نتایج جستجو برای: single point mutation
تعداد نتایج: 1576603 فیلتر نتایج به سال:
an interactive application, modelface, was presented for modeller software based on windows platform. the application is able to run all steps of homology modeling including pdb to fasta generation, running clustal, model building and loop refinement. other modules of modeler including energy calculation, energy minimization and the ability to make single point mutations in the pdb structures a...
انمی داسی شکل و ا نمی کولی جز شایع ترین بیماریهای وراثتی در انسان ها در سرتاسر دنیا بوده که هزینه های درمانی هنگفتی را بر بیماران و سیستم بهداشتی کشورها می گذارد. انمی داسی شکل اولین اختلال ژنتیکی بوده که در حدود 58 سال پیش مکانیسم ژنتیکی اش توصیف شده و اختلالش ناشی از یک point mutation در زنجیره بتای همو گلوبین می باشد که سبب dysfunction پروتین هموگلوبین شده و عامل عوارض بالینی در مبتلایان می ...
jak2 is a tyrosine kinase that plays an important role in the signaling pathways of many hematopoietic growth factor receptors. a single acquired point mutation – v617f – in jak2 occurs in the great majority of patients with polycythemia vera (pv) and approximately half of the patients with idiopathic myelofibrosis (imf) or essential thrombocythemia (et). in contrast, the jak2-v617f mutation is...
Background: KDM3A is a key epigenetic regulator that is expressed in the testis and is required for packaging and condensation of sperm chromatin. To this point, the association of the KDM3A gene and infertility has not been studied in human. The aim of this study was to screen any new mutation in KDM3A gene to explore more details of human male infertility. Methods: In this work, 150 infertile...
Background: DNA polymerase β (pol β) is a key enzyme of base excision repair pathway. It is a 1-kb gene consisting of 14 exons. Its catalytic part lies between exon 8 and exon 14. Exon 12 has a role in deoxyribonucleotide triphosphate selection for nucleotide transferase activity. Methods: Genomic DNA was isolated from ovarian carcinoma samples. Single strand conformation polymorphism...
conclusions we concluded from the results that the frequency of emb-resistant m. tuberculosis cases in iran is lower than that of many other regions. the pcr-sscp technique can separate resistant isolates from sensitive isolates. the sequencing results of this study showed mutation in codons 309 and 299 of the embb gene. in none of the resistant isolates, mutation was observed in codon 306. fur...
results of the 135 h. pylori-positive specimens, two harbored strains with the a2143g mutation and nine contained strains with the a2144g mutation. thus, the prevalences of the a2143g and a2144g point mutations were 1.5% and 6.7%, respectively. the a2143c point mutation was not found. conclusions the prevalences of the point mutations a2143g and a2144g were low in our geographic area. based on ...
introduction: haemophilia a is the most common inherited x-linked recessive bleeding disorder. the severity of the resultant bleeding diathesis depends on the fviii levels associated with the mutation. analysis of carrier state can be made indirectly by dna linkage analysis or directly by identifying the mutation that leads to the disease. the aim of this study was to identification of the caus...
background: rna plays key role in many aspects of biological processes and its tertiary structure is critical for its biological function. rna secondary structure represents various significant portions of rna tertiary structure. since the biological function of rna is concluded indirectly from its primary structure, it would be important to analyze the relations between the rna sequences and t...
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