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106 results for “pathogenic variant”
Conifer metabolite pisiferic acid restores activity in human Kv1.2 potassium channels carrying pathogenic sequence variants
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Amplicon sequence variants (ASV) of gut pathogens in hooded cranes and domestic geese
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V374A KCND3 pathogenic variant associated with paroxysmal ataxia exacerbations
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Data from: Proximity-labeling proteomics reveals remodeled interactomes and altered localization of pathogenic SHP2 variants
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A pharmacological chaperone stabilizer rescues the expression of the vast majority of pathogenic variants in a G protein-coupled receptor
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Comparison of missing data handling methods for variant pathogenicity predictors
<p>This upload contains result files from executing all experiments described in the manuscript.</p>
Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies
<p>Pathogenic variants in genes that cause dilated cardiomyopathy (DCM) and arrhythmogenic cardiomyopathy</p> <p>(ACM) convey high risks for the development of heart failure through unknown mechanisms. Using</p> <p>single-nucleus RNA sequencing, we characterized the transcriptome of 880,000 nuclei from 18 control and</p> <p>61 failing, nonischemic human hearts with pathogenic variants in DCM and ACM genes or idiopathic</p> <p>disease. We performed genotype-stratified analyses of the ventricular cell lineages and transcriptional</p> <p>states. The resultant DCM and ACM ventricular cell atlas demonstrated distinct right and left ventricular</p> <p>responses, highlighting genotype-associated pathways, intercellular interactions, and differential gene</p> <p>expression at single-cell resolution. Together, these data illuminate both shared and distinct cellular and</p> <p>molecular architectures of human heart failure and suggest candidate therapeutic targets.</p> <p> </p> <p>Link to article: https://www.science.org/doi/10.1126/science.abo1984</p> <p>To match Clinical information (supplementary information) with Sample IDs on Zenodo, please access the Excel table "Additional_note_samples.xlsx" on the github repository: https://github.com/heiniglab/DCM_heart_cell_atlas</p>
Cerebrovascular disease progression in patients with ACTA2 Arg179 pathogenic variants supplementary materials
<p><span><span><span><span><span><span><span><span><span><span><span>Our study entitled "Cerebrovascular disease progression in patients with ACTA2 Arg179 Pathogenic Variants" examines progression of imaging biomarkers of stroke, arterial steno-occlusive disease and white matter injury in patients with smooth muscle dysfunction syndrome caused by mutations in the ACTA2 gene (ACTA2 Arg179 pathogenic variants). We found characteristic patterns of acute white matter ischemic injury and progressive internal carotid artery stenosis on MRI. Longitudinal analysis showed both stable and progressive lesion entities. The data was collected on various scanner setups. To eliminate potential bias related to improving imaging technology we re-analyzed imaging markers for those patients with available longitudinal imaging on an identical scanner setups and present the data in supplementary table e-1. Supplementary table e-2 shows results of a comparison of imaging markers between male and female sex.</span></span></span></span></span></span></span></span></span></span></span></p>
dataset related to article "Pathogenic variants in ATP5F1B are associated with dominantly inherited dystonia" submitted to BRAIN
<p>Raw Data supporting results of the article mentioned at title: Images of JC-1 and mitotracker staining on fibroblasts from members of families A and B</p>
Comprehensive genomic analysis identifies a diverse landscape of sideroblastic and non-sideroblastic iron related anemias with novel and pathogenic variants in an iron deficient endemic setting
<p>The history for the 5 CMA cases are as follows:-</p> <p> </p> <p>1. <strong>HMA-2 </strong>:- 0.6 month male child presented with poor feeding and noted to have mild-moderate pallor. CBC showed Hemoglobin 9.0gm/dl, MCV- 58fl, MCH 17.3, MCHC 29, Iron 113 ug/dl, Ferritin 297 ug/l, TSAT-45%, TIBC-297 ug/dl, Hepcidin- 20.3ng/ml. No transfusions received and antenatal and neonatal history uneventful. HPLC (both parents), alpha sequencing normal. Targeted NGS shows a heterozygous VUS in GLRX5 gene along with a VUS in BMP6 gene. WES- Does not add anything further significant.</p> <p> </p> <p>2. <strong>HMA-3 </strong>:- 0.8 month male child with transfusion dependent microcytic hypochromic anemia and neurological developmental delay. Expired at 1 year of age due to secondary infection (acinetobacter and toxoplasmosis). Hb- 6.5, MCV-61.5, MCH-18.3, Iron 45 ug/dl, Ferritin 650. Targeted panel and WES - negative.</p> <p> </p> <p>3. <strong>HMA-4:</strong>- 5 year male child with severe microcytic hypochromic anemia and received just one transfusion outside. Has microcephaly and SNHL. Hb 5, MCV- 56, MCH- 18, MCHC- 23, Iron- 75, Ferritin - 330, TIBC- 290, TSAT- 41%. Targeted NGS and WES show a Homozygous VUS in BMP6 gene (? association?) </p> <p> </p> <p>4. <strong>HMA-6:-</strong> 2 year old male child with moderate microcytic hypochromic anemia and focal seizures. Hb -8, MCV- 58, MCH- 16, MCHC-27, Iron- 94, Ferritin -380, Transferrin levels- 10 (very low). Targeted NGS and WES show a single heterozygous VUS mutation in TF gene and another intrinsic rare variant but reported in pop. Database (could it make it compound her for atransferrinemia?) </p> <p> </p> <p>5. <strong>HMA-7:-</strong> 7 year male child with short stature, consanguinity in family, moderate macrocytic anemia with HB-7, MCV-113, Iron-55, Ferritin -209, TSAT-54%. Also Bone marrow shows coarse vacuolations in erythroid cells (12%) and 19% RS. Suspicion PMS- But MLPA for mitochondrial genome normal, no deletions. Targeted panel NGS and WES reveal a heterozygous VUS in LARS2 gene (? nature).</p> <p> </p>
Pathogenic Variants in Genes Associated With Lung Adenocarcinoma
ClinicalTrials.gov study NCT06181812. IPD Sharing: Not stated. Countries: 1. Publications: 9.
