نتایج جستجو برای: onset diabetes of the young mody
تعداد نتایج: 22867488 فیلتر نتایج به سال:
Glucokinase (GCK) is an enzyme that regulates insulin secretion, keeping glucose levels within a narrow range. Mutations in the glucokinase gene cause a rare form of diabetes called maturity-onset diabetes of the young (MODY). An early onset (less than 25 years), autosomal dominant inheritance and low insulin secretion stimulated by glucose characterize MODY patients. Specific insulin and proin...
OBJECTIVE Insulin gene (INS) mutations have recently been described as a cause of permanent neonatal diabetes (PND). We aimed to determine the prevalence, genetics, and clinical phenotype of INS mutations in large cohorts of patients with neonatal diabetes and permanent diabetes diagnosed in infancy, childhood, or adulthood. RESEARCH DESIGN AND METHODS The INS gene was sequenced in 285 patien...
AIMS To estimate the UK prevalence of childhood type 2 diabetes and maturity onset diabetes of the young (MODY), and distinguish them from each other and from type 1 diabetes. METHODS The British Society for Paediatric Endocrinology and Diabetes Clinical Trials/Audit Group undertook a cross-sectional questionnaire survey of all paediatric diabetes centres during 2000, collecting data on all c...
OBJECTIVE To determine the prevalence of monogenic diabetes in an Australian community. DESIGN Longitudinal observational study of a cohort recruited between 2008 and 2011. SETTING Urban population of 157 000 people (Fremantle, Western Australia). PARTICIPANTS 1668 (of 4639 people with diabetes) who consented to participation (36.0% participation). MAIN OUTCOME MEASURES Prevalence of ma...
The rapid progress of genomic technologies has been providing new opportunities to address the need of maturity-onset diabetes of the young (MODY) molecular diagnosis. However, whether a new mutation causes MODY can be questionable. A number of in silico methods have been developed to predict functional effects of rare human mutations. The purpose of this study is to compare the performance of ...
INTRODUCTION Maturity-onset diabetes of the young (MODY) is a heterogenous group of disorders characterized by an early onset of insulin-independent diabetes mellitus, an autosomal dominant mode of inheritance and a primary defect in beta-cell. There are six subtypes of MODY. MODY2 and MODY3 are the most frequent. CASE OUTLINE We present a nine-year-old boy with intermittent hyperglycaemia. A...
Non-insulin-dependent diabetes in the young (NIDDY) may be defined as diabetes occurring in patients less than 25 (or 30 years) of age, which does not require insulin for adequate metabolic control [1]. A special form of NIDDY is known as maturity-onset diabetes of the young (MODY) (2]. In this entity patients have the clinical features of NIDDY, but in addition the diabetes is inherited in an ...
Glucokinase maturity-onset diabetes of the young (GCK-MODY) represents a distinct subgroup of MODY that does not require hyperglycemia-lowering treatment and has very few diabetes-related complications. Three patients from two families who presented with clinical signs of GCK-MODY were evaluated. Whole-exome sequencing was performed and the effects of the identified mutations were assessed usin...
BACKGROUND Mutations in the transcription factor hepatocyte nuclear factor-1-alpha (HNF1A) result in the commonest type of maturity onset diabetes of the young (MODY). HNF1A-MODY carriers have reduced pancreatic beta cell mass, partially due to an increased rate of apoptosis. To date, it has not been possible to determine when apoptosis is occurring in HNF1A-MODY.We have recently demonstrated t...
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