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6,234 results for “phenotypes”
Deciphering the molecular alterations sustaining an inverted apicobasal polarity phenotype in colorectal cancer clusters (Tumour Spheres with Inverted Polarity, TSIPs)
GEO Series GSE152299. Homo sapiens. 18 samples. Type: Expression profiling by array.
Autophagy deficient melanocytes display a senescence associated secretory phenotype that includes oxidized lipid mediators
GEO Series GSE83856. Mus musculus. 8 samples. Type: Expression profiling by array.
The ets transcription factor ELF5 suppresses the estrogen sensitive phenotype and contributes to antiestrogen resistance in luminal breast cancer. [mouse]
GEO Series GSE30406. Mus musculus. 6 samples. Type: Expression profiling by array.
Data set from Laforgia P, Bandera F, Alfonzetti E, Guazzi M. Exercise chronotropic incompetence phenotypes the level of cardiovascular risk and exercise gas exchange impairment in the general population. An analysis of the Euro-EX prevention trial. Eur J Prev Cardiol. 2020 Mar;27(5):526-535. doi: 10.1177/2047487319863506. Epub 2019 Jul 25. PMID: 31345056.
<p>Data set from Laforgia P, Bandera F, Alfonzetti E, Guazzi M. Exercise chronotropic incompetence phenotypes the level of cardiovascular risk and exercise gas exchange impairment in the general population. An analysis of the Euro-EX prevention trial. Eur J Prev Cardiol. 2020 Mar;27(5):526-535. doi: 10.1177/2047487319863506. Epub 2019 Jul 25. PMID: 31345056.</p> <p> </p> <p>This is the article:</p> <p><strong>Background: </strong> Chronotropic insufficiency (CI) is defined as the inability of the heart to increase its rate commensurate with increased demand. Exercise CI is an established predictor of major adverse cardiovascular events in patients with cardiovascular diseases.</p> <p><strong>Aim: </strong> The aim of this study was to evaluate how exercise CI phenotypes different levels of cardiovascular risk and how it may better perform in defining cardiovascular risk when analysed in the context of cardiopulmonary exercise test (CPET)-derived measures and standard echocardiography in a healthy population with variable cardiovascular risk profile.</p> <p><strong>Methods: </strong> Apparently healthy individuals (<em>N</em> = 702, 53.8% females) with at least one major cardiovascular risk factor (MCVRF; hypertension, diabetes, tabagism, dyslipidaemia, body mass index > 25), enrolled in the Euro-EX prevention trial, underwent CPET. CI was defined as the inability to reach 80% of the chronotropic index, that is, the ratio of peak heart rate - rest heart rate/peak heart rate - age predicted maximal heart rate (AMPHR: 220 - age), they were divided into four groups according to the heart rate reserve (<80%>) and respiratory gas exchange ratio (RER; < 1.05>) as a marker of achieved maximal performance. Subjects with a RER < 1.05 (<em>n</em> = 103) were excluded and the final population (<em>n</em> = 599) was divided into CI group (<em>n</em> = 472) and no-CI group (<em>n</em> = 177).</p> <p><strong>Results: </strong> Compared with no-CI, CI subjects were more frequently females with a history of hypertension in a high rate. CI subjects also exhibited a significantly lower peak oxygen uptake (VO<sub>2</sub>) and circulatory power and an echocardiographic pattern indicative of higher left atrial volume index and left ventricular mass index. An inverse stepwise relationship between heart rate reserve and number of MCVRFs was observed (one MCVRF: 0.71 ± 0.23; two MCVRFs: 0.68 ± 0.24, three MCVRFs: 0.64 ± 0.20; four MCVRFs: 0.64 ± 0.23; five MCVRFs: 0.57 ± 18; <em>p</em> < 0.01). In multivariate analysis the only variable found predicting CI was peak VO<sub>2</sub> (<em>p</em> < 0.05; odds ratio 0.91; confidence interval 0.85-0.97).</p> <p><strong>Conclusions: </strong> In a population of apparently healthy subjects, exercise CI is common and phenotypes the progressive level of cardiovascular risk by a tight relationship with MCVRFs. CI patients exhibit some peculiar abnormal exercise gas exchange patterns (lower peak VO<sub>2</sub> and exercise oscillatory ventilation) and echo-derived measures (higher left atrium size and left ventricle mass) that may well anticipate evolution toward heart failure.</p> <p> </p>
