Michelle E. Goldsworthy

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Determining the genetic bases of age-related disease remains a major challenge requiring a spectrum of approaches from human and clinical genetics to the utilization of model organism studies. Here we report a large-scale genetic screen in mice employing a phenotype-driven discovery platform to identify mutations resulting in age-related disease, both(More)
OBJECTIVES To identify, map, clone, and functionally validate a novel mouse model for impaired glucose tolerance and insulin secretion. RESEARCH DESIGN AND METHODS Haploinsufficiency of the insulin receptor and associated mild insulin resistance has been used to sensitize an N-ethyl-N-nitrosourea (ENU) screen to identify novel mutations resulting in(More)
We employed a random mutagenesis approach to identify novel monogenic determinants of type 2 diabetes. Here we show that haplo-insufficiency of the histone methyltransferase myeloid-lineage leukemia (Mll2/Wbp7) gene causes type 2 diabetes in the mouse. We have shown that mice heterozygous for two separate mutations in the SET domain of Mll2 or heterozygous(More)
Ageing can be characterised by a general decline in cellular function, which affects whole-body homoeostasis with metabolic dysfunction—a common hallmark of ageing. The identification and characterisation of the genetic pathways involved are paramount to the understanding of how we age and the development of therapeutic strategies for combating age-related(More)
OBJECTIVE The purpose of this study was to assess the utility of preoperative head ultrasound scan (HUS) in a cohort of newborns also under going preoperative MRI as part of a prospective research study of brain injury in infants having surgery for congenital heart disease(CHD). METHODS A total of 167 infants diagnosed with CHD were included in this(More)
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