نتایج جستجو برای: موتاسیون c677t

تعداد نتایج: 2294  

Journal: :journal of dental research, dental clinics, dental prospects 0
asghar ebadifar shahid beheshti university of medical sciences nazila ameli postgraduate student of orthodontics, dental school, shahid beheshti university of medical sciences, tehran, iran hamid reza khorramkhorshid professor, genetic research centre, university of social welfare and rehabilitation sciences, tehran, iran mehdi salehi zeinabadi postgraduate student of pediatric dentistry, shahed dental school, tehran, iran 5reproductive biotechnology research center, avicenna research institute, acecr, tehran, iran kourosh kamali reproductive biotechnology research center, avicenna research institute, acecr, tehran, iran tayyebeh khoshbakht msc, genetic research centre, university of social welfare and rehabilitation sciences, tehran, iran

background and aims. the aim of the present study is to determine the incidence of mthfr c677 t and a1298c mutations in iranian patients with cleft lip and/or cleft palate. materials and methods. we screened 61 iranian patients with cleft lip and/or cleft palate for mutations in the two alleles of mthfr gene associated with cleft lip and/or palate: a1298c and c677t, using polymerase chain react...

ژورنال: پژوهنده 2013
دکتر محمدتقی اکبری, , شهره زارع کاریزی, , فاطمه اسکندری, ,

سابقه و هدف: پاتوژنز سقط مکرر جنین شامل عوامل متعدد ژنتیکی و محیطی می‌باشد. تغییر فاکتورهای انعقادی خون در طول بارداری، نقش مهمی در وقوع سقط مکرر جنین ایفا می‌کند. اخیراً، ترومبوفیلیاهای ارثی به عنوان عاملی برای سقط مکرر جنین شناخته شده‌اند. در مطالعه‌ی حاضر، ارتباط چند شکلی‌های C677T و A1298C ژن MTHFR با سقط مکرر جنین، مورد بررسی قرار گرفته است. مواد و روش‌ها: در این تحقیق، 105 خانم با 2 یا تعد...

Journal: :gene, cell and tissue 0
mehdi shahvali koohshori department of genetics, faculty of science, shahid chamran university of ahvaz, ahvaz, ir iran seyed reza kazemi nezhad department of genetics, faculty of science, shahid chamran university of ahvaz, ahvaz, ir iran; department of genetics, faculty of science, shahid chamran university of ahvaz, ahvaz, ir iran. tel/fax: +98-6133338965 elham rajaei department of internal medicine, school of medicine, ahvaz jundishapur university of medical sciences, ahvaz, ir iran mohammad reza akhoond department of statistics, mathematical science and computer faculty, shahid chamran university of ahvaz, ahvaz, ir iran

conclusions our findings suggest that there is an association between the mthfr c677t polymorphism and susceptibility for the development of ra. results our results showed significant differences between the groups with respect to mthfr c677t genotype (p = 0.015) and allele frequencies (0.004). statistical analysis showed that there is no relation between gender, age, and ra risk. however, we fo...

2016
Hamoud Al-Shahrani Najwa Al-Dabbagh Nourah Al-Dohayan Misbahul Arfin Mohammad Al-Asmari Sadaf Rizvi Abdulrahman Al-Asmari

BACKGROUND Methylenetetrahydrofolate reductase (MTHFR), a critical enzyme in folate metabolism is involved in DNA synthesis, DNA repair and DNA methylation. The functional polymorphism of MTHFR gene, C677T has been shown to impact various diseases and implicated as a risk factor for the development of various neurodegenerative disorders including glaucoma. METHODS We investigated MTHFR C677T ...

Journal: :Journal of the Neurological Sciences 2021

Ethnicity variation is one of the main factors that may affect drug response in clinical practice. As MTHFR gene affects different transcriptome and proteome which drugs. Purpose current study was to observe possible variations plasma levels carbamazepine monotherapy seizures' control Pakhtun population Khyber Pakhtunkhwa (KP) context (C677T A1298C) polymorphisms.

Journal: :iranian red crescent medical journal 0
elham yousefian department of midwifery, islamic azad university falavarjan branch, isfahan, ir iran; department of midwifery, islamic azad university falavarjan branch, isfahan, ir iran. tel: +98-3123120136 mohammad taghi kardi department of biology, university of isfahan, isfahan, ir iran azra allahveisi department of anatomy, faculty of medicine, kurdistan university of medical sciences, sannandaj, ir iran

background recurrent pregnancy loss (rpl) is a serious problem for pregnancy. there is evidence that vascular complications play a principal role in rpl. methylenetetrahydrofolate reductase (mthfr) is a key enzyme in folate metabolism. polymorphisms (c677t, a1298c) of mthfr gene are associated with decreased mthfr activity. objectives the aim of this study was to determine the association betwe...

Journal: :Konuralp Tip Dergisi 2021

Objective: Down Syndrome (DS) is defined as chromosome 21 trisomy and associated with cardiovascular system diseases. We aimed to study inherited thrombophilia genes (MTHFR A1298C, MTHFR C677T, Factor II G20210A, V Leiden G1691A, Cambridge G1091C, XIII, APOB, ITGB3, FVHR2, FGB, PAI-1 ACE) in patients DS. Materials Methods: A total of 53 DS (32 male female) were included the study. Demographical...

ژورنال: طب جنوب 2016
احمدی, اعظم, ارجمندزادگان, محمد, افضلی, امیرپویان, توشه, مجتبی, حسینی, سیدحسین, کهبازی, منیژه,

زمینه:طی سال‌های اخیر، بروز و گسترش مقاومت داروئی در مایکوباکتریوم توبرکلوزیس، باکتری مولد سل، این بیماری را در اولویت‌های سازمان بهداشت جهانی هم‌ردیف بیماری‌هایی مانند ایدز و هپاتیت قرار داده است. بررسی دقیق ژنوتیپ سویه‌های کلینیکی مقاوم و حساس برای غلبه بر مقاومت دارویی ایجاد شده ضرورت دارد. از میان سیستم‌های متعدد ترمیم تنها تعداد محدودی ژن کد کننده آنزیم‌های ترمیم DNAدر مایکوباکتریوم توبرکل...

Journal: :The Medical journal of Malaysia 2008
A R Hayati A I Zainal G C Tan L C Ong T B Khoo

Major congenital malformations occur in about 3% of newborn. Several studies have suggested that homozygosity for the C677T methylenetetrahydrofolate reductase (MTHFR) variant is a potential risk factor for neural tube defects (NTDs). It has been hypothesized that the maternal folic acid supplementation prevents NTDs by partially correcting reduced MTHFR activity associated with the variant for...

Journal: :Journal of neurology, neurosurgery, and psychiatry 2006
M Kloss T Wiest S Hyrenbach I Werner M-L Arnold C Lichy C Grond-Ginsbach

The methylene tetrahydrofolate reductase (MTHFR) C677T polymorphism was studied in 174 German patients with cervical artery dissection (CAD). The results were compared with published data on 927 healthy German controls. In the series of patients, the frequency of T alleles and of TT carriers was slightly higher (13.8%) than among the healthy controls (10.6%). In patients with multiple dissectio...

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