نتایج جستجو برای: mutation analysis
تعداد نتایج: 3045422 فیلتر نتایج به سال:
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 ...
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...
Two Iranian cases with very rare progeroid syndrome are reported. The first is a 24-year-old girl who has been healthy till her 13th birthday. From that time she has been suffering from a progressive generalized and multi-systemic illness. The cardinal clinical findings were growth retardation, subcutaneous fat loss, skin dryness and wrinkling, scattered focal sclerodermoid-like changes, promin...
Abstract Introduction: Genetic variation of FGFR3 gene is one of the factors affecting the bladder tumor. FGFR3 is a tyrosine kinase receptor, involved in controlling the cellular and angiogenesis cycle. This protein affects a variety of diseases and cancers and cartilage growth abnormalities. Regarding the high activity of fgfr3 mutations in more than 50% of primary tumors of bladder urethral...
Introduction & Objective : Hearing loss is the most prevalent form of sensory impairment in humans, affecting approximately one in 1000 infants. In more than half of the cases, the deafness is inherited, and about 80% of hereditary deafness transmitted by autosomal recessive pattern. In hereditary congenital deafness, numerous mutations in GJB2 make the largest fractional contribution in many w...
glucose-6-phosphate dehydrogenase (g6pd) enzyme catalyses the first step in pentose phosphate pathway (conversion of glucose-6-phosphat to 6-phospho gluconat) which provides cells with pentoses and reduction power in the form of nadph. in the present study we have analyzed the g6pd gene mutations in 76 patients with a history of favism in khorasan province in iran. dna samples were analyzed for...
Introduction & Objective: Gastric cancer is one of the most common cancers in Iran, and in some regions, the prevalence of this cancer is the highest among all diagnosed cancers, also it has the highest mortality rate. Concerning to different tumoral mutations that have role in prognosis and type of treatments in different cancers, this study was done to determine the association between p53 ...
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