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13,531 results for “Down Syndrome”
Data files and videos for manuscript "Biallelic pathogenic variants in ROBO1 associate with syndromic CAKUT"
<p>#2021-11-20<br> #Summary<br> This ZIP-file contains the supplementary files of our ROBO1 study. <br> Suppl. File S1 details the next-generation sequencing-based gene panel comprising 426 CKD-associated genes performed in ID 1.<br> Suppl. File S2 contains a variant information and raw in silico data.<br> Suppl. Videos SV1A and SV1B show cardiac valve anomalies comprising mitral valve prolapse in ID 1.<br> Suppl. Video SV2 shows renal anomalies and hydroureter as documented in-vivo by microCT-scan of the mutant mice.</p> <p>#Folder structure<br> ./ (parent directory containing this README file and all subfolders)<br> ./Files/ (contains Excel Suppl. File S1 and Suppl.File S2)<br> ./Videos/ (contains the Suppl. Videos)</p> <p><br> #Files and checksums<br> Algorithm Hash Path<br> --------- ---- ----<br> MD5 2BCB0774F8303FC5DBA2313DFD19FBEE Files\FileS1_Panel-Content.xlsx<br> MD5 015F01832AE1C6610D9C1FB8902FDF17 Files\FileS2_Variants-and-Domains_2021-05-18.xlsx<br> MD5 8BBE3DE1C21F161BCE07A2AFB4A6F7CD Videos\Supplementary Video SV1\Supplementary Video SV1.docx<br> MD5 5EA354253D7E489B48EDFBDE59CFB798 Videos\Supplementary Video SV1\Supplementary Video SV1A.mov<br> MD5 61796C4A5F7EAD79D642ED9D11514A95 Videos\Supplementary Video SV1\Supplementary Video SV1B.mov<br> MD5 4098A23D5CE1C67C1D507D4DD5F4F866 Videos\Supplementary Video SV2\Lo_Robo mutant.mov<br> MD5 D0B219332F227DBECF1A2A1A6AD0925A Videos\Supplementary Video SV2\Supplementary Video SV2.mov</p>
How early does the selfing syndrome arise? Associations between selfing ability and flower size within populations of the mixed mater Collinsia verna
<p>Widespread associations between selfing rate and floral size within and among taxa suggest that these traits may evolve in concert. Does this association develop immediately, because of shared genetic/developmental control, or stepwise with selection shaping the evolution of one trait following the other? If the former, then association ought to appear within and across populations. We explore this fundamental question in three populations of the mixed-mater Collinsia verna where autonomous selfing (AS) ability has been shown to be under selection by the pollination environment. We grew clonal replicates of C. verna in a controlled environment to characterize broad-sense genetic correlations among traits within populations and to assess whether divergence in mating system and floral traits among these populations is consistent with their previously observed selection pressures. As predicted by their respective pollination environments, we demonstrate significant genetic divergence among populations in AS ability. However, patterns of divergence in floral traits (petal, stamen, and style size, stigmatic receptivity, and stigma-anther distance) were not as expected. Within populations, genetic variation in AS appeared largely independent from floral traits, except for a single weak negative association in one population between flower size and AS rate. Together, these results suggest that associations between selfing rate and floral traits across Collinsia species are not reflected at microevolutionary scales. If C. verna were to continue evolving toward the selfing syndrome, floral trait evolution would likely follow stepwise from mating system evolution.</p>
Plant pathogens provide clues to the origin of bat white-nose syndrome Pseudogymnoascus destructans
<p>Phylogenomic analyses of P. destructans.</p> <p>This is a snapshot of the GitLab repository available at https://gitlab.gwdg.de/molsysevol/pseudogymnoascus-destructans-phylogeny/.</p>
Data files for manuscript "A novel syndrome caused by the constitutional gain-of-function variant p.Glu1099Lys in NSD2"
<p>#2022-02-21<br> #Summary<br> This ZIP-file contains the data files used for all analyses for the manuscript "A novel syndrome caused by the constitutional gain-of-function variant p.Glu1099Lys in NSD2".</p> <p><br> #File structure<br> README.txt This README file.<br> File S02 ("FileS02_NSD2-clinical-information-and-variants.xlsx") Clinical data of GoF and LoF inidviduals used for Table 1 and Table 2 and genetic variant data used for Figure 2.<br> File S03 ("FileS03_NSD2-CCLE-analyses.xlsx") Tables containing information of the CCLE analyses and depmap results used for Figure 3A-D.<br> File S04 ("FileS04_humanbase_global_1642958821189.tar.gz") Tar.gz file of the downlaoded humanbase result files used for Figure 3E.</p> <p><br> #Files and checksums<br> 5FE613FC7646419C20153068E8D5F463 ./FileS02_NSD2-clinical-information-and-variants.xlsx<br> AC53634E6044469BE42DBBE8F7503275 ./FileS03_NSD2-CCLE-analyses.xlsx<br> 7AE58A28A4D1E1462521A37522BB78B6 ./FileS04_humanbase_global_1642958821189.tar.gz</p>
