Results 51 to 60 of about 811,508 (257)

Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD)

BMC Medical Genetics, 2017
Background Constitutional mismatch repair deficiency syndrome results from bi-allelic inheritance of mutations affecting the key DNA mismatch repair genes: MLH1, MSH2, MSH6 or PMS2.
N. C. Ramchander, N. A. J. Ryan, E. J. Crosbie, D. G. Evans   +3 more
doaj   +1 more source

Genetic dissection of human ABCE1 in yeast reveals separable requirements for ribosome recycling and suppression of aberrant reinitiation

FEBS Open Bio, EarlyView.
Human ABCE1 cannot functionally replace its yeast ortholog. Yeast–human chimera analysis identified NBD1 as a major interspecies barrier. Genetic screening yielded hABCE1 revertants that rescue yeast viability but fail to suppress aberrant translation reinitiation in the 3′ UTR.
Eriko Nakata, Yuxin Li, Kei Endo, Koichi Ito   +3 more
wiley   +1 more source

Endonuclease V-Mediated Deoxyinosine Excision Repair in Vitro

, 2011
Deoxyinosine (dI) in DNA can arise from hydrolytic or nitrosative deamination of deoxyadenosine It is excised in a -repair pathway that is initiated by endonuclease V.
楊雅倩;林淑萍;高照村;蔡克嵩;方偉宏, YANG, YA-CHIEN;STEVEN, D. GOODMAN;LIN, SHWU-BIN;KAO, JAU-TSUEN;TSAI, KEH-SUNG;FANG, WOEI-HORNG   +1 more
core   +1 more source

Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2

Nature Communications, 2017
Lynch syndrome is characterized by predisposition to colorectal cancer and mutations in genes involved in mismatch repair. Here, the authors use whole genome sequencing and immunohistochemistry of mismatch repair proteins to show a high prevalence of ...
Sigurdis Haraldsdottir, Thorunn Rafnar, Wendy L. Frankel, Sylvia Einarsdottir, Asgeir Sigurdsson, Heather Hampel, Petur Snaebjornsson, Gisli Masson, Daniel Weng, Reynir Arngrimsson, Birte Kehr, Ahmet Yilmaz, Stefan Haraldsson, Patrick Sulem, Tryggvi Stefansson, Peter G. Shields, Fridbjorn Sigurdsson, Tanios Bekaii-Saab, Pall H. Moller, Margret Steinarsdottir, Kristin Alexiusdottir, Megan Hitchins, Colin C. Pritchard, Albert de la Chapelle, Jon G. Jonasson, Richard M. Goldberg, Kari Stefansson   +26 more
doaj   +1 more source

High incidence of microsatellite instability and loss of heterozygosity in three loci in breast cancer patients receiving chemotherapy: a prospective study

BMC Cancer, 2012
Background The aim of the study was to evaluate potential chemotherapy-induced microsatellite instability, loss of heterozygosity, loss of expression in mismatch repair proteins and associations with clinical findings in breast cancer patients ...
Kamat Nasir, Khidhir Mohammed A, Jaloudi Mohammed, Hussain Sabir, Alashari Mouied M, Al Qawasmeh Khaled H, Rannug Ulf   +6 more
doaj   +1 more source

Error-free and error-prone DNA repair gene expression data through reprogramming and passage in human iPS cells

Data in Brief, 2020
We recently found that DNA repair-related gene expression could be altered by reprogramming as well as the increased expression of genes that accurately convey genomic information, such as homologous recombination (HR) and mismatch repair (MMR), and the ...
Yasuhide Yoshimura, Daisuke Okuzaki
doaj   +1 more source

IGF2 knockout reduces but does not abolish osteosarcoma growth in vitro and in vivo

FEBS Open Bio, EarlyView.
To test whether endogenous IGF2 promotes osteosarcoma growth, IGF2 was knocked out in Saos2 cells via CRISPR‐Cas9. KO cells showed reduced proliferation in vitro, and knockout xenografts in mice reached only ~25% of wild‐type tumor volume. Insulin‐like growth factor 2 (IGF2) is implicated in osteosarcoma, but direct functional evidence of its role is ...
Shun Yao, Marco Archetti
wiley   +1 more source

Strand asymmetry influences mismatch resolution during a single-strand annealing

Genome Biology, 2022
Background Biases of DNA repair can shape the nucleotide landscape of genomes at evolutionary timescales. The molecular mechanisms of those biases are still poorly understood because it is difficult to isolate the contributions of DNA repair from those ...
Victoria O. Pokusaeva, Aránzazu Rosado Diez, Lorena Espinar, Albert Torelló Pérez, Guillaume J. Filion   +4 more
doaj   +1 more source

Chronobiology of Cancer: How Aging Fuels Oncogenesis at the Molecular Level

Aging and Cancer, EarlyView.
This graphical abstract illustrates the key biological pathways linking aging with cancer development and progression. In the upper left, cumulative exposure to ultraviolet radiation, toxins, and reactive oxygen species (ROS) causes DNA damage and genomic instability, whereas age‐related decline in repair mechanisms, such as ATM/ATR, BER, and NER ...
Anu Singh, Aroonima Misra, Sufian Zaheer
wiley   +1 more source

Prevalence and clinicopathological correlates of MSI/dMMR in colorectal cancer: a prospective multicenter registry study from Russia

Frontiers in Oncology
BackgroundMicrosatellite instability/mismatch repair deficiency are well-established predictive biomarkers for immune checkpoint inhibitor therapy and are used to identify candidates for Lynch syndrome screening in colorectal cancer.
Dmitrii Semenov, Sergey Achkasov, Natalya Bodunova, Ashot Avdalyan, Alexey Barinov, Anzhelika Chegodar, Ilya Chernikovskiy, Nikita Chizhikov, Mikhail Danilov, Irina Demidova, Vladislav Dmitriev, Dmitry Erygin, Mikhail Fedyanin, Mikhail Fedyanin, Mikhail Fedyanin, Vsevolod Galkin, Daria Ivanilova, Dmitriy Kanner, Nikolay Karnaukhov, Oleg Karpov, Igor Khatkov, Dina Kolesnikova, Ekaterina Kotova, Olga Maynovskaia, Oleg Penzin, Dmitry Pikunov, Andrey Pulin, Nikita Savelov, Anna Semenova, Vitaly Shatalov, Vitaly Shubin, Ilya Sklyar, Oleg Yudin, Evgeniy Zakurdaev, Ilya Pokataev, Alexey Tsukanov   +35 more
doaj   +1 more source