Mutations including the promoter region of myocilin/TIGR gene
نویسندگان
چکیده
منابع مشابه
the study of aaag repeat polymorphism in promoter of errg gene and its association with the risk of breast cancer in isfahan region
چکیده: سرطان پستان دومین عامل مرگ مرتبط با سرطان در خانم ها است. از آنجا که سرطان پستان یک تومور وابسته به هورمون است، می تواند توسط وضعیت هورمون های استروئیدی شامل استروژن و پروژسترون تنظیم شود. استروژن نقش مهمی در توسعه و پیشرفت سرطان پستان ایفا می کند و تاثیر خود را روی بیان ژن های هدف از طریق گیرنده های استروژن اعمال می کند. اما گروه دیگری از گیرنده های هسته ای به نام گیرنده های مرتبط به ا...
15 صفحه اولSequencing And Bioinformatics Analysis of the Partial Promoter Region of Κ-Casein (CSN3) Gene in Iranian Bacterianus and Dromedaries Camels
κ-casein is a glycosilated protein belonging to a family of phosphoproteins (αs1,β, αs2,κ) that represents the major protein component in mammalian milk. κ-casein plays an essential role in the case of micelle stabilization, determining the size and the specific biological function. In the present study, we report the characterization of the partial sequence of κ-casein promoter region in the I...
متن کاملSequencing And Bioinformatics Analysis of the Partial Promoter Region of Κ-Casein (CSN3) Gene in Iranian Bacterianus and Dromedaries Camels
κ-casein is a glycosilated protein belonging to a family of phosphoproteins (αs1,β, αs2,κ) that represents the major protein component in mammalian milk. κ-casein plays an essential role in the case of micelle stabilization, determining the size and the specific biological function. In the present study, we report the characterization of the partial sequence of κ-casein promoter region in the I...
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severe congenital neutropenia (scn) is a rare primary immunodeficiency disease. different genes are found to be associated with scn, including ela2, hax1, was, gfi1, g-csfr and g6pc3. the aim of this study was to find different gene mutations responsible for scn in iranian patients. twenty-seven patients with scn referred to immunology, asthma and allergy r...
متن کاملMutations in promoter region of thrombomodulin and venous thromboembolic disease.
The present study was designed to analyze the thrombomodulin proximal promoter region spanning nucleotides -293 to -12 to search for polymorphisms that could modify thrombomodulin gene expression in patients with venous thromboembolic disease. The study population comprised 205 patients and 394 healthy subjects of similar age and sex distribution. No polymorphisms and only 1 point mutation (G-3...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2004
ISSN: 1018-4813,1476-5438
DOI: 10.1038/sj.ejhg.5201299