Searchable abstracts of presentations at key conferences in endocrinology

ea0024oc1.7 | Oral Communications 1 | BSPED2010

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Gaston-Massuet Carles , Andoniadou Cynthia , Signore Massimo , Jayakody Sujatha , Charolidi Nocoletta , Tissier Paul Le , Dattani Mehul , Martinez-Barbera Juan Pedro

Wnt/beta-catenin signalling pathway is required during embryonic development for normal cell proliferation, differentiation and for organ homeostasis in adulthood. Over-activation of this pathway has been implicated in human cancers such as colon or skin cancers. Here, we demonstrate that enhancement of the Wnt pathway in the embryonic Rathke’s pouch causes over-proliferation of progenitor cells and severe differentiation defects in the Pit1-lineage, which results ...

ea0025oc5.3 | Reproduction and fetal programming | SFEBES2011

Mutations in the gene encoding the fibroblast growth factor 8 (FGF8) are associated with complex midline defects including recessive holoprosencephaly and hypothalamo-pituitary dysfunction

McCabe Mark , Gaston-Massuet Carles , Tziaferi Vaitsa , Gregory Louise , Alatzoglou Kyriaki , Signore Massimo , Farooqi Sadaf , Raza Jamal , Walker Joanna , Kavanaugh Scott , Tsai Pei-San , Pitteloud Nelly , Martinez-Barbera Juan-Pedro , Dattani Mehul

Loss-of-function mutations in FGF8 in humans have been associated with Kallmann syndrome (KS), which is characterised by the combination of hypogonadotrophic hypogonadism with anosmia, suggesting that FGF8 is critical for GnRH neuronal development. Interestingly, hypomorphic Fgf8 mutant mice demonstrate poor telencephalic development with deletions of midbrain tissue, absence of olfactory bulbs and optic chiasm, and holoprosencephaly (HPE) with an abnormal corpus...