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https://www.readbyqxmd.com/read/28808021/kinetic-and-high-throughput-profiling-of-epigenetic-interactions-by-3d-carbene-chip-based-surface-plasmon-resonance-imaging-technology
#1
Shuai Zhao, Mo Yang, Wenfei Zhou, Baichao Zhang, Zhiqiang Cheng, Jiaxin Huang, Min Zhang, Zhiyou Wang, Rui Wang, Zhonglei Chen, Jinsong Zhu, Haitao Li
Chemical modifications on histones and DNA/RNA constitute a fundamental mechanism for epigenetic regulation. These modifications often function as docking marks to recruit or stabilize cognate "reader" proteins. So far, a platform for quantitative and high-throughput profiling of the epigenetic interactome is urgently needed but still lacking. Here, we report a 3D-carbene chip-based surface plasmon resonance imaging (SPRi) technology for this purpose. The 3D-carbene chip is suitable for immobilizing versatile biomolecules (e...
August 14, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28801584/differences-of-protein-expression-profiles-kras-and-braf-mutation-and-prognosis-in-right-sided-colon-left-sided-colon-and-rectal-cancer
#2
Xian Hua Gao, Guan Yu Yu, Hai Feng Gong, Lian Jie Liu, Yi Xu, Li Qiang Hao, Peng Liu, Zhi Hong Liu, Chen Guang Bai, Wei Zhang
To compare protein expression levels, gene mutation and survival among Right-Sided Colon Cancer (RSCC), Left-Sided Colon Cancer (LSCC) and rectal cancer patients, 57 cases of RSCC, 87 LSCC and 145 rectal cancer patients were included retrospectively. Our results demonstrated significant differences existed among RSCC, LSCC and rectal cancer regarding tumor diameter, differentiation, invasion depth and TNM stage. No significant difference was identified in expression levels of MLH1, MSH2, MSH6, PMS2, β-Tubulin III, P53, Ki67 and TOPIIα, and gene mutation of KRAS and BRAF among three groups...
August 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28800532/cell-cycle-arrest-mediated-by-cd-induced-dna-damage-in-arabidopsis-root-tips
#3
Weina Cui, Hetong Wang, Jie Song, Xia Cao, Hilary J Rogers, Dennis Francis, Chunyun Jia, Lizong Sun, Meifang Hou, Yuesuo Yang, Peidong Tai, Wan Liu
Accumulating evidence demonstrates that the aberrant expression of cell cycle regulation and DNA repair genes can result in abnormal cell proliferation and genomic instability in eukaryotic cells under different stresses. Herein, Arabidopsis thaliana (Arabidopsis) seedlings were grown hydroponically on 0.5 × MS media containing cadmium (Cd) at 0-2.5mgL(-1) for 5d of treatment. Real time quantitative reverse transcription-polymerase chain reaction (qRT-PCR) analysis revealed that expression of DNA damage repair and cell cycle regulation genes, including BRCA1, MRE11, WEE1, CDKA;1 and PCNA1, showed an inverted U-shaped dose-response...
August 8, 2017: Ecotoxicology and Environmental Safety
https://www.readbyqxmd.com/read/28795426/blinded-histopathological-characterisation-of-pole-exonuclease-domain-mutant-endometrial-cancers-sheep-in-wolf-s-clothing
#4
Inge C Van Gool, Jef E H Ubachs, Ellen Stelloo, Cor D de Kroon, Jelle J Goeman, Vincent T H B M Smit, Carien L Creutzberg, Tjalling Bosse
AIMS: POLE exonuclease domain mutations identify a subset of endometrial cancer (EC) patients with an excellent prognosis. Implementation of this biomarker has been suggested to refine adjuvant treatment decisions, but the necessary sequencing is not widely performed and relatively expensive. Therefore, we aimed to identify histopathological and immunohistochemical characteristics to aid the detection of POLE-mutant ECs. METHODS AND RESULTS: Fifty-one POLE-mutant endometrioid, 67 POLE-wild-type endometrioid and 15 POLE-wild-type serous ECs were included (total N=133)...
August 10, 2017: Histopathology
https://www.readbyqxmd.com/read/28776572/molecular-based-classification-algorithm-for-endometrial-carcinoma-categorizes-ovarian-endometrioid-carcinoma-into-prognostically-significant-groups
#5
Carlos Parra-Herran, Jordan Lerner-Ellis, Bin Xu, Sam Khalouei, Dina Bassiouny, Matthew Cesari, Nadia Ismiil, Sharon Nofech-Mozes
The Cancer Genome Atlas classification divides endometrial carcinoma in biologically distinct groups, and testing for p53, mismatch repair proteins (MMR), and polymerase ɛ (POLE) exonuclease domain mutations has been shown to predict the molecular subgroup and clinical outcome. While abnormalities in these markers have been described in ovarian endometrioid carcinoma, their role in predicting its molecular profile and prognosis is still not fully explored. Patients with ovarian endometrioid carcinomas treated surgically in a 14-year period were selected...
