FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2950871254> ?p ?o ?g. }

• W2950871254 abstract "ABSTRACT Primary immunodeficiencies (PIDs) are a heterogeneous group of inherited disorders, frequently caused by loss-of-function and less commonly by gain-of-function mutations, which can result in susceptibility to a broad or a very narrow range of infections but also in inflammatory, allergic or malignant diseases. Owing to the wide range in clinical manifestations and variability in penetrance and expressivity, there is an urgent need to better understand the underlying molecular, cellular and immunological phenotypes in PID patients in order to improve clinical diagnosis and management. Here we have compiled a manually curated collection of public transcriptome datasets mainly obtained from human whole blood, peripheral blood mononuclear cells (PBMCs) or fibroblasts of patients with PIDs and of control subjects for subsequent meta-analysis, query and interpretation. A total of nineteen (19) datasets derived from studies of PID patients were identified and retrieved from the NCBI Gene Expression Omnibus (GEO) database and loaded in GXB, a custom web application designed for interactive query and visualization of integrated large-scale data. The dataset collection includes samples from well characterized PID patients that were stimulated ex vivo under a variety of conditions to assess the molecular consequences of the underlying, naturally occurring gene defects on a genome-wide scale. Multiple sample groupings and rank lists were generated to facilitate comparisons of the transcriptional responses between different PID patients and control subjects. The GXB tool enables browsing of a single transcript across studies, thereby providing new perspectives on the role of a given molecule across biological systems and PID patients. This dataset collection is available at: http://pid.gxbsidra.org/dm3/geneBrowser/list ." @default.
• W2950871254 created "2019-06-27" @default.
• W2950871254 creator A5022563979 @default.
• W2950871254 creator A5052314657 @default.
• W2950871254 creator A5060691242 @default.
• W2950871254 creator A5089464486 @default.
• W2950871254 date "2019-02-01" @default.
• W2950871254 modified "2023-09-27" @default.
• W2950871254 title "A curated transcriptome dataset collection to investigate inborn errors of immunity" @default.
• W2950871254 cites W1571809641 @default.
• W2950871254 cites W1968701038 @default.
• W2950871254 cites W1972335806 @default.
• W2950871254 cites W1977853360 @default.
• W2950871254 cites W2005377557 @default.
• W2950871254 cites W2035656344 @default.
• W2950871254 cites W2047865956 @default.
• W2950871254 cites W2072367332 @default.
• W2950871254 cites W2097550991 @default.
• W2950871254 cites W2105275733 @default.
• W2950871254 cites W2117403402 @default.
• W2950871254 cites W2123586959 @default.
• W2950871254 cites W2131987313 @default.
• W2950871254 cites W2136678404 @default.
• W2950871254 cites W2141040025 @default.
• W2950871254 cites W2170072500 @default.
• W2950871254 cites W2220760349 @default.
• W2950871254 cites W2232340987 @default.
• W2950871254 cites W2279383360 @default.
• W2950871254 cites W2319341207 @default.
• W2950871254 cites W2343976655 @default.
• W2950871254 cites W2490698663 @default.
• W2950871254 cites W2547879761 @default.
• W2950871254 cites W2569442829 @default.
• W2950871254 cites W2736961920 @default.
• W2950871254 cites W2766312457 @default.
• W2950871254 cites W2774329900 @default.
• W2950871254 cites W2917335258 @default.
• W2950871254 cites W4236391547 @default.
• W2950871254 doi "https://doi.org/10.1101/526004" @default.
• W2950871254 hasPublicationYear "2019" @default.
• W2950871254 type Work @default.
• W2950871254 sameAs 2950871254 @default.
• W2950871254 citedByCount "0" @default.
• W2950871254 crossrefType "posted-content" @default.
• W2950871254 hasAuthorship W2950871254A5022563979 @default.
• W2950871254 hasAuthorship W2950871254A5052314657 @default.
• W2950871254 hasAuthorship W2950871254A5060691242 @default.
• W2950871254 hasAuthorship W2950871254A5089464486 @default.
• W2950871254 hasBestOaLocation W29508712541 @default.
• W2950871254 hasConcept C104317684 @default.
• W2950871254 hasConcept C120821319 @default.
• W2950871254 hasConcept C127716648 @default.
• W2950871254 hasConcept C141231307 @default.
• W2950871254 hasConcept C150194340 @default.
• W2950871254 hasConcept C162317418 @default.
• W2950871254 hasConcept C200544954 @default.
• W2950871254 hasConcept C54355233 @default.
• W2950871254 hasConcept C60644358 @default.
• W2950871254 hasConcept C70721500 @default.
• W2950871254 hasConcept C71924100 @default.
• W2950871254 hasConcept C86803240 @default.
• W2950871254 hasConcept C92811239 @default.
• W2950871254 hasConceptScore W2950871254C104317684 @default.
• W2950871254 hasConceptScore W2950871254C120821319 @default.
• W2950871254 hasConceptScore W2950871254C127716648 @default.
• W2950871254 hasConceptScore W2950871254C141231307 @default.
• W2950871254 hasConceptScore W2950871254C150194340 @default.
• W2950871254 hasConceptScore W2950871254C162317418 @default.
• W2950871254 hasConceptScore W2950871254C200544954 @default.
• W2950871254 hasConceptScore W2950871254C54355233 @default.
• W2950871254 hasConceptScore W2950871254C60644358 @default.
• W2950871254 hasConceptScore W2950871254C70721500 @default.
• W2950871254 hasConceptScore W2950871254C71924100 @default.
• W2950871254 hasConceptScore W2950871254C86803240 @default.
• W2950871254 hasConceptScore W2950871254C92811239 @default.
• W2950871254 hasLocation W29508712541 @default.
• W2950871254 hasLocation W29508712542 @default.
• W2950871254 hasOpenAccess W2950871254 @default.
• W2950871254 hasPrimaryLocation W29508712541 @default.
• W2950871254 hasRelatedWork W2077560413 @default.
• W2950871254 hasRelatedWork W2130656920 @default.
• W2950871254 hasRelatedWork W2158668252 @default.
• W2950871254 hasRelatedWork W2518901523 @default.
• W2950871254 hasRelatedWork W2969095106 @default.
• W2950871254 hasRelatedWork W3188598008 @default.
• W2950871254 hasRelatedWork W3200603419 @default.
• W2950871254 hasRelatedWork W4224439911 @default.
• W2950871254 hasRelatedWork W4225117392 @default.
• W2950871254 hasRelatedWork W9067273 @default.
• W2950871254 isParatext "false" @default.
• W2950871254 isRetracted "false" @default.
• W2950871254 magId "2950871254" @default.
• W2950871254 workType "article" @default.