Searchable abstracts of presentations at key conferences in endocrinology

ea0025oc4.1 | Bone and diabetes | SFEBES2011

A mouse with an ENU-induced mutation (Tyr209Asn) in the natriuretic peptide receptor 3 (Npr3) develops autosomal recessive kyphosis

Esapa Christopher , Head Rosie , Thomas Gethin , Brown Matthew , Croucher Peter , Cox Roger , Brown Steve , Thakker Rajesh

Kyphosis is a common spinal disorder affecting up to 8.3% of the population, and associated with significant morbidity. Familial and twin studies have implicated a genetic involvement. However, the causative genes have not been identified. Studies investigating the underlying molecular mechanisms are hampered by genetic heterogeneity, small families and variable modes of inheritance displayed by different kindreds. To overcome these limitations, we investigated 12 week old pro...

ea0025p14 | Bone | SFEBES2011

A gene causing autosomal dominant kyphoscoliosis in an N-ethyl-N-nitrosourea (ENU) mutagenised mouse model is located on a 5 Mb interval on mouse chromosome 4 band A3

Esapa Christopher , Head Rosie , Evans Holly , Thomas Gethin , Brown Matthew , Croucher Peter , Cox Roger , Brown Steve , Thakker Rajesh

Kyphosis and scoliosis are common spinal disorders that lead to significant morbidity in childhood, adolescence and adulthood. Familial and twin studies have implicated a genetic involvement, although the causative genes remain to be identified. To facilitate these studies, we investigated 12-week-old progeny of mice treated with the chemical mutagen N-ethyl-N-nitrosourea (ENU) using phenotypic assessments that included dysmorphology, radiography and dual-energy ...

ea0031oc2.6 | Steroids and thyroid | SFEBES2013

An N-ethyl-N-nitrosourea induced Corticotrophin releasing hormone promoter mutation provides a mouse model of Cushing's syndrome

Bentley Liz , Esapa Christopher T , Nesbit M Andrew , Head Rosie A , Evans Holly , Lath Darren , Hough Tertius A , Podrini Christine , Fraser William D , Croucher Peter I , Brown Matthew A , Brown Steve D M , Cox Roger D , Thakker Rajesh V

CushingÂ’s syndrome, which is characterised by excessive circulating glucocorticoid (GC) concentrations, may be due to ACTH-dependent or -independent causes that include anterior pituitary and adrenal cortical tumours, respectively. In the course of our phenotype-driven screens of mouse mutants induced by the chemical mutagen N-ethyl-N-nitrosourea (ENU), we observed a mutant mouse with obesity, hyperglycaemia and low bone mineral density, features that ar...