Results 31 to 40 of about 811,508 (257)

Intensive surveillance endoscopy for multiple gastrointestinal tumors in a patient with constitutional mismatch repair deficiency: case report

BMC Gastroenterology, 2021
Background Constitutional mismatch repair deficiency (CMMRD) is an extremely rare autosomal recessive hereditary disease characterized by the absence of mismatch repair gene activity from birth, which results in brain tumors, colonic polyposis ...
Takayuki Ando, Takahiko Nakajima, Rei Fukuda, Keiko Nomura, Yo Niida, Miho Sakumura, Iori Motoo, Hiroshi Mihara, Sohachi Nanjo, Shinya Kajiura, Haruka Fujinami, Shojo Hojo, Tsutomu Fujii, Ichiro Yasuda   +13 more
doaj   +1 more source

Mismatch Repair Deficiency and Microsatellite Instability

Encyclopedia, 2022
Mismatch repair deficiency (MMRd) is caused by the biallelic inactivation of an MMR gene, which can be attributed either to an inherited or an acquired pathway.
Sandra Schöniger, Josef Rüschoff
doaj   +1 more source

Central Nervous System Tumors Among Infants in Canada: A Report From CYP‐C

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Central nervous system (CNS) tumors in infants are rare, pose unique clinical challenges, and lack large‐scale evidence‐based data to guide management. This study seeks to describe CNS tumors in Canadian infants and to compare their outcomes with those of older children.
Samuel Sassine, Hallie Coltin, Sylvia Cheng, Lucie Lafay‐Cousin, Vanan Issai Magimairajan, Craig Erker, Stéphanie Vairy, Lynette Bowes, Adam Fleming, Donna Johnston, Sarah McKillop, Roona Sinha, Julie Bennett, Christina Coleman, Laura Wheaton, Shayna Zelcer, Samuele Renzi, Thai Hoa Tran   +17 more
wiley   +1 more source

Curcumin Chemosensitizes 5-Fluorouracil Resistant MMR-Deficient Human Colon Cancer Cells in High Density Cultures [PDF]

, 2014
Objective Treatment of colorectal cancer (CRC) remains a clinical challenge, as more than 15% of patients are resistant to 5-Fluorouracil (5-FU)-based chemotherapeutic regimens, and tumor recurrence rates can be as high as 50–60%.
Patricia Kraehe, Kraehe Patricia, Shayan, Parviz, Lueders, Cora, Shayan Parviz, Lueders Cora, Shakibaei Mehdi, Mehdi Shakibaei, Parviz Shayan, Goel Ajay, Buhrmann Constanze, Ajay Goel, Cora Lueders, Shakibaei, Mehdi, Constanze Buhrmann, Buhrmann, Constanze, Goel, Ajay, Kraehe, Patricia   +17 more
core   +1 more source

‘Guide and Prejudice’— How Argonautes recognize targets across domains of life

FEBS Letters, EarlyView.
Argonaute proteins use short nucleic‐acid guides to locate and regulate specific targets across all domains of life. Despite striking diversity—from human gene silencing to bacterial immune defence—all Argonautes share a conserved three‐stage recognition logic: guide‐directed sampling, progressive target pairing with a conformational checkpoint and ...
Jack P. K. Bravo
wiley   +1 more source

Eukaryotic DNA Mismatch Repair In Vitro

, 2012
Mismatch repair corrects biosynthetic errors generated during DNA replication. Mismatch repair deficiency causes a mutator phenotype and directly underlies hereditary nonpolyposis colorectal cancer and some sporadic cancers.
Yuan, Fenghua, Liu, Fengsong, Gu, Liya, Song, Limin, Fengsong Liu, Liya Gu, Fenghua Yuan, Yanbin Zhang, Limin Song, Zhang, Yanbin   +9 more
core   +1 more source

Deficient mismatch repair and RAS mutation in colorectal carcinoma patients: a retrospective study in Eastern China [PDF]

PeerJ, 2018
Objectives To investigate the frequency and prognostic role of deficient mismatch repair (dMMR) and RAS mutation in Chinese patients with colorectal carcinoma.
Xiangyan Zhang, Wenwen Ran, Jie Wu, Hong Li, Huamin Liu, Lili Wang, Yujing Xiao, Xiaonan Wang, Yujun Li, Xiaoming Xing   +9 more
doaj   +2 more sources

Membrane composition and thermodynamic identity as boundaries of life for synthetic cell research

FEBS Letters, EarlyView.
What makes a cell a cell? The boundary of a living cell is not just a wall. Read as a Markov blanket, the membrane separates internal from external states, generating identity and non‐equilibrium order. Can this identity be rebuilt from scratch in a synthetic cell?
Caterina Presutti, Bert Poolman
wiley   +1 more source

A non-canonical mismatch repair pathway in prokaryotes

Nature Communications, 2017
Despite the importance of mismatch repair for genome stability, many Archaea and almost all Actinobacteria lack MutS and MutL proteins. Here the authors, usingMycobacterium smegmatisas a model, report that NucS/EndoMS endonuclease acts in a distinct ...
A. Castañeda-García, A. I. Prieto, J. Rodríguez-Beltrán, N. Alonso, D. Cantillon, C. Costas, L. Pérez-Lago, E. D. Zegeye, M. Herranz, P. Plociński, T. Tonjum, D. García de Viedma, M. Paget, S. J. Waddell, A. M. Rojas, A. J. Doherty, J. Blázquez   +16 more
doaj   +1 more source

Finding novel vulnerabilities of hypomorphic BRCA1 alleles

Molecular Oncology, EarlyView.
Synthetic lethality screens performed to identify novel vulnerabilities often model complete gene loss, thereby overlooking patient‐derived hypomorphic mutations. In this study, we have performed genome‐wide CRISPR screens on BRCA1 hypomorphic mutations, showing BRCA1I26A behaves like wild‐type, while BRCA1R1699Q mimics deficiency. Furthermore, we have
Anne Schreuder, Klaas de Lint, Hồ Mỹ Phúc Võ, Mariana M. Góis, Rosalie A. Kampen, Marta San Martin Alonso, Ilse Nootenboom, Veronica Garzero, Tiemen J. Wendel, Rob M. F. Wolthuis, Sylvie M. Noordermeer   +10 more
wiley   +1 more source