Browsing Honorary contracts by Title
Now showing items 1-20 of 296
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5-hydroxymethylcytosine is highly dynamic across human fetal brain development.
(BioMed Central, 2017-09-18)Epigenetic processes play a key role in orchestrating transcriptional regulation during the development of the human central nervous system. We previously described dynamic changes in DNA methylation (5mC) occurring during ... -
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.
(Nature, 2014-08)Monogenic causes of autoimmunity provide key insights into the complex regulation of the immune system. We report a new monogenic cause of autoimmunity resulting from de novo germline activating STAT3 mutations in five ... -
An Activating STAT3 Mutation Causes Neonatal Diabetes through Premature Induction of Pancreatic Differentiation.
(Cell Press, 2017-04-11)Activating germline mutations in STAT3 were recently identified as a cause of neonatal diabetes mellitus associated with beta-cell autoimmunity. We have investigated the effect of an activating mutation, STAT3(K392R), on ... -
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 ... -
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. -
Advanced paternal age effects in neurodevelopmental disorders-review of potential underlying mechanisms.
(Nature, 2017-01-31)Multiple epidemiological studies suggest a relationship between advanced paternal age (APA) at conception and adverse neurodevelopmental outcomes in offspring, particularly with regard to increased risk for autism and ... -
Age-associated changes in DNA methylation across multiple tissues in an inbred mouse model.
(Elsevier, 2016-02-06)Epigenetic disruption has been implicated in many diseases of aging, and age-associated DNA methylation changes at specific genomic loci in humans are strongly correlated with chronological age. The aim of this study was ... -
Ageing modifies the effects of beetroot juice supplementation on 24-hour blood pressure variability: An individual participant meta-analysis.
(Elsevier, 2015-05-01)Abnormal circadian oscillations of blood pressure (BP) and nocturnal-diurnal BP differences (i.e., dipping) increase cardiovascular risk. Whether inorganic nitrate supplementation influences 24-hr BP variability is currently ... -
Airflow limitation following cardiopulmonary exercise testing and heavy-intensity intermittent exercise in children with cystic fibrosis.
(Springer, 2015-02)The clinical importance of exercise testing and training in the healthcare management of young patients with cystic fibrosis (CF) is growing. The aim of the present study was to determine the incidence of airflow limitation ... -
Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture.
(De Gruyter, 2015-03)Inheritance of two pathogenic ABCC8 alleles typically causes severe congenital hyperinsulinism. We describe a girl and her father, both homozygous for the same ABCC8 mutation, who presented with unusual phenotypes. -
An Amish founder mutation disrupts a PI(3)P-WHAMM-Arp2/3 complex-driven autophagosomal remodeling pathway.
(American Society for Cell Biology, 2017-09-15)Actin nucleation factors function to organize, shape, and move membrane-bound organelles, yet they remain poorly defined in relation to disease. Galloway-Mowat syndrome (GMS) is an inherited disorder characterized by ... -
Analysis of DNA Methylation in Young People: Limited Evidence for an Association Between Victimization Stress and Epigenetic Variation in Blood.
(American Psychiatric Association, 2018-01-12)DNA methylation has been proposed as an epigenetic mechanism by which early-life experiences become "embedded" in the genome and alter transcriptional processes to compromise health. The authors sought to investigate whether ... -
Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man.
(Cell Press, 2014-01-07)Understanding transcriptional regulation of pancreatic development is required to advance current efforts in developing beta cell replacement therapies for patients with diabetes. Current knowledge of key transcriptional ... -
Anemia in a Child with Deafness: Be Vigilant for a Rare Cause!
(Springer, 2015-09) -
ANK1 is up-regulated in laser captured microglia in Alzheimer's brain; the importance of addressing cellular heterogeneity.
(PLoS One, 2017-07)Recent epigenetic association studies have identified a new gene, ANK1, in the pathogenesis of Alzheimer's disease (AD). Although strong associations were observed, brain homogenates were used to generate the data, introducing ... -
Anxiety is associated with higher levels of global DNA methylation and altered expression of epigenetic and interleukin-6 genes
(Wolters Kluwer, 2015-04-01)OBJECTIVES: Anxiety is associated with elevated levels of the inflammatory cytokine interleukin-6 (IL-6) and an increased risk for diseases with an inflammatory aetiology. In cancer, higher levels of IL-6 have been associated ... -
Are genetic tests exceptional? Lessons from a qualitative study on thrombophilia.
(Elsevier, 2006-10)Policy makers have suggested that information about genetic risk factors, which are associated with low risk and for which preventive strategies exist, should not be considered "exceptional" and should not warrant special ... -
Assessment of Compressive Raman versus Hyperspectral Raman for Microcalcification Chemical Imaging
(American Chemical Society, 2018-05-15) -
Assessment of endogenous insulin secretion in insulin treated diabetes predicts postprandial glucose and treatment response to prandial insulin.
(BioMed Central, 2012)In patients with both Type 1 and Type 2 diabetes endogenous insulin secretion falls with time which changes treatment requirements, however direct measurement of endogenous insulin secretion is rarely performed. We aimed ... -
Assessment of the HNF1B Score as a Tool to Select Patients for HNF1B Genetic Testing.
(Karger, 2015-05-22)Diagnosing hepatocyte nuclear factor 1β (HNF1B)-related disease is a challenging task due to the phenotypic variability and frequent absence of a family history. An HNF1B score has recently been developed to help select ...