INTRODUCTION Congenital hyperinsulinism is a rare inherited disease caused by mutations in genes responsible for β-cell's function in glucose hemostasis leading to profound and recurrent hypoglycemia. The incidence of the disease is about 1 in 50000 newborns. Mutations in at least 8 genes have been reported to cause congenital hyperinsulinism. Mutations in ABCC8 gene are the most common cause o...

Background: Pathophysiology of type 2 diabetes mellitus (T2DM) is influenced by the complex interaction several genes that regulate energy metabolism in body. Several polymorphisms occur many gene encode components glucose regulation are significantly implicated onset T2DM.Methods: This case-control study. Case group with 58 subjects T2DM patients obesity and a control non-DM obese from ethnic ...

Introduction: Despite improvements in the diagnosis and treatment of lung cancer in the past two decades, it has remained the most common cause of death from cancer worldwide. Among all genes that are mutated in lung cancer, TP53 located on chromosome 17P13/1 has a significant diagnostic and prognostic value. TP53 mutations have been extensively studied in lung cancer and TP53 mutational spectr...

ATP-sensitive potassium (KATP) channels link cell metabolism to membrane excitability and are involved in a wide range of physiological processes including hormone secretion, control of vascular tone, and protection of cardiac and neuronal cells against ischemic injuries. In pancreatic β-cells, KATP channels play a key role in glucose-stimulated insulin secretion, and gain or loss of channel fu...

Sickle cell disease and its variants constitute the most common inherited blood disorders affecting millions of individuals worldwide. Significant information regarding nature genetic mutations modifier genes that result in increased or decreased severity are available. In recent years, detailed data molecular genetics, pathophysiology, mechanisms for development symptoms side effects sickle ha...

Gain-of-function mutations in the genes encoding the ATP-sensitive potassium (K(ATP)) channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) are a common cause of neonatal diabetes mellitus. Here we investigate the molecular mechanism by which two heterozygous mutations in the second nucleotide-binding domain (NBD2) of SUR1 (R1380L and R1380C) separately cause neonatal diabetes. SUR1 is a channel re...

background: germ-line mutations of brca1 and brca2 genes are responsible for approximately 25-30% of dominantly inherited familial breast cancers; still a big part of genetic component is unknown. the aim of this study was to investigate genetic causes of familial breast cancer in a pedigree with recessive pattern of inheritance. methods: we applied exome sequencing as a useful approach in hete...

Intrahepatic cholestasis represents a heterogeneous group of disorders that begin during childhood, most commonly manifesting as neonatal cholestasis, and lead to ongoing liver dysfunction in children and adults. For children, inherited pathogenic factors of cholestasis have gained increasing attention owing to the rapid development of molecular biology technology. However, these methods have t...