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A Whole-Blood Transcriptome Meta-Analysis Identifies Gene Expression Signatures of Cigarette Smoking.
(Oxford Journals, 2016-08-29)Cigarette smoking is a leading modifiable cause of death worldwide. We hypothesized that cigarette smoking induces extensive transcriptomic changes that lead to target-organ damage and smoking-related diseases. We performed ... -
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. ... -
Raman spectroscopy and multivariate analysis for the non invasive diagnosis of clinically inconclusive vulval lichen sclerosus.
(Royal Society of Chemistry, 2016-11-09)Vulval lichen sclerosus (LS) is a common inflammatory condition associated with an increased risk of developing vulval carcinoma. Diagnosis is usually clinical although biopsy is necessary if the diagnosis is uncertain or ... -
Length of FMR1 repeat alleles within the normal range does not substantially affect the risk of early menopause.
(Oxford Journals, 2016-10)Is the length of FMR1 repeat alleles within the normal range associated with the risk of early menopause? -
Increased DNA methylation near TREM2 is consistently seen in the superior temporal gyrus in Alzheimer's disease brain.
(Elsevier, 2016-11)Although mutations within the TREM2 gene have been robustly associated with Alzheimer's disease, it is not known whether alterations in the regulation of this gene are also involved in pathogenesis. Here, we present data ... -
The role of perfusion in the oxygen extraction capability of skin and skeletal muscle.
(American Physiological Society, 2016-05-15)Oxygen extraction (OE) by all cells is dependent on an adequate supply of oxygen in proximal blood vessels and the cell's need and ability to uptake that oxygen. Here the role of blood flow in regulating OE in skin and ... -
Developing fibre optic Raman probes for applications in clinical spectroscopy.
(Royal Society of Chemistry, 2016-04-07)Raman spectroscopy has been shown by various groups over the last two decades to have significant capability in discriminating disease states in bodily fluids, cells and tissues. Recent development in instrumentation, ... -
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 ... -
Exfoliated colonocyte DNA levels and clinical features in the diagnosis of colorectal cancer: a cohort study in patients referred for investigation.
(Wiley, 2012-03)Selection of patients for investigation of suspected colorectal cancer is difficult. One possible improvement may be to measure DNA isolated from exfoliated cells collected from the rectum. -
Relationships between pathology and crystal structure in breast calcifications: an in situ X-ray diffraction study in histological sections
(Nature, 2016-09-14)Calcifications are not only one of the most important early diagnostic markers of breast cancer, but are also increasingly believed to aggravate the proliferation of cancer cells and invasion of surrounding tissue. Moreover, ...