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Diagnostic genetic testing for monogenic diabetes and congenital hyperinsulinemia
(Springer, 2020-01)Monogenic diabetes and hyperinsulinism are genetically heterogeneous disorders. The determination of the genetic etiology defines the diagnostic subtype, predicts prognosis, and importantly can guide clinical management. ... -
Assessment of MTNR1B type 2 diabetes genetic risk modification by shift work and Morningness-Eveningness preference in the UK Biobank
(American Diabetes Association, 2020-02)Night shift work, behavioral rhythms, and the common MTNR1B risk single nucleotide polymorphism (SNP), rs10830963, associate with type 2 diabetes; however, whether they exert joint effects to exacerbate type 2 diabetes ... -
In situ analysis reveals that CFTR is expressed in only a small minority of β-Cells in normal adult human pancreas
(Endocrine Society, 2020-05)Although diabetes affects 40% to 50% of adults with cystic fibrosis, remarkably little is known regarding the underlying mechanisms leading to impaired pancreatic β-cell insulin secretion. Efforts toward improving the ... -
Residual adrenal function in Autoimmune Addison’s Disease—effect of dual therapy with rituximab and depot tetracosactide
(Endocrine Society, 2020-04)In autoimmune Addison's disease (AAD), exogenous glucocorticoid (GC) therapy is an imperfect substitute for physiological GC secretion. Patients on long-term steroid replacement have increased morbidity, reduced life ... -
Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors
(Endocrine Society, 2020-06-01)Context Germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene are responsible for a subset of familial isolated pituitary adenoma (FIPA) cases and sporadic pituitary neuroendocrine tumors ... -
Prediction algorithms: pitfalls in interpreting genetic variants of autosomal dominant monogenic diabetes
(American Society for Clinical Investigation, 2020-01) -
Somatostatin secretion by Na+-dependent Ca2+-induced Ca2+ release in pancreatic delta cells
(Springer Nature, 2020-01-20)Pancreatic islets are complex micro-organs consisting of at least three different cell types: glucagon-secreting alpha, insulin-producing beta and somatostatin-releasing delta cells1. Somatostatin is a powerful paracrine ... -
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 ... -
De Novo Mutations in EIF2B1 Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic Dysfunction
(American Diabetes Association, 2020-03)Permanent neonatal diabetes mellitus (PNDM) is caused by reduced β-cell number or impaired β-cell function. Understanding of the genetic basis of this disorder highlights fundamental β-cell mechanisms. We performed trio ... -
Heterozygous Insulin Receptor ( INSR) Mutation associated with Neonatal Hyperinsulinemic Hypoglycaemia and Familial Diabetes Mellitus: Case Series
(Galenos Yayinevi, 2020-01-28)Mutations in the insulin receptor (INSR) gene are associated with insulin resistance and hyperglycaemia. Various autosomal dominant heterozygous INSR mutations leading to hyperinsulinemic hypoglycaemia (HH) have been ...