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270
datasets available to search
ShareScore release 0.9.0
Dataset results
270 results for “Disease Phenotypes”
RELA haploinsufficiency manifesting as an atypical phenotype of Crohn’s disease
GEO Series GSE298194. Homo sapiens. 2 samples. Type: Expression profiling by high throughput sequencing.
Early infiltrating macrophage subtype correlates with late stage phenotypic outcome in a mouse model of hepatorenal fibrocystic disease
GEO Series GSE174168. Mus musculus. 16 samples. Type: Expression profiling by high throughput sequencing.
A broad phenotypic screen identifies novel dominant phenotypes in Huntington’s disease CAG knock-in mice
GEO Series GSE28232. Mus musculus. 16 samples. Type: Expression profiling by array.
Genetic Basis of Alternative Polyadenylation as an Emerging Molecular Phenotype for Human Traits and Diseases
GEO Series GSE139548. Homo sapiens. 6 samples. Type: Expression profiling by high throughput sequencing; Other.
Upregulation of SNAP25 by HDAC inhibition ameliorates NPC disease phenotypes via autophagy induction
GEO Series GSE185644. Homo sapiens. 4 samples. Type: Expression profiling by high throughput sequencing.
Gene expression profile of the major phenotypic subsets of tissue-resident and tissue disease-associated macrophages from healthy and nephritic NZB/W lupus prone mice respectively in comparison to dis
GEO Series GSE269402. Mus musculus. 6 samples. Type: Expression profiling by high throughput sequencing.
Phenotypes of adults with congenital heart disease around the globe: a cluster analysis
<p>Dataset from Callus E, Pagliuca S, Boveri S, Ambrogi F, Luyckx K, Kovacs AH, Apers S, Budts W, Enomoto J, Sluman MA, Wang JK, Jackson JL, Khairy P, Cook SC, Chidambarathanu S, Alday L, Eriksen K, Dellborg M, Berghammer M, Johansson B, Mackie AS, Menahem S, Caruana M, Veldtman G, Soufi A, Fernandes SM, White K, Kutty S, Moons P; APPROACH-IS consortium and the International Society for Adult Congenital Heart Disease (ISACHD). Phenotypes of adults with congenital heart disease around the globe: a cluster analysis. Health Qual Life Outcomes. 2021 Feb 10;19(1):53. doi: 10.1186/s12955-021-01696-x. PMID: 33568120; PMCID: PMC7877115.</p> <p>Abstract</p> <p><strong>Objective: </strong>To derive cluster analysis-based groupings for adults with congenital heart disease (ACHD) when it comes to perceived health, psychological functioning, health behaviours and quality of life (QoL).</p> <p><strong>Methods: </strong>This study was part of a larger worldwide multicentre study called APPROACH-IS; a cross sectional study which recruited 4028 patients (2013-2015) from 15 participating countries. A hierarchical cluster analysis was performed using Ward's method in order to group patients with similar psychological characteristics, which were defined by taking into consideration the scores of the following tests: Sense Of Coherence, Health Behavior Scale (physical exercise score), Hospital Anxiety Depression Scale, Illness Perception Questionnaire, Satisfaction with Life Scale and the Visual Analogue Scale scores of the EQ-5D perceived health scale and a linear analogue scale (0-100) measuring QoL.</p> <p><strong>Results: </strong>3768 patients with complete data were divided into 3 clusters. The first and second clusters represented 89.6% of patients in the analysis who reported a good health perception, QoL, psychological functioning and the greatest amount of exercise. Patients in the third cluster reported substantially lower scores in all PROs. This cluster was characterised by a significantly higher proportion of females, a higher average age the lowest education level, more complex forms of congenital heart disease and more medical comorbidities.</p> <p><strong>Conclusions: </strong>This study suggests that certain demographic and clinical characteristics may be linked to less favourable health perception, quality of life, psychological functioning, and health behaviours in ACHD. This information may be used to improve psychosocial screening and the timely provision of psychosocial care.</p>
dataset related to article "Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations"
<p>dataset relateto to article at title</p>
phenotyping of patients with Advanced Chronic Liver Disease for better characterization of Cirrhosis Regression
<p>Regression of cirrhosis has been observed in patients with viral and non-viral etiologies of liver disease in whom the underlying cause of liver injury was effectively suppressed. However, the understanding of the factors contributing to reversibility of fibrosis and cirrhosis is limited. Our aim was to assess clinical factors, perform genotyping of known variants, and comprehensive metabolic phenotyping to characterize the regression of fibrosis in patients with compensated advanced chronic liver disease (cACLD).</p> <p>In a case-control pilot study with 60 cACLD patients, we compared individuals exhibiting histological or clinical evidence of cACLD regression ("regressors") with those showing no improvement ("non-regressors") after a minimum of 24 months of successful therapy for the cause of liver disease. </p> <p>A subgroup of 15 patients had paired frozen biopsies (before and after etiologic therapy) preserved and stored. RNA was extracted from those paired liver tissue (30 biopsies). RNA Sequencing data is saved in this repository</p>
raw data for "Two novel CACNA1F gene mutations cause two different phenotypes: Aland Eye Disease and Incomplete Congenital Stationary Night Blindness"
<p>DNA and mRNA sequences of two patients affected by CSNB2</p>
ScienceDex guides
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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.