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https://www.readbyqxmd.com/read/27404287/genetic-and-epigenetic-methylation-defects-and-implication-of-the-ermn-gene-in-autism-spectrum-disorders
#1
A Homs, M Codina-Solà, B Rodríguez-Santiago, C M Villanueva, D Monk, I Cuscó, L A Pérez-Jurado
Autism spectrum disorders (ASD) are highly heritable and genetically complex conditions. Although highly penetrant mutations in multiple genes have been identified, they account for the etiology of <1/3 of cases. There is also strong evidence for environmental contribution to ASD, which can be mediated by still poorly explored epigenetic modifications. We searched for methylation changes on blood DNA of 53 male ASD patients and 757 healthy controls using a methylomic array (450K Illumina), correlated the variants with transcriptional alterations in blood RNAseq data, and performed a case-control association study of the relevant findings in a larger cohort (394 cases and 500 controls)...
2016: Translational Psychiatry
https://www.readbyqxmd.com/read/25525853/upregulated-genes-at-2q24-gains-as-candidate-oncogenes-in-hepatoblastomas
#2
Tatiane Cristina Rodrigues, Felipe Fidalgo, Cecilia Maria Lima da Costa, Elisa Napolitano Ferreira, Isabela Werneck da Cunha, Dirce Maria Carraro, Ana Cristina Victorino Krepischi, Carla Rosenberg
AIM: Cytogenetic data of hepatoblastomas, a rare embryonal tumor of the liver, mostly consist of descriptions of whole-chromosome aneuploidies and large chromosome alterations. High-resolution cytogenetics may provide clues to hepatoblastoma tumorigenesis and indicate markers with clinical significance. PATIENTS & METHODS: We used array-CGH (180K) to screen for genomic imbalances in nine hepatoblastomas. Additionally, we investigated the expression pattern of selected genes exhibiting copy number changes...
December 2014: Future Oncology
https://www.readbyqxmd.com/read/21947165/differentially-expressed-genes-in-human-peripheral-blood-as-potential-markers-for-statin-response
#3
Hong-Hee Won, Suk Ran Kim, Oh Young Bang, Sang-Chol Lee, Wooseong Huh, Jae-Wook Ko, Hyung-Gun Kim, Howard L McLeod, Thomas M O'Connell, Jong-Won Kim, Soo-Youn Lee
There is a considerable inter-individual variation in response to statin therapy and one third of patients do not meet their treatment goals. We aimed to identify differentially expressed genes that might be involved in the effects of statin treatment and to suggest potential markers to guide statin therapy. Forty-six healthy Korean subjects received atorvastatin; their whole-genome expression profiles in peripheral blood were analyzed before and after atorvastatin administration in relation with changes in lipid profiles...
February 2012: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
https://www.readbyqxmd.com/read/12019067/activity-of-the-ketolide-telithromycin-is-refractory-to-erm-monomethylation-of-bacterial-rrna
#4
Mingfu Liu, Stephen Douthwaite
Methylation of specific nucleotides in rRNA is one of the means by which bacteria achieve resistance to macrolides-lincosamides-streptogramin B (MLS(B)) and ketolide antibiotics. The degree of resistance is determined by how effectively the rRNA is methylated. We have implemented a bacterial system in which the rRNA methylations are defined, and in this study we investigate what effect Erm mono- and dimethylation of the rRNA has on the activity of representative MLS(B) and ketolide antibiotics. In the test system, >80% of the rRNA molecules are monomethylated by ErmN (TlrD) or dimethylated by ErmE...
June 2002: Antimicrobial Agents and Chemotherapy
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