Data from: Unravelling the causes and consequences of dispersal syndromes in a wild passerine
<p><span>Evidence accumulates that dispersal is correlated with individual behavioural phenotype ('dispersal syndrome'). The evolutionary causes and consequences of such covariation depend on the degree of plasticity vs inheritance of the traits, which requires challenging experiments to implement in mobile organisms. Here, we combine a forced dispersal experiment, natural colonisation and longitudinal data to establish if dispersal and aggression levels are integrated and to test their adaptive nature in pied flycatchers (<em>Ficedula hypoleuca</em>). We found that (forced) dispersers behaved more aggressively in their first breeding year after dispersal and decreased their aggression in following years. Strength of dispersal syndrome and direction of fecundity selection on aggression in newly colonised areas varied between years. We propose that the net benefits of aggression for dispersers increase under harsh conditions (e.g. low food abundance). This hypothesis now warrants further testing. Overall, this study provides unprecedented experimental evidence that dispersal syndromes can</span><span> be remodelled via adaptive plasticity depending on the individuals' local breeding experience and/or year-specific ecological conditions. It highlights the importance of individual behavioural variation in population dynamics.</span></p>
Dataset of Reaction Times for the Study of Differential Functional Changes in Visual Performance During Acute Exposure to Microgravity Analogue and their Potential Links with Spaceflight-Associated Neuro-Ocular Syndrome
<p><strong>Title</strong>: "Dataset of Reaction Times for the Study of Differential Functional Changes in Visual Performance During Acute Exposure to Microgravity Analogue and their Potential Links with Spaceflight-Associated Neuro-Ocular Syndrome"<br>Zenodo DOI: 10.5281/zenodo.11840654</p> <p><strong>Contains</strong>: simple-reaction-times-VBRHDT-data.csv<br>Dateset of SRT (simple reaction time) values to visual stimuli in different positions in visual field, binocularly observed, in a microgravity analogue study, in four body positions (vertical, horizontal, -6 deg tild, -15 deg tilt). <br>Total records contained: 3584.</p> <p><strong>Institutional Review Board Statement</strong>: The study was conducted in accordance with the Declaration of Helsinki, and approved by the Ethics Committee “Carol Davila” University of Medicine and Pharmacy Bucharest, Romania, 14877/26.05.2023. Data was collected in SpaceMed Laboratory , CIeH (Center for Innovation and eHealth) of UMF Carol Davila Bucharest, Romania.</p> <p><strong>Citation and</strong> <strong>Detailed description:</strong> see "<em>Differential functional changes in visual performance during acute exposure to microgravity analogue and their potential links with Spaceflight-Associated Neuro-Ocular Syndrome</em>", 2024, by Iftime A, Tofolean IT, Pintilie V, Călinescu O, Busnatu S, Papacocea IR, Diagnostics ,2024; 14(17):1918. doi: 10.3390/diagnostics14171918 <br>https://pubmed.ncbi.nlm.nih.gov/39272703/</p> <p><strong>Structure</strong>: Dataset is in CSV (Comma-Separated Values) format, UTF-8 encoded, text field delimited with quotation marks, in tidy format; one row is one record from the SRT task, variables values are in columns). The first row is the variable name. The variable are:</p> <p>1) "live_row"<br>- type: integer numbers, sequential;<br>- values: the index (order) of each SRT measurement performed in a body position, by a participant (ID). The value is C-based (first measurement is "0", second measurement is "1", etc).</p> <p>2) "response_time"<br>- type: real numbers, continuous values;<br>- values: response time recorded from the participant; values in miliseconds.