نتایج جستجو برای: 32 mutation

تعداد نتایج: 434226  

2014
Seung Tae Kim Kyong Hwa Park Sang Won Shin Yeul Hong Kim

PURPOSE Mutations affecting the KRAS gene are an established negative predictor for anti-epidermal growth factor receptor (anti-EGFR) therapies in metastatic colorectal cancer (CRC). However, the role of KRAS mutation as a biomarker for anti-vascular endothelial growth factor (VEGF) remains controversial. MATERIALS AND METHODS We analyzed retrospective data from 32 CRC patients who were avail...

Journal: :Journal of bacteriology 1987
T Tobe N Kusukawa T Yura

Temperature-resistant pseudorevertants were isolated from rpoH (htpR) mutants of Escherichia coli K-12 that cannot grow at a high temperature owing to a deficiency in sigma 32 required for the induction of heat shock proteins. Among them was a class of revertants carrying a suppressor mutation, designated suhA, that suppressed all the nonsense and missense rpoH mutations tested. suhA is located...

Journal: :international journal of reproductive biomedicine 0
fatemeh mirzaei zohreh farzad-mahajeri

background: intrauterine growth retardation (iugr) contributes significantly to fetal morbidity and mortality, but its etiology is unknown in most cases. objective: the aim of this study was to examine the association between inherited thrombophilia and iugr. materials and methods: a case-control study was performed in a tertiary referral center (afzalipour hospital) over 2-years period (2010-2...

2008
Agnieszka Kempińska-Podhorodecka Oktawian Knap Miłosz Parczewski Agnieszka Bińczak-Kuleta Mirosław Parafiniuk

The focus on small isolated populations provides important insights into the factors affecting the distribution of inheritable traits. Here, we present a report on the distribution of the CCR5 ∆32 mutation in the so far unstudied innate Sudanese population of Shagia people. The genetic material (buccal swabs) was collected from 125 individuals living in three African villages, Abu Haraz, Shibab...

Journal: :American journal of human genetics 2000
Gomez Lira M M G Benetazzo M G Marzari C Bombieri F Belpinati C Castellani G C Cavallini G Mastella P F Pignatti

To the Editor: Cystic fibrosis (CF) (MIM 219700) is a genetic disease with multisystem involvement and in which defective chloride transport across membranes causes dehydrated secretion. The protein encoded by the CF gene (CFTR) is a transmembrane conductance regulator. The ability to detect CFTR mutations has led to the recognition of its association with a variety of conditions, including bro...

Journal: :The Journal of antimicrobial chemotherapy 2004
Sylvie Baucheron Elisabeth Chaslus-Dancla Axel Cloeckaert

OBJECTIVES To study the role of TolC and of parC mutation in high-level fluoroquinolone resistance in clonal clinical strains of Salmonella enterica serotype Typhimurium phage type DT204 (S. Typhimurium DT204). METHODS Deletion of the tolC gene (DeltatolC) was first performed in a susceptible S. Typhimurium DT104 strain lacking target gene mutations involved in fluoroquinolone resistance. P22...

2015
Seyhan Yilmaz Seyhan YILMAZ

Purpose: We aimed in this study to examine the presence and frequency of genetic polymorphisms in individuals less than 55 years of age with significant peripheral arterial disease in the femoropopliteal arterial system and to report on their association with the disease. Material and methods: This cross-sectional study undertaken between 2013 and 2014 included a total of 32 peripheral arterial...

2014
Fangqi Liu Li Yang Xiaoyan Zhou Weiqi Sheng Sanjun Cai Lei Liu Peng Nan Ye Xu

The aim of this study was to investigate the clinical value of different criteria and to understand the relationship between genotype and phenotype in Chinese hereditary nonpolyposis colorectal cancer (HNPCC). A total of 116 unrelated probands of suspected HNPCC families from the Fudan Colorectal Registry were studied. A total of 32, 28, and 56 families fulfilled the Amsterdam criteria, the Fud...

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