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https://www.readbyqxmd.com/read/27909050/notch-pathway-is-activated-via-genetic-and-epigenetic-alterations-and-is-a-therapeutic-target-in-clear-cell-renal-cancer
#1
Tushar D Bhagat, Yiyu Zou, Shizeng Huang, Jihwan Park, Matthew B Palmer, Caroline Hu, Wejuan Li, Niraj Shenoy, Orsolya Giricz, Gaurav Choudhary, Yiting Yu, Yi-An Ko, Maria C Izquierdo, Ae Seo Deok Park, Nishanth Vallumsetla, Remi Laurence, Robert Lopez, Masako Suzuki, James Pullman, Justin Kaner, Benjamin Gartrell, A Ari Hakimi, John M Greally, Bharvin Patel, Karim Benhadji, Kith Pradhan, Amit Verma, Katalin Susztak
Clear cell renal cell carcinoma (CCRCC) is an incurable malignancy in advanced stages and needs newer therapeutic targets. Transcriptomic analysis of CCRCCs and matched microdissected renal tubular controls revealed overexpression of NOTCH ligands and receptors in tumor tissues. Examination of the TCGA RNA-seq dataset also revealed widespread activation of NOTCH pathway in a large cohort of CCRCC samples. Samples with NOTCH pathway activation were also clinically distinct and were associated with better overall survival...
December 1, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27808166/lpa-receptor-activity-is-basal-specific-and-coincident-with-early-pregnancy-and-involution-during-mammary-gland-postnatal-development
#2
Deanna Acosta, Susmita Bagchi, Pilib Ó Broin, Daniel Hollern, Silvia E Racedo, Bernice Morrow, Rani S Sellers, John M Greally, Aaron Golden, Eran Andrechek, Teresa Wood, Cristina Montagna
During pregnancy, luminal and basal epithelial cells of the adult mammary gland proliferate and differentiate resulting in remodeling of the adult gland. While pathways that control this process have been characterized in the gland as a whole, the contribution of specific cell subtypes, in particular the basal compartment, remains largely unknown. Basal cells provide structural and contractile support, however they also orchestrate the communication between the stroma and the luminal compartment at all developmental stages...
November 3, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27557505/a-polycomb-mediated-epigenetic-field-defect-precedes-invasive-cervical-carcinoma
#3
Neil Ari Wijetunga, Miriam Ben-Dayan, Jessica Tozour, Robert D Burk, Nicolas F Schlecht, Mark H Einstein, John M Greally
Human papillomavirus (HPV)-associated cervical carcinoma is preceded by stages of cervical intra-epithelial neoplasia (CIN) that can variably progress to malignancy. Understanding the different molecular processes involved in the progression of pre-malignant CIN is critical to the development of improved predictive and interventional capabilities. We tested the role of regulators of transcription in both the development and the progression of HPV-associated CIN, performing the most comprehensive genomic survey to date of DNA methylation in HPV-associated cervical neoplasia, testing ~2 million loci throughout the human genome in biopsies from 78 HPV+ women, identifying changes starting in early CIN and maintained through carcinogenesis...
August 19, 2016: Oncotarget
https://www.readbyqxmd.com/read/27471971/line-1-activity-in-facultative-heterochromatin-formation-during-x-chromosome-inactivation
#4
EDITORIAL
Jennifer C Chow, Constance Ciaudo, Melissa J Fazzari, Nathan Mise, Nicolas Servant, Jacob L Glass, Matthew Attreed, Philip Avner, Anton Wutz, Emmanuel Barillot, John M Greally, Olivier Voinnet, Edith Heard
No abstract text is available yet for this article.
July 28, 2016: Cell
https://www.readbyqxmd.com/read/27458904/epigenetics-cellular-memory-and-gene-regulation
#5
Steven Henikoff, John M Greally
The field described as 'epigenetics' has captured the imagination of scientists and the lay public. Advances in our understanding of chromatin and gene regulatory mechanisms have had impact on drug development, fueling excitement in the lay public about the prospects of applying this knowledge to address health issues. However, when describing these scientific advances as 'epigenetic', we encounter the problem that this term means different things to different people, starting within the scientific community and amplified in the popular press...