</p> <p>3) "target_position_x_deg"<br>- type: real numbers, categorical (4 values: +/- 18.478, +/- 0.75);<br>- values: horizontal visual angle, in visual degrees in the visual field, of the position of the stimulus. Screen coordinates are computed from "0" position, foveal fixation, positive values to the right, negative values to the left.</p> <p>4) "target_position_y_deg"<br>- type: real numbers, categorical (2 values: -0.75, -7.654);<br>- values: vertical visual angle, in visual degrees in the visual field, of the position of the stimulus. Screen coordinates are computed from "0" position, foveal fixation, positive values downward, negative values upward.<br>-Note: For the equivalent polar coordinates (as in planimetry testing) see Figure 2 of the mentioned paper. </p> <p>5) "Contrast_Weber_calibrated"<br>- type: real numbers, categorical (2 values: 50.58, 99.3);<br>- values: Measured Weber contrast of the visual stimulus shown, values in percents.</p> <p>6) "hand"<br>- type: categorical, 1 value ("right");<br>- values: hand used by the participant during SRT task.</p> <p>7) "body_position"<br>- type: categorical (4 values: "vertical (90 deg)", "horizontal (0 deg)", "inclined (-6 deg)", "inclined (-15 deg)" );<br>- values: Body position during the SRT task.</p> <p>8) "ID(anon)"<br>- type: integer number, categorical, 8 values;<br>- values: anonymized ID of the participants in the study (8 persons).</p>
Fig 1a in Efficacy of Doob grass, Cynodon dactylon against white spot syndrome virus in Penaeus monodon
Fig 1a: GCMS chromatogram of Cynodon dactylon extract showing fraction peaks at normal (300C) temperature. The peak in circle shows the original presence of ingredients in the C. dactylon before heating at higher temperature.
Fig 1b in Efficacy of Doob grass, Cynodon dactylon against white spot syndrome virus in Penaeus monodon
Fig 1b: GCMS chromatogram of Cynodon dactylon extract showing fraction peaks at higher (85 0C) temperature. The red arrows indicate the disappearance of active ingredient peak after heating at 85 0C which indicates the non-effectiveness of feed produced above 85 0C.
Unveiling Pathophysiological Insights: Serum Metabolic Dysregulation in Acute Respiratory Distress Syndrome Patients with Acute Kidney Injury
<p>The uploaded data is an Excel sheet obtained after performing the binning of 1H CPMG NMR spectra acquired using 800 MHz NMR on the serum samples of ARDS patients and ARDS with AKI patients. </p>
White nose syndrome model
<p>This repository accompanies the publication:</p> <p>Landscape structure and ecology influence the spread of a bat fungal disease</p> <p>Lilley, T., Anttila, J., Ruokolainen, L. 2018.</p> <p>Functional Ecology (submission FE-2018-00468)</p>
Patients data for meta-analysis of genotype-phenotype associations in Bardet-Biedl Syndrome
<p>Data used for metaanalysis of the genotype-phenotype relationship in Bardet Biedl Syndrome.</p> <p>File "EV table 1 literature.xlsx" describes studies that were included in the metaanalysis. File "EV table 2 dataset.xlsx" contains individual patient data. Each row corresponds to a patient. If the same patient was reported in more than 1 study, their data were merged into one row. The columns are as follows:</p> <p>* source - a citation to the study the patient originated in</p> <p>* FamilyID - randomly generated ID of a family (unique over the dataset), two persons with the same FamilyID are related.</p> <p>* source case n. - A unique identifier of the patient within the study</p> <p>* gene - A gene carrying the principal BBSome related mutation</p> <p>* nucleotide change (allele 1,2) - description of the mutations in DNA individual alleles of the gene, in HGVS nomenclature</p> <p>* protein change (allele 1,2) - description of how the mutations in DNA change the resulting protein, in HGVS nomenclature</p> <p>* type of mut allele 1,2 - whether the given mutation is considered missense (MS) or large truncation (trunc)</p> <p>* mut/mut - combination of mutations for both alleles</p> <p>* additional mutations - mutations in other BBSome-related genes. Format is "gene: DNA mutation, protein mutation"</p> <p>* sex - "F" or "M" (where reported)</p> <p>* age group - age group (where reported)</p> <p>* age - age in years. Contains fractions, decimal values and "5 month"</p> <p>* RD, OBE, PD, CI, REP, REN, HEART, LIV, DD - presense or absence of phenotypes, if reported. RD – retinal dystrophy, OBE – obesity, PD – polydactyly, CI – cognitive impairment , REP – reproductive system anomalies, REN – renal anomalies, HRT – heart disease, LIV – liver anomalies, DD - Developmental delay. Values are "" (not reported), "0" (no phenotype), "1" (phenotype present), "1!" conflicting reports of phenotype in multiple studies (some patients were involved in multiple studies)</p> <p>* ethnicity - ethnicity of the patient, if reported</p> <p>* ethinc group - grouping of the ethnicities into 8 larger groups (see paper for details)</p> <p>* note - miscellanous text, in particular contains notes on patients merged from multiple studies</p> <p>====</p> <p>The protocol for this meta-analysis was pre-registered with PROSPERO (CRD42018096099).