Dataset related to the article "Impact of BDNF Val66Met Polymorphism on Myocardial Infarction: Exploring the Macrophage Phenotype"
<p>This record contains raw data related to the article "Impact of BDNF Val66Met Polymorphism on Myocardial Infarction: Exploring the Macrophage Phenotype"</p>
Dataset related to the article "The microRNA-34a-induced senescence-associated secretory phenotype (SASP) favors Vascular Smooth Muscle Cells calcification"
<p>This record containsraw data related to the article"The microRNA-34a-induced senescence-associated secretory phenotype (SASP) favors Vascular Smooth Muscle Cells calcification"</p> <p>The senescence of vascular smooth muscle cells (VSMCs), characterized by the acquisition of senescence-associated secretory phenotype (SASP), is relevant for VSMCs osteoblastic differentiation and vascular calcification (VC). MicroRNA-34a (miR-34a) is a driver of such phenomena and could play a role in vascular inflammaging.</p> <p>Herein, we analyzed the relationship between miR-34a and the prototypical SASP component IL6 in <em>in vitro</em> and <em>in vivo</em> models. miR-34a and IL6 levels increased and positively correlated in aortas of 21 months-old male C57BL/6J mice and in human aortic smooth muscle cells (HASMCs) isolated from donors of different age and undergone senescence. Lentiviral overexpression of miR-34a in HASMCs enhanced IL6 secretion. HASMCs senescence and calcification accelerated after exposure to conditioned medium of miR-34a-overexpressing cells. Analysis of miR-34a-induced secretome revealed enhancement of several pro-inflammatory cytokines and chemokines, including IL6, pro-senescent growth factors and matrix-degrading molecules. Moreover, induction of aortas medial calcification and concomitant IL6 expression, with an overdose of vitamin D, were reduced in male C57BL/6J <em>Mir34a<sup>-/-</sup></em> mice. Finally, a positive correlation was observed between circulating miR-34a and IL6 in healthy subjects of 20-90 years.</p> <p>Hence, the vascular age-associated miR-34a promotes VSMCs SASP activation and contributes to arterial inflammation and dysfunctions such as VC.</p> <p> </p>
Supporting data: Prevalence of sexual dimorphism in mammalian phenotypic traits
<p>Supporting material for the manuscript <strong>“</strong><strong>Prevalence of sexual dimorphism in mammalian phenotypic traits”</strong> </p> <p> </p> <p> </p>
Queensland Twin Adolescent Brain (QTAB) Non-Imaging Phenotypes
<p>Non-imaging phenotypes for the Queensland Twin Adolescent Brain (QTAB) project. The non-imaging phenotypes dataset contains restricted demographic data, as well as assessments of puberty, cognition, anxiety and/or depression, emotional and social behaviours, social support and family functioning, stress, sleep and physical health, early life and family demographics, dietary behaviour, and COVID-19 Pandemic Specific Assessments.</p>
Data for publication "Transcriptional and functional profiling of Endothelial Colony Forming Cells identifies inflammation and endothelial to mesenchymal transition as drivers for phenotypic heterogeneity"
<p>Here, the data is stored for the article "Transcriptional and functional profiling of Endothelial Colony Forming Cells identifies inflammation and endothelial to mesenchymal transition as drivers for phenotypic heterogeneity" which is currently submitted but not accepted.</p><p>it was not possible to include all data in this repository. the confocal tilescan images used for WPB and Cell morphology quantification and images used for the migration assay were too many and too large in size to include. However, this data is available upon request.</p>
Atlas of phenotypic, genotypic and geographical diversity present in the European traditional tomato: Datasets 6 and 7
<p><a href="#_Toc87944988">Dataset 6. Complete set of imputed SNPs located on chromosomes and accessions.</a></p> <p><a href="#_Toc87944989">Dataset 7. Complete set of SNPs located on chromosomes and accessions that have passed all filters.</a></p>
