نتایج جستجو برای: somatic mutation

تعداد نتایج: 325275  

Journal: :Mutagenesis 2016
Tomoyo Uchiyama Ryota Koike Yoko Yuma Keinosuke Okamoto Sakae Arimoto-Kobayashi Toshinori Suzuki Tomoe Negishi

We previously reported that a urate-null strain of Drosophila is hypersensitive to cigarette smoke (CS), and we suggested that CS induces oxidative stress in Drosophila because uric acid is a potent antioxidant. Although the carcinogenic risk of CS exposure is widely recognized; documentation of in vivo genotoxic activity of environmental CS, especially gaseous-phase CS, remains inconclusive. T...

2010
Giuseppina Rose Giuseppe Romeo Serena Dato Paolina Crocco Amalia C. Bruni Antti Hervonen Kari Majamaa Federica Sevini Claudio Franceschi Giuseppe Passarino

Tissue specific somatic mutations occurring in the mtDNA control region have been proposed to provide a survival advantage. Data on twins and on relatives of long-lived subjects suggested that the occurrence/accumulation of these mutations may be genetically influenced. To further investigate control region somatic heteroplasmy in the elderly, we analyzed the segment surrounding the nt 150 posi...

Journal: :Cancer research 1996
D J Marsh S D Andrew C Eng D L Learoyd A G Capes R Pojer A L Richardson C Houghton L M Mulligan B A Ponder B G Robinson

Inherited cancer syndromes predispose an individual to development of specific tumors. Somatic and germline mutations in the same tumor suppressor gene, as described in Knudson's two-mutation model, are well recognized. Inherited mutations in the RET proto-oncogene, which encodes a receptor tyrosine kinase, predispose individuals to the multiple endocrine neoplasia type 2 (MEN 2) cancer syndrom...

2014
LIANSHAN PIAO YANHUA HAN DAN LI

The aim of the present study was to investigate the correlation between the adiponectin gene single nucleotide polymorphism (SNP)45 T/G and long-term oxidative stress in type II diabetes mellitus (T2DM) patients with carotid atherosclerosis. Patients with T2DM were divided into non-carotid atherosclerosis and carotid atherosclerosis groups, which were then subsequently divided into TT and TG + ...

2014
Najie Song Xueting Zhong Qingge Li

Detection of somatic mutations for targeted therapy is increasingly used in clinical settings. However, due to the difficulties of detecting rare mutations in excess of wild-type DNA, current methods often lack high sensitivity, require multiple procedural steps, or fail to be quantitative. We developed real-time bidirectional pyrophosphorolysis-activated polymerization (real-time Bi-PAP) that ...

2016
Kazuya Shinmura Hisami Kato Yuichi Kawanishi Hisaki Igarashi Masanori Goto Hong Tao Yusuke Inoue Satoki Nakamura Kiyoshi Misawa Hiroyuki Mineta Haruhiko Sugimura

The effects of abnormalities in the DNA glycosylases NEIL1, NEIL2, and NEIL3 on human cancer have not been fully elucidated. In this paper, we found that the median somatic total mutation loads and the median somatic single nucleotide mutation loads exhibited significant inverse correlations with the median NEIL1 and NEIL2 expression levels and a significant positive correlation with the median...

2015
Jin-Ching Lin Chen-Chi Wang Rong-San Jiang Wen-Yi Wang Shih-An Liu

OBJECTIVES The aim of this study was to investigate somatic mutations in the D-loop of mitochondrial DNA (mtDNA) and their impact on survival in oral squamous cell carcinoma patients. MATERIALS AND METHODS Surgical specimen confirmed by pathological examination and corresponding non-cancerous tissues were collected from 120 oral squamous cell carcinoma patients. The sequence in the D-loop of ...

Journal: :Hypertension 2012
Paolo Mulatero Philipp Tauber Maria-Christina Zennaro Silvia Monticone Katharina Lang Felix Beuschlein Evelyn Fischer Davide Tizzani Anna Pallauf Andrea Viola Laurence Amar Tracy Ann Williams Tim M Strom Elisabeth Graf Sascha Bandulik David Penton Pierre-François Plouin Richard Warth Bruno Allolio Xavier Jeunemaitre Franco Veglio Martin Reincke

Primary aldosteronism is the most frequent cause of endocrine hypertension. Three forms of familial hyperaldosteronism (FH) have been described, named FH-I to -III. Recently, a mutation of KCNJ5 has been shown to be associated with FH-III, whereas the cause of FH-II is still unknown. In this study we searched for mutations in KCNJ5 in 46 patients from 21 families with FH, in which FH-I was excl...

2017
A Miller Y Asmann L Cattaneo E Braggio J Keats D Auclair S Lonial S J Russell A K Stewart

Tumor-specific mutations can result in immunogenic neoantigens, both of which have been correlated with responsiveness to immune checkpoint inhibitors in highly mutagenic cancers. However, early results of single-agent checkpoint inhibitors in multiple myeloma (MM) have been underwhelming. Therefore, we sought to understand the relationship between mutation and neoantigen landscape of MM patien...

2017
Taigo Kato Jae-Hyun Park Kazuma Kiyotani Yuji Ikeda Yasuo Miyoshi Yusuke Nakamura

Next-generation sequencing technology enables us to analyze the complexity of intra- and inter-tumoral heterogeneity, which may influence to prognosis of cancer patients. In this study, we collected surgically-resected tumor tissues from five breast cancer patients and characterized three different portions of individual tumors through somatic mutation analysis by whole exome sequencing, T cell...

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