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6,234 results for “phenotypes”
Dataset related to article "Intratumoral Switch of Molecular Phenotype and Overall Survival in Muscle Invasive Bladder Cancer"
<p>This record contains raw data related to article “Intratumoral Switch of Molecular Phenotype and Overall Survival in Muscle Invasive Bladder Cancer"</p> <p>Abstract</p> <p>In recent years, immunohistochemical protein expression was studied as a surrogate to the molecular classification of bladder cancer, although no tissue biomarkers are available for clinical use to predict survival or the response to neoadjuvant chemotherapy (CT) in UC, as the literature produced conflicting results. This retrospective study included TURB specimens harboring foci of HG pT2 muscle-invasive bladder carcinoma (MIBC) from 251 patients who subsequently underwent radical cystectomy. We performed immunohistochemical analysis on tumor samples, for relevant gene-expression-based markers for basal type (<em>CD44</em>, <em>CK5/6</em>) and luminal type (<em>CK20</em> and <em>pPARγ</em>). Piescore, investigated in both non-muscle-invasive (NMI) and muscle-invasive (MI) components of the tumor, divided basal and luminal UC-types when at least three of the four markers were consistent with a specific phenotype, mixed types if one/two luminal and basal markers were present simultaneously, and neu-like types when all four markers investigated were negative. Eighteen selected cases were also investigated with RT-PCR to validate, and to increase the specificity of, the immunohistochemical results. We observe an immunophenotypical difference in the NMI and MI components in 96/251 UC patients (38.25%): half of tumors (44/96 cases) have a transition to basal, 36.46% (35/96 cases) to neu-like, 12.5% (12/96 cases) to mixed, and 5.2% (5/96 cases) to luminal phenotypes. Mixed tumors in the NMI component are more likely to change phenotype than other groups, particularly compared with basal tumors, which demonstrate greater stability (only 8/96 cases, <em>p</em> &lt; 0.00001). The transition of luminal tumors to basal display a better OS compared with the transition toward neu-like tumors (<em>p</em> = 0.027). Overall, the phenotypical switch does not affect lymphovascular invasion, pT, DFS, or OS compared with non-switched cases. In the MI component, the presence of <em>CD44</em> expression, irrespective of score-related phenotype, shows a protective effect in papillary-type UC (OS <em>p</em> = 0.008, HR 0.453, PFS <em>p</em> = 0.07, HR 0.599), and in UC naïve for CT (<em>p</em> = 0.0479). Piescore immunophenotyping reveals an intratumoral phenotypical transition between the NMI and MI components of the same tumor. The molecular change is a common event in the mixed and luminal categories, but not in basal tumors, which show better phenotypical stability. This phenomenon could partially explain the sensitivity of a subset of luminal UC to chemotherapy: good responders could be "non-real" luminal UC, which acquire nasal markers, such as <em>CD44</em>.</p>
Phenotypes controlled by the Brucella abortus two component system BvrR/BvrS differ in their dependence on the phosphorylation of the response regulator BvrR
<p><em>Brucella abortus</em> is a zoonotic pathogen whose ability to survive intracellularly at the endoplasmic reticulum is essential for its virulence. The two-component system BvrR/BvrS is essential for intracellular survival due to the transcriptional control of the type IV secretion system VirB and its transcriptional regulator VjbR. In addition, this system is a master regulator of several traits including membrane conformation by controlling proteins such as Omp25. To understand the regulatory strategies used by BvrR we generated dominant positive and negative versions of this response regulator which, in addition to the wild type version, were introduced in a BvrR- background. We then characterized BvrRS-controlled phenotypes and the expression of proteins controlled by the system. We found two regulatory patterns exerted by BvrR. The first pattern was represented by resistance to polymyxin and expression of Omp25 (membrane conformation) which were restored to normal levels by the dominant positive and the wild type version, but not the dominant negative version, of BvrR. The second pattern was represented by intracellular survival and expression of VjbR and VirB (virulence) which were, again, fully complemented by wild type and the dominant versions of BvrR but, significantly restored by complementation with the dominant negative version of the response regulator. These results suggested a differential binding of unphosphorylated BvrR with promoters of the genes it controls. We confirmed this hypothesis by showing that the dominant negative version of BvrR was not able to interact with the promoter of <em>omp25</em> but was able to interact with the promoter of <em>vjbR</em>. Furthermore, a global transcriptional analysis indicated that some genes respond to the presence of the dominant negative version of BvrR. Thus, BvrR possesses diverse strategies to exert transcriptional control on the genes it regulates and as consequence on the phenotypes controlled by this response regulator.</p> <p>Here, we include the raw count data (rawcounts.txt) for all analyzed samples, as well as the experimental designed used to perform the statistical results (target.txt).</p>
