Institute of Biomedical & Clinical Science
Recent Submissions
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Copy number variation of LINGO1 in familial dystonic tremor
(Lippincott, Williams & Wilkins, 2018)Objective: To elucidate the genetic cause of a large five generation South Indian family with multiple individuals with predomiantly an upper limb postural tremor and posturing in keeping with another form of tremor, ... -
Meta-analysis of genome-wide association studies for body fat distribution in 694,649 individuals of European ancestry.
(Oxford University Press (OUP), 2018-09-14)One in four adults worldwide are either overweight or obese. Epidemiological studies indicate that the location and distribution of excess fat, rather than general adiposity, is most informative for predicting risk of ... -
ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents
(Wiley for International Society for Pediatric and Adolescent Diabetes (ISPAD), 2018-09-17) -
Excess mortality and cardiovascular disease in young adults with type 1 diabetes in relation to age at onset: a nationwide, register-based cohort study
(Elsevier, 2018-08-09)BACKGROUND: People with type 1 diabetes are at elevated risk of mortality and cardiovascular disease, yet current guidelines do not consider age of onset as an important risk stratifier. We aimed to examine how age at ... -
Cathepsin L induces proangiogenic changes in human omental microvascular endothelial cells via activation of the ERK1/2 pathway
(Bentham Science Publishers, 2018-08-31)BACKGROUND: Metastasis still remains the major cause of therapeutic failure, poor prognosis and high mortality in epithelial ovarian cancer (EOC) patients. Previously, we showed that EOC cells secrete a range of factors ... -
Type 2 diabetes mellitus in older people: a brief statement of key principles of modern day management including the assessment of frailty. A national collaborative stakeholder initiative
(Wiley for Diabetes UK, 2018-04-07)Rates of population ageing are unprecedented and this, combined with the progressive urbanization of lifestyles, has led to a dramatic shift in the epidemiology of diabetes towards old age, particularly to those aged 60-79 ... -
Evaluating associations between the benefits and risks of drug therapy in type 2 diabetes: A joint modelling approach
(Dove Medical Press, 2018)Objective: Precision medicine drug therapy seeks to maximise efficacy and minimise harm for individual patients. This will be difficult if drug response and side-effects are positively associated, meaning patients likely ... -
The Evolutionarily Conserved Cassette Exon 7b Drives ERG's Oncogenic Properties
(Elsevier, 2018-10-05)The oncogene ERG encodes an ETS family transcription factor and is implicated in blood, vascular, and bone development and in prostate, blood, and bone cancer. The ERG gene is alternatively spliced; of particular interest ... -
Red cell distribution width and common disease onsets in 240,477 healthy volunteers followed for up to 9 years
(Public Library of Science, 2018-09-13)Higher Red Blood Cell Distribution Width (RDW or anisocytosis) predicts incident coronary artery disease (CAD) plus all-cause and cardiovascular mortality, but its predictive value for other common diseases in healthy ... -
Human longevity: 25 genetic loci associated in 389,166 UK biobank participants
(Impact Journals, 2017-12-06)We undertook a genome-wide association study (GWAS) of parental longevity in European descent UK Biobank participants. For combined mothers' and fathers' attained age, 10 loci were associated (p<5*10-8), including 8 ... -
Clinical Outcomes of CADASIL-Associated NOTCH3 Mutations in 451,424 European Ancestry Community Volunteers
(Springer Verlag, 2018-10-18)Letter to the Editor -
Metformin is the key factor in elevated plasma growth differentiation factor-15 levels in type 2 diabetes: A nested, case-control study
(Wiley, 2018-09-03)Produced as a tissue defence response to hypoxia and inflammation, growth differentiation factor-15 (GDF-15) is elevated in people receiving metformin treatment. To gain insight into the relationship of GDF-15 with metformin ... -
A histone acetylome-wide association study of Alzheimer’s disease identifies disease-associated H3K27ac differences in the entorhinal cortex
(Springer Nature, 2018-10-22)We quantified genome-wide patterns of lysine H3K27 acetylation (H3K27ac) in entorhinal cortex samples from Alzheimer’s disease (AD) cases and matched controls using chromatin immunoprecipitation and highly parallel ... -
Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease
(Springer Nature for American College of Medical Genetics, 2018-10-03)PURPOSE: One of the greatest challenges currently facing those studying Mendelian disease is identifying the pathogenic variant from the long list produced by a next-generation sequencing test. We investigate the predictive ... -
Assessment of Kidney Function in Mouse Models of Glomerular Disease
(Journal of Visualized Experiments (JoVE), 2018-06-30)The use of murine models to mimic human kidney disease is becoming increasingly common. Our research is focused on the assessment of glomerular function in diabetic nephropathy and podocyte-specific VEGF-A knock-out mice; ... -
Which Risk Factors Causally Influence Dementia? A Systematic Review of Mendelian Randomization Studies
(IOS Press, 2018-06-08)BACKGROUND: Numerous risk factors for dementia are well established, though the causal nature of these associations remains unclear. OBJECTIVE: To systematically review Mendelian randomization (MR) studies investigating ... -
Epigenetic dysregulation of brainstem nuclei in the pathogenesis of Alzheimer's disease: looking in the correct place at the right time?
(Springer Verlag, 2016-09-14)Even though the etiology of Alzheimer's disease (AD) remains unknown, it is suggested that an interplay among genetic, epigenetic and environmental factors is involved. An increasing body of evidence pinpoints that ... -
ABCA7 p.G215S as potential protective factor for Alzheimer's disease
(Elsevier, 2016-04-20)Genome-wide association studies (GWASs) have been effective approaches to dissect common genetic variability underlying complex diseases in a systematic and unbiased way. Recently, GWASs have led to the discovery of over ... -
DNA Modifications and Alzheimer's Disease
(Springer Verlag, 2017-05-19)Alzheimer's disease (AD) is a complex neurodegenerative disease, affecting millions of people worldwide. While a number of studies have focused on identifying genetic variants that contribute to the development and progression ...