Pezhman Fard-Esfahani
Department of Biochemistry, Pasteur Institute of Iran, Tehran, Iran
[ 1 ] - Familial Hypercholesterolemia in Iran: A Novel Frameshift Mutation in Low Density Lipoprotein Receptor (LDLR) Gene
Background and Objective: Familial hypercholesterolemia (FH) is an autosomal trait, which is caused by mutations in Low Density Lipoprotein Receptor (LDLR) gene. FH penetrance is about 100% and worldwide prevalence for heterozygous subjects is almost 1 in 500 and for homozygous 1 in 1,000,000. The patients are at risk of premature coronary heart disease (CHD) due to defective LDLR a...
[ 2 ] - Using a Temperature Gradient against the Time in Polyacrylamide Gel Electrophoresis May Eliminate the Need for Stacking Gels
Background and Objectives: Making stacking gels for polyacrylamide gels in the laboratory by conventional methods is laborious and time consuming. Considering the role of temperature in polyacrylamide gels with respect to electrical resistance and viscosity, we assumed that decreasing the temperature would cause an increase in electrical resistance and viscosity. Ultimately, a downward tempera...
[ 3 ] - بررسی تغییر G>A در محل پیرایش اینترون 6 ژنXRCC4 در بیماران مبتلا به سرطان تیرویید تمایز یافته ((DTC
زمینه سرطان تیرویید تمایز یافته (DTC) شایع‌ترین بدخیمی غدد درون‌ریز بوده که شامل سرطان تیرویید فولیکولاری و پاپیلاری می‌باشد. یکی از عوامل مؤثر در ایجاد ان اثر اشعه و به‌دنبال آن شکست DNA است. از جمله مسیرهای مهم ترمیم DNA شکسته شده، مسیر NHEJ (Nonhomologus End Joining) می‌باشد که با اتصال دو انتهای غیر همولوگ، DNA شکسته شده را به هم متصل می‌کند. یکی از ژن‌های مهم این مسیر، ژن XRCC4 می‌باشد و پ...
[ 4 ] - The role of Ile3434Thr XRCC7 gene polymorphism in Differentiated Thyroid Cancer risk in an Iranian population
Background: The aim of this study was to understand any association between differentiated thyroid carcinoma (DTC) and Ile3434Thr XRCC7 gene polymorphism (GenBank accession number: rs7830743). DTC is the most prevalent thyroid neoplasm, which includes papillary and follicular cell carcinoma. XRCC7 gene encodes a protein that functions in non-homologous end joining DNA repair pathway. Non-synony...
[ 5 ] - Association of Arg194Trp, Arg280His and Arg399Gln Polymorphisms in X-Ray Repair Cross-Complementing Group 1 Gene and Risk of Differentiated Thyroid Carcinoma in Iran
Background: X-ray repair cross-complementing group 1 (XRCC1) gene is a DNA repair gene and its non-synonymous single nucleotide polymorphisms (SNP) may influence DNA repair capacity which has been considered as a modifying risk factor for cancer development. Methods: A case-control study was conducted to investigate impact of three frequently studied polymorphisms (Arg194Trp, Arg280His and Arg3...
[ 6 ] - Development of a High-Resolution Melting Method for Screening R188H Polymorphism in XRCC2 Gene
Background: The High Resolution Melting (HRM) method is a new scanning method for detecting unknown changes in DNA and its advantages have persuaded researchers to recruit it as a screening method. Objectives: Here, we developed a HRM method to screen R188H SNP (rs3218536) of XRCC2 and compared the results with a well known PCR-RFLP technique. Materials and Methods: Genomic ...
Co-Authors
Shima Fayaz 17