Dataset related to article "DNAJB2-related Charcot-Marie-Tooth disease type 2: Pathomechanism insights and phenotypic spectrum widening"
<p>Genotype, phenotype and related pathomechanism insights of a family with a new DNAJB2 mutation;GENETICS RAW DATA OF DNAJB2 FAMILY: SANGER SEQUENCING, MLPA AND QPCR DATA </p>
Dataset related to article "OCULAR PHENOTYPE AND ELECTRORETINOGRAM ABNORMALITIES IN LAFORA DISEASE AND CORRELATION WITH DISEASE STAGE"
<p>The dataset contains clinical data of a single Eye-Lafora patient involved in the study described at title followed at Fondazione Besta</p>
DATASET RELATED TO ARTICLE: "Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature"
<p>Description of clinical and genetic data of eight PNPLA6 patients diagnosed at Besta Institute and summary of the literature previuos data for patients with the same disease.</p>
Pooled CRISPR Screening of High-content Cellular Phenotypes by Ghost Cytometry_03
<p>Pooled CRISPR Screening of High-content Cellular Phenotypes by Ghost Cytometry (Ghost Cytometer data)</p>
List of materials genotypically and/or phenotypically characterized within BRESOV
<p>List of materials genotypically and/or phenotypically characterized within BRESOV (WP2, WP3, WP4 and WP5 activities).</p>
High intensity interval training, but not whole-body cryostimulation, induces a pro-osteogenic phenotype on osteoblasts in overweight subjects.
<p>Effects of whole-body cryostimulation, high-intensity resistance training and their combination on circulating osteo-immune and bone metabolic markers and their potential effects on osteoblast function and differentiation <em>in vitro.</em></p>
Study of the Natural History and Genotype-Phenotype Correlations of Hereditary Hemorrhagic Telangiectasia Patients
ClinicalTrials.gov study NCT00004649. IPD Sharing: Not stated. Countries: 0. Publications: 0.
Genetics of Hypertension and Its Intermediate Phenotypes
ClinicalTrials.gov study NCT00006499. IPD Sharing: Not stated. Countries: 0. Publications: 0.
Identification of primate renal salt-responsive gene networks that differ by blood pressure phenotype
GEO Series GSE18484. Homo sapiens; Papio hamadryas. 4 samples. Type: Expression profiling by array.
Microglia-specific loss of PU.1 function rescues neurodegenerative phenotypes in a mouse model of Alzheimer’s disease
GEO Series GSE117868. Mus musculus. 19 samples. Type: Genome binding/occupancy profiling by high throughput sequencing; Expression profiling by high throughput sequencing.
Pathophysiology of androgen-associated endothelial cell dysfunction in phenotype A polycystic ovarian syndrome revealed by iPSCs modeling
GEO Series GSE246456. Homo sapiens. 4 samples. Type: Expression profiling by high throughput sequencing.
Oncogenic mutation BRAF V600E changes phenotypic behavior of THLE-2 liver cells through alteration of gene expression
GEO Series GSE194425. Homo sapiens. 6 samples. Type: Expression profiling by high throughput sequencing.
Peptide Driven Identification of TCRs (PDI-TCR) reveals dynamics and phenotypes of CD4 T cells in tuberculosis
GEO Series GSE293807. Homo sapiens. 48 samples. Type: Expression profiling by high throughput sequencing; Other.
tp53 R217H and R242H Mutant Zebrafish Display Dysfunctional p53 Hallmarks and Recapitulate LFS Phenotypes [RNA-seq]
GEO Series GSE267760. Danio rerio. 24 samples. Type: Expression profiling by high throughput sequencing.
Antigen-reactive CD4 T cells after SARS-CoV-2 vaccination show divergent phenotypic states with or without restimulation [separate samples]
GEO Series GSE310441. Homo sapiens. 16 samples. Type: Expression profiling by high throughput sequencing.
Dynamic rewiring of transcription factor networks during smooth muscle cell phenotypic modulation (RNA-Seq data sets)
GEO Series GSE111714. Rattus norvegicus. 14 samples. Type: Expression profiling by high throughput sequencing.
Single-cell RNA-seq Reveals Unique Vascular Smooth Muscle Cell Phenotypes in Culture
GEO Series GSE79436. Mus musculus. 67 samples. Type: Expression profiling by high throughput sequencing.
Platelet-rich fibrin induces an inflammatory phenotype of U937 macrophages
GEO Series GSE308204. Homo sapiens. 12 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.