Matches in SemOpenAlex for { <https://semopenalex.org/work/W3005143104> ?p ?o ?g. }
Showing items 1 to 94 of
94
with 100 items per page.
- W3005143104 endingPage "497" @default.
- W3005143104 startingPage "493" @default.
- W3005143104 abstract "Haploinsufficiency of A20 (HA20) due to loss-of-function mutations of TNFAIP3 leads to an autoinflammatory disease. These mutations produce a premature termination codon in most cases of HA20. However, exon deletion has not been reported.Genomic DNA was extracted from the peripheral blood of the patient clinically suspected of HA20. We examined autoinflammatory disease-causing genes and performed a multiplex ligation-dependent probe amplification (MLPA) assay for copy number analysis. Next, to determine the disconnection point, genomic DNA was amplified with long-range PCR and sequenced. Finally, western blotting was carried out to measure A20 protein expression in mitogen phytohaemagglutinin (PHA)-induced T-cell blasts from the patient and a healthy volunteer.Targeted next-generation sequencing found no pathogenic mutation, but copy number variation (CNV) analysis suggested a heterozygous deletion of exons 2-3. The MLPA assay and long-range PCR confirmed the mutation. Western blotting analysis indicated a marked decrease in expression of A20 protein from the patient compared to a normal control. The results showed that this deletion was a pathogenic mutation.This study demonstrates a novel mutation resulting in a deletion of exons 2-3 of TNFAIP3. MLPA analysis is a useful initial screening method for HA20 patients." @default.
- W3005143104 created "2020-02-14" @default.
- W3005143104 creator A5004992728 @default.
- W3005143104 creator A5017397091 @default.
- W3005143104 creator A5061116822 @default.
- W3005143104 creator A5066670738 @default.
- W3005143104 creator A5066821710 @default.
- W3005143104 creator A5073513470 @default.
- W3005143104 creator A5081250273 @default.
- W3005143104 date "2020-02-03" @default.
- W3005143104 modified "2023-10-14" @default.
- W3005143104 title "Haploinsufficiency of A20 with a novel mutation of deletion of exons 2–3 of <i>TNFAIP3</i>" @default.
- W3005143104 cites W1962511056 @default.
- W3005143104 cites W2117212747 @default.
- W3005143104 cites W2194309244 @default.
- W3005143104 cites W2346646709 @default.
- W3005143104 cites W2505081439 @default.
- W3005143104 cites W2555081959 @default.
- W3005143104 cites W2771216575 @default.
- W3005143104 cites W2782911007 @default.
- W3005143104 cites W2793106634 @default.
- W3005143104 cites W2802010329 @default.
- W3005143104 cites W2806201218 @default.
- W3005143104 cites W2921788210 @default.
- W3005143104 cites W2948184955 @default.
- W3005143104 cites W2948992588 @default.
- W3005143104 doi "https://doi.org/10.1080/14397595.2020.1719595" @default.
- W3005143104 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32011208" @default.
- W3005143104 hasPublicationYear "2020" @default.
- W3005143104 type Work @default.
- W3005143104 sameAs 3005143104 @default.
- W3005143104 citedByCount "6" @default.
- W3005143104 countsByYear W30051431042020 @default.
- W3005143104 countsByYear W30051431042021 @default.
- W3005143104 countsByYear W30051431042022 @default.
- W3005143104 countsByYear W30051431042023 @default.
- W3005143104 crossrefType "journal-article" @default.
- W3005143104 hasAuthorship W3005143104A5004992728 @default.
- W3005143104 hasAuthorship W3005143104A5017397091 @default.
- W3005143104 hasAuthorship W3005143104A5061116822 @default.
- W3005143104 hasAuthorship W3005143104A5066670738 @default.
- W3005143104 hasAuthorship W3005143104A5066821710 @default.
- W3005143104 hasAuthorship W3005143104A5073513470 @default.
- W3005143104 hasAuthorship W3005143104A5081250273 @default.
- W3005143104 hasConcept C104317684 @default.
- W3005143104 hasConcept C120599132 @default.
- W3005143104 hasConcept C127716648 @default.
- W3005143104 hasConcept C153911025 @default.
- W3005143104 hasConcept C163565370 @default.
- W3005143104 hasConcept C176944494 @default.
- W3005143104 hasConcept C17757408 @default.
- W3005143104 hasConcept C29906990 @default.
- W3005143104 hasConcept C36823959 @default.
- W3005143104 hasConcept C501734568 @default.
- W3005143104 hasConcept C54355233 @default.
- W3005143104 hasConcept C68838962 @default.
- W3005143104 hasConcept C71924100 @default.
- W3005143104 hasConcept C86803240 @default.
- W3005143104 hasConceptScore W3005143104C104317684 @default.
- W3005143104 hasConceptScore W3005143104C120599132 @default.
- W3005143104 hasConceptScore W3005143104C127716648 @default.
- W3005143104 hasConceptScore W3005143104C153911025 @default.
- W3005143104 hasConceptScore W3005143104C163565370 @default.
- W3005143104 hasConceptScore W3005143104C176944494 @default.
- W3005143104 hasConceptScore W3005143104C17757408 @default.
- W3005143104 hasConceptScore W3005143104C29906990 @default.
- W3005143104 hasConceptScore W3005143104C36823959 @default.
- W3005143104 hasConceptScore W3005143104C501734568 @default.
- W3005143104 hasConceptScore W3005143104C54355233 @default.
- W3005143104 hasConceptScore W3005143104C68838962 @default.
- W3005143104 hasConceptScore W3005143104C71924100 @default.
- W3005143104 hasConceptScore W3005143104C86803240 @default.
- W3005143104 hasIssue "2" @default.
- W3005143104 hasLocation W30051431041 @default.
- W3005143104 hasLocation W30051431042 @default.
- W3005143104 hasOpenAccess W3005143104 @default.
- W3005143104 hasPrimaryLocation W30051431041 @default.
- W3005143104 hasRelatedWork W1979176079 @default.
- W3005143104 hasRelatedWork W1981549375 @default.
- W3005143104 hasRelatedWork W1984184070 @default.
- W3005143104 hasRelatedWork W1991231998 @default.
- W3005143104 hasRelatedWork W1996877114 @default.
- W3005143104 hasRelatedWork W2035919360 @default.
- W3005143104 hasRelatedWork W2252798758 @default.
- W3005143104 hasRelatedWork W2419448289 @default.
- W3005143104 hasRelatedWork W2463255931 @default.
- W3005143104 hasRelatedWork W3005143104 @default.
- W3005143104 hasVolume "31" @default.
- W3005143104 isParatext "false" @default.
- W3005143104 isRetracted "false" @default.
- W3005143104 magId "3005143104" @default.
- W3005143104 workType "article" @default.