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7,327
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Dataset results
7,327 results for “Pathway”
Next generation sequencing identifies WNT signalling as a significant pathway in Autosomal Recessive Polycystic Kidney Disease (ARPKD) manifestation and may be linked to disease severity
<p><em>Background: </em>Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a rare paediatric disease primarily caused by mutations in <em>PKHD1</em>. ARPKD presents with considerable clinical variability relating to the type of <em>PKHD1 </em>mutation, but not its position. Animal models of Polycystic Kidney Disease (PKD) suggest that there is a complex genetic landscape, with genetic modifiers as a potential cause of disease variability.</p> <p><em>Methods: </em>To assess this relationship, a Whole Exome Sequencing (WES) and RNA-Sequencing (RNA-Seq) approach was employed on human ARPKD kidneys and age-matched healthy controls, to investigate in an unbiased manner the molecular mechanisms of ARPKD and identify potential markers of disease severity.</p> <p><em>Results: </em>WES confirmed the clinical diagnosis of ARPKD in our patient cohort. Mutation type, nor position of <em>PKHD1 </em>mutations, were linked to disease severity. Mutations in genes associated with other ciliopathies were detected in the ARPKD cohort, but only <em>PKD1</em> could be linked to disease severity. Transcriptomic analysis identified a significant number of genes relating to WNT signalling, cellular metabolism and development. Amongst these genes, increased expression of WNT signalling-related genes was validated by RT-qPCR. In addition, two individuals in our cohort had the same <em>PKHD1</em> mutations but different rates of kidney disease progression. Amongst the transcriptomic differences of these two individuals were differences in the expression of WNT signalling genes.</p> <p><em>Conclusion: </em>ARPKD kidney transcriptomics highlights changes in WNT signalling as potentially significant in ARPKD manifestation and severity and could provide a future therapeutic target for slowing down the progression of ARPKD.</p>
Expanded Access for ABI-009 in Patients With Advanced PEComa and Patients With a Malignancy With Relevant Genetic Mutations or mTOR Pathway Activation
ClinicalTrials.gov study NCT03817515. IPD Sharing: Not stated. Countries: 0. Publications: 0.
Distinct immunomodulatory pathways mediate radiotherapy response in malignant peripheral nerve sheath tumors [scRNA-Seq]
GEO Series GSE289110. Mus musculus. 7 samples. Type: Expression profiling by high throughput sequencing.
RNA sequencing reveals the key genes and pathways in a mouse model of heart failure with preserved ejection fraction
GEO Series GSE180065. Mus musculus. 15 samples. Type: Expression profiling by high throughput sequencing.
Gene expression analysis of lymphoblast cells in patients with genetic defects in comparison with normal control samples: Profile and characterization of gene pathway expression
GEO Series GSE53756. Homo sapiens. 10 samples. Type: Expression profiling by array.
LIM homeobox-2 suppresses hallmarks of adult and pediatric liver cancers by controlling MAPK/ERK and Wnt/beta-catenin pathways
GEO Series GSE160939. Homo sapiens. 6 samples. Type: Expression profiling by high throughput sequencing.
Transcriptome analysis revealed key genes and pathways of nitrate in the prevention of hypoxia-induced small intestinal epithelial injury
GEO Series GSE252373. Mus musculus. 8 samples. Type: Expression profiling by high throughput sequencing.
Altered molecular signaling pathways in the hippocampus of rhesus monkeys following chronic alcohol use
GEO Series GSE297855. Macaca mulatta. 12 samples. Type: Expression profiling by high throughput sequencing.
Acute Myeloid Leukemia Induces Natural Killer Cell Exhaustion via Inhibition of the PI3K-AKT Pathway
GEO Series GSE252702. Homo sapiens. 6 samples. Type: Expression profiling by high throughput sequencing.
Novel inhibition of central carbon metabolism pathways by Rac and Cdc42 inhibitorMBQ-167 and paclitaxel
GEO Series GSE272653. Mus musculus. 12 samples. Type: Expression profiling by high throughput sequencing.
Investigation of LARP1 regulated cellular pathways in acute myeloid leukemia
GEO Series GSE304358. Homo sapiens. 36 samples. Type: Expression profiling by high throughput sequencing.
Transcriptome analysis and characterization of differential pathways of hMSCs in response to BiFP containing integrin or DDR2 binding motifs creates signals
GEO Series GSE249677. Homo sapiens. 18 samples. Type: Expression profiling by high throughput sequencing.
Identification of a novel TINCR-EGFR signaling pathway loop which initiates receptor tyrosine kinases cascade and confers tumorigenesis in human cancer [mRNA]
GEO Series GSE125330. Homo sapiens. 9 samples. Type: Expression profiling by high throughput sequencing.
Activation of Epidermal Growth Factor Receptor Pathway in Slow-Flow Vascular Malformations
GEO Series GSE130807. Homo sapiens. 11 samples. Type: Expression profiling by high throughput sequencing.
The RNA binding protein MEX3A controls G1/S transition via regulating RB/E2F pathway in clear cell renal cell carcinoma [RIP-Seq]
GEO Series GSE175405. Homo sapiens. 3 samples. Type: Other.
Anaerobic fermentative metabolism of Corynebacterium glutamicum is hampered by a functional oxidative pentose phosphate pathway
GEO Series GSE143977. Corynebacterium glutamicum. 6 samples. Type: Expression profiling by high throughput sequencing.
Novel Regulators and Developmental Pathways of Pituitary Thyrotrope Subpopulations
GEO Series GSE205418. Mus musculus. 2 samples. Type: Expression profiling by high throughput sequencing.
Integrative investigation on breast cancer in ER, PR and HER2-defined subgroups using mRNA and miRNA expression profiling and cancer core pathway analysis
GEO Series GSE43040. Homo sapiens. 115 samples. Type: Non-coding RNA profiling by array.
Valproic acid inhibits Burkitt lymphoma by downregulating PFN2 expression to modulate the PI3K/AKT pathway
GEO Series GSE298448. Mus musculus. 6 samples. Type: Expression profiling by high throughput sequencing.
Systems analysis of interaction between p38/MAPK pathway and SARS-CoV-2
GEO Series GSE183999. Homo sapiens. 9 samples. Type: Expression profiling by high throughput sequencing.
ScienceDex guides
Understand access before you commit
These curated guides explain access requirements, typical timelines, costs, and reuse considerations for widely used research datasets.
Allen Brain Atlas
Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.
Annotated Behaviour and Observability Dataset (ABODe)
ABODe is a University of Edinburgh DataShare dataset for behavior classification in group-housed mice using home-cage video, identities, bounding boxes, ground-plate positions, and annotator labels.
DANDI Archive for NWB datasets
DANDI is a BRAIN Initiative archive for publishing and sharing neurophysiology data, including electrophysiology, optophysiology, and behavioral data packaged as NWB and related standards.
International Brain Laboratory public data
The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.