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


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2001-01

AUTHORS

Robert S. Wildin, Fred Ramsdell, Jane Peake, Francesca Faravelli, Jean-Laurent Casanova, Neil Buist, Ephrat Levy-Lahad, Massimo Mazzella, Olivier Goulet, Lucia Perroni, Franca Dagna Bricarelli, Geoffrey Byrne, Mark McEuen, Sean Proll, Mark Appleby, Mary E. Brunkow

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. More... »

PAGES

18

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/83707

DOI

http://dx.doi.org/10.1038/83707

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1001057558

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/11137992


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