Browsing Honorary contracts by Title
Now showing items 1-20 of 560
-
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 ... -
Absence of islet autoantibodies and modestly raised glucose values at diabetes diagnosis should lead to testing for MODY: lessons from a 5 year pediatric Swedish national cohort study
(American Diabetes Association, 2020-01)Identifying maturity-onset diabetes of the young (MODY) in pediatric populations close to diabetes diagnosis is difficult. Misdiagnosis and unnecessary insulin treatment are common. We aimed to identify the discriminatory ... -
Accelerating the Search for Interventions Aimed at Expanding the Health Span in Humans: The Role of Epidemiology
(Oxford University Press, 2020-01-01)Background: Extensive work in basic and clinical science suggests that biological mechanisms of aging are causally related to the development of disease and disability in late life. Modulation of the biological mechanisms ... -
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 ... -
The acute transcriptional response to resistance exercise: impact of age and contraction mode
(Impact Journals, 2019-04-15)Optimization of resistance exercise (RE) remains a hotbed of research for muscle building and maintenance. However, the interactions between the contractile components of RE (i.e. concentric (CON) and eccentric (ECC)) and ... -
Adherence and persistence to direct oral anticoagulants in atrial fibrillation: a population based study
(BMJ, 2020-01)Despite simpler regimens than vitamin K antagonists (VKAs) for stroke prevention in atrial fibrillation (AF), adherence (taking drugs as prescribed) and persistence (continuation of drugs) to direct oral anticoagulants are ... -
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 ... -
Advancing human health in the decade ahead: pregnancy as a key window for discovery: A Burroughs Wellcome Fund Pregnancy Think Tank
(Elsevier Science, 2020-09)Recent revolutionary advances at the intersection of medicine, omics, data sciences, computing, epidemiology, and related technologies inspire us to ponder their impact on health. Their potential impact is particularly ... -
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 ... -
Age-related neurochemical and behavioural changes in D409V/WT GBA1 mouse: Relevance to lewy body dementia
(Elsevier Science, 2019-10)Heterozygous mutations in GBA1, the gene which encodes the lysosomal enzyme glucocerebrosidase (GCase), are a strong genetic risk factor for the development of Lewy body dementia (LBD). Until this point however, recapitulation ... -
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 ... -
The Agreement Between the Referrer, Practitioner and Research Diagnosis of Autistic Spectrum Conditions Among Children Attending Child and Adolescent Mental Health Services
(Springer, 2019-09)We aimed to explore the levels of agreement about the diagnoses of Autistic Spectrum Conditions between the referrer, CAMHS practitioner and a research diagnosis, as well as the stability of the practitioner's diagnosis ... -
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 ... -
Altered DNA methylation profiles in blood from patients with sporadic Creutzfeldt-Jakob disease
(Springer, 2020-12)Prion diseases are fatal and transmissible neurodegenerative disorders caused by the misfolding and aggregation of prion protein. Although recent studies have implicated epigenetic variation in common neurodegenerative ... -
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. -
Alzheimer's Disease associated genes ankyrin and tau cause shortened lifespan and memory loss in Drosophila
(Open Access Frontiers, 2019-06)Alzheimer's disease (AD) is the most common form of dementia and is characterized by intracellular neurofibrillary tangles of hyperphosphorylated Tau, including the 0N4R isoform and accumulation of extracellular amyloid ...