Endocrine Abstracts

The production of oestradiol (E2) is paramount for the growth of oestrogen receptor α positive breast cancer. Various strategies have been used, including the use of enzyme inhibitors against either aromatase (AROM) or steroid sulphatase (STS), in an attempt to ablate E2 levels. Both these enzymes play a critical role in the formation of oestrogenic steroids (see figure 1) and their inhibitors are now showing success in the clinic. The studies presented here demonstrate t...

Aims: A critical function of astrocytes is to recycle glutamate to neurons as glutamine to sustain glutamatergic neurotransmission. In the hypothalamus, this is required for effective counterregulatory hormone release in response to hypoglycaemia. However, after recurrent hypoglycaemia in vivo, this is attenuated. The aim of this study was to characterise how rat primary hypothalamic and cortical astrocytes adapt to recurrent low glucose (RLG) with repeated exposure t...

Marshall-Smith syndrome (MSS) is a congenital disorder affecting skeletal and neural development due to mutations in the nuclear factor I/X (NFIX) gene. Of these mutations, 61% are small insertions/deletions, 12% are splice site mutations and 27% are large exonic deletions clustered in exons 6–10 of the NFIX gene. In order to derive a MSS mouse model, the N-ethyl-N-nitrosourea (ENU) mutagenesis DNA archive was screened ...

Marshall-Smith syndrome (MSS) is a congenital disorder characterised by developmental delay, short stature, respiratory difficulties, distinctive facial features, skeletal abnormalities (such as kyphoscoliosis, dysostosis and osteopenia) and delayed neural development, and is due to heterozygous mutations that are clustered in exons 6–10 of the transcription factor nuclear factor I/X (NFIX) gene. These frameshift and splice-site NFIX variants result in t...