Results 201 to 210 of about 32,048 (238)

MSH2 AND MSH6 GENES ARE METHYLATED IN AMELOBLASTOMA

Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 2020
Objective: To analyze the methylation status of the genes MSH2, MSH3, and MSH6 in ameloblastomas. Study Design: Fresh samples of ameloblastoma (group 1, n = 10) and dental follicles (group 2, n = 10) were digested and their DNA was isolated for quantitative polymerase chain reaction (qPCR).
GLEYSON KLEBER DO AMARAL-SILVA, THAIS DOS SANTOS FONTES PEREIRA, CIRO DANTAS SOARES, ANA CAROLINA PRADO RIBEIRO, ANDRé CAROLI ROCHA, RICARDO SANTIAGO GOMEZ, PABLO AGUSTIN VARGAS   +6 more
openaire   +1 more source

Novel dominant mutations in Saccharomyces cerevisiae MSH6

Nature Genetics, 2000
Inherited mutations in the mismatch repair (MMR) genes MSH2 and MLH1 are found in most hereditary nonpolyposis colon cancer (HNPCC) patients studied. Eukaryotic MMR uses two partially redundant mispair-recognition complexes, Msh2p-Msh6p and Msh2p-Msh3p (ref.2) Inactivation of MSH2 causes high rates of accumulation of both base-substitution and ...
R, Das Gupta, R D, Kolodner
openaire   +2 more sources

Sub-cellular localization analysis of MSH6 missense mutations does not reveal an overt MSH6 nuclear transport impairment

Familial Cancer, 2012
Nearly one-third of the identified MSH6 germline mutations deal with single amino acid substitutions. For an effective genetic counselling it is necessary to clearly elucidate by functional tools the specific sub-processes underlying the mismatch repair (MMR) misfunctioning in MSH6 non-truncating mutants.
Belvederesi, Laura, Bianchi, Francesca, Loretelli, Cristian, Bracci, Raffaella, Cascinu, Stefano, Cellerino, Riccardo   +5 more
openaire   +2 more sources

Heterogenous MSH6 Loss Is a Result of Microsatellite Instability Within MSH6 and Occurs in Sporadic and Hereditary Colorectal and Endometrial Carcinomas

American Journal of Surgical Pathology, 2015
Mismatch-repair (MMR) immunohistochemistry is used to detect tumor MMR deficiency associated with high-level microsatellite instability (MSI). Rare tumors show heterogenous loss of mutS homolog 6 (MSH6) with immunohistochemistry, defined by areas of retained staining and separate areas of complete loss of staining.
Rondell P, Graham, Sarah E, Kerr, Malinda L, Butz, Stephen N, Thibodeau, Kevin C, Halling, Thomas C, Smyrk, Michelle A, Dina, Victoria M, Waugh, Kandelaria M, Rumilla   +8 more
openaire   +2 more sources

MSH6 Mutation in a Family Affected by Muir–Torre Syndrome

The American Journal of Dermatopathology, 2012
Muir-Torre syndrome (MTS), a phenotypic variant of the more common hereditary nonpolyposis colorectal cancer syndrome, or Lynch syndrome, is an autosomal dominantly inherited condition that combines at least one cutaneous sebaceous neoplasm and at least one visceral malignancy.
Denisa, Kacerovska, Katerina, Cerna, Petr, Martinek, Petr, Grossmann, Michal, Michal, Jan, Ricar, Dmitry V, Kazakov   +6 more
openaire   +2 more sources

Compound Heterozygosity for MSH6 Mutations in a Pediatric Lymphoma Patient

Journal of Pediatric Hematology/Oncology, 2009
An 8-year-old male with lymphoblastic lymphoma was noted to have multiple café-au-lait macules and possible Lisch nodules. Work-up revealed the child as compound heterozygous for mutations in the DNA mismatch repair gene, MSH6. This case emphasizes many clinical issues regarding individuals with biallelic mismatch repair mutations, a rare and easily ...
Antoinette, Peters, Hayley, Born, Robert, Ettinger, Peter, Levonian, Kerry Baldwin, Jedele   +4 more
openaire   +2 more sources

An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC

Familial Cancer, 2009
Mutations in DNA mismatch repair genes underlie lynch syndrome (HNPCC). Lynch syndrome resulting from mutations in MSH6 is considered to be attenuated in comparison to that caused by mutations in MLH1 and MSH2, thus more likely to be under diagnosed. In this study we report of a common mutation in the MSH6 gene in Ashkenazi Jews. Genetic counseling and
Yael, Goldberg, Rinnat M, Porat, Inbal, Kedar, Chen, Shochat, Daliah, Galinsky, Tamar, Hamburger, Ayala, Hubert, Hana, Strul, Revital, Kariiv, Liat, Ben-Avi, Moran, Savion, Eli, Pikarsky, Dvorah, Abeliovich, Dani, Bercovich, Israela, Lerer, Tamar, Peretz   +15 more
openaire   +2 more sources

Expression of MSH2 and MSH6 on a tissue microarray in patients with osteosarcoma.

Anticancer research, 2014
Reliable prognostic factors for the outcome of patients with osteosarcoma (OS) remain elusive. We analyzed the relationship between immunohistochemical expression of deoxyribonucleic acid (DNA) mismatch repair (MMR) proteins, MutS protein homolog 2 (MSH2) and MSH6 using a tissue microarray (TMA) with respect to OS patient demographics and survival time.
Jentzsch, Thorsten, Robl, Bernhard, Husmann, Maren, Bode-Lesniewska, Beata, Fuchs, Bruno   +4 more
openaire   +2 more sources

Mlh1 interacts with both Msh2 and Msh6 for recruitment during mismatch repair

DNA Repair, 2022
Felipe A Calil, Richard D Kolodner, Christopher D Putnam   +2 more
exaly  

Early age of onset and broad cancer spectrum persist in MSH6- and PMS2-associated Lynch syndrome

Genetics in Medicine, 2022
Ying L Liu, Anna Maio, Zalak Patel
exaly