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SOS1 frameshift mutations cause Pure Mucosal Neuroma Syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B.
(Wiley, 2015-12-28)Mucosal neuromas, thickened corneal nerves and Marfanoid body habitus are characteristic phenotypic features of multiple endocrine neoplasia type 2B (MEN2B), and often provide an early clue to the diagnosis of the syndrome. ... -
Islet cell hyperexpression of HLA class I antigens: a defining feature in type 1 diabetes.
(Springer, 2016-11)Human pancreatic beta cells may be complicit in their own demise in type 1 diabetes, but how this occurs remains unclear. One potentially contributing factor is hyperexpression of HLA class I antigens. This was first ... -
Germinal centre frequency is decreased in pancreatic lymph nodes from individuals with recent-onset type 1 diabetes.
(Springer, 2017-02-17)Pancreatic lymph nodes (PLNs) are critical sites for the initial interaction between islet autoantigens and autoreactive lymphocytes, but the histology of PLNs in tissue from individuals with type 1 diabetes has not been ... -
Red Blood Cell Susceptibility to Pneumolysin: Correlation with Membrane Biochemical and Physical Properties.
(Journal of Biological Chemistry, 2016-03-16)This study investigated the effect of the biochemical and biophysical properties of the plasma membrane as well as membrane morphology on the susceptibility of human red blood cells to the cholesterol-dependent cytolysin ... -
Adipose tissue is influenced by hypoxia of obstructive sleep apnea syndrome independent of obesity.
(Elsevier Masson, 2017-01-25)Obstructive sleep apnea syndrome (OSAS) is associated with increased cardiovascular risk and diabetes independent of obesity. We investigated whether adipose tissue dysfunction is exacerbated due to increased tissue hypoxia. -
Dorothy Hodgkin Lecture 2017: Bringing the human pancreas into focus: new paradigms for the understanding of Type 1 diabetes.
(Wiley, 2017-04-20)Type 1 diabetes affects increasingly large numbers of people globally (including at least half a million children under the age of 14 years) and it remains an illness with life-long and often devastating consequences. It ... -
Adherence to Oral Glucose-Lowering Therapies and Associations With 1-Year HbA1c: A Retrospective Cohort Analysis in a Large Primary Care Database.
(American Diabetes Association, 2016-02)The impact of taking oral glucose-lowering medicines intermittently, rather than as recommended, is unclear. We conducted a retrospective cohort study using community-acquired U.K. clinical data (Clinical Practice Research ... -
Maternal hypothyroxinaemia in pregnancy is associated with obesity and adverse maternal metabolic parameters.
(BioScientifica, 2016-01)Subclinical hypothyroidism and isolated hypothyroxinaemia in pregnancy have been associated with an increased risk of gestational diabetes. We aimed to ascertain if these women have a worse metabolic phenotype than euthyroid ... -
Time to change the HbA1c cut-off for prediabetes
(Wiley, 2016-03-01)