X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy
2001/01/01 by Robert S. Wildin, Fred Ramsdell, Jane Peake +20 · 18 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Diabetes and associated disorders #FOXO transcription factor regulation #Pancreatic function and diabetes
paper · doi:10.1038/83707
crossref issued 2001/01/01 · crossref published 2001/01/01 · crossref published-print 2001/01/01 · openalex publication_date 2001/01/01 · crossref created 2002/07/26 · crossref deposited 2023/05/18 · openalex created_date 2025/10/10 · crossref indexed 2026/08/03 · openalex updated_date 2026/08/04
Citations
Cited by
- Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX)
- Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Inheritance: Model for Autoaggression
- Control of Regulatory T Cell Development by the Transcription Factor Foxp3
- Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse
- Foxp3 occupancy and regulation of key target genes during T-cell stimulation
- FOXP3 ensembles in T‐cell regulation
- Scurfin (FOXP3) Acts as a Repressor of Transcription and Regulates T Cell Activation
- IPEX as a Result of Mutations in FOXP3
- Mutational Analysis of the FOXP3 Gene and Evidence for Genetic Heterogeneity in the Immunodysregulation, Polyendocrinopathy, Enteropathy Syndrome
- A Peptide Inhibitor of FOXP3 Impairs Regulatory T Cell Activity and Improves Vaccine Efficacy in Mice
- X-chromosome inactivation analysis in a female carrier of FOXP3 mutation
- FOXP3 Controls Regulatory T Cell Function through Cooperation with NFAT
- The role of the FOXP3 transcription factor in the immune regulation of allergic asthma
- A functional polymorphism in the promoter/enhancer region of the FOXP3/Scurfin gene associated with type 1 diabetes
- DECIPHERING THE GENETIC BASIS OF SPEECH AND LANGUAGE DISORDERS
- A forkhead-domain gene is mutated in a severe speech and language disorder
- Dendritic cell–regulatory T‐cell interactions control self‐directed immunity
- FOXP3 [wikipedia]