MRI-phenotyping of Patients With Pathogenic Anoctamin 5 Variants
ClinicalTrials.gov study NCT05102799. IPD Sharing: NO. Countries: 1. Publications: 9.
Ovarian Function and Gynecological Profile of Patients Carrying a Pathogenic Variant of the HNF1B Gene (GYN-HNF1)
ClinicalTrials.gov study NCT04746053. IPD Sharing: NO. Countries: 1. Publications: 3.
Cerebrovascular disease progression in patients with ACTA2 Arg179 pathogenic variants supplementary materials
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Data from: Identifying pathogenicity of human variants via paralog-based yeast complementation
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Carriers of a single cystic fibrosis transmembrane conductance regulator pathogenic variant and COVID-19 in pregnancy: A retrospective longitudinal cohort study
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Data from: Pathogenic effect of TP73 gene variants in people with amyotrophic lateral sclerosis
<p class="Paragraph"><b>Objective</b>: To identify novel disease associated loci for amyotrophic lateral sclerosis (ALS), we utilized sequencing data and performed <i>in vitro</i> and <i>in vivo</i> experiments to demonstrate pathogenicity of mutations identified in <i>TP73</i>.</p> <p class="Paragraph"><b>Methods</b>: We analyzed exome sequences of 87 sporadic ALS patients and 324 controls, with confirmatory sequencing in independent ALS cohorts of >2,800 patients. For the top hit, <i>TP73</i>, a regulator of apoptosis, differentiation, and a binding partner as well as homolog of the tumor suppressor gene <i>TP53,</i> we assayed mutation effects using <i>in vitro</i> and <i>in vivo</i> experiments. C2C12 myoblast differentiation assays, characterization of myotube appearance, and immunoprecipitation of p53-p73 complexes were perform <i>in vitro</i>. <i>In vivo</i>, we used CRISPR/Cas9 targeting of zebrafish <i>tp73</i> to assay motor neuron number and axon morphology.</p> <p class="Paragraph"><b>Results</b>: Four heterozygous rare, nonsynonymous mutations in <i>TP73</i> were identified in our sporadic ALS cohort. In independent ALS cohorts, we identified an additional 19 rare, deleterious variants in <i>TP73</i><i>. </i>Patient <i>TP73</i> mutations caused abnormal differentiation and increased apoptosis in the myoblast differentiation assay, with abnormal myotube appearance. Immunoprecipitation of mutant ΔN-p73 demonstrated that patient mutations hinder ΔN-p73's ability to bind p53. CRISPR/Cas9 knockout of <i>tp73</i> in zebrafish<i> </i>led to impaired motor neuron development and abnormal axonal morphology, concordant with ALS pathology. </p> <p class="Paragraph"><b>Conclusion</b>: Together, these results strongly suggest that variants in <i>TP73 </i>correlate with risk for ALS and indicate a novel role for apoptosis in ALS disease pathology.</p>
Pathogenic Variants in Homologous Recombination Repair Genes in Patients With Epithelial Ovarian Cancer
ClinicalTrials.gov study NCT04716374. IPD Sharing: NO. Countries: 0. Publications: 1.
Data from: Pathogenic effect of TP73 gene variants in people with amyotrophic lateral sclerosis
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MATR3 pathogenic variants differentially impair its cryptic splicing repression function
GEO Series GSE205343. Homo sapiens. 4 samples. Type: Expression profiling by high throughput sequencing.
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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.