{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Ghasempour S"],"funding":["Investissement d'Avenir","Leona M. and Harry B. Helmsley Charitable Trust","Lassonde Family Precision IBD Initiative","Investissement d’Avenir","Polish National Science Centre","Institut National de la Santé et de la Recherche Médicale","National Institutes of Health","Fondation Princesse Grace de Monaco","CIHR Foundation Grant","Canadian Institute for Advanced Research","Ontario Research Foundation","NIDDK NIH HHS","Government of Ontario","Université Paris-Cité","Fondation pour la Recherche Médicale","Canada Foundation for Innovation","Hospital for Sick Children","NIH HHS","Canada Research Chair program"],"pagination":["e20240546"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11554753"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["221(12)"],"pubmed_abstract":["Integrin heterodimers containing an Integrin alpha V subunit are essential for development and play critical roles in cell adhesion and signaling. We identified biallelic variants in the gene coding for Integrin alpha V (ITGAV) in three independent families (two patients and four fetuses) that either caused abnormal mRNA and the loss of functional protein or caused mistargeting of the integrin. This led to eye and brain abnormalities, inflammatory bowel disease, immune dysregulation, and other developmental issues. Mechanistically, the reduction of functional Integrin αV resulted in the dysregulation of several pathways including TGF-β-dependent signaling and αVβ3-regulated immune signaling. These effects were confirmed using immunostaining, RNA sequencing, and functional studies in patien"],"journal":["The Journal of experimental medicine"],"pubmed_title":["Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis."],"pmcid":["PMC11554753"],"funding_grant_id":["2015/16/T/NZ5/00168","RC2 DK118640","RC2DK118640","RC2 DK122532","EQU202203014656","RC2DK122532","ANR-10-IAHU-01","ED562"],"pubmed_authors":["Khiat A","Hulst JM","Charbit-Henrion F","Pinto Pais I","Liang Y","Hoefsloot LH","Kotlarz D","Warner N","Nowak JK","van Ham TJ","Ivanochko D","Parlato M","Whittaker Hawkins R","Mulder DJ","Pluthero FG","Zhao M","Weerts MJA","Douben H","Cerf-Bensussan N","Muise AM","Dowling JJ","Upton JEM","Stallard L","Trindade E","Ghasempour S","Marwaha A","Freeman SA","Batura V","Mendoza-Londono R","Guan R","Joosten M","Li M","Kahr WHA","Moreira D","Klein C","Julien JP","Rodari MM","Espinheira MDC","Snapper SB","Siddiqui I","Yu DD"],"additional_accession":[]},"is_claimable":false,"name":"Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis.","description":"Integrin heterodimers containing an Integrin alpha V subunit are essential for development and play critical roles in cell adhesion and signaling. We identified biallelic variants in the gene coding for Integrin alpha V (ITGAV) in three independent families (two patients and four fetuses) that either caused abnormal mRNA and the loss of functional protein or caused mistargeting of the integrin. This led to eye and brain abnormalities, inflammatory bowel disease, immune dysregulation, and other developmental issues. Mechanistically, the reduction of functional Integrin αV resulted in the dysregulation of several pathways including TGF-β-dependent signaling and αVβ3-regulated immune signaling. These effects were confirmed using immunostaining, RNA sequencing, and functional studies in patien","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Dec","modification":"2026-06-03T05:12:33.311Z","creation":"2025-04-06T10:14:45.65Z"},"accession":"S-EPMC11554753","cross_references":{"pubmed":["39526957"],"doi":["10.1084/jem.20240546"]}}