July 25, 2016: Current Biology: CB
https://www.readbyqxmd.com/read/27420643/mecp2-binding-cooperativity-inhibits-dna-modification-specific-recognition
#6
Sergei Khrapunov, Yisong Tao, Huiyong Cheng, Camille Padlan, Richard Harris, Aristea S Galanopoulou, John M Greally, Mark E Girvin, Michael Brenowitz
Methyl-CpG binding protein 2 (MeCP2) is a multifunctional protein that guides neuronal development through its binding to DNA, recognition of sites of methyl-CpG (mCpG) DNA modification, and interaction with other regulatory proteins. Our study explores the relationship between mCpG and hydroxymethyl-CpG (hmCpG) recognition mediated by its mCpG binding domain (MBD) and binding cooperativity mediated by its C-terminal polypeptide. Previous study of the isolated MBD of MeCP2 documented an unusual mechanism by which ion uptake is required for discrimination of mCpG and hmCpG from CpG...
August 9, 2016: Biochemistry
https://www.readbyqxmd.com/read/27401842/novel-epigenetic-changes-in-cdkn2a-are-associated-with-progression-of-cervical-intraepithelial-neoplasia
#7
N Ari Wijetunga, Thomas J Belbin, Robert D Burk, Kathleen Whitney, Maria Abadi, John M Greally, Mark H Einstein, Nicolas F Schlecht
OBJECTIVE: To conduct a comprehensive mapping of the genomic DNA methylation in CDKN2A, which codes for the p16(INK4A) and p14(ARF) proteins, and 14 of the most promising DNA methylation marker candidates previously reported to be associated with progression of low-grade cervical intraepithelial neoplasia (CIN1) to cervical cancer. METHODS: We analyzed DNA methylation in 68 HIV-seropositive and negative women with incident CIN1, CIN2, CIN3 and invasive cervical cancer, assaying 120 CpG dinucleotide sites spanning APC, CDH1, CDH13, CDKN2A, CDKN2B, DAPK1, FHIT, GSTP1, HIC1, MGMT, MLH1, RARB, RASSF1, TERT and TIMP3 using the Illumina Infinium array...
September 2016: Gynecologic Oncology
https://www.readbyqxmd.com/read/27339364/de-novo-intrachromosomal-gene-conversion-from-opn1mw-to-opn1lw-in-the-male-germline-results-in-blue-cone-monochromacy
#8
Elena Buena-Atienza, Klaus Rüther, Britta Baumann, Richard Bergholz, David Birch, Elfride De Baere, Helene Dollfus, Marie T Greally, Peter Gustavsson, Christian P Hamel, John R Heckenlively, Bart P Leroy, Astrid S Plomp, Jan Willem R Pott, Katherine Rose, Thomas Rosenberg, Zornitza Stark, Joke B G M Verheij, Richard Weleber, Ditta Zobor, Nicole Weisschuh, Susanne Kohl, Bernd Wissinger
X-linked cone dysfunction disorders such as Blue Cone Monochromacy and X-linked Cone Dystrophy are characterized by complete loss (of) or reduced L- and M- cone function due to defects in the OPN1LW/OPN1MW gene cluster. Here we investigated 24 affected males from 16 families with either a structurally intact gene cluster or at least one intact single (hybrid) gene but harbouring rare combinations of common SNPs in exon 3 in single or multiple OPN1LW and OPN1MW gene copies. We assessed twelve different OPN1LW/MW exon 3 haplotypes by semi-quantitative minigene splicing assay...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27336614/epigenome-wide-association-studies-and-the-interpretation-of-disease-omics
#9
REVIEW
Ewan Birney, George Davey Smith, John M Greally
Epigenome-wide association studies represent one means of applying genome-wide assays to identify molecular events that could be associated with human phenotypes. The epigenome is especially intriguing as a target for study, as epigenetic regulatory processes are, by definition, heritable from parent to daughter cells and are found to have transcriptional regulatory properties. As such, the epigenome is an attractive candidate for mediating long-term responses to cellular stimuli, such as environmental effects modifying disease risk...
June 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27293492/amnion-as-a-surrogate-tissue-reporter-of-the-effects-of-maternal-preeclampsia-on-the-fetus
#10
Masako Suzuki, Ryo Maekawa, Nicole E Patterson, David M Reynolds, Brent R Calder, Sandra E Reznik, Hye J Heo, Francine Hughes Einstein, John M Greally
BACKGROUND: Preeclampsia, traditionally characterized by high blood pressure and proteinuria, is a common pregnancy complication, which affects 2-8 % of all pregnancies. Although children born to women with preeclampsia have a higher risk of hypertension in later life, the mechanism of this increased risk is unknown. DNA methylation is an epigenetic modification that has been studied as a mediator of cellular memory of adverse exposures in utero. Since each cell type in the body has a unique DNA profile, cell subtype composition is a major confounding factor in studies of tissues with heterogeneous cell types...