</p> <p>PubMed and Google Scholar databases were searched in May 2018 for the following keywords: [bardet-biedl syndrome AND (genotype phenotype OR cohort)]. Other suitable records were identified by snowball searching, in particular, by retrieving relevant articles from the references of the studied full-texts. In addition, all the references included in the publicly available Euro-Wabb database (<a href="https://lovd.euro-wabb.org/home.php">https://lovd.euro-wabb.org/home.php</a>) were covered. Our search was limited to the literature published in English language and covered the period from the inception of each database to the 21st of May 2018.</p>
The impact of severity of acute respiratory distress syndrome following cardiac arrest on neurologic outcomes
<p>Overall survival rates at 28 days in patients with and without ARDS. ARDS = acute respiratory distress syndrome</p>
Fig. 1 in Epizootic ulcerative syndrome - First report of evidence from South Africa's largest and premier conservation area, the Kruger National Park
Fig. 1. Sampling location from which evidence of genomic material of Aphanomyces invadans was obtained in Clarias gariepinus from Nhlangaluwe Pan on the Limpopo River in the Kruger National Park, South Africa.
Fig. 4 in Louse flies in Azorean and mainland populations of four Passeriformes species: A new perspective to parasite Island syndromes
Fig. 4. Map showing the prevalence (represented by different color; yellow color represent the prevalence of uninfested birds) of hippoboscid fly species in blackbirds, blackcaps, chaffinches and robins in the each of the sampled Azorean Islands (S˜ao Miguel, Terceira and Flores) and the mainland Portugal. (For interpretation of the references to color in this figure legend, the reader is referred to the Web version of this article.)
Fig. 1 in Louse flies in Azorean and mainland populations of four Passeriformes species: A new perspective to parasite Island syndromes
Fig. 1. Map of the mainland Portugal and Azores Islands with the geographic distribution of the study areas (Silves, Olh˜ao, S˜ao Miguel Island, Terceira Island and Flores Island).
Fig. 3 in Louse flies in Azorean and mainland populations of four Passeriformes species: A new perspective to parasite Island syndromes
Fig. 3. Prevalence (%) of hippoboscid fly species found on blackbirds, blackcaps, chaffinches and robins from the Azores Islands and mainland Portugal.
Fig. 5 in Louse flies in Azorean and mainland populations of four Passeriformes species: A new perspective to parasite Island syndromes
Fig. 5. Photos of phoretic association of Guimaraesiella amsel on Ornithomya fringillina (A) and Epidermoptidae mites on Ornithoica turdi (B). Scale bar: 1 mm.
Fig. 2 in Louse flies in Azorean and mainland populations of four Passeriformes species: A new perspective to parasite Island syndromes
Fig. 2. Photos of three species of hippoboscid fly and their wings collected from Passeriformes species: (A and B) Ornithoica turdi, (C and D) Ornithomya fringillina and (E and F) Icosta minor. Scale bar: 1 mm.
Fig. 5 in The Alvarez impact theory of mass extinction; limits to its applicability and the "great expectations syndrome"
Fig. 5. Evolving timing of the multi−ring Woodleigh impact structure, manifested in purported causal connection with the P–T and F–F mass extinctions, as a reflection of variously dated processes. Age constraints still range from post−Middle Devonian to pre−Early Jurassic, but the connection with the D–C global event seems to be most likely (Glikson et al. 2005).
Fig. 4 in The Alvarez impact theory of mass extinction; limits to its applicability and the "great expectations syndrome"
Fig. 4. Evolving timing of the Siljan Ring (53 km diameter; see Fig. 2), depending on different timescales and improved radiometric dates.
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.