Ontology highlight
ABSTRACT:
PROVIDER: PRJEB51008 | ENA |
REPOSITORIES: ENA
Dataset's files
| Action | DRS | |||
|---|---|---|---|---|
| EVAcemia2022GBHAvcf.vcf.gz | Vcf | |||
| EVAcemia2022GBHAvcf.vcf.gz.tbi | Vcf |
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Project description:Hereditary Angioedema (HAE) due to C1-inhibitor deficiency is a lifelong illness characterized by recurrent acute attacks of localized edema. Next to the identified role of dys-regulation in the kallikrein/bradykinin pathway at endothelial cell level, the involvement of circulating leucocytes (PBMC) in acute attacks is not yet clarified. To gain further insight into this process, we performed a PBMC microarray gene expression analysis on RNA isolated from patients with HAE comparing the transcriptome profile of acute attack with the remission phase.
2018-06-07 | E-MTAB-5897 | biostudies-arrayexpress
Project description:Exosomes were isolated from plasma of healthy donors (HD) and patients with hereditary angioedema (HAE). miRNA profiling of plasma-derived exosomes was performed using nCounter SPRINT system. miRNA levels were compared between HD and HAE patients.
2025-05-21 | GSE270837 | GEO
Project description:Hereditary angioedema (HAE) is a rare and potentially life-threatening disease. The pathogenesis of HAE is not well understood. Moreover, non-invasive disease biomarkers are strongly needed for early diagnosis and clinical management of HAE.
2023-09-18 | PXD045435 |
Project description:Hereditary angioedema (HAE) is a rare disease where known causes involve C1 inhibitor dysfunction or dysregulation of the kinin cascade. The updated HAE management guidelines recommend performing genetic tests to reach a precise diagnosis. Unfortunately, genetic tests are still uncommon in the diagnosis routine. Here, we characterized for the first time the genetic causes of HAE in affected families from the Canary Islands (Spain). Whole-exome sequencing data was obtained from 41 affected patients and unaffected relatives from 29 unrelated families identified in the archipelago. The Hereditary Angioedema Database Annotation (HADA) tool was used for pathogenicity classification and causal variant prioritization among the genes known to cause HAE. Manual reclassification of prioritized variants was used in those families lacking known causal variants. We detected a total of eight different variants causing HAE in this patient series, affecting essentially SERPING1 and F12 genes, one of them being a novel SERPING1 variant (c.686-12A>G) with a predicted splicing effect which was reclassified as likely pathogenic in one family. Altogether, the diagnostic yield by assessing previously reported causal genes and considering variant reclassifications according to the American College of Medical Genetics guidelines reached 66.7% (95% Confidence Interval [CI]: 30.1-91.0) in families with more than one affected member and 10.0% (95% CI: 1.8-33.1) among cases without family information for the disease. Despite the genetic causes of many patients remain to be identified, our results reinforce the need of genetic tests as first-tier diagnostic tool in this disease, as recommended by the international WAO/EAACI guidelines for the management of HAE.
| EGAS00001006547 | EGA
Project description:Genetic biomarkers in hereditary angioedema
2022-02-20 | PRJEB51008 | EVA
Project description:Animals with intracranial glioblastoma of the NS1 cells line were treated with anti-C1-INH +/- radiotherapy or were untreated control animals.
2022-10-19 | E-MTAB-12296 | biostudies-arrayexpress
Project description:Complement deficiencies are difficult to diagnose due to the variability of symptoms and the complexity of the diagnostic process. Here, we applied a novel ‘complementomics’ approach to study the impact of various complement deficiencies on circulating complement levels.
Using a quantitative multiplex mass spectrometry assay we analysed 44 peptides to profile 34 complement proteins simultaneously in 40 healthy controls and 83 individuals with a diagnosed deficiency or a potential pathogenic variant in 14 different complement proteins.
Apart from confirming near or total absence of the respective protein in plasma of complement deficient patients, this mass spectrometry based profiling method led to the identification of additional deficiencies. In many cases partial depletion of the pathway up- and/or downstream of the absent protein was measured. This was especially found in patients deficient for complement inhibitors, such as angioedema patients with a C1-inhibitor deficiency. The added value of complementomics was shown in three patients with poorly defined complement deficiencies.
Our study shows the potential clinical utility of profiling circulating complement proteins as a comprehensive read-oud of various complement deficiencies. Particularly, our approach provides insight into the intricate interplay between complement proteins due to functional coupling, which contributes to the better understanding of the various disease phenotypes and improvement of care for patients with complement-mediated diseases.
2020-12-09 | PXD022416 | panorama
Project description:miRNA profiling of plasma-derived exosomes in hereditary angioedema
| PRJNA1128611 | ENA
Project description:Combined anti-C1-INH and Radiotherapy against Glioblastoma
| PRJEB56861 | ENA
Project description:<p>The purpose of this study is to identify genetic predictors of ACE inhibitor-associated angioedema. In addition to preventing the formation of the pressor angiotensin II, ACE inhibitors prevent the carboxyl-terminal degradation of the vasoactive substances bradykinin and substance P. Angioedema is hypothesized to result from defective amino-terminal degradation of bradykinin or substance P in patients in whom ACE is inhibited. For example, activity of dipeptidyl peptidase IV (DPP-IV), the enzyme responsible for the inactivation of substance P when ACE is inhibited, is decreased in patients with angioedema. In preliminary studies, we have identified SNPs in the DPP4 gene that associate with DPP-IV activity and, in blacks, with risk of angioedema.</p> <p>This project will use genome-wide genotyping to compare 250 cases and 568 ACE inhibitor-exposed control subjects (131 cases and 288 controls ascertained at Vanderbilt and 70 cases and 280 controls ascertained at the Marshfield Clinic). We plan a 2-stage analysis of associations between SNPs and angioedema - first, we will study DPP4 SNPs for association with angioedema and, second, we will explore associations using the full GWAS data set. Depending on the platform, additional DPP4 SNPs will be used to fully tag common genetic variants in both African American and European American samples. Based on the HapMap data, there are 14 tagging SNPs in people of European descent and 34 in Yoruba (selection criteria MAF>0.05 and r2>0.8).</p> <p>Cases were defined as having ACE inhibitor-associated angioedema if they had had swelling of the lips, throat, tongue or face while taking an ACE inhibitor but had never had angioedema while not taking an ACE inhibitor. For simplicity, intestinal edema was excluded. Control subjects were treated for at least 6 months with an ACE inhibitor without angioedema. Because black Americans are known to be overrepresented among patients with ACE inhibitor-associated angioedema, control subjects were prespecified to be 50% black American, 50% white American, and 50% female. At Vanderbilt, the medical history, including the history of angioedema, was confirmed by a research nurse or physician using a detailed case report form. Characteristics of Vanderbilt cases appear in the Table. At Marshfield, medical history will be confirmed by chart review. The Marshfield cohort is 98% white American and 57% female with a mean age of 47.2 years.</p>
| phs000438 | dbGaP