2016: Clinical Epigenetics
https://www.readbyqxmd.com/read/27244776/pediatric-obesity-related-asthma-the-role-of-metabolic-dysregulation
#11
REVIEW
Nandini Vijayakanthi, John M Greally, Deepa Rastogi
The burden of obesity-related asthma among children, particularly among ethnic minorities, necessitates an improved understanding of the underlying disease mechanisms. Although obesity is an independent risk factor for asthma, not all obese children develop asthma. Several recent studies have elucidated mechanisms, including the role of diet, sedentary lifestyle, mechanical fat load, and adiposity-mediated inflammation that may underlie the obese asthma pathophysiology. Here, we review these recent studies and emerging scientific evidence that suggest metabolic dysregulation may play a role in pediatric obesity-related asthma...
May 2016: Pediatrics
https://www.readbyqxmd.com/read/26871472/loss-of-men1-activates-dnmt1-implicating-dna-hypermethylation-as-a-driver-of-men1-tumorigenesis
#12
Ziqiang Yuan, Carmen Sánchez Claros, Masako Suzuki, Elaine C Maggi, Justin D Kaner, Noah Kinstlinger, Jolanta Gorecka, Thomas J Quinn, Rula Geha, Amanda Corn, Jessica Pastoriza, Qiang Jing, Asha Adem, Hao Wu, Girum Alemu, Yi-Chieh Du, Deyou Zheng, John M Greally, Steven K Libutti
Multiple endocrine neoplasia type 1 (MEN1) syndrome results from mutations in the MEN1 gene and causes tumor formation via largely unknown mechanisms. Using a novel genome-wide methylation analysis, we studied tissues from MEN1-parathyroid tumors, Men1 knockout (KO) mice, and Men1 null mouse embryonic fibroblast (MEF) cell lines. We demonstrated that inactivation of menin (the protein product of MEN1) increases activity of DNA (cytosine-5)-methyltransferase 1 (DNMT1) by activating retinoblastoma-binding protein 5 (Rbbp5)...
March 15, 2016: Oncotarget
https://www.readbyqxmd.com/read/26845753/vitamin-d3-for-uncontrolled-childhood-asthma-a-pilot-study
#13
Conor P Kerley, Katrina Hutchinson, Liam Cormican, John Faul, Peter Greally, David Coghlan, Basil Elnazir
BACKGROUND: Observational and mechanistic data suggest a role for vitamin D in childhood asthma. However, subsequent interventional trials have been inconsistent. We aimed to assess the effect of 15 weeks of vitamin D3 supplementation compared with placebo (PL) in Irish children with asthma. METHODS: We conducted a double-blind, randomized, PL-controlled trial of vitamin D supplementation (2000 IU/day) in 44 urban, Caucasian children at high latitude. Assessments were completed at baseline and after 15 weeks of supplementation...
June 2016: Pediatric Allergy and Immunology
https://www.readbyqxmd.com/read/26812987/differential-dna-methylation-patterns-of-homeobox-genes-in-proximal-and-distal-colon-epithelial-cells
#14
Alan Barnicle, Cathal Seoighe, Aaron Golden, John M Greally, Laurence J Egan
Region and cell-type specific differences in the molecular make up of colon epithelial cells have been reported. Those differences may underlie the region-specific characteristics of common colon epithelial diseases such as colorectal cancer and inflammatory bowel disease. DNA methylation is a cell-type specific epigenetic mark, essential for transcriptional regulation, silencing of repetitive DNA and genomic imprinting. Little is known about any region-specific variations in methylation patterns in human colon epithelial cells...
