syndrome. Mesenchymal stem cells (MSCs) is isolated from the root apical papilla of an OFCD patient. Gene expression profiling is performed and compared between mutant MSCs and wild type MSCs.
2009-07-23 | GSE15214 | GEO
Project description:Multiple human autism risk genes are predicted to converge on the β‐catenin (β‐cat)/Wnt pathway. However, direct tests to link β‐cat up‐ or down‐regulation with autism are largely lacking, and the associated pathophysiological changes are poorly defined. Here we identify excessive β‐cat as a risk factor that causes expression changes in several genes relevant to human autism. Our studies utilize mouse lines with β‐cat dysregulation in forebrain excitatory neurons, identified as cell types with convergent expression of autism‐linked genes in both human and mouse brains. We show that mice expressing excessive β‐cat display behavioral and molecular changes, including decreased social interest, increased repetitive behaviors, reduced parvalbumin and altered expression levels of additional genes identified as potential risk factors for human autism. These behavioral and molecular phenotypes are averted by reducing β‐cat in neurons predisposed by gene mutations to express elevated β‐cat. Using next-generation sequencing of the prefrontal cortex, we identify dysregulated genes that are shared between mouse lines with excessive β‐cat and autism‐like behaviors, but not mouse lines with reduced β‐cat and normal social behavior. Our findings provide critical new insights into β‐cat, Wnt pathway dysregulation in the brain causing behavioral phenotypes relevant to the disease and the molecular etiology which includes several human autism risk genes.
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