نتایج جستجو برای: agpat2 mutation
تعداد نتایج: 291444 فیلتر نتایج به سال:
we studied 74 patients with lebers hereditary optic neuropathy (lhon) to investigate causative mtdna mutations (g3460a, g11778a, t14484c, g4459a) in iranian lhon patients. fifty two patients carried the mitochondrial dna (mtdna) g11778a mutation, while one had the t14484c mutation 4 patients had the g3460a mutation and one had the g14459a mutation. our results showed a similarity in the pattern...
ABSTRACTTuberculosis is an infectious disease which occurs widely in the world and becomes one of the top 10 causes of death worldwide. Mutations of the RpoB gene cause the resistance of Mycobacterium tuberculosis to rifampicin that contributes to the occurrence of MDR-TB. This study aimed to determine the pattern of rpoB gene polymorphisms in the MDR M. tuberculosis in Semarang, Indonesia. Mos...
Hypohidrotic ectodermal dysplasia (HED) is a rare congenital disorder arising from deficient development of ectoderm-derived structures including skin, nails, glands and teeth. The phenotype of HED is associated with mutation in EDA, EDAR, EDARADD and NEMO genes, all of them disruptingNF-κB signaling cascade necessary for initiation, formation and differentiation in the embryo and adult. ...
abstract: chronic lymphocyte leukemia (cll) is the most common leukemia in elderly individuals that is accompanied by the presence of cd5/cd19/cd20/cd23 positive, fmc7 negative and reduced levels of surface membrane immunoglobuline (igm & igd), cd79b on b lymphocytes in the blood, bone marrow and lymph nodes. remarkably, based on the mutational igvh status, b-cll cases can be subdivided into tw...
Background and purpose: Beta-thalassemia is an autosomal recessive disease characterized by reduction or complete absence of beta-globin gene expression. This study aimed to find out and determine the spectrum of beta-globin gene mutations and especially rare mutation in beta-carrier couple in Babolsar, north region of Iran. This is very important in perinatal diagnosis of thalassemia. Materia...
Introduction: P53 is a tumor suppressor protein with numerous missense mutations identified in its gene. These mutations are observed in a vast number of cancers. R213G is one of them which has a role in metastatic lung cancers. In this research, R213G was studied in comparison with the wild type via molecular dynamics simulation. Method: For the three-dimensional structure of the wild-type P53...
Glucose-6-Phosphate Dehydrogenase (G6PD) is a cytosolic enzyme which its main function is to produce NADPH in the red blood cells by controlling the step from Glucose-6-Phosphate to 6-Phospho gluconate in the pentose phosphate pathway. G6PD deficiency is the most common X-chromosome linked hereditary enzymopathy in the world, that result in reduced enzyme activity and more than 125 different mu...
Neurofibromatosis is a genetic disorder that causes tumors in nerve tissue. These tumors can grow in any part of the nervous system, including the brain, spinal cord and nerves. The disease gene can be passed from a parent to a child through marked autosomal dominant inheritance or it can happen due to a spontaneous mutation of a gene. A parent with neurofibromatosis has a 50% chance of passing...
Epidemiological studies have associated environmental exposure to polychlorinated biphenyls (PCBs) with an increased risk of type 2 diabetes; however, little is known about the underlying mechanisms involved in the metabolic side-effects of PCB. Our study evaluated the transcriptional effects of a subchronic exposure (gavage at Day 0 and Day 15 with 10 or 100 μmol/Kg bw) to PCB118 (dioxin-like ...
Human lipodystrophies represent a heterogeneous group of diseases characterized by generalized or partial fat loss, with fat hypertrophy in other depots when partial. Insulin resistance, dyslipidemia and diabetes are generally associated, leading to early complications. Genetic forms are uncommon: recessive generalized congenital lipodystrophies result in most cases from mutations in the genes ...
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