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum
<p>Joubert syndrome (JS) is a recessively inherited ciliopathy characterized by congenital ocular motor apraxia (COMA), developmental delay, intellectual disability, ataxia, multiorgan involvement and a unique cerebellar and brainstem malformation. Over 40 JS-associated genes are known, with diagnostic yield of 60-75%.</p> <p>In 2018, we reported homozygous hypomorphic missense variants of the SUFU gene in two families with mild JS. Recently, heterozygous truncating SUFU variants were identified in families with dominantly inherited COMA, occasionally associated with mild DD and subtle cerebellar anomalies.</p> <p>We reanalyzed NGS data in two cohorts comprising 1097 probands referred for genetic testing of JS genes. Heterozygous truncating and splice-site SUFU variants were detected in 22 patients from 17 families (1.5%) with strong male prevalence (86%), and in eight asymptomatic parents. The majority of affected children presented with the same constellation of neurological features seen at the mildest end of the JS spectrum, characterized by early onset hypotonia persisting in infancy, COMA, mild motor and speech delay and mild truncal and limb ataxia.</p> <p>Ataxia occurred in over 60% of the patients, while only about one third eventually manifested intellectual disability. Abnormal neonatal breathing was reported only in a minority of patients. Of note, macrocephaly was present in 19 out of 22 children, while extra-neurological involvement was extremely rare. Attention-Deficit/Hyperactivity Disorder, autism traits, obsessive-compulsive disrdr and other behavioral defects were reported in a minority of patient.</p>
Brugada syndrome genetics is associated with phenotype severity.
<p>Dataset from Ciconte G, Monasky MM, Santinelli V, Micaglio E, Vicedomini G, Anastasia L, Negro G, Borrelli V, Giannelli L, Santini F, de Innocentiis C, Rondine R, Locati ET, Bernardini A, Mazza BC, Mecarocci V, Ćalović Ž, Ghiroldi A, D'Imperio S, Benedetti S, Di Resta C, Rivolta I, Casari G, Petretto E, Pappone C. Brugada syndrome genetics is associated with phenotype severity. Eur Heart J. 2021 Mar 14;42(11):1082-1090. doi: 10.1093/eurheartj/ehaa942. PMID: 33221895; PMCID: PMC7955973.</p> <p><strong>Abstract</strong></p> <p><strong>Aims: </strong>Brugada syndrome (BrS) is associated with an increased risk of sudden cardiac death due to ventricular tachycardia/fibrillation (VT/VF) in young, otherwise healthy individuals. Despite SCN5A being the most commonly known mutated gene to date, the genotype-phenotype relationship is poorly understood and remains uncertain. This study aimed to elucidate the genotype-phenotype correlation in BrS.</p> <p><strong>Methods and results: </strong>Brugada syndrome probands deemed at high risk of future arrhythmic events underwent genetic testing and phenotype characterization by the means of epicardial arrhythmogenic substrate (AS) mapping, and were divided into two groups according to the presence or absence of SCN5A mutation. Two-hundred probands (160 males, 80%; mean age 42.6 ± 12.2 years) were included in this study. Patients harbouring SCN5A mutations exhibited a spontaneous type 1 pattern and experienced aborted cardiac arrest or spontaneous VT/VF more frequently than the other subjects. SCN5A-positive patients exhibited a larger epicardial AS area, more prolonged electrograms and more frequently observed non-invasive late potentials. The presence of an SCN5A mutation explained >26% of the variation in the epicardial AS area and was the strongest predictor of a large epicardial area.</p> <p><strong>Conclusion: </strong>In BrS, the genetic background is the main determinant for the extent of the electrophysiological abnormalities. SCN5A mutation carriers exhibit more pronounced epicardial electrical abnormalities and a more aggressive clinical presentation. These results contribute to the understanding of the genetic determinants of the BrS phenotypic expression and provide possible explanations for the varying degrees of disease expression.</p>
