نتایج جستجو برای: mismatch repair genes

تعداد نتایج: 571705  

Journal: :Molecular and cellular biology 2002
Nianxiang Zhang Xiaoyan Lu Xiaoshan Zhang Carolyn A Peterson Randy J Legerski

The removal of interstrand cross-links (ICLs) from DNA in higher eucaryotes is not well understood. Here, we show that processing of psoralen ICLs in mammalian cell extracts is dependent upon the mismatch repair complex hMutSbeta but is not dependent upon the hMutSalpha complex or hMlh1. The processing of psoralen ICLs is also dependent upon the nucleotide excision repair proteins Ercc1 and Xpf...

Journal: :Human molecular genetics 1996
G Moslein D J Tester N M Lindor R Honchel J M Cunningham A J French K C Halling M Schwab P Goretzki S N Thibodeau

To date, at least four genes involved in DNA mismatch repair, hMSH2, hMLH1, hPMS1 and hPMS2, have been demonstrated to be altered in the germline of patients with hereditary nonpolyposis colorectal cancer (HNPCC). Additionally, defective mismatch repair is thought to account for the observation of microsatellite instability (MIN) in tumors from these patients. The genetic defect responsible for...

Journal: :Experimental oncology 2015
T Poplawski A Sobczuk J Sarnik E Pawlowska J Blasiak

UNLABELLED Endometrial cancer (EC) is the second most common malignancy associated with hereditary non-polyposis colorectal cancer (HNPCC) family. The development of HNPCC is associated with defects in DNA mismatch repair (MMR) pathway resulting in microsatellite instability (MSI). MSI is present in a greater number of EC than can be accounted for by inherited MMR mutations, therefore alternati...

Journal: :Clinical cancer research : an official journal of the American Association for Cancer Research 2006
Jae-Gahb Park Duck-Woo Kim Chang Won Hong Byung-Ho Nam Young-Kyoung Shin Sung-Hye Hong Il-Jin Kim Seok-Byung Lim Melyssa Aronson Marie Luise Bisgaard Gregor J Brown John Burn Elizabeth Chow Peggy Conrad Fiona Douglas Malcolm Dunlop James Ford Marc S Greenblatt Jarvinen Heikki Karl Heinimann Elly L Lynch Finlay Macrae Wendy C McKinnon Gabriela Möeslein Benedito Mauro Rossi Paul Rozen Lyn Schofield Carlos Vaccaro Hans Vasen Mary Velthuizen Alessandra Viel Juul Wijnen

PURPOSE The aim of study was to determine the clinical characteristics and mutational profiles of the mismatch repair genes in hereditary nonpolyposis colorectal cancer (HNPCC) patients with small bowel cancer (SBC). EXPERIMENTAL DESIGN A questionnaire was mailed to 55 members of the International Society for Gastrointestinal Hereditary Tumours, requesting information regarding patients with ...

2013
Yuheng Lu T. David Soong Olivier Elemento

Microsatellite instability (MSI) is characterized by the expansion or contraction of DNA repeat tracts as a consequence of DNA mismatch repair deficiency (MMRD). Accurate detection of MSI in cancer cells is important since MSI is associated with several cancer subtypes and can help inform therapeutic decisions. Although experimental assays have been developed to detect MSI, they typically depen...

Journal: :The Journal of biological chemistry 1994
A Umar J C Boyer D C Thomas D C Nguyen J I Risinger J Boyd Y Ionov M Perucho T A Kunkel

A replication error (RER+) phenotype, characterized by somatic instability in simple repeated sequences, is associated with several types of cancer. To determine if a defect in DNA replication fidelity or repair of replication errors might explain this instability, we compared both processes in cell-free extracts from RER+ endometrial and colorectal cancer cell lines to RER- cell lines. SV40 or...

Journal: :iranian journal of pathology 2009
hamid galehdari azam ahmadi shadmehr mahmoud kalantar alimohammad foroughmand rasekh -

background and objectives: hereditary nonpolyposis colorectal cancer (hnpcc) is an autosomal dominant cancer predisposition syndrome caused by germ-line mutations in dna mismatch repair genes. tumors arising as a result of these mutations display instability in a sequence area known as microsatellites. studies have shown that some bethesda markers (bat25, bat26) are more efficient than others i...

Journal: :Molecular and cellular biology 1997
M T Negritto X Wu T Kuo S Chu A M Bailis

We have developed a system for analyzing recombination between a DNA fragment released in the nucleus from a single-copy plasmid and a genomic target in order to determine the influence of DNA sequence mismatches on the frequency of gene replacement in Saccharomyces cerevisiae. Mismatching was shown to be a potent barrier to efficient gene replacement, but its effect was considerably ameliorate...

Journal: :Consciousness and cognition 2003
Dirk T Leube Günther Knoblich Michael Erb Tilo T J Kircher

The self seems to be a unitary entity remaining stable across time. Nevertheless, current theorizing conceptualizes the self as a number of interacting sub-systems involving perception, intention and action (self-model). One important function of such a self-model is to distinguish between events occurring as a result of one's own actions and events occurring as the result of somebody else's ac...

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