August 4, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28772289/association-of-mismatch-repair-mutation-with-age-at-cancer-onset-in-lynch-syndrome-implications-for-stratified-surveillance-strategies
#6
Neil A J Ryan, Julie Morris, Kate Green, Fiona Lalloo, Emma R Woodward, James Hill, Emma J Crosbie, D Gareth Evans
Importance: Lynch syndrome is caused by dominantly inherited germline mutations that predispose individuals to colorectal, endometrial, ovarian, and other cancers through inactivation of the cellular mismatch repair system. Lynch syndrome-associated cancers are amenable to surveillance strategies that may improve survival. The age at which surveillance should start is disputed. Objective: To determine whether mutated gene and type of mutation influence age at onset of Lynch syndrome-associated cancers...
August 3, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/28769567/thyroid-cancer-in-a-patient-with-lynch-syndrome-case-report-and-literature-review
#7
Monika Fazekas-Lavu, Andrew Parker, Allan D Spigelman, Rodney J Scott, Richard J Epstein, Michael Jensen, Katherine Samaras
Lynch syndrome describes a familial cancer syndrome comprising germline mutations in one of four DNA mismatch repair genes, MLH1, MSH2, MSH6, and PMS2 and is characterized by colorectal, endometrial, and other epithelial malignancies. Thyroid cancer is not usually considered to be part of the constellation of Lynch syndrome cancers nor have Lynch syndrome tumor gene mutations been reported in thyroid malignancies. This study reports a woman with Lynch syndrome (colonic cancer and a DNA mismatch repair mutation in the MSH2 gene) with a synchronous papillary thyroid cancer...
2017: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/28754778/cancer-risk-and-survival-in-path_mmr-carriers-by-gene-and-gender-up-to-75-years-of-age-a-report-from-the-prospective-lynch-syndrome-database
#8
Pål Møller, Toni T Seppälä, Inge Bernstein, Elke Holinski-Feder, Paulo Sala, D Gareth Evans, Annika Lindblom, Finlay Macrae, Ignacio Blanco, Rolf H Sijmons, Jacqueline Jeffries, Hans F A Vasen, John Burn, Sigve Nakken, Eivind Hovig, Einar Andreas Rødland, Kukatharmini Tharmaratnam, Wouter H de Vos Tot Nederveen Cappel, James Hill, Juul T Wijnen, Mark A Jenkins, Kate Green, Fiona Lalloo, Lone Sunde, Miriam Mints, Lucio Bertario, Marta Pineda, Matilde Navarro, Monika Morak, Laura Renkonen-Sinisalo, Mev Dominguez Valentin, Ian M Frayling, John-Paul Plazzer, Kirsi Pylvanainen, Maurizio Genuardi, Jukka-Pekka Mecklin, Gabriela Moeslein, Julian R Sampson, Gabriel Capella
BACKGROUND: Most patients with path_MMR gene variants (Lynch syndrome (LS)) now survive both their first and subsequent cancers, resulting in a growing number of older patients with LS for whom limited information exists with respect to cancer risk and survival. OBJECTIVE AND DESIGN: This observational, international, multicentre study aimed to determine prospectively observed incidences of cancers and survival in path_MMR carriers up to 75 years of age. RESULTS: 3119 patients were followed for a total of 24 475 years...
July 28, 2017: Gut
https://www.readbyqxmd.com/read/28752845/mismatch-repair-status-and-pd-l1-expression-in-clear-cell-carcinomas-of-the-ovary-and-endometrium
#9
Brian C Willis, Emily A Sloan, Kristen A Atkins, Mark H Stoler, Anne M Mills
Clear cell carcinoma represents a distinct histologic type of müllerian carcinoma that is resistant to conventional chemotherapy. Expression of programmed cell death ligand (PD-L1) has been associated with immune evasion in numerous tumor types and may be used to identify patients who will benefit from targeted immunotherapy, particularly in the setting of mismatch repair defects. We evaluated PD-L1 expression in 23 ovarian clear cell carcinomas and 21 endometrial clear cell carcinomas, and correlated expression with mismatch repair status...
