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49 results for “monogenic”
Spatial integration of transcription and splicing in a dedicated compartment sustains monogenic antigen expression in African trypanosomes
<p>This repository contains the data for the manuscript <a href="https://doi.org/10.1038/s41564-020-00833-4">https://doi.org/10.1038/s41564-020-00833-4</a>.</p> <p>The HiC analysis pipeline can be found at <a href="https://github.com/bgbrink/PRJEB35632">https://github.com/bgbrink/PRJEB35632</a>.</p> <p><strong>Abstract</strong></p> <p>Highly selective gene expression is a key requirement for antigenic variation in several pathogens, allowing evasion of host immune responses and maintenance of persistent infections. African trypanosomes — parasites that cause lethal diseases in humans and livestock — employ an antigenic variation mechanism that involves monogenic antigen expression from a pool of >2,600 antigen-coding genes. In other eukaryotes, the expression of individual genes can be enhanced by mechanisms involving the juxtaposition of otherwise distal chromosomal loci in the three-dimensional nuclear space. However, trypanosomes lack classical enhancer sequences or regulated transcription initiation. In this context, it has remained unclear how genome architecture contributes to monogenic transcription elongation and transcript processing. Here, we show that the single expressed antigen-coding gene displays a specific inter-chromosomal interaction with a major messenger RNA splicing locus. Chromosome conformation capture (Hi-C) revealed a dynamic reconfiguration of this inter-chromosomal interaction upon activation of another antigen. Super-resolution microscopy showed the interaction to be heritable and splicing dependent. We found a specific association of the two genomic loci with the antigen exclusion complex, whereby VSG exclusion 1 (VEX1) occupied the splicing locus and VEX2 occupied the antigen-coding locus. Following VEX2 depletion, loss of monogenic antigen expres- sion was accompanied by increased interactions between previously silent antigen genes and the splicing locus. Our results reveal a mechanism to ensure monogenic expression, where antigen transcription and messenger RNA splicing occur in a specific nuclear compartment. These findings suggest a new means of post-transcriptional gene regulation.</p>
Categorisation of monogenic disorders: Underlying a deficit of type I IFN activity / observed type I IFN signalling upregulation
<div>The last 20 years have seen the definition of human monogenic disorders and their autoimmune phenocopies underlying either defective or enhanced type I interferon (IFN) activity. These disorders delineate the impact of type I IFNs in natural conditions. Remarkably, only a narrow window of type I IFN activity is beneficial. Insufficient type I IFN predisposes humans to life-threatening viral diseases, albeit surprisingly few, with a central role in immunity to respiratory and cerebral viral infection. Excessive type I IFN, perhaps unexpectedly, appears to underlie a greater number of autoinflammatory and/or autoimmune conditions known as type I interferonopathies, whose study has revealed multiple molecular programs involved in the induction of type I IFN signaling. These observations suggest the manipulation of type I IFN activity to within a physiological range may be clinically relevant for the prevention and treatment of viral and inflammatory disease.</div>
Knockout mice represent an important tool for the multisystemic study of human monogenic heart disease
<p>Supplementary data to support a manuscript entitled "Knockout mice represent an important tool for the multisystemic study of human monogenic heart disease"</p>
Categorisation of monogenic disorders: Underlying a deficit of type I IFN activity / observed type I IFN signalling upregulation
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Autoantibody discovery across monogenic, acquired, and COVID19-associated autoimmunity with scalable PhIP-Seq
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Lesion evolution and neurodegeneration in RVCL-S, a monogenic microvasculopathy
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Phase 1b/2a Trial of Allogeneic HSCT From an HLA-partially Matched Related or Unrelated Donor After TCRab+ T-cell/CD19+ B-cell Depletion for Patients With Monogenic and/or Early-onset Medically Refrac
ClinicalTrials.gov study NCT06986382. IPD Sharing: NO. Countries: 1. Publications: 13.
Delineation of Novel Monogenic Disorders in the United Arab Emirates Population
ClinicalTrials.gov study NCT03589079. IPD Sharing: Not stated. Countries: 1. Publications: 4.
Efficacy of Semaglutide s.c. Once-weekly on Weight Loss and Management in Adolescents With Monogenic Obesity in Clinical Practice
ClinicalTrials.gov study NCT07302802. IPD Sharing: NO. Countries: 5. Publications: 5.
Sequential Transplantation of UCBSCs and Islet Cells in Children and Adolescents With Monogenic Immunodeficiency T1DM
ClinicalTrials.gov study NCT03835312. IPD Sharing: NO. Countries: 1. Publications: 17.
