a1fd27abd933a6826299ee5b8563ba40 JEM_20240699.pdf e9608e60baf78635b696f574689836d987e05510 JEM_20240699.pdf 20d1797f8b710813774d5141376e1302fdd9ac1776ee4f9226f6075ef2dd88f8 JEM_20240699.pdf Title: untitled Creator: Arbortext Advanced Print Publisher 9.1.510/W Unicode Producer: Acrobat Distiller 10.0.0 (Windows) CreationDate: Sat Nov 23 06:25:34 2024 CET ModDate: Sat Nov 23 14:21:01 2024 CET Custom Metadata: no Metadata Stream: yes Tagged: no UserProperties: no Suspects: no Form: none JavaScript: no Pages: 31 Encrypted: no Page size: 612 x 792 pts (letter) Page rot: 0 File size: 6457139 bytes Optimized: yes PDF version: 1.6 name type encoding emb sub uni object ID ------------------------------------ ----------------- ---------------- --- --- --- --------- PPJGFH+AdvOT980d06c8.B Type 1C WinAnsi yes yes no 1451 0 PPJGFI+AdvOT024b927e Type 1C WinAnsi yes yes no 1453 0 PPJGFJ+AdvOT024b927e+20 Type 1C WinAnsi yes yes no 1454 0 PPJGFK+AdvOTd877c31c+22 Type 1C Custom yes yes yes 1459 0 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TrueType WinAnsi yes yes yes 960 0 ITFNSH+Aptos TrueType WinAnsi yes yes yes 967 0 VPTSSH+Aptos CID TrueType Identity-H yes yes yes 971 0 WBBTGF+ArialMT TrueType WinAnsi yes yes yes 976 0 Jhove (Rel. 1.28.0, 2023-05-18) Date: 2025-07-22 02:08:01 CEST RepresentationInformation: JEM_20240699.pdf ReportingModule: PDF-hul, Rel. 1.12.4 (2023-03-16) LastModified: 2025-07-21 18:31:21 CEST Size: 6457139 Format: PDF Version: 1.6 Status: Well-Formed and valid SignatureMatches: PDF-hul MIMEtype: application/pdf Profile: Linearized PDF PDFMetadata: Objects: 1626 FreeObjects: 1 IncrementalUpdates: 1 DocumentCatalog: PageLayout: SinglePage PageMode: UseNone Language: English Outlines: Item: Title: Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS Destination: titlink1 Children: Item: Title: Introduction Destination: flink1 Item: Title: Results Destination: flink2 Children: Item: Title: Characterization of the MIS Destination: slink1 Item: Title: Gene burden testing Destination: slink2 Item: Title: Increased rare variant burden in BTNL8 Destination: slink3 Item: Title: BTNL8 burden is not found in COVID Destination: slink4 Item: Title: BTNL8 burden is specific to MIS Destination: slink5 Item: Title: Population genetics of BTNL8 variation Destination: slink6 Item: Title: Protein domain burden testing Destination: slink7 Item: Title: Validation of B30.2 BTNL8 rare variant burden in independent MIS Destination: slink8 Item: Title: Identification of variants for functional validation Destination: slink9 Item: Title: Structural modeling of BTNL8/BTNL3 Destination: slink10 Item: Title: Protein expression of BTNL8 variants Destination: slink11 Item: Title: Assessing functional impact of BTNL8 variants Destination: slink12 Item: Title: BTNL8 expression in whole blood Destination: slink13 Item: Title: BTNL8 expression upon stimulation of whole blood Destination: slink14 Item: Title: Potential role of intestinal immunity and BTNL8 in MIS Destination: slink15 Item: Title: Discussion Destination: flink3 Item: Title: Materials and methods Destination: flink4 Children: Item: Title: Human experimental guidelines approval statement Destination: slink16 Item: Title: Patients Destination: slink17 Item: Title: WES Destination: slink18 Item: Title: WES processing Destination: slink19 Item: Title: Empirical burden testing Destination: slink20 Item: Title: burdenMC Destination: slink21 Item: Title: Variant filtering strategies Destination: slink22 Children: Item: Title: Population-derived filters Destination: sslink1 Item: Title: Genomic complexity filters Destination: sslink2 Item: Title: Cohort-derived filters Destination: sslink3 Item: Title: Output annotations Destination: sslink4 Item: Title: Linkage disequilibrium (LD) pruning Destination: slink23 Item: Title: Effect size calculation Destination: slink24 Item: Title: Transient transfection of BTNL8 and flow cytometry Destination: slink25 Item: Title: QuantiFERON assay and RNA Destination: slink26 Item: Title: RNA Destination: slink27 Item: Title: Protein structure modeling Destination: slink28 Item: Title: Proteomic analysis Destination: slink29 Item: Title: Online supplemental material Destination: slink30 Item: Title: Acknowledgments Destination: flink5 Item: Title: References Destination: rlink1 Item: Title: Outline placeholder Destination: unknown Children: Item: Title: Supplemental material Destination: flink1 Children: Item: Title: Outline placeholder Destination: unknown Children: Item: Title: Provided online are Table S1, Table S2, Table S3, Table S4, Table S5, Table S6, Table S7, and Table S8. Table S1 shows the ... 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Subtype: Link Rect: 432, 21, 557, 29 Page: Label: 1 Sequence: 22 Annotations: Annotation: Subtype: Link Rect: 432, 21, 557, 29 Page: Label: 2 Sequence: 23 Annotations: Annotation: Subtype: Link Rect: 432, 21, 557, 29 Page: Label: 3 Sequence: 24 Annotations: Annotation: Subtype: Link Rect: 432, 21, 557, 29 Page: Label: 4 Sequence: 25 Annotations: Annotation: Subtype: Link Rect: 432, 21, 557, 29 Page: Label: 5 Sequence: 26 Annotations: Annotation: Subtype: Link Rect: 432, 21, 557, 29 Page: Label: 6 Sequence: 27 Annotations: Annotation: Subtype: Link Rect: 432, 21, 557, 29 Page: Label: 7 Sequence: 28 Annotations: Annotation: Subtype: Link Rect: 432, 21, 557, 29 Page: Label: 8 Sequence: 29 Page: Label: 9 Sequence: 30 Page: Label: 10 Sequence: 31 Checksum: 6ab95c6c Type: CRC32 Checksum: a1fd27abd933a6826299ee5b8563ba40 Type: MD5 Checksum: e9608e60baf78635b696f574689836d987e05510 Type: SHA-1 Checksum: 20d1797f8b710813774d5141376e1302fdd9ac1776ee4f9226f6075ef2dd88f8 Type: SHA-256