July 28, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28749576/review-of-the-current-medical-literature-and-assessment-of-current-utilization-patterns-regarding-mismatch-repair-protein-immunohistochemistry-in-cutaneous-muir-torre-syndrome-associated-neoplasms
#10
REVIEW
Jason B Lee, Brandon R Litzner, Claudia I Vidal
Muir-Torre syndrome is a clinical variant of Lynch syndrome defined by the synchronous or metachronous occurrence of at least one sebaceous neoplasm and at least one Lynch syndrome-related internal cancer. Although screening guidelines for patients with colorectal carcinomas have been established, screening guidelines for cutaneous Muir-Torre associated neoplasms are not currently available. As such, we reviewed the current evidence for the use of MLH1, MSH2, MSH6, and PMS2 immunohistochemistry when cutaneous Muir-Torre associated neoplasms are encountered...
July 27, 2017: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/28749535/inhibition-of-histone-deacetylases-sensitizes-egfr-tki-resistant-non-small-cell-lung-cancer-cells-to-erlotinib-in-vitro-and-in-vivo
#11
Weiwei Yu, Weiqiang Lu, Guoliang Chen, Feixiong Cheng, Hui Su, Yihua Chen, Mingyao Liu, Xiufeng Pang
BACKGROUND AND PURPOSE: Intrinsic and/or acquired resistance of epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs) commonly occurs in patients with non-small-cell lung cancer (NSCLC). Here, we develop a combined therapy of histone deacetylase inhibition by a novel HDAC inhibitor, YF454A, with erlotinib to overcome EGFR-TKI resistance in NSCLC. EXPERIMENTAL APPROACH: The sensitization of erlotinib by YF454A was examined in a panel of EGFR-TKI-resistant NSCLC cell lines in vitro and two different erlotinib-resistant NSCLC xenograft mouse models in vivo...
July 27, 2017: British Journal of Pharmacology
https://www.readbyqxmd.com/read/28732364/a-novel-heterozygous-germline-deletion-in-msh2-gene-in-a-five-generation-chinese-family-with-lynch-syndrome
#12
Bin Wu, Wuyang Ji, Shengran Liang, Chao Ling, Yan You, Lai Xu, Min-Er Zhong, Yi Xiao, Hui-Zhong Qiu, Jun-Yang Lu, Santasree Banerjee
Lynch syndrome (LS) is one of the most common familial forms of colorectal cancer predisposing syndrome with an autosomal dominant mode of inheritance. LS is caused by the germline mutations in DNA mismatch repair (MMR) genes including MSH2, MLH1, MSH6and PMS2. Clinically, LS is characterized by high incidence of early-onset colorectal cancer as well as endometrial, small intestinal and urinary tract cancers, usually occur in the third to fourth decade of the life. Here we describe a five generation Chinese family with LS clinically diagnosed according to the Amsterdam II criteria...
July 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/28730249/sebaceoma-associated-with-seborrheic-keratosis
#13
Angel Fernandez-Flores, José Antonio Manjón
Sebaceoma associated with seborrheic keratosis has only been described once in the literature. Herein, we present an additional case in a 69-year-old woman who complained of a multicolored plaque on the left breast. Dermatoscopy showed a central orange lesion with orange globules suggestive of dilated glands. The periphery of the lesion was brown and gray, with some more pigmented zones. The histopathological study demonstrated a seborrheic keratosis in the peripheral areas, whereas the central part of the lesion was a sebaceoma...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28728506/microsatellite-instability-and-promoter-hypermethylation-of-dna-repair-genes-in-hematologic-malignancies-a-forthcoming-direction-toward-diagnostics
#14
Priyanjali Bhattacharya, Trupti N Patel
OBJECTIVE: The objective of our review is to highlight the significance of microsatellite hypervariation in diagnostics of hematologic malignancies. METHODS: For the past few decades, extensive experiments in cancer research have explored all the possible pathways and a number of deleterious mutations that either make the tumor suppressor genes (TSGs) dysfunctional or cause the proto-oncogenes to behave abnormally by changing the cellular phenotype hence rendering disease...
July 20, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28701629/atypical-pituitary-adenoma-with-men1-somatic-mutation-associated-with-abnormalities-of-dna-mismatch-repair-genes-mlh1-germline-mutation-and-msh6-somatic-mutation
#15
Shinsuke Uraki, Hiroyuki Ariyasu, Asako Doi, Hiroto Furuta, Masahiro Nishi, Kokichi Sugano, Naoko Inoshita, Naoyuki Nakao, Shozo Yamada, Takashi Akamizu
The mechanism of pituitary tumorigenesis remains largely unknown. Lynch syndrome is an autosomal, dominantly inherited syndrome caused by a defective mismatch repair (MMR) mechanism involved in the development of various tumors at an early age. In this case study, we showed the occurrence of pituitary tumors associated with Lynch syndrome for the first time and performed genetic and immunohistochemical analysis to evaluate the genetic aberrations that might be related to the tumorigenesis and proliferation...
