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13
datasets available to search
ShareScore release 0.9.0
Dataset results
13 results for “ARPKD”
Imaging Assessments of ARPKD Kidney Disease Progression
ClinicalTrials.gov study NCT07201025. IPD Sharing: NO. Countries: 1. Publications: 3.
Next Generation Sequencing Technologies to Investigate Autosomal Recessive Polycystic Kidney Disease (ARPKD).
GEO Series GSE242476. Homo sapiens. 8 samples. Type: Expression profiling by high throughput sequencing.
Deciphering the impact of RAC1-SPTAN1 in ARPKD cystogenesis using multifaceted models
GEO Series GSE288738. Homo sapiens. 8 samples. Type: Expression profiling by high throughput sequencing.
Singel cell RNA-seq analysis of ARPKD mutation affect hepatic organoid differentiation
GEO Series GSE154883. Homo sapiens. 4 samples. Type: Expression profiling by high throughput sequencing.
An organoids-on-a-chip model of human ARPKD
GEO Series GSE190272. Homo sapiens. 6 samples. Type: Expression profiling by array.
A Study to See Iftolvaptan is Safe in Infants and Children Who at Enrollment Are 28 Days to Less Than 18 Years Old withAutosomal Recessive Polycystic Kidney Disease (ARPKD)
ClinicalTrials.gov study NCT04782258. IPD Sharing: NO. Countries: 6. Publications: 0.
ARPKD Database Study
ClinicalTrials.gov study NCT01401998. IPD Sharing: Not stated. Countries: 1. Publications: 0.
A Safety, Pharmacokinetic, Single Ascending Dose Study of Tesevatinib in Pediatric Subjects With Autosomal Recessive Polycystic Kidney Disease (ARPKD)
ClinicalTrials.gov study NCT03096080. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Electrolyte and Metabolite Composition of Cystic Fluid from a rat model of ARPKD
GEO Series GSE261500. Rattus norvegicus. 10 samples. Type: Expression profiling by high throughput sequencing.
A Study to See if Tolvaptan Can Delay Dialysis in Infants and Children Who at Enrollment Are 28 Days to Less Than 12 Weeks Old With Autosomal Recessive Polycystic Kidney Disease (ARPKD)
ClinicalTrials.gov study NCT04786574. IPD Sharing: NO. Countries: 0. Publications: 0.
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>
Mapping genetic modifiers of ARPKD
GEO Series GSE58229. Rattus norvegicus. 18 samples. Type: Expression profiling by array.
Salt-deficient diet exacerbates cystogenesis in ARPKD via epithelial sodium channel (ENaC)
GEO Series GSE131693. Rattus norvegicus. 15 samples. Type: Non-coding RNA profiling by high throughput sequencing.
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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.
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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.