نتایج جستجو برای: mutation analysis
تعداد نتایج: 3045422 فیلتر نتایج به سال:
Background : Familial Mediterranean fever (FMF) is an autosomal recessive disease, which is characterized by recurrent short episodes of inflammation in serous membranes. It is most prevalent in Western Mediterranean population. MEFV is the only gene currently known to be associated with this disease. Previous studies revealed that 6% of Iranian Jewish residents in Israel were carriers of MEFV ...
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. ...
background: cystic fibrosis (cf) is a common autosomal recessive disorder that affects many body systems and is produced by mutations in the cystic fibrosis transmembrane conductance regulator (cftr) gene. cf is also the most frequently inherited disorder in the west. the aim of this study was to detect the mutations in the cftr gene in two iranian families with cf. methods: after dna extractio...
Background: Recurrent hydatidiform moles (RHMs) are an unusual pregnancy with at least two molar gestations that are associated with abnormal proliferation of trophoblastic tissue and a failure in the embryonic tissues development. Three maternal-effect genes, including NLRP7, KHDC3L, and PADI6 have been identified as the cause of RHMs. The present study aimed to understand the association of a...
Mutations in the ergosterol biosynthesis gene 11 (ERG11) of Candida albicans have been frequently reported in fluconazole-resistant clinical isolates. Exploring the mutations and their effect could provide new insights into the underlying mechanism of fluconazole resistance. Erg11p_Threonine285Alanine (Erg11p_THR285ALA), Erg11p_Leucine321Phenylalanine (Erg11p_LEU321PHE) and Erg11p_Serine457Pro...
Background and Aim: FLT3 gene is a member of class III receptor Tyrosine Kinase, which is expressed in most patients with acute myeloid leukemia (AML). Mutations of FLT3 such as Internal Tandem Duplication (ITD) and point mutation of the D835 are the most common genetic defects in myeloid leukemia. These two mutations in patients with MLA and their effect on survival rate were studied for the f...
Background: We aimed to investigate the etiologic causes and the existence of Janus kinase 2 mutation (JAK2) in cases with thrombocytosis. Methods: In this retrospective study, patients, who were admitted to hematology clinic with thrombocytosis between 2013 and 2015, were investigated in terms of the etiological causes of thrombocytosis and the existence of JAK2 mutation. Results: We retrospe...
Purpose: The aim of this study was cloning the Gba enzyme in pUCBM21 plasmid, and making frame mutation on it and sequencing it. Materials and methods: mRNA was extracted from mouse spleen and glucocerebrosidase cDNA was synthesized and amplified by PCR with specific primers. cDNA was cloned in pUCBM21 and analyzed by restriction enzymes. A fragment of its sequence was deleted using MscI restr...
conclusions according to this study, igvh3 mutation was found to be prevalent (although a correlation was found to exist between the patients’ survival and igvh mutation, it was not statistically significant). we can conclude that clinical methods are still valuable to predict the prognosis of patients with cll. given the high cost and need for specialized laboratory, determining the cost and v...
Hereditary hearing loss (HHL) comprises half of the congenital deafness which arises from genetic mutations. Mutations in the TJP2 gene, encoding tight junction protein 2, are one of the gene alterations in HHL resulting in an autosomal dominant nonsyndromic form of the disease. An 11-year-old male patient with clinically approved congenital hearing loss was referred to our laboratory....
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