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518
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ShareScore release 0.9.0
Dataset results
518 results for “Hereditary”
Rescue of lysosomal function as therapeutic strategy for SPG15 hereditary spastic paraplegia
<p>Raw data from the research article "Rescue of lysosomal function as therapeutic strategy for SPG15 hereditary spastic paraplegia".</p>
datset related to article "PATHOLOGICAL MITOPHAGY DISRUPTS MITOCHONDRIAL HOMEOSTASIS IN LEBER'S HEREDITARY OPTIC NEUROPATHY"
<p><strong>Raw data from Pathological mitophagy disrupts mitochondrial homeostasis in Leber’s hereditary optic neuropathy – experiments of</strong> <strong>mito-autophagy present in specific regions of the idNeurons (soma and axon-dendrite (Ax-De) regions) </strong></p>
Post Study Access of CSL312 (Garadacimab) for Pediatric Participants With Hereditary Angioedema Who Have Completed the CSL312_3003 Study
ClinicalTrials.gov study NCT07159464. IPD Sharing: Not stated. Countries: 0. Publications: 0.
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.
Studies of Hereditary Hemorrhagic Telangiectasia
ClinicalTrials.gov study NCT00004648. IPD Sharing: Not stated. Countries: 0. Publications: 0.
Study With Idebenone in Patients With Chronic Vision Loss Due to Leber's Hereditary Optic Neuropathy (LHON)
ClinicalTrials.gov study NCT01495715. IPD Sharing: Not stated. Countries: 0. Publications: 0.
Donidalorsen Expanded Access Program for Patients With Hereditary Angioedema
ClinicalTrials.gov study NCT06415448. IPD Sharing: Not stated. Countries: 0. Publications: 0.
Expanded Access Program for Idebenone in Patients With Leber's Hereditary Optic Neuropathy Who Completed the LEROS Study
ClinicalTrials.gov study NCT04381091. IPD Sharing: Not stated. Countries: 0. Publications: 0.
Induced Endothelial Cell Cycle Arrest Prevents Arterio-venous Malformations in Hereditary Hemorrhagic Telangiectasia
GEO Series GSE244923. Mus musculus. 4 samples. Type: Expression profiling by high throughput sequencing.
Preimplantation Genetic Testing Analysis for a Chinese Family with Hereditary Spherocytosis Caused by a Novel Splicing Variant of SPTB
GEO Series GSE242733. Homo sapiens. 7 samples. Type: Genome variation profiling by SNP array.
Comparison between hereditary breast tumors and normal breast tissue samples.
GEO Series GSE32922. Homo sapiens; Human alphaherpesvirus 1; Human betaherpesvirus 5; human gammaherpesvirus 4; Betapolyomavirus macacae; Rattus norvegicus; Murid gammaherpesvirus 4; Betapolyomavirus hominis; Mus musculus; Murid betaherpesvirus 1; JC polyomavirus; Human immunodeficiency virus 1; Human gammaherpesvirus 8. 38 samples. Type: Non-coding RNA profiling by array.
DPYS as a potential diagnostic biomarker in hereditary and sporadic PRCC2
GEO Series GSE48352. Homo sapiens. 32 samples. Type: Expression profiling by array.
Novel Bi-Allelic Variants in RINT1 Presenting As Early-Onset Pure Hereditary Spastic Paraplegia
GEO Series GSE270806. Homo sapiens. 2 samples. Type: Expression profiling by high throughput sequencing.
miRNA profiling of plasma-derived exosomes in hereditary angioedema
GEO Series GSE270837. Homo sapiens. 22 samples. Type: Non-coding RNA profiling by array.
Hereditary Spastic Paraparesis
GEO Series GSE1300. Homo sapiens. 7 samples. Type: Expression profiling by array.
Analysis of heart-rate variability during angioedema attacks in patients with hereditary c1-inhibitor deficiency
<p>Database from the article Perego F, De Maria B, Bova M, Petraroli A, Marcelli Cesoni A, De Grazia V, Zingale LC, Porta A, Spadaro G, Dalla Vecchia LA. Analysis of Heart-Rate Variability during Angioedema Attacks in Patients with Hereditary C1-Inhibitor Deficiency. Int J Environ Res Public Health. 2021 Mar 12;18(6):2900. doi: 10.3390/ijerph18062900. PMID: 33809031; PMCID: PMC8002127.</p> <p>Abstract</p> <p>C1-inhibitor hereditary angioedema (C1-INH-HAE) is a rare disease characterized by self-limiting edema associated with localized vasodilation due to increased levels of circulating bradykinin. C1-INH-HAE directly influences patients' everyday lives, as attacks are unpredictable in frequency, severity, and the involved anatomical site. The autonomic nervous system could be involved in remission. The cardiac autonomic profile has not yet been evaluated during the attack or prodromal phases. In this study, a multiday continuous electrocardiogram was obtained in four C1-INH-HAE patients until attack occurrence. Power spectral heart rate variability (HRV) indices were computed over the 4 h preceding the attack and during the first 4 h of the attack in three patients. Increased vagal modulation of the sinus node was detected in the prodromal phase. This finding may reflect localized vasodilation mediated by the release of bradykinin. HRV analysis may furnish early markers of an impending angioedema attack, thereby helping to identify patients at higher risk of attack recurrence. In this perspective, it could assist in the timing, titration, and optimization of prophylactic therapy, and thus improve patients' quality of life.</p>
Dataset related to article "Prevalence of Germline Mutations in Cancer Predisposition Genes in Patients with Pancreatic Cancer or Suspected Related Hereditary Syndromes: Historical Prospective Analysis"
<p>This record contains raw data related to article "Prevalence of Germline Mutations in Cancer Predisposition Genes in Patients with Pancreatic Cancer or Suspected Related Hereditary Syndromes: Historical Prospective Analysis"</p><p> Abstract</p><p>We investigate the prevalence of germline mutations in cancer predisposition genes in patients with pancreatic ductal adenocarcinoma (PDAC) or suspected related hereditary syndromes.</p><p>Methods: we enrolled for NGS with an Illumina TrueSight Cancer panel comprising 19 CPGs and 113 consecutive subjects referred to cancer genetic clinics for metastatic PDAC, early onset PDAC, suspected hereditary syndrome, or positive family history.</p><p>Results: Overall, 23 (20.1%) subjects were carriers of 24 pathogenetic variants (PVs). We found 9 variants in BRCA2 (37.5%), 6 in CDKN2A (25%), 3 in ATM (12.5%), 2 in BRCA1 (8.3%), 1 in CHEK2 (4.1%), 1 in PALB2 (4.1%), 1 in MITF (4.1%), and 1 in FANCM (4.1%). A double PV (BRCA1 plus BRCA2) was found in 1 subject. We observed a nearly 30% (16/55) mutational rate in the subgroup of subjects tested for the suspected syndromes (PDAC and other synchronous or metachronous tumors or an indicative family history), and the frequency was significantly higher than that in patients with only metastatic PDAC (p = 0.05). In our cohort, 39 variants of unknown significance (VUS) were identified, most of which (16/39, 41%) in genes belonging to the Lynch syndrome spectrum.</p><p>Conclusion: A clinically relevant proportion of pancreatic cancer is associated with mutations in known predisposition genes. Guidelines instructing on an adequate selection for accessing genetic testing are eagerly needed. The heterogeneity of mutations identified in this study reinforces the value of using a multiple-gene panel in pancreatic cancer.</p><p> </p>
Expanded Access for Hereditary Angioedema (HAE)
ClinicalTrials.gov study NCT03177005. IPD Sharing: Not stated. Countries: 0. 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.