نتایج جستجو برای: predominant mutations
تعداد نتایج: 215817 فیلتر نتایج به سال:
I N 1994 AIR FORCE Special Opera tions Com mand stood up the 6th Special Op era tions Squadron (6 SOS), the first- ever USAF squadron dedicated to the for eign inter nal defense (FID) mission area. With roots in special air warfare dating back to the Vietnam War and even as far back as the Second World War, the 6 SOS was created to advise, train, and assist for eign aviation forces in the ap...
We investigated mutations in the genes katG, inhA (regulatory and structural regions), and kasA and the oxyR-ahpC intergenic region of 97 isoniazid (INH)-resistant and 60 INH-susceptible Mycobacterium tuberculosis isolates obtained in two states in Brazil: São Paulo and Paraná. PCR-single-strand conformational polymorphism (PCR-SSCP) was evaluated for screening mutations in regions of prevalenc...
We review here those malformations of the cerebral cortex which are most often observed in epilepsy patients, for which a genetic basis has been elucidated or is suspected and give indications for genetic testing. There are three forms of lissencephaly (agyria-pachygyria) resulting from mutations of known genes, which can be distinguished because of their distinctive imaging features. They acco...
Background and Aim: About 13 beta-globin mutations encompass 70-90% of the mutation spectrum in Iran. These mutations are called common beta-globin mutations. The rest are rare or unknown mutations. The objective of this study was to identify the rare or unknown beta-globin mutations in Qazvin province. Materials and Methods: In this descriptive-analytic study, EDTA-containing venous blood...
Anticoagulant rodenticides are commonly used to control rodent pests worldwide. They specifically inhibit the vitamin K epoxide reductase (VKORC1), which is an enzyme encoded by the Vkorc1 gene, involved in the recycling of vitamin K. Therefore, they prevent blood clotting. Numerous mutations of Vkorc1 gene were reported in rodents, and some are involved in the resistant to rodenticides phenoty...
Genome-wide mutations induced by ethyl methanesulfonate (EMS) and gamma irradiation in the tomato Micro-Tom genome were identified by a whole-genome shotgun sequencing analysis to estimate the spectrum and distribution of whole-genome DNA mutations and the frequency of deleterious mutations. A total of ~370 Gb of paired-end reads for four EMS-induced mutants and three gamma-ray-irradiated lines...
BACKGROUND Colorectal cancer (CRC) is one of the leading causes of mortality and morbidity. The Kashmir valley, in Northern India, has been described as a high-risk area for colorectal cancer. AIM The aim was to make a preliminary attempt to study mutations in exons 5-8 (the DNA binding domain) of the tumour suppressor gene TP53 in 42 CRC patients from Kashmir. MATERIALS AND METHODS The stu...
BACKGROUND Hereditary spastic paraplegia (HSP) is a neurodegenerative disease characterized by progressive spasticity and weakness of the lower limbs. The most common form of HSP is caused by mutations in the SPG4 gene, which codes for spastin, an adenosine triphosphatase with various cellular activities (AAA) protein family member. OBJECTIVE To investigate a large collection of predominantly...
PURPOSE AND EXPERIMENTAL DESIGN The mutational spectrum of MADH4 (DPC4/SMAD4) opens valuable insights into the functions of this protein that confer its tumor-suppressive nature in human tumors. We present the MADH4 genetic status determined on a new set of pancreatic, biliary, and duodenal cancers with comparison to the mutational data reported for various tumor types. RESULTS Homozygous del...
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