Results 41 to 50 of about 16,168 (189)

Dimerization of MLH1 and PMS2 Limits Nuclear Localization of MutLα [PDF]

Molecular and Cellular Biology, 2003
DNA mismatch repair maintains genomic stability by detecting and correcting mispaired DNA sequences and by signaling cell death when DNA repair fails. The mechanism by which mismatch repair coordinates DNA damage and repair with cell survival or death is not understood, but it suggests the need for regulation. Since the functions of mismatch repair are
Xiaosheng, Wu, Jeffrey L, Platt, Marilia, Cascalho   +2 more
openaire   +2 more sources

Genotypes of Papillary Thyroid Carcinoma With High Lateral Neck Metastasis in Chinese Population

Frontiers in Oncology, 2022
Papillary Thyroid Carcinoma (PTC) is one of the most commonly diagnosed cancer types in China, characterized by its early age at diagnosis and high 25-year survival rate.
Wei Guo, Junwei Huang, Taiping Shi, Hanyuan Duan, Xiaohong Chen, Zhigang Huang   +5 more
doaj   +1 more source

Genetic attenuation of ALDH1A1 increases metastatic potential and aggressiveness in colorectal cancer

Molecular Oncology, EarlyView.
Aldehyde dehydrogenase 1A1 (ALDH1A1) is a cancer stem cell marker in several malignancies. We established a novel epithelial cell line from rectal adenocarcinoma with unique overexpression of this enzyme. Genetic attenuation of ALDH1A1 led to increased invasive capacity and metastatic potential, the inhibition of proliferation activity, and ultimately ...
Martina Poturnajova, Zuzana Kozovska, Ondrej Pos, Kristina Pavlov, Sachin Gulati, Peter Makovicky, Kristina Jakic, Monika Burikova, Eva Sedlackova, Barbora Svitkova, Silvia Tyciakova, Vojtech Bystry, Nicolas Blavet, Boris Tichy, Matej Hrnciar, Jaroslav Budis, Miroslav Tomas, Peter Dubovan, Georgina Kolnikova, Veronika Repaska, Nikoleta Mojzesova, Eva Zomborska, Daniel Pindak, Michal Mego, Tomas Szemes, Miroslava Matuskova   +25 more
wiley   +1 more source

Evaluation of pathogenic variants detected in high homology regions of the PMS2 gene. How effective is long-range PCR?

Frontiers in Oncology
IntroductionLynch syndrome (LS) is an inherited cancer predisposition syndrome characterized by a high risk of colorectal and extracolonic tumors. Germline pathogenic variants (GPV) in the PMS2 gene are associated with <15% of all cases.
Daniele Paixão, Thalitta Hetamaro Ayala Lima, Rafaela Rogério Floriano de Souza, Juliana Emilia Prior Carnavalli, Clarissa Gondim Picanço-Albuquerque, Isabelle Joyce de Lima Silva-Fernandes, Paulo Goberlânio de Barros Silva, Miguel Mitne-Neto, Caroline Mônaco Moreira, Wagner Antônio da Rosa Baratela   +9 more
doaj   +1 more source

Common variants in mismatch repair genes associated with increased risk of sperm DNA damage and male infertility

BMC Medicine, 2012
Background The mismatch repair (MMR) pathway plays an important role in the maintenance of the genome integrity, meiotic recombination and gametogenesis.
Ji Guixiang, Long Yan, Zhou Yong, Huang Cong, Gu Aihua, Wang Xinru   +5 more
doaj   +1 more source

Diagnostic challenges in a CMMRD patient with a novel mutation in the PMS2 gene: a case report

BMC Medical Genomics, 2021
Background Constitutional mismatch repair deficiency (CMMRD) is a rare autosomal recessive condition, which is caused by biallelic mutations in mismatch repair genes: MSH2, MLH1, MSH6, and PMS2.
Shiqing Tan, Xiaoting Wu, Aoxue Wang, Li Ying   +3 more
doaj   +1 more source

Fully Humanized Bispecific T Cell Engager Shows Potent Activity in Central Nervous System and Peripheral Tumors

Advanced Science, EarlyView.
This study reports the development of a fully humanized bispecific T cell engager targeting IL13RA2, a tumor‐associated antigen enriched in glioblastoma. This off‐the‐shelf immunotherapy drives potent, antigen‐dependent T cell activation and tumor killing, and prolongs survival in experimental GBM and other solid tumors models without detectable off ...
Joseph T. Duffy, Angela Martin‐Regalado, Benedikt E. Haupt, Jacob R. Pogue, Aditi Thakur, Manuel Fierro Cota, Markella Zannikou, Sol Misener, Vera P. Krymskaya, Kathleen McCortney, Jason Miska, Craig Horbinski, Dmitri Simberg, Maciej S. Lesniak, Charles D. James, Roger Stupp, Irina V. Balyasnikova   +16 more
wiley   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

SNP association study in PMS2-associated Lynch syndrome [PDF]

Familial Cancer, 2017
Lynch syndrome (LS) patients are at high risk of developing colorectal cancer (CRC). Phenotypic variability might in part be explained by common susceptibility loci identified in Genome Wide Association Studies (GWAS). Previous studies focused mostly on MLH1, MSH2 and MSH6 carriers, with conflicting results.
Broeke, S.W. ten, Elsayed, F.A., Pagan, L., Olderode-Berends, M.J.W., Garcia, E.G., Gille, H.J.P., Hest, L.P. van, Letteboer, T.G.W., Kolk, L.E. van der, Mensenkamp, A.R., Os, T.A. van, Spruijt, L., Redeker, B.J.W., Suerink, M., Vos, Y.J., Wagner, A., Wijnen, J.T., Steyerberg, E.W., Tops, C.M.J., Wezel, T. van, Nielsen, M.   +20 more
openaire   +10 more sources

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