نتایج جستجو برای: amplified refractory mutation system

تعداد نتایج: 2553865  

Journal: :The Journal of infectious diseases 2000
W Liu C Shum D F Martin B D Kuppermann A J Hall T P Margolis

The purpose of this study was to determine the prevalence of UL97 resistance mutations in cytomegalovirus (CMV) DNA amplified from the eyes of patients with AIDS and newly diagnosed CMV retinitis. Relevant segments of the CMV UL97 gene were amplified from vitreous humor, after which restriction digest screening was performed for resistance mutations at codons 460, 520, 591, 592, 594, 595, and 6...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2009
Jan J Molenaar Marli E Ebus Dirk Geerts Jan Koster Fieke Lamers Linda J Valentijn Ellen M Westerhout Rogier Versteeg Huib N Caron

Two genes have a synthetically lethal relationship when the silencing or inhibiting of 1 gene is only lethal in the context of a mutation or activation of the second gene. This situation offers an attractive therapeutic strategy, as inhibition of such a gene will only trigger cell death in tumor cells with an activated second oncogene but spare normal cells without activation of the second onco...

2012
Ahmad Poursadegh Zonouzi Nader Chaparzadeh Mehrdad Asghari Estiar Mahzad Mehrzad Sadaghiani Laya Farzadi Alieh Ghasemzadeh Masoud Sakhinia Ebrahim Sakhinia

Introduction. Recurrent spontaneous abortion (RSA) is a significant obstetrical complication that may occur during pregnancy. Various studies in recent years have indicated that two common mutations (C677T and A1298C) of the methylenetetrahydrofolate reductase (MTHFR) gene are risk factor for RSA. This study was carried out to determine the influence of (C677T and A1298C) of the methylenetetrah...

A. Javanmard, A. Niazi B. Arefnejad, M.J. Zamiri Y. Mehdizadeh

BMP15 and GDF9 are two oogenesis specific genes play a pivotal role in female fertility in mammals and potential for improvement of prolificacy in marker-assisted selection. The aim of present research was to investigate the variation and association between BMP15 and GDF9 polymorphism and litter size in Markhoz goats. The sequence variability of the different amplified fragments utilized for g...

Journal: :Molecular pathology : MP 2003
R Majumdar M Al Jumah M Fraser

BACKGROUND In patients with Wilson's disease (WD), an autosomal recessive disorder, toxic accumulation of copper results in fatal liver disease and irreversible neuronal degeneration. ATP7B, the gene mutated in WD, contains 21 exons and encodes a copper transporting ATPase. A novel disease causing mutation (4193delC) in exon 21 of the ATP7B gene has previously been detected by heteroduplex anal...

Journal: :Egyptian Journal of Medical Human Genetics 2022

Abstract Background Gestational diabetes mellitus is the most common metabolic dysfunction that arises during pregnancy. GDM can lead to serious health complications for both mother pregnancy and after delivery of baby. Additionally, mother–offspring suffers from abnormalities in metabolism. The study aimed investigate glutathione S?transferase P1 ghrelin genetic variants pregnant women diagnos...

Journal: :Journal of The National Comprehensive Cancer Network 2023

Molecular biomarker testing for all patients with metastatic colorectal cancer (CRC) has become increasingly important because identifying targetable alterations can lead to meaningful clinical benefits. At a minimum, should include RAS , BRAF mutational status, microsatellite instability HER2 expression, NTRK and RET mutations. For -amplified cancer, the NCCN Guidelines offer multiple treatmen...

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