Matches in SemOpenAlex for { <https://semopenalex.org/work/W4385012364> ?p ?o ?g. }
Showing items 1 to 82 of
82
with 100 items per page.
- W4385012364 abstract "To analyze genetic mechanisms triggering familial sarcoidosis, whole exome screening of a family of six persons with four cases of sarcoidosis and two healthy controls was performed integrating progressive and spontaneous remission cases and evaluating involved genetic alterations that could potentially determine the individual course of the disease.Clinical diagnosis criteria in patients of the selected sarcoidosis family were according to American Thoracic Society/European Respiratory Society/World Association of Sarcoidosis and other Granulomatous Disorders guidelines [1]. Exome screening of four patients and the two intrafamilial healthy relatives was performed by a paired-end (2 × 100 bp) sequencing using a NovaSeq 6000 (Illumina, San Diego, CA). We then selected the gene variants considered pathogenic on the basis of a series of prediction software and present only in subjects affected by sarcoidosis of the family, after subtracting the common variations observed in healthy subjects.Four persons out of six family members were affected by sarcoidosis. 50 genes with uncommon in silico pathogenic variants could be identified that differentiated affected and healthy family members. One patient with sarcoidosis showed spontaneous remission whereas the remaining three patients required immunosuppressive treatment. Subtraction analysis revealed 18 genes that distinguished the three progressive cases from the patient with spontaneous remission.The genetic analysis of these cases with familial sarcoidosis identified several involved genes and functional pathways that could help to understand the basic mechanisms that determine the development of the disease and that discriminate spontaneously regressive and progressive forms." @default.
- W4385012364 created "2023-07-22" @default.
- W4385012364 creator A5057077290 @default.
- W4385012364 creator A5066895083 @default.
- W4385012364 creator A5077307974 @default.
- W4385012364 creator A5077388367 @default.
- W4385012364 creator A5079831828 @default.
- W4385012364 date "2023-07-21" @default.
- W4385012364 modified "2023-09-24" @default.
- W4385012364 title "Whole exome sequencing of a German sarcoidosis family with four affected and one spontaneous remission case" @default.
- W4385012364 cites W1871499212 @default.
- W4385012364 cites W1973816290 @default.
- W4385012364 cites W2120760858 @default.
- W4385012364 cites W2545621746 @default.
- W4385012364 cites W2623946680 @default.
- W4385012364 cites W2787559752 @default.
- W4385012364 cites W2807891442 @default.
- W4385012364 cites W2810725227 @default.
- W4385012364 cites W2904888480 @default.
- W4385012364 cites W2942324939 @default.
- W4385012364 cites W3007715646 @default.
- W4385012364 cites W3015330439 @default.
- W4385012364 cites W3048759655 @default.
- W4385012364 cites W3095634808 @default.
- W4385012364 cites W3119784113 @default.
- W4385012364 cites W3141251867 @default.
- W4385012364 cites W3145969289 @default.
- W4385012364 cites W3159005385 @default.
- W4385012364 cites W4211032738 @default.
- W4385012364 doi "https://doi.org/10.1093/rheumatology/kead349" @default.
- W4385012364 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37478346" @default.
- W4385012364 hasPublicationYear "2023" @default.
- W4385012364 type Work @default.
- W4385012364 citedByCount "0" @default.
- W4385012364 crossrefType "journal-article" @default.
- W4385012364 hasAuthorship W4385012364A5057077290 @default.
- W4385012364 hasAuthorship W4385012364A5066895083 @default.
- W4385012364 hasAuthorship W4385012364A5077307974 @default.
- W4385012364 hasAuthorship W4385012364A5077388367 @default.
- W4385012364 hasAuthorship W4385012364A5079831828 @default.
- W4385012364 hasConcept C104317684 @default.
- W4385012364 hasConcept C10590036 @default.
- W4385012364 hasConcept C126322002 @default.
- W4385012364 hasConcept C16671776 @default.
- W4385012364 hasConcept C2778674544 @default.
- W4385012364 hasConcept C2779134260 @default.
- W4385012364 hasConcept C2781301800 @default.
- W4385012364 hasConcept C501734568 @default.
- W4385012364 hasConcept C54355233 @default.
- W4385012364 hasConcept C69991583 @default.
- W4385012364 hasConcept C71924100 @default.
- W4385012364 hasConcept C86803240 @default.
- W4385012364 hasConceptScore W4385012364C104317684 @default.
- W4385012364 hasConceptScore W4385012364C10590036 @default.
- W4385012364 hasConceptScore W4385012364C126322002 @default.
- W4385012364 hasConceptScore W4385012364C16671776 @default.
- W4385012364 hasConceptScore W4385012364C2778674544 @default.
- W4385012364 hasConceptScore W4385012364C2779134260 @default.
- W4385012364 hasConceptScore W4385012364C2781301800 @default.
- W4385012364 hasConceptScore W4385012364C501734568 @default.
- W4385012364 hasConceptScore W4385012364C54355233 @default.
- W4385012364 hasConceptScore W4385012364C69991583 @default.
- W4385012364 hasConceptScore W4385012364C71924100 @default.
- W4385012364 hasConceptScore W4385012364C86803240 @default.
- W4385012364 hasFunder F4320315367 @default.
- W4385012364 hasLocation W43850123641 @default.
- W4385012364 hasLocation W43850123642 @default.
- W4385012364 hasOpenAccess W4385012364 @default.
- W4385012364 hasPrimaryLocation W43850123641 @default.
- W4385012364 hasRelatedWork W1964573065 @default.
- W4385012364 hasRelatedWork W2011386065 @default.
- W4385012364 hasRelatedWork W2038536733 @default.
- W4385012364 hasRelatedWork W2106588029 @default.
- W4385012364 hasRelatedWork W2117897636 @default.
- W4385012364 hasRelatedWork W2279877056 @default.
- W4385012364 hasRelatedWork W2783234610 @default.
- W4385012364 hasRelatedWork W2888689224 @default.
- W4385012364 hasRelatedWork W2951249912 @default.
- W4385012364 hasRelatedWork W3042213016 @default.
- W4385012364 isParatext "false" @default.
- W4385012364 isRetracted "false" @default.
- W4385012364 workType "article" @default.