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Iranian Biomedical Journal، جلد ۲۳، شماره ۳، صفحات ۱۶۵-۱۷۴
عنوان فارسی
چکیده فارسی مقاله
کلیدواژه‌های فارسی مقاله
عنوان انگلیسی Factor VII Gene Defects: Review of Functional Studies and Their Clinical Implications
چکیده انگلیسی مقاله Coagulation factors belong to a family of plasma glycosylated proteins that should be activated for appropriate blood coagulation. Congenital deficiencies of these factors cause inheritable hemorrhagic diseases. Factor VII (FVII) deficiency is a rare bleeding disorder with variable clinical symptoms. Various mutations have been identified throughout the F7 gene and can affect all the protein domains. The results of previous experiments have partly revealed the correlation between genotype and phenotype in patients with FVII deficiency. Nevertheless, each particular variant may affect the coagulative function of FVII, mainly via altering its expression level, extra-cellular secretion, tissue factor binding affinity, or proteolytic activity. The pathogenicity of the variants and molecular mechanisms responsible for clinical symptoms in patients with FVII deficiency should be characterized via in silico and in vitro, as well as in vivo functional studies. This review has highlighted the most important functional studies reported on F7 gene variants, including relevant reports regarding Iranian FVII deficiency patients. 
کلیدواژه‌های انگلیسی مقاله Factor VII deficiency, in vitro techniques, mutation
نویسندگان مقاله | Shirin Shahbazi
Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran


| Reza Mahdian
Molecular Medicine Department, Pasteur Institute of Iran, Tehran, Iran
نشانی اینترنتی http://ibj.pasteur.ac.ir/browse.php?a_code=A-10-1-774&slc_lang=en&sid=1
فایل مقاله اشکال در دسترسی به فایل - ./files/site1/rds_journals/125/article-125-1398128.pdf
کد مقاله (doi)
زبان مقاله منتشر شده en
موضوعات مقاله منتشر شده Molecular Genetics & Genomics
نوع مقاله منتشر شده مقاله مروری
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