A functional polymorphism in the promoter/enhancer region of the FOXP3/Scurfin gene associated with type 1 diabetes

2003/06/01 by Wafaa M. Bassuny, Kenji Ihara, Yuka Sasaki +4 · 1 citation
Biochemistry, Genetics and Molecular Biology · Immunology and Microbiology · #Diabetes and associated disorders #Immune Cell Function and Interaction #T-cell and B-cell Immunology

paper · doi:10.1007/s00251-003-0559-8

crossref issued 2003/06/01 · crossref published 2003/06/01 · crossref published-print 2003/06/01 · openalex publication_date 2003/06/01 · crossref published-online 2003/06/28 · crossref created 2003/11/24 · crossref deposited 2023/04/27 · openalex created_date 2025/10/10 · crossref indexed 2026/07/09 · openalex updated_date 2026/07/23

Citations

• The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
• X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy
• Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse
• JM2, encoding a fork head–related protein, is mutated in X-linked autoimmunity–allergic disregulation syndrome
• Control of Regulatory T Cell Development by the Transcription Factor Foxp3
• Scurfin (FOXP3) Acts as a Repressor of Transcription and Regulates T Cell Activation

Cited by

• FOXP3 [wikipedia]