نتایج جستجو برای: onset diabetes of the young mody
تعداد نتایج: 22867488 فیلتر نتایج به سال:
Maturity-onset diabetes of the young (MODY) is a clinically and genetically heterogeneous subgroup of nonautoimmune diabetes, constituting 1–2% of all diabetes. Because little is known about incretin function in patients with MODY, we studied the incretin effect and hormone responses to oral and intravenous glucose loads in patients with glucokinase (GCK)-diabetes (MODY2) and hepatocyte nuclear...
Renal malformations may be linked to mutations in the hepatocyte nuclear factor-1alpha (MODY3) gene.
M aturity-onset diabetes of the young (MODY) is an autosomaldominant form of disease characterized by -cell defects and early age of diagnosis. So far, six MODY genes have been identified (1,2). MODY is sometimes accompanied by extrapancreatic features such as developmental malformations and physiological and biochemical abnormalities (3). The most frequent MODY3 subtype is caused by mutations ...
Maturity onset diabetes of the young is a dominantly inherited form monogenic diabetes, diagnosed mainly before age 35 years. Mutations in HNF1A and HNF4A genes are associated with mellitus HNF1A-MODY HNF4A-MODY subtypes, respectively. These two forms MODY characterized by dyslipidemia addition to impaired glucose metabolism due altered function proteins. The aim this study was genetic analysis...
Ghrelin is a hormone that regulates appetite. It is likely to be involved in the pathophysiology of varying forms of diabetes. In animal studies, the ghrelin expression was regulated by the hepatocyte nuclear factor 1 alpha (HNF1A). Mutations of the HNF1A gene cause maturity onset diabetes of the young (MODY). We aimed to assess the circulating ghrelin levels in HNF1A-MODY and in other types of...
Background Maturity-onset diabetes of the young (MODY) represents about 3-5% of cases of diabetes mellitus (DM). Searching for mutations can be performed either by Sanger sequencing or Multiplex Ligation-dependent Probe Amplification (MLPA) technique. MLPA is a powerful molecular tool that identifies large genetic rearrangements such as deletions and insertions, even though these kinds of mutat...
A recent genome-wide association study identified hepatocyte nuclear factor 1-α (HNF1A) as a key regulator of fucosylation. We hypothesized that loss-of-function HNF1A mutations causal for maturity-onset diabetes of the young (MODY) would display altered fucosylation of N-linked glycans on plasma proteins and that glycan biomarkers could improve the efficiency of a diagnosis of HNF1A-MODY. In a...
Abstract Background A retrospective observational study was conducted to assess the prevalence of maturity onset diabetes young (MODY) in a large paediatric population Southern Italy newly diagnosed with diabetes. Clinical and genetic features identified MODY patients were also described. Methods Genetic testing performed children adolescents who presented autoantibody negativity fasting C-pept...
Type 2 diabetes mellitus is a common disabling disease with onset in middle-aged individuals, caused by an imbalance between insulin production and action. Genetic studies point to major genetic components, but, with the exception of maturity-onset diabetes of the young (MODY), specific diabetes susceptibility genes remain to be identified. Recent studies showed that a dominant negative mutatio...
adolescents and young adults and their problems is an issue whose importance is obvious to anyone because youth are the founders of our countrys future and requires proper planning to be on leisure. given the importance of leisure,this study to investigate needs assessment and planning how adolescents and young adults spend their leisure time in urban of case study of high school girls and boys...
OBJECTIVE Hepatocyte nuclear factor 1-α (HNF1A)/hepatocyte nuclear factor 4-α (HNF4A) maturity-onset diabetes of the young (MODY) is frequently misdiagnosed as type 1 diabetes, and patients are inappropriately treated with insulin. Blood C-peptide can aid in the diagnosis of MODY, but practical reasons limit its widespread use. Urinary C-peptide creatinine ratio (UCPCR), a stable measure of end...
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