April 2016: Physiological Genomics
https://www.readbyqxmd.com/read/26579211/rna-dna-hybrids-in-the-human-genome-have-distinctive-nucleotide-characteristics-chromatin-composition-and-transcriptional-relationships
#15
Julie Nadel, Rodoniki Athanasiadou, Christophe Lemetre, N Ari Wijetunga, Pilib Ó Broin, Hanae Sato, Zhengdong Zhang, Jeffrey Jeddeloh, Cristina Montagna, Aaron Golden, Cathal Seoighe, John M Greally
BACKGROUND: RNA:DNA hybrids represent a non-canonical nucleic acid structure that has been associated with a range of human diseases and potential transcriptional regulatory functions. Mapping of RNA:DNA hybrids in human cells reveals them to have a number of characteristics that give insights into their functions. RESULTS: We find RNA:DNA hybrids to occupy millions of base pairs in the human genome. A directional sequencing approach shows the RNA component of the RNA:DNA hybrid to be purine-rich, indicating a thermodynamic contribution to their in vivo stability...
2015: Epigenetics & Chromatin
https://www.readbyqxmd.com/read/26214305/development-of-a-targeted-multi-disorder-high-throughput-sequencing-assay-for-the-effective-identification-of-disease-causing-variants
#16
Maria Delio, Kunjan Patel, Alex Maslov, Robert W Marion, Thomas V McDonald, Evan M Cadoff, Aaron Golden, John M Greally, Jan Vijg, Bernice Morrow, Cristina Montagna
BACKGROUND: While next generation sequencing (NGS) is a useful tool for the identification of genetic variants to aid diagnosis and support therapy decision, high sequencing costs have limited its application within routine clinical care, especially in economically depressed areas. To investigate the utility of a multi-disease NGS based genetic test, we designed a custom sequencing assay targeting over thirty disease-associated areas including cardiac disorders, intellectual disabilities, hearing loss, collagenopathies, muscular dystrophy, Ashkenazi Jewish genetic disorders, and complex Mendelian disorders...
2015: PloS One
https://www.readbyqxmd.com/read/25813045/post-conversion-targeted-capture-of-modified-cytosines-in-mammalian-and-plant-genomes
#17
Qing Li, Masako Suzuki, Jennifer Wendt, Nicole Patterson, Steven R Eichten, Peter J Hermanson, Dawn Green, Jeffrey Jeddeloh, Todd Richmond, Heidi Rosenbaum, Daniel Burgess, Nathan M Springer, John M Greally
We present a capture-based approach for bisulfite-converted DNA that allows interrogation of pre-defined genomic locations, allowing quantitative and qualitative assessments of 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC) at CG dinucleotides and in non-CG contexts (CHG, CHH) in mammalian and plant genomes. We show the technique works robustly and reproducibly using as little as 500 ng of starting DNA, with results correlating well with whole genome bisulfite sequencing data, and demonstrate that human DNA can be tested in samples contaminated with microbial DNA...
July 13, 2015: Nucleic Acids Research
https://www.readbyqxmd.com/read/25806086/dna-demethylation-by-5-aza-2-deoxycytidine-is-imprinted-targeted-to-euchromatin-and-has-limited-transcriptional-consequences
#18
María-Paz Ramos, Neil Ari Wijetunga, Andrew S McLellan, Masako Suzuki, John M Greally
BACKGROUND: DNA methylation can be abnormally regulated in human disease and associated with effects on gene transcription that appear to be causally related to pathogenesis. The potential to use pharmacological agents that reverse this dysregulation is therefore an attractive possibility. To test how 5-aza-2'-deoxycytidine (5-aza-CdR) influences the genome therapeutically, we exposed non-malignant cells in culture to the agent and used genome-wide assays to assess the cellular response...
2015: Epigenetics & Chromatin
https://www.readbyqxmd.com/read/25788985/genome-wide-assays-that-identify-and-quantify-modified-cytosines-in-human-disease-studies
#19
REVIEW
Netha Ulahannan, John M Greally
The number of different assays that has been published to study DNA methylation is extensive, complemented by recently described assays that test modifications of cytosine other than the most abundant 5-methylcytosine (5mC) variant. In this review, we describe the considerations involved in choosing how to study 5mC throughout the genome, with an emphasis on the common application of testing for epigenetic dysregulation in human disease. While microarray studies of 5mC continue to be commonly used, these lack the additional qualitative information from sequencing-based approaches that is increasingly recognized to be valuable...
2015: Epigenetics & Chromatin
https://www.readbyqxmd.com/read/25687459/how-might-epigenetic-dysregulation-in-early-embryonic-life-contribute-to-autism-spectrum-disorder
#20
EDITORIAL
Esther R Berko, John M Greally
No abstract text is available yet for this article.
2015: Epigenomics
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