Searchable abstracts of presentations at key conferences in endocrinology

ea0011oc48 | Endocrine genetics | ECE2006

Progressive osseous heteroplasia: a phenotype associated with mutations of the GNAS1 gene

Richard N , Abeguile G , Kottler ML

Progressive osseous heteroplasia (POH, MIM 166350) is a rare autosomal dominant disorder characterised by extensive dermal ossification during childhood, followed by widespread heterotopic ossification of skeletal muscle and deep connective tissue. Recently, genetic basis was found to be common with AlbrightÂ’s hereditary osteodystrophy (AHO) (Shore et al., 2002): paternally inherited inactivating mutations of the GNAS1 gene were found. GNAS1 is the ge...

ea0011p686 | Reproduction | ECE2006

Expressions of KISS1 and GPR54 are differentially regulated by estradiol and GnRH in adult female rat pituitary

Richard N , Galmiche G , Corvaisier S , Kottler ML

Expressions of KISS-1 and GPR54 have been demonstrated in a variety of tissues, including pituitary. Given their role in reproduction and in gonadotrophin secretion, we examined the regulation of their expression by steroids and GnRH in the rat pituitary using real-time PCR procedure.After ovariectomy (OVX), pituitary KISS-1 mRNA levels dramatically decrease whereas GPR54 transcripts slightly increase compared with intact cycl...