Results 41 to 50 of about 1,537,452 (154)

Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis

Biomolecules, 2022
Colorectal cancer (CRC) in adolescents and young adults (AYA) is very rare. Known predisposition syndromes include Lynch syndrome (LS) due to highly penetrant MLH1 and MSH2 alleles, familial adenomatous polyposis (FAP), constitutional mismatch-repair ...
Esther Schamschula, Miriam Kinzel, Annekatrin Wernstedt, Klaus Oberhuber, Hendrik Gottschling, Simon Schnaiter, Nicolaus Friedrichs, Sabine Merkelbach-Bruse, Johannes Zschocke, Richard Gallon, Katharina Wimmer   +10 more
doaj   +1 more source

Therapeutic HDAC inhibition in hypermutant diffuse intrinsic pontine glioma

Neoplasia: An International Journal for Oncology Research, 2023
Constitutional mismatch repair deficiency (CMMRD) is a cancer predisposition syndrome associated with the development of hypermutant pediatric high-grade glioma, and confers a poor prognosis.
Alyssa Noll, Carrie Myers, Matthew C. Biery, Michael Meechan, Sophie Tahiri, Asmitha Rajendran, Michael E. Berens, Danyelle Paine, Sara Byron, Jiaming Zhang, Conrad Winter, Fiona Pakiam, Sarah E.S. Leary, Bonnie L. Cole, Evangeline R. Jackson, Matthew D. Dun, Jessica B. Foster, Myron K. Evans, Siobhan S. Pattwell, James M. Olson, Nicholas A. Vitanza   +20 more
doaj   +1 more source

Proofreading deficiency of Pol I increases the levels of spontaneous rpoB mutations in E. coli [PDF]

, 2011
The fidelity role of DNA polymerase I in chromosomal DNA replication in E. coli was investigated using the rpoB forward target. These experiments indicated that in a strain carrying a proofreading-exonuclease-defective form of Pol I (polAexo mutant) the ...
Jonczyk, Piotr, K. Makiela-Dzbenska, P. Jonczyk, Fijalkowska, Iwona J., Schaaper, Roel, R.M. Schaaper, I.J. Fijalkowska, Makiela-Dzbenska, Karolina   +7 more
core   +2 more sources

High‐Entropy Alloy Interlayers Toward Advanced Joining for High‐Performance Structural Applications: Current Progress and Emerging Challenges

Advanced Engineering Materials, EarlyView.
HEA interlayers offer a versatile route for joining high‐performance structural materials. Their compositional and structural design regulates interfacial reactions, suppresses brittle IMCs, and improves metallurgical bonding. Sandwich interlayers further integrate defect healing with precipitation strengthening, enabling improved strength–ductility ...
Lin Yuan, Jiafen Song, Jinglong Li, Jiangtao Xiong, Tao Yang   +4 more
wiley   +1 more source

Knowing education in Thailand like a global expert organisation: Politics, context and data

British Educational Research Journal, EarlyView.
Abstract Global expert organisations play increasingly significant roles in the way that education is understood and governed internationally, including by influencing the discourses through which education is conceptualised and shaping norms of what counts as success, failure, progress and the most desirable visions for the future.
Steve Puttick, Chris Atkin, Wayne Dyble, Nick Gee, Ami Montgomery, Chawin Pongpajon, Waewalee Waewchimplee   +6 more
wiley   +1 more source

Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome

, 2009
International audienceBiallelic germline mutations in the mismatch repair genes MLH1, MSH2, MSH6 or PMS2 cause a recessive childhood cancer syndrome characterized by early-onset malignancies and signs reminiscent of neurofibromatosis type 1 (NF1 ...
Wimmer, Katharina, Pollett, Aaron, Kratz, Christian P, Holter, Spring, Lauten, Melchior, Holter, S., Etzler, Julia, Etzler, J., Gallinger, Steven, Kratz, Christian Peter, Niemeyer, Charlotte Marie, Wimmer, Kerstin, Niemeyer, Charlotte M   +12 more
core   +1 more source

A multilevel perspective on MSH6‐associated Lynch syndrome: Integrating molecular, biological, and clinical insights

International Journal of Cancer, EarlyView.
Abstract Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by a germline pathogenic variant in one of the mismatch repair (MMR) genes. Among these, MSH6‐associated LS represents a distinct subtype with unique molecular and clinical characteristics.
Salwa Ben Yahia, Anne‐Sophie van der Werf‐'t Lam, Madalina Cabuta, Maartje Nielsen, Noah C. Helderman   +4 more
wiley   +1 more source

Organoids and metastatic orthotopic mouse model for mismatch repair-deficient colorectal cancer

Frontiers in Oncology, 2023
BackgroundGenome integrity is essential for the survival of an organism. DNA mismatch repair (MMR) genes (e.g., MLH1, MSH2, MSH6, and PMS2) play a critical role in the DNA damage response pathway for genome integrity maintenance.
Yurong Song, Travis D. Kerr, Chelsea Sanders, Lisheng Dai, Shaneen S. Baxter, Brandon Somerville, Ryan N. Baugher, Stephanie D. Mellott, Todd B. Young, Heidi E. Lawhorn, Teri M. Plona, Bingfang Xu, Lei Wei, Qiang Hu, Song Liu, Alan Hutson, Baktiar Karim, Sandra Burkett, Simone Difilippantonio, Ligia Pinto, Johannes Gebert, Matthias Kloor, Steven M. Lipkin, Shizuko Sei, Robert H. Shoemaker   +24 more
doaj   +1 more source

Human biomarker navigator

iMeta, EarlyView.
The Human Biomarker Navigator integrates the disease continuum, biomarker dynamics, cross‐organ biomarker networks, biomarker classification, and technology‐driven paradigms. It maps how biomarkers link multi‐system physiology and pathology across the nervous, respiratory, endocrine, circulatory, immune, digestive, urinary, reproductive, and ...
Meng‐Yao Li, Qian Zhang, Zijie Wang, Zeping Gui, Jing Liu, Jingda Li, Maojun Jiang, Zukang Chang, Qingqing Han, Bendong Yang, Tariq Saeed, Jun Li, Jinghan Jia, Chenghu Song, Tong Shao, Tianhuan Peng, Xueying Zhang, Pingping Guo, Jun Luo, Gangao Yang, Yuan Wan, Gokhan Zengin, Quan Yuan, Lingru Li, Xiaohui Fan, Yang Luo, Lvyun Zhu, Yanfei Zheng, Wenjun Mao, Wenlong Sun   +29 more
wiley   +1 more source

Constitutional mismatch repair deficiency syndrome Background [PDF]

, 2015
Constitutional mismatch repair deficiency (CMMRD) syndrome is characterised by a significantly increased risk for developing cancer in childhood. It arises when both parents have a mutation in the same mismatch repair gene and pass it on to their child ...
Wesseling, Pieter, Hoogerbrugge, N., Wesseling, P., Hoogerbrugge, N, Gidding, C.E., Loeffen, J., Gidding, Corrie E., Jongmans, Marjolijn C., Mensenkamp, Arjen, Mensenkamp, A., Jongmans, M.C., Gidding, CE, Mensenkamp, AR, Wesseling, P, Loeffen, Jan, Jongmans, MCJ, Hoogerbrugge, Nicoline   +16 more
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