نتایج جستجو برای: mody
تعداد نتایج: 686 فیلتر نتایج به سال:
Abstract A young female patient, diagnosed with diabetes mellitus at the age of 28 years old in 2009, carries KCNJ11 R136C by whole exome sequencing and her daughter doesn’t carry this mutation. Bioinformatics software predicted that 136th amino acid is highly conservative mutation deleterious. can result change channel port structure K ATP channel. So she was as -MODY.
hnf4a-p.i463vvariant, reported previously in two distinct families suspected of mody-1, is assessed in this report to determine whether it is a mutation or a polymorphism (frequency >1%).200 tunisian healthy people were screened for the presence of hnf4a-p.i463v variant, using rflp-pcr technique and sequencing. then, the frequency of this variant was estimated in the tunisian population and com...
Monogenic diabetes is commonly caused by single-gene mutations. This disease ranges from 1% to 5% in all cases of and less affected behavior environment. Neonatal mellitus (NDM) maturity-onset the young (MODY) account for a major proportion monogenic diabetes, while syndromic constitutes smaller proportion. Diagnosis has improved being based on clinical phenotypes molecular genetics, with signi...
Introduction Maturity Onset Diabetes of the Young 3 (MODY3) is the most common monogenic form of diabetes, characterized by early age of onset (before the age of 25), autosomal dominant transmission and severe defect in insulin secretion [1,2]. MODY accounts for 2-5% of Non-Insulin Dependent Diabetes Mellitus (NIDDM) cases, with MODY3 identified as the most common and severe form, accounting fo...
BACKGROUND : Monogenic diabetes mellitus (MDM) is a rare form of (DM) which caused by one or more mutations in the genes that cause pancreatic β-cell dysfunction. Despite sufficient knowledge most common subtypes MODY, cases MDM are undiagnosed and classified as type 1 2 mellitus. AIM To study clinical, laboratory characteristics, well age-related features GCK-MODY children. MATERIALS AND METHO...
1Sanat Kumar Bhuyan, 2RN Mody, 3Ruchi Bhuyan 1Professor, Department of Oral Medicine and Radiology, Institute of Dental Science, Sum Hospital, Bhubaneswar, Odisha, India 2Professor and Head, Department of Oral Medicine and Radiology, Hitkarani Dental College, Jabalpur, Madhya Pradesh, India 3Professor and Head, Department of Oral Pathology and Microbiology, Institute of Dental Science, Sum Hosp...
Submit Manuscript | http://medcraveonline.com Abbreviations: AGEs: Advanced Glycation End-products; ROS: Reactive Oxygen Species; DM: Diabetes Mellitus; RAGE: Receptors of AGEs; HLA: Human Leucocyte Antigen; GDM: Gestational Diabetes Mellitus; MODY: Maturity Onset Diabetes of the Young; SMBG: Self Monitoring Blood Glucose; HAS: Human Serum Albumin; HMA: Human Mercaptalbumin; PCO: Protein Carbon...
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...
OBJECTIVE Common variants in the melatonin receptor type 1B (MTNR1B) locus have been shown to increase fasting plasma glucose (FPG) and the risk of type 2 diabetes. The aims of this study were to evaluate whether nonsynonymous variants in MTNR1B associate with monogenic forms of hyperglycemia, type 2 diabetes, or related metabolic traits. RESEARCH DESIGN AND METHODS MTNR1B was sequenced in 47...
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