2014 RD&E publications
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A summary list of all RD&E research outputs published or issued in 2014.
Recent Submissions
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Is C-reactive protein useful in prognostication for colorectal cancer? A systematic review.
(Wiley, 2014-10)With the advent of several different therapeutic strategies to manage the different stages of colorectal cancer, it would be beneficial to allow substratification of patients into groups who are most likely to benefit from ... -
Acute bronchodilator responses decline progressively over 4 years in patients with moderate to very severe COPD.
(BioMed Central, 2014-08-31)We previously reported a progressive decline in absolute responses of FEV1 and FVC to a near-maximal dose of 2 different short-acting bronchodilators over 4 years. Since varying host factors and the method of expressing ... -
Management of extensive intraparotid vascular malformation: a case report
(Wolters Kluwer, 2014-06) -
Acute double flexor tendon ruptures following injection of collagenase clostridium histolyticum (Xiapex) for Dupuytren's contracture.
(BMJ, 2014)We report a case of acute (24 h) double flexor tendon rupture of the little finger after a single injection of collagenase clostridium histolyticum into a palmar Dupuytren's contracture cord which caused metacarpophalangeal ... -
Defining the role of common variation in the genomic and biological architecture of adult human height
(Nature, 2014-11)Using genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide significance that together explained one-fifth of the heritability for adult height. By testing different numbers of variants in ... -
Permanent neonatal diabetes misdiagnosed as type 1 diabetes in a 28-year-old female: a life-changing diagnosis.
(Elsevier, 2014-11)Many patients with monogenic diabetes are missed or misclassified. Herein, we report a 28-year-old Indian female who developed diabetes at the age of 3 months. An audit of our type 1 diabetes database led to her genetic ... -
Identifying good responders to glucose lowering therapy in type 2 diabetes: implications for stratified medicine.
(PLoS, 2014)Defining responders to glucose lowering therapy can be important for both clinical care and for the development of a stratified approach to diabetes management. Response is commonly defined by either HbA1c change after ... -
Neurogenin 3 is important but not essential for pancreatic islet development in humans.
(Springer, 2014-11) -
Physiology helps GWAS take a step closer to mechanism.
(American Diabetes Association, 2014-06) -
Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty.
(Oxford Journals, 2014-08-15)Little is known about genes regulating male puberty. Further, while many identified pubertal timing variants associate with age at menarche, a late manifestation of puberty, and body mass, little is known about these ... -
Simulation of Finnish population history, guided by empirical genetic data, to assess power of rare-variant tests in Finland.
(Cell Press, 2014-05-01)Finnish samples have been extensively utilized in studying single-gene disorders, where the founder effect has clearly aided in discovery, and more recently in genome-wide association studies of complex traits, where the ... -
Quality control and conduct of genome-wide association meta-analyses.
(Nature Protocols, 2014-05)Rigorous organization and quality control (QC) are necessary to facilitate successful genome-wide association meta-analyses (GWAMAs) of statistics aggregated across multiple genome-wide association studies. This protocol ... -
Effect of the holiday season in patients with diabetes: glycemia and lipids increase postholiday, but the effect is small and transient.
(American Diabetes Association, 2014) -
GATA4 mutations are a cause of neonatal and childhood-onset diabetes.
(American Diabetes Association, 2014-08)The GATA family zinc finger transcription factors GATA4 and GATA6 are known to play important roles in the development of the pancreas. In mice, both Gata4 and Gata6 are required for pancreatic development. In humans, GATA6 ... -
Home urine C-peptide creatinine ratio can be used to monitor islet transplant function.
(American Diabetes Association, 2014-06)Islet graft function is defined by serum C-peptide in a standardized challenge test. We assessed whether urine C-peptide creatinine ratio (UCPCR) sent from home could provide a viable alternative. -
Lifecourse: management of type 1 diabetes.
(Elsevier, 2014-03) -
The 0.1% of the population with glucokinase monogenic diabetes can be recognized by clinical characteristics in pregnancy: the Atlantic Diabetes in Pregnancy cohort.
(American Diabetes Association, 2014-02)Identifying glucokinase monogenic diabetes (GCK-MODY) in pregnancy is important, as management is different from management for other forms of gestational diabetes mellitus (GDM) and there is no increased maternal risk of ... -
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 ... -
Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations.
(European Society of Endocrinology, 2014-12)Congenital hyperinsulinism (CHI) has two main histological types: diffuse and focal. Heterozygous paternally inherited ABCC8/KCNJ11 mutations (depending upon whether recessive or dominant acting and occurrence of somatic ...
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