X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy.

(Journal Article): X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy.

Wildin RS, Ramsdell F, Peake J, Faravelli F, Casanova JL, Buist N, Levy-Lahad E, Mazzella M, Goulet O, Perroni L et al (Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, USA., wildinr@ohsu.edu )

IN: Nat Genet 2001; 27:18-20
Impact Factor(s) of Nat Genet: 25.797 (2005), 24.695 (2004), 26.494 (2003), 26.711 (2002), 29.6 (2001)

Fulltext: HTML

ABSTRACT: To determine whether human X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome (IPEX; MIM 304930) is the genetic equivalent of the scurfy (sf) mouse, we sequenced the human ortholog (FOXP3) of the gene mutated in scurfy mice (Foxp3), in IPEX patients. We found four non-polymorphic mutations. Each mutation affects the forkhead/winged-helix domain of the scurfin protein, indicating that the mutations may disrupt critical DNA interactions.

TYPE OF PUBLICATION: Original article

Articles citing this article:

Thomas D, Zaccone P, Cooke A. The Role of Regulatory T Cell Defects in Type I Diabetes and the Potential of these Cells for Therapy. Rev Diabetic Stud 2005. 2: 9-18.
» Diabetes OD » Reversal/Prevention of Diabete... » T1DM » Re-establishing Tolerance » Modifying Immunity » Journal Article

Respond on this Journal Article! Hint: Your Response should directly apply to *X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy.. Please check, if this context applies best to your contribution. Otherwise click HERE* to change to the appropriate subject area. The actual subject area is IPEX.