Honorary contracts publications
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Research outputs from staff with honorary RD&E contracts.
Recent Submissions
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Disease progression and treatment response in data-driven subgroups of type 2 diabetes compared with models based on simple clinical features: an analysis using clinical trial data
(Elsevier, 2019-06)Research using data-driven cluster analysis has proposed five subgroups of diabetes with differences in diabetes progression and risk of complications. We aimed to compare the clinical utility of this subgroup-based approach ... -
A specific CNOT1 mutation results in a novel syndrome of pancreatic agenesis and holoprosencephaly through impaired pancreatic and neurological development
(Cell Press, 2019-05)We report a recurrent CNOT1 de novo missense mutation, GenBank: NM_016284.4; c.1603C>T (p.Arg535Cys), resulting in a syndrome of pancreatic agenesis and abnormal forebrain development in three individuals and a similar ... -
Type 1 diabetes defined by severe insulin deficiency occurs after 30 years of age and is commonly treated as type 2 diabetes
(Springer, 2019-07)Late-onset type 1 diabetes can be difficult to identify. Measurement of endogenous insulin secretion using C-peptide provides a gold standard classification of diabetes type in longstanding diabetes that closely relates ... -
Trisomy 21 is a cause of permanent neonatal diabetes that is autoimmune but not HLA associated
(American Diabetes Association, 2019-04)Identifying new causes of permanent neonatal diabetes (diagnosis <6 months; PNDM) provides important insights into β-cell biology. Patients with Down syndrome (DS) resulting from trisomy 21 are 4 times more likely to have ... -
Persistent C-peptide is associated with reduced hypoglycaemia but not HbA1c in adults with longstanding Type 1 diabetes: evidence for lack of intensive treatment in UK clinical practice?
(Wiley, 2019-04)Most people with Type 1 diabetes have low levels of persistent endogenous insulin production. The Diabetes Control and Complications Trial showed that close to diagnosis preserved endogenous insulin was associated with ... -
Evidence of a causal relationship between body mass index and psoriasis: a mendelian randomization
(PLoS, 2019-01)Psoriasis is a common inflammatory skin disease that has been reported to be associated with obesity. We aimed to investigate a possible causal relationship between body mass index (BMI) and psoriasis. -
Stability of urinary albumin and creatinine after 12 months storage at -20 °C and -80 °C.
(Elsevier, 2019-03-22)Increasing albumin to creatinine ratio (ACR) within the normal range is a risk factor for cardiovascular disease in the general population. Clinical and epidemiological studies often store urine samples for long durations ... -
Parallel profiling of DNA methylation and hydroxymethylation highlights neuropathology-associated epigenetic variation in Alzheimer's disease
(BioMed Central, 2019-03)Alzheimer's disease is a progressive neurodegenerative disorder that is hypothesized to involve epigenetic dysfunction. Previous studies of DNA modifications in Alzheimer's disease have been unable to distinguish between ... -
Genetic Mechanisms Highlight Shared Pathways for the Pathogenesis of Polygenic Type 1 Diabetes and Monogenic Autoimmune Diabetes
(Springer, 2019-03)Genome-wide association studies have identified 57 genetic risk loci for type 1 diabetes. Progress has been made in unravelling the mechanistic effects of some of these variants, providing key insights into the pathogenesis ... -
Offspring of Mice Exposed to a Low-Protein Diet in Utero Demonstrate Changes in mTOR Signaling in Pancreatic Islets of Langerhans, Associated with Altered Glucagon and Insulin Expression and a Lower β-Cell Mass
(MDPI, 2019-03)Low birth weight is a risk factor for gestational and type 2 diabetes (T2D). Since mammalian target of rapamycin (mTOR) controls pancreatic β-cell mass and hormone release, we hypothesized that nutritional insult in utero ... -
Copy number variation of LINGO1 in familial dystonic tremor
(American Academy of Neurology, 2019-02)OBJECTIVE: To elucidate the genetic cause of a large 5 generation South Indian family with multiple individuals with predominantly an upper limb postural tremor and posturing in keeping with another form of tremor, namely, ... -
HLA Class II Antigen Processing and Presentation Pathway Components Demonstrated by Transcriptome and Protein Analyses of Islet β-Cells From Donors With Type 1 Diabetes
(American Diabetes Association, 2019-05)Type 1 diabetes studies consistently generate data showing islet β-cell dysfunction and T cell-mediated anti-β-cell-specific autoimmunity. To explore the pathogenesis, we interrogated the β-cell transcriptomes from donors ... -
Time trends in prescribing of type 2 diabetes drugs, glycaemic response and risk factors: A retrospective analysis of primary care data, 2010-2017
(Wiley, 2019-03)Aim To describe population‐level time trends in prescribing patterns of type 2 diabetes therapy, and in short‐term clinical outcomes (glycated haemoglobin [HbA1c], weight, blood pressure, hypoglycaemia and treatment ... -
Genetic risk variants for brain disorders are enriched in cortical H3K27ac domains
(BioMed Central, 2019-01)Most variants associated with complex phenotypes in genome-wide association studies (GWAS) do not directly index coding changes affecting protein structure. Instead they are hypothesized to influence gene regulation, with ... -
Rationale for enteroviral vaccination and antiviral therapies in human type 1 diabetes
(Springer, 2019-01-23)In type 1 diabetes, pancreatic beta cells are destroyed by chronic autoimmune responses. The disease develops in genetically susceptible individuals, but a role for environmental factors has been postulated. Viral infections ... -
PDL1 is expressed in the islets of people with type 1 diabetes and is up-regulated by interferons-α and-γ via IRF1 induction.
(Elsevier, 2018-09-27)Antibodies targeting PD-1 and its ligand PDL1 are used in cancer immunotherapy but may lead to autoimmune diseases, including type 1 diabetes (T1D). It remains unclear whether PDL1 is expressed in pancreatic islets of ... -
Fifty years of pancreatic islet pathology in human type 1 diabetes: insights gained and progress made.
(Springer, 2018-09-25)Type 1 diabetes is increasing in incidence in many parts of the world and it might be imagined that the pathological processes that underlie disease progression are firmly understood. However, this is not the case; rather, ... -
Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature.
(BioMed Central, 2018-09-10)Autosomal recessive anophthalmia and microphthalmia are rare developmental eye defects occurring during early fetal development. Syndromic and non-syndromic forms of anophthalmia and microphthalmia demonstrate extensive ... -
Discrimination of skin cancer cells using Fourier transform infrared spectroscopy.
(Elsevier, 2018-09-01)Fourier transform infrared (FTIR) spectroscopy is a highly versatile tool for cell and tissue analysis. Modern commercial FTIR microspectroscopes allow the acquisition of good-quality hyperspectral images from cytopathological ... -
The effectiveness and cost-effectiveness of the Incredible Years® Teacher Classroom Management programme in primary school children: results of the STARS cluster randomised controlled trial.
(Cambridge Journals, 2018-07-18)We evaluated the effectiveness and cost-effectiveness of the Incredible Years® Teacher Classroom Management (TCM) programme as a universal intervention, given schools' important influence on child mental health.
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