Institute of Biomedical & Clinical Science
Welcome to the research outputs of the University of Exeter Institute of Biomedical & Clinical Science, part of the University of Exeter Medical School
Recent Submissions
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Abnormal islet sphingolipid metabolism in type 1 diabetes
(Springer Verlag (Germany), 2018-04-18)AIMS/HYPOTHESIS: Sphingolipids play important roles in beta cell physiology, by regulating proinsulin folding and insulin secretion and in controlling apoptosis, as studied in animal models and cell cultures. Here we ... -
A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations
(BioMed Central, 2015-11-10)BACKGROUND: The deletion of the chromosome 4p16.3 Wolf-Hirschhorn syndrome critical region (WHSCR-2) typically results in a characteristic facial appearance, varying intellectual disability, stereotypies and prenatal onset ... -
Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis
(Oxford University Press (OUP) for Guarantors of Brain, 2013-10-07)Glycosphingolipids are ubiquitous constituents of eukaryotic plasma membranes, and their sialylated derivatives, gangliosides, are the major class of glycoconjugates expressed by neurons. Deficiencies in their catabolic ... -
Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report
(BioMed Central, 2018-02-20)BACKGROUND: L-2-hydroxyglutaric aciduria (L2HGA) is a progressive neurometabolic disease of brain caused by mutations of in L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene. Cardinal clinical features include cerebellar ... -
Is it safe to go back into the water? A systematic review and meta-analysis of the risk of acquiring infections from recreational exposure to seawater (article)
(International Journal of Epidemiology, 2018-02-26)Background: Numerous illnesses are associated with bathing in natural waters, although it is assumed that the risk of illness among bathers exposed to relatively clean waters found in high-income countries is negligible. ... -
Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies.
(Lippincott, Williams & Wilkins, 2018-03-03)Objective: To identify the genetic cause of disease in 2 previously unreported families with forms of distal hereditary motor neuropathies (dHMNs). Methods: The first family comprises individuals affected by dHMN type V, ... -
C-peptide decline in type 1 diabetes has two phases: an initial exponential fall and a subsequent stable phase
(American Diabetes Association, 2018)OBJECTIVE: The decline in C-peptide in the five years after diagnosis of Type 1 diabetes has been well studied, but little is known about the longer-term trajectory. We aimed to examine the association between log-transformed ... -
A Common Allele in FGF21 Associated with Sugar Intake Is Associated with Body Shape, Lower Total Body-Fat Percentage, and Higher Blood Pressure
(Elsevier (Cell Press), 2018-04-10)Fibroblast growth factor 21 (FGF21) is a hormone that has insulin-sensitizing properties. Some trials of FGF21 analogs show weight loss and lipid-lowering effects. Recent studies have shown that a common allele in the FGF21 ... -
Initiation and slow propagation of epileptiform activity from ventral to dorsal medial entorhinal cortex is constrained by an inhibitory gradient.
(Wiley, 2018-03-31)The medial entorhinal cortex (mEC) has an important role in the generation and propagation of seizure activity. The organisation of the mEC is such that a number of dorso-ventral relationships exist in neurophysiological ... -
Influence of luminescent graphene quantum dots on trypsin activity
(Dove Medical Press / American Society for Nanomedicine, 2018-03-15)Background: Protein-graphene interactions have the potential to play a pivotal role in the future directions of nanomedicine. These interactions lead to diverse processes such as generation of protein coronas, nano-bio ... -
A high-sensitivity electrochemiluminescence-based ELISA for the measurement of the oxidative stress biomarker, 3-nitrotyrosine, in human blood serum and cells
(Elsevier, 2018-03-16)The generation of 3-nitrotyrosine, within proteins, is a post-translational modification resulting from oxidative or nitrative stress. It has been suggested that this modification could be used as a biomarker for inflammatory ... -
Marked intrafamilial variability of exocrine and endocrine pancreatic phenotypes due to a splice site mutation in GATA6
(Taylor & Francis with Diagnosis Press, 201-11-09)The objective of this study was to describe the clinical characteristics of syndromic neonatal diabetes in a family with a GATA6 mutation. A girl, currently aged 12 years 3 months, was born with intrauterine growth ... -
Monogenic Diabetes Not Caused By Mutations in Mody Genes: A Very Heterogenous Group of Diabetes
(Thieme Publishing, 2017-11-28)Monogenic diabetes represents a heterogeneous group of disorders resulting from a single gene defect leading to disruption of insulin secretion or a reduction in the number of beta cells. Despite the classification of ... -
Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome
(Springer Verlag, 2018-02-15)AIMS/HYPOTHESIS: Diabetes is one of the cardinal features of thiamine-responsive megaloblastic anaemia (TRMA) syndrome. Current knowledge of this rare monogenic diabetes subtype is limited. We investigated the genotype, ... -
Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1
(Wiley for International Society for Pediatric and Adolescent Diabetes (ISPAD), 2018-03-27)The basic helix‐loop‐helix (bHLH) transcription factor, neuronal differentiation 1 (NEUROD1) (also known as BETA2) is involved in the development of neural elements and endocrine pancreas. Less than 10 reports of adult‐onset ... -
The Clinical Course of Patients with Preschool Manifestation of Type 1 Diabetes Is Independent of the HLA DR-DQ Genotype
(MDPI, 2017-05-19)INTRODUCTION: Major histocompatibility complex class II genes are considered major genetic risk factors for autoimmune diabetes. We analysed Human Leukocyte Antigen (HLA)DRandDQhaplotypes in a cohort with early-onset (age ... -
Elevated polygenic burden for autism is associated with differential DNA methylation at birth
(BioMed Central, 2018-03-28)Autism spectrum disorder (ASD) is a severe neurodevelopmental disorder characterized by deficits in social communication and restricted, repetitive behaviors, interests, or activities. The etiology of ASD involves both ... -
The WNK-regulated SPAK/OSR1 kinases directly phosphorylate and inhibit the K+-Cl- co-transporters
(Portland Press for Biochemical Society, 2014-03-15)Precise homoeostasis of the intracellular concentration of Cl- is achieved via the co-ordinated activities of the Cl- influx and efflux. We demonstrate that the WNK (WNK lysine-deficient protein kinase)-activated SPAK ... -
Critical role of the SPAK protein kinase CCT domain in controlling blood pressure
(Oxford University Press (OUP), 2015-08-15)The STE20/SPS1-related proline/alanine-rich kinase (SPAK) controls blood pressure (BP) by phosphorylating and stimulating the Na-Cl (NCC) and Na-K-2Cl (NKCC2) co-transporters, which regulate salt reabsorption in the kidney. ... -
Bone loss in KLHL3 knock-in mice characterized by a pseudohypoaldosteronism type II-like phenotype is mediated by renal PTH resistance
(BioScientifica, 2016-05-01)Pseudohypoaldosteronism type II (PHAII) is a hereditary disease characterized by hypertension, hypercalciuria and osteopenia. PHAII is caused by mutations in with-no-lysine kinase 1 (WNK1), WNK4, or the cullin RING ligase ...