Searchable abstracts of presentations at key conferences in endocrinology

ea0022p259 | Developmental endocrinology | ECE2010

Partial loss of pancreas endocrine and exocrine cells of human ARX-null mutation: consideration of pancreas differentiation

Itoh Masayuki , Okazaki Shin , Miyata Rie , Inoue Takeshi , Akashi Takumi , Hayashi Masaharu , Goto Yuichi

Aristaless-related homeobox gene (ARX) mutation leads to several neurological disorders including X-linked lissencephaly with abnormal genitalia (XLAG), West syndrome and Partington syndrome, with XLAG being the most severe form. Although some of the brain pathology of XLAG has already been described, the crucial extra-brain symptoms are severe growth retardation, transient hyperglycemia and intractable diarrhea. Since ARX expresses in the islets of Langerhans du...