نتایج جستجو برای: nd4l gene mutation
تعداد نتایج: 1284724 فیلتر نتایج به سال:
Mutation in homologous recombination repair (HRR) pathway is well established ovarian cancers. Multiple trials have shown variable efficacy prostate Mutations other than BRCA1/BRCA2 been recently reported We describe a unique case of an elderly male with metastatic castration-resistant cancer. He responded to hormonal therapy for 6 months but later progressed. Chemotherapy docetaxel produced se...
staphylococcus aureus carrying pvl gene remain major health problem associated with highly virulent infections. characterization of such gene is important to know the impact and the functional significance of nucleotide variations. pcr and standard sequencing were performed for twelve sudanese strains from different sources. protein structures prediction, modeling and physiochemical analysis we...
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common hereditary enzymatic disorders in human, increases the vulnerability of erythrocytes to oxidative stress. It is also characterized by remarkable molecular and biochemical heterogeneity. According to previous investigations, G6PD Cosenza (G1376C) is a common G6PD mutation in some parts of Iran. Therefore in the present...
pelizaeus-merzbacher-like disease (pmld) is a hypomyelinating leukoencephalopathy disorder with a genetically heterogeneous pattern. mutations in the gja12/gjc2 gene cause one form of autosomal recessive pelizaeus-merzbacher-like disease. here, we report a new mutation in a 10-month-old girl with nystagmus, psychomotor delay, hypotonicity, head nodding and dysmyelination from healthy second ...
chronic granulomatous disease (cgd) is a rare primary immunodeficiency disorder due to a genetic defect in one of the components of nicotinamide adenine dinucleotide phosphate (nadph) oxidase complex. this complex is composed of membrane-bound gp91- phox and p22- phox subunits, and cytosolic subunits consisting of p47- phox , p67- phox , and p40- phox . a mutation in cybb gene encoding gp91- ph...
Background & Aims: Genetic mutation, 1691G> A common polymorphism in a gene that is inherited coagulation Factor 5 is associated with increased risk of thrombosis. This mutation in different populations can develop in the prognosis of thrombotic disorders, cardiovascular disorders recurrent miscarriage and other thrombotic factors are useful. Study using appropriate strategies such as review o...
Background and Objective: BRAF mutations were studied in various populations for prostate carcinoma (PC); however, mutations in BRAF gene are unusual compared to KRAS. Oncogenic activating of BRAF mutations were studied lately in almost 0%-10% of prostate cancer cases. Methods: In this retrospective study, we gathered 100 formalin-fixed ...
Background: Colorectal cancer is one of the most common types of cancer and the cause of death of a large number of patients and requires investigating the causes of the disease and adopting targeted therapies. Considering the diagnostic, therapeutic, and prognostic significance of genetic markers, in the present study BRAF-V600E gene mutation was evaluated in tissue samples of colorectal cance...
Abstract Background and aim: The frequency of hearing impairment is one out of 500 newborn babies, worldwide. However, in Iran, due to the high prevalence of consanguineous marriages, this amount is estimated to be two to three times higher. So far, more than 120 genes causing non-syndromic Hearing loss (NSHL) have been identified in the world, of which GJB2 gene mutations are the most common c...
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