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Now showing items 239-258 of 649
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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 ... -
GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency.
(Highwire, 2013-03)We recently reported de novo GATA6 mutations as the most common cause of pancreatic agenesis, accounting for 15 of 27 (56%) patients with insulin-treated neonatal diabetes and exocrine pancreatic insufficiency requiring ... -
GCK gene mutations are a common cause of childhood-onset MODY (maturity-onset diabetes of the young) in Turkey.
(Wiley, 2016-09)Inactivating heterozygous mutations in the GCK gene are a common cause of MODY and result in mild fasting hyperglycaemia, which does not require treatment. We aimed to identify the frequency, clinical and molecular features ... -
Genetic characteristics, clinical spectrum, and incidence of neonatal diabetes in the Emirate of AbuDhabi, United Arab Emirates.
(Wiley, 2016-03)Neonatal diabetes mellitus (NDM) can be transient (TNDM) or permanent (PNDM). Data on NDM from the Gulf region are limited to few studies on PNDM.The objective of this study was to describe the genetic and clinical spectrum ... -
Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patients
(BioMed Central, 2014-07-01)BACKGROUND: Williams syndrome (WS) is a rare neurodevelopmental disorder arising from a hemizygotic deletion of approximately 27 genes on chromosome 7, at locus 7q11.23. WS is characterised by an uneven cognitive profile, ... -
A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin-treated patients.
(Wiley, 2009-04)Hepatocyte nuclear factor-1 alpha (HNF1A) gene mutations are the commonest cause of monogenic diabetes, but patients are often misdiagnosed as having Type 1 diabetes and started on insulin treatment. Patients with HNF1A ... -
Genetic mutations associated with neonatal diabetes mellitus in Omani patients.
(De Gruyter, 2018-01-12)Neonatal diabetes mellitus (NDM) is a rare disorder worldwide where diabetes is diagnosed in the first 6 months of life. However, Oman has a relatively high incidence of NDM. -
Genome Sequence of Staphylococcus aureus Ex1, Isolated from a Patient with Spinal Osteomyelitis.
(American Society for Microbiology, 2018-06-28)Here, we present the genome sequence of Staphylococcus aureus Ex1, isolated in 2015 from a patient with spinal osteomyelitis at the Royal Devon and Exeter Hospital in the United Kingdom. The availability of the Ex1 genome ... -
Genome, Exome, and Targeted Next-Generation Sequencing in Neonatal Diabetes.
(Elsevier, 2015-08)The use of targeted gene panels now allows the analysis of all the genes known to cause a disease in a single test. For neonatal diabetes, this has resulted in a paradigm shift with patients receiving a genetic diagnosis ... -
Genomic variant sharing: a position statement
(Wellcome, 2019-02)Sharing de-identified genetic variant data via custom-built online repositories is essential for the practice of genomic medicine and is demonstrably beneficial to patients. Robust genetic diagnoses that inform medical ... -
Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia.
(BioMed Central, 2015)Hyperinsulinaemic hypoglycaemia (HH) is a group of clinically and genetically heterogeneous disorders characterized by unregulated insulin secretion. Abnormalities in nine different genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, ... -
Giant coronary artery aneurysms in a 12-week-old infant with incomplete Kawasaki disease.
(BMJ, 2018-03-28)Kawasaki disease (KD) is an acute inflammatory vasculitis that occurs worldwide and disproportionately affects male children, most commonly between the ages of 6 months and 5 years. KD can present with only a few features ... -
Glycosylation is an androgen-regulated process essential for prostate cancer cell viability
(Elsevier, 2016-04-20)Steroid androgen hormones play a key role in the progression and treatment of prostate cancer, with androgen deprivation therapy being the first-line treatment used to control cancer growth. Here we apply a novel search ... -
The governance structure for data access in the DIRECT consortium: an innovative medicines initiative (IMI) project.
(Springer, 2018-09-04)Biomedical research projects involving multiple partners from public and private sectors require coherent internal governance mechanisms to engender good working relationships. The DIRECT project is an example of such a ... -
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging
(CSHL Press, 2019-07)Germline mutations in fundamental epigenetic regulatory molecules including DNA methyltransferase 3 alpha (DNMT3A) are commonly associated with growth disorders, whereas somatic mutations are often associated with malignancy. ... -
Guidance for the decontamination of intracavity medical devices: The report of a working group of the Healthcare Infection Society.
(Elsevier, 2018-08-06)Intracavity medical devices (ICMD) are used in a wide variety of healthcare settings. The approach to their decontamination and the resources available also differ widely. Their potential for infection transmission is ... -
Guidelines for the use of platelet transfusions.
(Wiley, 2016-12-23)