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 " Behavioural and cognitive phenotypes of patients with amyotrophic lateral sclerosis carrying SOD1 mutations" (manuscript submitted)
<p>Clinical and neuropsychological anonymized data of patients involved in the study presented in the submitted article mentioned at title </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>
Autism-linked UBE3A gain-of-function mutation causes interneuron and behavioral phenotypes when inherited maternally or paternally in mice
<p>The E3 ubiquitin ligase Ube3a is biallelically expressed in mitotic cells, including neural progenitors and glial cells, raising the possibility that UBE3A gain-of-function mutations might cause neurodevelopmental disorders irrespective of parent-of-origin. To test this possibility, we engineered a mouse line that harbors an autism-linked UBE3A-T485A (T508A in mouse) gain-of-function mutation and evaluated phenotypes in animals that inherited the mutant allele paternally, maternally, or from both parents. We found that both paternally and maternally expressed UBE3A-T485A resulted in elevated UBE3A activity in neural progenitors and glial cells where Ube3a is biallelically expressed. Expression of UBE3A-T485A from the maternal allele, but not the paternal one, led to a persistent elevation of UBE3A activity in postmitotic neurons. Maternal, paternal, or biparental inheritance of the mutant allele promoted embryonic expansion of Zcchc12 lineage interneurons which mature into Sst and Calb2 expressing interneurons, and caused a spectrum of behavioral phenotypes that differed by parent-of-origin. Phenotypes were distinct from those observed in Angelman syndrome model mice that harbor a Ube3a maternal loss-of-function allele. Our study shows that the UBE3A-T485A gain-of-function mutation causes distinct neurodevelopmental phenotypes when inherited maternally or paternally. These findings have clinical implications for a growing number of disease-linked UBE3A gain-of-function mutations.</p> <p>Single-cell RNA-seq (drop-seq) of mouse cerebral cortex from Ube3a-WT, Ube3a-T485A homozygotes, assessed at two ages: E14.5 and P0</p>
Supplementary Table 1. Isolate code, geographic origin, year, host, phenotypic reaction on four differential wheat lines of Pyrenophora tritici-repentis, PCR reaction and race designation of Ptr isolates in Kazakhstan
<p>Supplementary Table 1. Isolate code, geographic origin, year, host, phenotypic reaction on four differential wheat lines of Pyrenophora tritici-repentis, PCR reaction and race designation of Ptr isolates in Kazakhstan</p>
Phenotyping Polarization Dynamics Of Immune Cells Using A Lipid Droplet - Cell Pairing Microfluidic Platform
<p>Raw data from the article : </p> <p><strong>Phenotyping Polarization Dynamics Of Immune Cells Using A Lipid Droplet - Cell Pairing Microfluidic Platform</strong></p> <p>Léa Pinon, Nicolas Ruyssen, Judith Pineau, Olivier Mesdjian, Damien Cuvelier, Rachele Allena, Sophie Asnacios, Atef Asnacios, PaoloPierobon, Jacques Fattaccioli</p>
Cardiovascular Risk Factors Associated With the Metabolically Healthy Obese (MHO) Phenotype Compared to the Metabolically Unhealthy Obese (MUO) Phenotype in Children
<p><strong>Background:</strong> In pediatric age the prevalence of obesity is high. Obese children who do not have other risk factors than excess weight have been defined as "metabolically healthy obese" (MHO). <strong>Aim:</strong> The aim of this study is to evaluate, in a population of obese children, the prevalence of the MHO and "metabolically unhealthy obese" (MUO) phenotype. Furthermore, we evaluated the distribution of Uric Acid, HOMA index and Waist-Height ratio (W-Hr) in the MHO and MUO sub-groups and the impact of these non-traditional risk factors on the probability to be MUO. <strong>Methods:</strong>In 1201 obese children and adolescents [54% males, age (±SD) 11.9 (±3.0) years] weight, height, waist circumference, systolic (SBP) and diastolic (DBP) blood