2022
RIPK1 mutations causing infantile-onset IBD with inflammatory and fistulizing features
Sultan M, Adawi M, Kol N, McCourt B, Adawi I, Baram L, Tal N, Werner L, Lev A, Snapper S, Barel O, Konnikova L, Somech R, Shouval D. RIPK1 mutations causing infantile-onset IBD with inflammatory and fistulizing features. Frontiers In Immunology 2022, 13: 1041315. PMID: 36466854, PMCID: PMC9716469, DOI: 10.3389/fimmu.2022.1041315.Peer-Reviewed Original ResearchConceptsInfantile-onset inflammatory bowel diseaseReceptor-interacting serine/threonine-protein kinase 1Serine/threonine-protein kinase 1Peripheral blood mononuclear cellsRole of RIPK1Immune cellsMultiple cell typesRIPK1 deficiencyKinase domainCrohn's diseasePatient 1Patient 2Perianal fistulasT cellsGenetic analysisProtein modelingKinase 1B cellsGenetic studiesAllogeneic hematopoietic stem cell transplantationPatients' peripheral blood mononuclear cellsImportant regulatorHematopoietic stem cell transplantationPathogenic genetic variantsCell types
2021
Serum Analyte Profiles Associated With Crohn’s Disease and Disease Location
Boucher G, Paradis A, Chabot-Roy G, Coderre L, Hillhouse E, Bitton A, Rosiers C, Levings M, Schumm L, Lazarev M, Brant S, Duerr R, McGovern D, Silverberg M, Cho J, Lesage S, Rioux J, Bitton A, Boucher G, Charron G, Rosiers C, Forest A, Goyette P, Ivinson S, Joseph L, Kohen R, Lachaine J, Lesage S, Levings M, Rioux J, Thompson-Legault J, Vachon L, Veilleux S, White-Guay B, Bajpai M, Birch S, Bitton A, Borowski K, Botwin G, Boucher G, Brant S, Chen W, Cho J, Cordero R, Côté-Daigneault J, Daly M, Datta L, Duerr R, Filice M, Fleshner P, Gettler K, Giri M, Goyette P, Hao K, Haritunians T, Itan Y, Johnston E, Konnikova L, Landers C, Lazarev M, Li D, McGovern D, Mengesha E, Merad M, Miladinova V, Nayeri S, Proksell S, Raquel M, Rioux J, Rymaszewski K, Sabic K, Sands B, Schumm L, Schwartz M, Silverberg M, Simpson C, Stempak J, Stevens C, Targan S, Xavier R. Serum Analyte Profiles Associated With Crohn’s Disease and Disease Location. Inflammatory Bowel Diseases 2021, 28: 9-20. PMID: 34106269, PMCID: PMC8730700, DOI: 10.1093/ibd/izab123.Peer-Reviewed Original ResearchConceptsCrohn's diseaseDisease locationCD patientsIL-6 beingColonic Crohn's diseaseInterleukin IL-6IL-12p70Chronic inflammationColorectal diseaseIL-6Inflammatory processHealthy controlsColorectal regionIntestinal microbiotaClinical observationsEpithelial barrierImmune systemPatientsSerum analytesEndothelial systemDiseaseSerum samplesGrowth factorMultiple cell typesDigestive tract