Results 41 to 50 of about 44,743 (233)

Target enrichment using parallel nanoliter quantitative PCR amplification [PDF]

, 2014
Background: Next generation targeted resequencing is replacing Sanger sequencing at high pace in routine genetic diagnosis. The need for well validated, high quality enrichment platforms to complement the bench-top next generation sequencing devices is ...
De Wilde, Bram, Derveaux, Stefaan, Dong, Wes, Dunne, Jude, Hellemans, Jan, Husain, Syed, Lefever, Steve, Vandesompele, Jo   +7 more
core   +2 more sources

MLH1–93 G/a polymorphism is associated with MLH1 promoter methylation and protein loss in dysplastic sessile serrated adenomas with BRAFV600E mutation

BMC Cancer, 2018
Background Sessile serrated adenomas with BRAF mutation progress rapidly to cancer following the development of dysplasia (SSAD). Approximately 75% of SSADs methylate the mismatch repair gene MLH1, develop mismatch repair deficiency and the resultant ...
Lochlan J. Fennell, Saara Jamieson, Diane McKeone, Tracie Corish, Megan Rohdmann, Tori Furner, Mark Bettington, Cheng Liu, Futoshi Kawamata, Catherine Bond, Jolieke Van De Pols, Barbara Leggett, Vicki Whitehall   +12 more
doaj   +1 more source

MLH1 Deficiency Induces Cetuximab Resistance in Colon Cancer via Her‐2/PI3K/AKT Signaling

Advanced Science, 2020
The rapid onset of resistance to cetuximab (CTX) limits its clinical utility in colorectal cancer (CRC) patients. This study aims to understand a potential role of mismatch repair gene mutL homolog 1 (MLH1) in CTX response. Functional analysis of MLH1 in
Ying Han, Yinghui Peng, Yaojie Fu, Changjing Cai, Cao Guo, Shanshan Liu, Yiyi Li, Yihong Chen, Edward Shen, Kexin Long, Xinwen Wang, Jian Yu, Hong Shen, Shan Zeng   +13 more
doaj   +1 more source

FGFR2 amplification in colorectal adenocarcinoma [PDF]

, 2017
FGFR2 is recurrently amplified in 5% of gastric cancers and 1%–4% of breast cancers; however, this molecular alteration has never been reported in a primary colorectal cancer specimen.
Carter, Jamal H, Cottrell, Catherine E, Duncavage, Eric J, Heusel, Jonathan W, Lamp, Stephen, McNulty, Samantha N, Vigh-Conrad, Katinka A   +6 more
core   +2 more sources

Immunophenotype of Atypical Polypoid Adenomyoma of the Uterus: Diagnostic Value and Insight on Pathogenesis [PDF]

, 2020
Atypical polypoid adenomyoma (APA) is a rare uterine lesion constituted by atypical endometrioid glands, squamous morules, and myofibromatous stroma. We aimed to assess the immunophenotype of the 3 components of APA, with regard to its pathogenesis and ...
Aggarwal, Ayhan, Chiarelli, Di Palma, Fukunaga, Giampaolino, Heatley, Horita, Houghton, Jiang, Kuwashima, Lin, Longacre, Lu, Ma, Mazur, McAlpine, McCluggage, McCluggage, Moher, Nei, Nomura, Nomura, Němejcová, Ohishi, Ota, Raffone, Raffone, Raffone, Raffone, Raffone, Raffone, Ramos, Stelloo, Strickland, Takahashi, Talhouk, Terada, Travaglino, Travaglino, Travaglino, Travaglino, Travaglino, Travaglino, Travaglino, Young, Zhang   +46 more
core   +1 more source

Functional effects of the MLH1-93G>A polymorphism on MLH1/EPM2AIP1 promoter activity

Oncology Reports, 2011
Defective mismatch repair leads to the microsatellite instability (MSI) phenotype of colorectal cancer (CRC). We previously showed that the MLH1-93G>A promoter polymorphism is strongly associated with MSI tumours, suggesting a modifier role for this polymorphism in CRC. The MLH1 promoter is bi-directional with the EPM2AIP1 gene located on the antisense
Sheron, Perera, Miralem, Mrkonjic, James B, Rawson, Bharati, Bapat   +3 more
openaire   +3 more sources

MLH1 deficiency leads to deregulated mitochondrial metabolism [PDF]

Cell Death & Disease, 2019
AbstractThe DNA mismatch repair (MMR) pathway is responsible for the repair of base–base mismatches and insertion/deletion loops that arise during DNA replication. MMR deficiency is currently estimated to be present in 15–17% of colorectal cancer cases and 30% of endometrial cancers.
Sukaina Rashid, Marta O. Freitas, Danilo Cucchi, Gemma Bridge, Zhi Yao, Laura Gay, Marc Williams, Jun Wang, Nirosha Suraweera, Andrew Silver, Stuart A. C. McDonald, Claude Chelala, Gyorgy Szabadkai, Sarah A. Martin   +13 more
openaire   +5 more sources

Licensing MLH1 sites for crossover during meiosis [PDF]

Nature Communications, 2014
During meiosis, homologous chromosomes synapse and recombine at sites marked by the binding of the mismatch repair protein MLH1. In hexaploid wheat, the Ph1 locus has a major effect on whether crossover occurs between homologues or between related homoeologues.
Martín Ramírez, Azahara Carmen, Shaw, Peter, Phillips, Dylan, Reader, Steve, Moore, Graham   +4 more
openaire   +3 more sources

Evaluation of MLH1 variants of unclear significance [PDF]

Genes, Chromosomes and Cancer, 2018
Abstract Inactivating mutations in the MLH1 gene cause the cancer predisposition Lynch syndrome, but for small coding genetic variants it is mostly unclear if they are inactivating or not.
Nicole Köger, Lea Paulsen, Francisco López‐Kostner, Adriana Della Valle, Carlos Alberto Vaccaro, Edenir Inêz Palmero, Karin Alvarez, Carlos Sarroca, Florencia Neffa, Pablo German Kalfayan, Maria Laura Gonzalez, Benedito Mauro Rossi, Rui Manuel Reis, Angela Brieger, Stefan Zeuzem, Inga Hinrichsen, Mev Dominguez‐Valentin, Guido Plotz   +17 more
openaire   +3 more sources

Association between colorectal cancer, the frequency of Bacteroides fragilis, and the level of mismatch repair genes expression in the biopsy samples of Iranian patients

BMC Gastroenterology
Background Deficient DNA mismatch repair (MMR) can cause microsatellite instability (MSI) and is more common in colorectal cancer (CRC) patients.
Nooshin Nazarinejad, Bahareh Hajikhani, Amir Abbas Vaezi, Farzaneh Firoozeh, Fatemeh Sameni, Somayeh Yaslianifard, Mehdi Goudarzi, Masoud Dadashi   +7 more
doaj   +1 more source