Data from: Identification of novel, clinically correlated autoantigens in the monogenic autoimmune syndrome APS1 by PhIP-Seq
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Autoimmunity in monogenic combined immune deficiencies with associated or syndromic features
<p><strong><em>Abstract</em></strong></p> <p><strong><em>Background</em></strong><strong>:</strong> Combined immune deficiencies (CIDs) with associated or syndromic features are a highly heterogeneous subgroup of inherited immune disorders. These patients represent specific clinical complications with an increased risk of autoimmune conditions.</p> <p><strong><em>Methods</em></strong><strong>:</strong> We analyzed data of monogenic patients with syndromic CIDs adopted from the Iranian inborn errors of immunity registry up to January 2022. A comprehensive comparison in terms of demographic, clinical, and immunological features was performed between patients with and without autoimmunity and also among four mutation groups with the most registered cases including ataxia-telangiectasia mutated (<em>ATM</em>), <em>STAT3 AD (LOF)</em> , <em>DNMT3B/ ZBTB24, </em>and <em>WAS</em> mutations.</p> <p><strong><em>Results</em></strong><strong>:</strong> A total of 137 patients with monogenic syndromic CIDs were included. Most commonly mutated genes were the <em>ATM</em> [80 (58.4%)] and <em>STAT3</em> [19 (13.9%)], followed by <em>DNMT3B</em> [11 (8%)], and <em>WAS</em> [11 (8%)]. More than 18% of all patients with syndromic CIDs, including most <em>DNMT3B / ZBTB24</em> mutations patients, were clinically diagnosed with antibody deficiencies before genetic evaluation. Patients with <em>ATM</em> and <em>WAS </em>mutations had the latest age of onset and the lowest age of diagnosis, respectively. Autoimmune disorders were diagnosed in 24 patients at a median age of 3.5 (2.6-6.0) years, 70.6% of which were diagnosed prior to the diagnosis of immunodeficiency. Lymphoproliferation, particularly hepatosplenomegaly, was significantly higher in patients with autoimmunity (<em>p=0.004</em>). Syndromic CID patients with autoimmunity had significantly lower IgG levels. Hematologic autoimmunity mainly immune thrombocytopenic purpura was the most frequent autoimmunity among major groups of <em>ATM</em>, <em>STAT3,</em> <em>DNMT3B/ ZBTB24,</em> and <em>WAS</em> mutations, however <em>ATM-</em>mutated patients present more diversified involved organs including rheumatologic, gastrointestinal and dermatologic autoimmunity.</p> <p><strong><em>Conclusion</em></strong><strong>:</strong> About 18% of patients with monogenic syndromic CIDs developed autoimmunity, mainly in the form of hematological immune diseases. Autoimmunity could be an early-onset involvement with a potential diagnostic impact on suspicious cases of syndromic CIDs.</p>
Real-life Evaluation of WEGOVY (Semaglutide) Treatment in Adults With Monogenic Obesity (ObGeSema)
ClinicalTrials.gov study NCT06380426. IPD Sharing: YES. Countries: 1. Publications: 0.
Study to Evaluate the Efficacy, Safety and Tolerability of MAS825 in Patients With Monogenic IL-18 Driven Autoinflammatory Diseases, Including NLRC4-GOF, XIAP Deficiency, or CDC42 Mutations
ClinicalTrials.gov study NCT04641442. IPD Sharing: YES. Countries: 7. Publications: 0.
Direct microglia replacement reveals pathologic and therapeutic contributions of brain macrophages to a monogenic neurological disease [RNA-seq]
GEO Series GSE288504. Mus musculus. 15 samples. Type: Expression profiling by high throughput sequencing.
Genetic Causes of Discrepant Clinic in Monogenic Twins
ClinicalTrials.gov study NCT04046796. IPD Sharing: NO. Countries: 1. Publications: 0.
Development of In Vitro Functional Assays From Primary Cells of Patients With Monogenic Diseases
ClinicalTrials.gov study NCT03763864. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Interferon Pathway Activation in Monogenic and Nonmonogenic Forms of Pediatric SLE
ClinicalTrials.gov study NCT06586710. IPD Sharing: NO. Countries: 1. Publications: 0.
Interventional Study of Implantation of hESC-derived RPE in Patients With RP Due to Monogenic Mutation
ClinicalTrials.gov study NCT03963154. IPD Sharing: NO. Countries: 1. Publications: 0.
Genetic Identification of Monogenic Disorders in Early-onset Stroke Using Targeted Next Generation Sequencing Panel
ClinicalTrials.gov study NCT04485598. IPD Sharing: Not stated. Countries: 1. Publications: 0.
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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.