Results 111 to 120 of about 23,834 (214)

Novel MSH6 exon 5–6 skipping variant in a Taiwanese family with Lynch syndrome: implications for genetic testing and cancer management

Molecular Cytogenetics
Lynch syndrome is an autosomal dominant disorder predisposing individuals to colorectal and other cancers, primarily caused by variants in mismatch repair genes.
Ting-Yao Wang, Chao-Yu Chen, Huei-Chieh Chuang, Yuan-Yuan Jiang, Jrhau Lung   +4 more
doaj   +1 more source

Evaluation of microsatellite instability patterns in mismatch repair deficiency: a retrospective analysis of 285 endometrial cancers

Frontiers in Immunology
ObjectiveIn this study, we systematically compared the microsatellite shift patterns detected by PCR-based microsatellite instability analysis (PCR-MSI) in mismatch repair (MMR)-deficient ECs and analyzed the clinicopathological features associated with ...
Cheng Wang, Cheng Wang, Min Feng, Min Feng, Yuling Kou, Yuling Kou, Wei Kuang, Wei Kuang, Wei Wang, Wei Wang, Dongni Liang, Dongni Liang   +11 more
doaj   +1 more source

Loss of MSH6 reduces somatic expansions in both males and females.

, 2016
A) Representative examples of the GeneMapper profiles for the PM allele in different organs of 6 month old Msh6+/+ and Msh6-/- males. Tail 1 refers to the tail DNA at 3 weeks of age, while tail 2 refers to the tail sample taken at 6 months of age. B) The
Rachel Lokanga (3151983), Inbal Gazy (778510), Karen Usdin (88334), Kimaada Allette (3151986), Di Wu (23906), Xiao-Nan Zhao (3151989)   +5 more
core   +1 more source

MSH6 Gene [PDF]

, 2020
openaire   +1 more source

MSH6 Negative [PDF]

, 2020
openaire   +1 more source

Importance of the Aspergillus fumigatus Mismatch Repair Protein Msh6 in Antifungal Resistance Development

One of the systems responsible for the recognition and repair of mistakes occurring during cell replication is the DNA mismatch repair (MMR) system. Two major protein complexes constitute the MMR pathway: MutS and MutL. Here, we investigated the possible
Jorge Amich, Alcazar-Fuoli, Laura, Jose Lucio, Alejandra Roldan, Gonzalez-Jimenez, Irene, Roldán, Alejandra, Laura Alcazar-Fuoli, Amich, Jorge, Lucio, Jose, Emilia Mellado, Mellado, Emilia, Irene Gonzalez-Jimenez   +11 more
core   +1 more source

Endoscopic surveillance for colorectal cancer and its precursor lesions in Lynch syndrome; time for some policy shifts?

Hereditary Cancer in Clinical Practice
Background While numerous studies have demonstrated variations in colorectal cancer (CRC) incidence among Lynch Syndrome (LS)-associated germline pathogenic variant (gPV) carriers, limited data are available regarding tailoring surveillance and treatment
Romy N Kuipers, Marissa F Burggraaff, Michiel HJ Maas, Dorien TJ van der Biessen – van Beek, Mariëtte CA van Kouwen, Tanya M Bisseling   +5 more
doaj   +1 more source

Več obrazov sindroma Lynch

Onkologija, 2013
Na Oddelku za molekularno diagnostiko Onkološkega inštituta Ljubljana smo uvedli testiranje zarodnih mutacij vgenu MSH6. Mutacije v tem genu so povezane z Lynchevim sindromom in predstavljajo povečano verjetnost za nastanekraka na debelem črevesu in ...
Uršula Prosenc, Srdjan Novaković
doaj  

Association of a novel frameshift variant and a known deleterious variant in MMR genes with Lynch syndrome in Chinese families

World Journal of Surgical Oncology
Background Lynch syndrome (LS) is the most common hereditary colorectal cancer (CRC) syndrome. This condition is characterized by germline variants in DNA mismatch repair (MMR) genes, including MLH1, MSH2, MSH6, and PMS2.
Juyi Li, Haichun Ni, Xiufang Wang, Wenzhuo Cheng, Li Li, Yong Cheng, Chao Liu, Yuanyuan Li, Aiping Deng   +8 more
doaj   +1 more source

Optimizing of protocols regarding immunohistochemic detection of mismatch repair-proteins

Bioingeniøren, 2019
Background: Immunohistochemical staining can be used to detect mismatch repair proteins such as MLH1, PMS2, MSH2 and MSH6. These proteins are normally expressed in the cell nucleus.
Eirin Amundlien, Renate Sandberg, Lise Eid Wålberg   +2 more
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