pressure, pubertal status, glucose, insulin, HDL cholesterol, triglycerides and Uric Acid serum values were assessed. MUO phenotype was defined as the presence of at least one of the following risk factors: SBP or DBP ≥ 90th percentile, glycaemia ≥ 100 mg/dl, HDL cholesterol <40 mg/dl, triglycerides ≥100 mg/dl (children <10 years) or ≥130 mg/dl (children ≥10 years). A multivariate logistic regression analysis was used to estimate the association between MUO phenotype and non-traditional cardiovascular risk factors. <strong>Results:</strong> The prevalence of the MUO status was high (61%). MUO subjects were more often male, older and pubertal (<em>p</em> < 0.001). The levels of the three non-traditional risk factors were significantly higher in MUO children compared to MHO children (<em>p</em> < 0.001) and all of them were independent predictors of the fact of being MUO [OR 1.41 (95% CI 1.24-1.69); 1.15 (95% CI 1.06-1.23) and 1.03 (95% CI1.01-1.05) for Uric Acid, HOMA index and W-Hr, respectively]. About 15% of MHO subjects had serum Uric Acid, HOMA index and W-Hr values within the highest quartile of the study population. <strong>Conclusion:</strong> The prevalence of MUO subjects in a large pediatric population is high and serum Uric Acid, HOMA index and W-Hr values are independent predictors of the probability of being MUO. A non-negligible percentage of subjects MHO has high values of all three non-traditional risk factors.</p> <div class="pg-extension"> </div>
Dataset related to the article "Enduring Reactive Oxygen Species Emission Causes Aberrant Protein S-Glutathionylation Transitioning Human Aortic Valve Cells from a Sclerotic to a Stenotic Phenotype"
<p>This record contains raw data related to the article "Enduring Reactive Oxygen Species Emission Causes Aberrant Protein S-Glutathionylation Transitioning Human Aortic Valve Cells from a Sclerotic to a Stenotic Phenotype"</p> <p><strong><em>Aims:</em></strong> During calcific aortic valve stenosis (CAVS) progression, oxidative stress and endothelial dysfunction mark the initial pathogenic steps with a parallel dysregulation of the antioxidant systems. Here, we tested whether oxidation-induced protein S-glutathionylation (P-SSG) accounts for a phenotypic switch in human aortic valvular tissue, eventually leading to calcium deposition. Next, we tested whether countering this reactive oxygen species (ROS) surge would prevent these perturbations. <strong><em>Results:</em></strong> We employed state-of-the-art technologies, such as electron paramagnetic resonance (EPR), liquid chromatography-tandem mass spectrometry, imaging flow-cytometry, and live-cell imaging on human excised aortic valves and primary valve endothelial cells (VECs). We observed that a net rise in EPR-detected ROS emission marked the transition from fibrotic to calcific in human CAVS specimens, coupled to a progressive increment in P-SSG deposition. In human VECs (hVECs), treatment with 2-acetylamino-3-[4-(2-acetylamino-2-carboxyethylsulfanylthiocarbonylamino)phenylthiocarbamoylsulfanyl]propionic acid triggered highly oxidizing conditions prompting P-SSG accumulation, damaging mitochondria, and inducing endothelial nitric oxide synthase uncoupling. All the events conjured up in morphing these cells from their native endothelial phenotype into a damaged calcification-inducing one. As proof of principle, the use of the antioxidant N-acetyl-L-cysteine prevented these alterations. <strong><em>Innovation:</em></strong> Borne as a compensatory system to face excessive oxidative burden, with time, P-SSG contributes to the morphing of hVECs from their innate phenotype into a damaged one, paving the way to calcium deposition. <strong><em>Conclusion:</em></strong> Our data suggest that, in the human aortic valve, unremitted ROS emission along with a P-SSG build-up occurs and accounts, at least in part, for the morphological/functional changes leading to CAVS.</p>
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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.
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.