July 13, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/28699072/expending-role-of-microsatellite-instability-in-diagnosis-and-treatment-of-colorectal-cancers
#16
REVIEW
Liisa Chang, Minna Chang, Hanna M Chang, Fuju Chang
BACKGROUND: Colorectal carcinomas with high-frequency microsatellite instability (MSI-H) account for 15% of all colorectal cancers, including 12% of sporadic cases and 3% of cancers associated with Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer syndrome, HNPCC). Lynch syndrome is an autosomal dominant hereditary cancer syndrome, caused by germline mutations in mismatch repair genes, including MLH1, MSH2, MSH6 and PMS2. METHODS: Published articles from peer-reviewed journals were obtained from PubMed, Google Scholar and Clinicaltrials...
July 11, 2017: Journal of Gastrointestinal Cancer
https://www.readbyqxmd.com/read/28697982/prostate-cancer-screening-in-a-new-era-of-genetics
#17
Heather H Cheng, Colin C Pritchard, Bruce Montgomery, Daniel W Lin, Peter S Nelson
Men who inherit pathogenic germline mutations in BRCA2 and BRCA1 are at increased risk of developing aggressive prostate cancer, and those with germline mutations in other DNA repair genes such as ATM, CHEK2, and MSH2/MSH6 may also have increased risks. Although clinically important, there is lack of specific guidance regarding management strategies for men at increased risk owing to germline mutation status or family history of aggressive prostate cancer. We review prostate cancer genetic risk factors and the ongoing IMPACT (Identification of Men with a genetic predisposition to ProstAte Cancer: Targeted screening in BRCA1/2 mutation carriers and controls) screening study...
May 31, 2017: Clinical Genitourinary Cancer
https://www.readbyqxmd.com/read/28696559/genetic-testing-for-hereditary-nonpolyposis-colorectal-cancer-hnpcc
#18
Babi Ramesh Reddy Nallamilli, Madhuri Hegde
Hereditary nonpolyposis colorectal cancer (HNPCC), also called Lynch syndrome, is an autosomal dominant cancer syndrome that confers an elevated risk of early-onset colorectal cancer (CRC) and increased lifetime risk for other cancers of the endometrium, stomach, small intestine, hepatobiliary system, kidney, ureter, and ovary. Lynch syndrome accounts for up to 3% of all CRC, making it the most common hereditary colorectal cancer syndrome. Germline mutations in methyl-directed mismatch repair (MMR) genes give rise to microsatellite instability (MSI) in tumor DNA...
July 11, 2017: Current Protocols in Human Genetics
https://www.readbyqxmd.com/read/28695303/a-comparison-of-cosegregation-analysis-methods-for-the-clinical-setting
#19
John Michael O Rañola, Quanhui Liu, Elisabeth A Rosenthal, Brian H Shirts
Quantitative cosegregation analysis can help evaluate the pathogenicity of genetic variants. However, genetics professionals without statistical training often use simple methods, reporting only qualitative findings. We evaluate the potential utility of quantitative cosegregation in the clinical setting by comparing three methods. One thousand pedigrees each were simulated for benign and pathogenic variants in BRCA1 and MLH1 using United States historical demographic data to produce pedigrees similar to those seen in the clinic...
July 10, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28689995/sirt1-enhances-the-survival-of-human-embryonic-stem-cells-by-promoting-dna-repair
#20
Jiho Jang, Yong Jun Huh, Hyun-Ju Cho, Boram Lee, Jaepil Park, Dong-Youn Hwang, Dong-Wook Kim
Human embryonic stem cells (hESCs) hold great promise for the treatment of many incurable diseases. Sirtuin1 (SIRT1), a class III histone deacetylase, is abundantly expressed in hESCs and is known to regulate early differentiation and telomere elongation. Here, we show that downregulation of SIRT1 promotes cell death in hESCs, but not in differentiated cells, and the SIRT1-inhibition-mediated cell death is preceded by increased DNA damage. This increased DNA damage is at least partially due to decreased levels of DNA repair enzymes such as MSH2, MSH6, and APEX1...
August 8, 2017: Stem Cell Reports
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