Medicine and Health Sciences Commons^™

High-Resolution Physical Map For Chromosome 16q12.1-Q13, The Blau Syndrome Locus., Xiaoju Wang, Helena Kuivaniemi, Gina Bonavita, Charlene J Williams, Gerard Tromp

Charlene Williams

BACKGROUND: The Blau syndrome (MIM 186580), an autosomal dominant granulomatous disease, was previously mapped to chromosome 16p12-q21. However, inconsistent physical maps of the region and consequently an unknown order of microsatellite markers, hampered us from further refining the genetic locus for the Blau syndrome. To address this problem, we constructed our own high-resolution physical map for the Blau susceptibility region. RESULTS: We generated a high-resolution physical map that provides more than 90% coverage of a refined Blau susceptibility region. The map consists of four contigs of sequence tagged site-based bacterial artificial chromosomes with a total of 124 bacterial artificial chromosomes, …

Decoding Critical Long Non-Coding Rna In Ovarian Cancer Epithelial-To-Mesenchymal Transition., Ramkrishna Mitra, Xi Chen, Evan J. Greenawalt, Ujjwal Maulik, Wei Jiang, Zhongming Zhao, Christine M. Eischen

Department of Cancer Biology Faculty Papers

Long non-coding RNA (lncRNA) are emerging as contributors to malignancies. Little is understood about the contribution of lncRNA to epithelial-to-mesenchymal transition (EMT), which correlates with metastasis. Ovarian cancer is usually diagnosed after metastasis. Here we report an integrated analysis of >700 ovarian cancer molecular profiles, including genomic data sets, from four patient cohorts identifying lncRNA DNM3OS, MEG3, and MIAT overexpression and their reproducible gene regulation in ovarian cancer EMT. Genome-wide mapping shows 73% of MEG3-regulated EMT-linked pathway genes contain MEG3 binding sites. DNM3OS overexpression, but not MEG3 or MIAT, significantly correlates to worse overall patient survival. DNM3OS knockdown results in …

Cruciferous And Allium Vegetable Intakes Are Inversely Associated With 15‐Year Atherosclerotic Vascular Disease Deaths In Older Adult Women, Lauren Blekkenhorst, Catherine P. Bondonno, Joshua Lewis, Amanda Devine, Kun Zhu, Wai Lim, Richard Woodman, Lawrence Beilin, Richard Prince, Jonathan M. Hodgson

Research outputs 2014 to 2021

Background

Higher vegetable intake is consistently associated with lower atherosclerotic vascular disease (ASVD) events. However, the components responsible and mechanisms involved are uncertain. Nonnutritive phytochemicals may be involved. The objective of this study was to investigate the associations of total vegetable intake and types of vegetables grouped according to phytochemical constituents with ASVD mortality.

Methods and Results

The cohort consisted of 1226 Australian women aged 70 years and older without clinical ASVD or diabetes mellitus at baseline (1998). Vegetable intakes were calculated per serving (75 g/d) and were also classified into prespecified types relating to phytochemical constituents. ASVD‐related deaths were …

Body Mass Index Adjustments To Increase The Validity Of Body Fatness Assessment In Uk Black African And South Asian Children, M. T. Hudda, C. M. Nightingale, A. S. Donin, M. S. Fewtrell, D. Haroun, S. Lum, J. E. Williams, C. G. Owen, A. R. Rudnicka, J. C.K. Wells, D. G. Cook, P. H. Whincup

All Works

© 2017 Macmillan Publishers Limited, part of Springer Nature. BACKGROUND/OBJECTIVES: Body mass index (BMI) (weight per height2) is the most widely used marker of childhood obesity and total body fatness (BF). However, its validity is limited, especially in children of South Asian and Black African origins. We aimed to quantify BMI adjustments needed for UK children of Black African and South Asian origins so that adjusted BMI related to BF in the same way as for White European children. METHODS: We used data from four recent UK studies that made deuterium dilution BF measurements in UK children of White European, …

Functional Characterization Of A Multi-Cancer Risk Locus On Chr5p15.33 Reveals Regulation Of Tert By Znf148, Jun Fang, Jinping Jia, Matthew Makowski, Mai Xu, Zhaoming Wang, Tongwu Zhang, Jason W. Hoskins, Jiyeon Choi, Younghun Han, Mingfeng Zhang, Janelle Thomas, Michael Kovacs, Irene Collins, Marta Dzyadyk, Abbey Thompson, Maura O'Neill, Sudipto Das, Qi Lan, Roelof Koster, Panscan Consortium, Tricl Consortium, Genomel Consortium, Rachael S. Stolzenberg-Solomon, Peter Kraft, Brian M. Wolpin, Pascal W.T.C Jansen, Sara Olson, Katherine A. Mcglynn, Peter A. Kanetsky, Nilanjan Chatterjee, Jennifer H. Barrett, Alison M. Dunning, John C. Taylor, Julia A. Newton-Bishop, D. Timothy Bishop, Thorkell Andresson, Gloria M. Peterson, Christopher I. Amos

Dartmouth Scholarship

Genome wide association studies (GWAS) have mapped multiple independent cancer susceptibility loci to chr5p15.33. Here, we show that fine-mapping of pancreatic and testicular cancer GWAS within one of these loci (Region 2 in CLPTM1L ) focuses the signal to nine highly correlated SNPs. Of these, rs36115365-C associated with increased pancreatic and testicular but decreased lung cancer and melanoma risk, and exhibited preferred protein-binding and enhanced regulatory activity. Transcriptional gene silencing of this regulatory element repressed TERT expression in an allele-specific manner. Proteomic analysis identifies allele-preferred binding of Zinc finger protein 148 (ZNF148) to rs36115365- C, further supported by binding of …

Implementing Shared Decision Making In The Nhs: Lessons From The Magic Programme, Natalie Joseph-Williams, Amy Lloyd, Adrian Edwards, Lynne Stobbart, David Tomson, Sheila Macphail, Carole Dodd, Glyn Elwyn, Richard Thomson

Dartmouth Scholarship

No abstract provided.

Tenofovir Inhibits Wound Healing Of Epithelial Cells And Fibroblasts From The Upper And Lower Human Female Reproductive Tract, Marta Rodriguez-Garcia, Mickey V. Patel, Zheng Shen, Jack Bodwell, Richard M. Rossol, Charles R. Wira

Dartmouth Scholarship

Disruption of the epithelium in the female reproductive tract (FRT) is hypothesized to increase HIV infection risk by interfering with barrier protection and facilitating HIV-target cell recruitment. Here we determined whether Tenofovir (TFV), used vaginally in HIV prevention trials, and Tenofovir alafenamide (TAF), an improved prodrug of TFV, interfere with wound healing in the human FRT. TFV treatment of primary epithelial cells and fibroblasts from the endometrium (EM), endocervix (CX) and ectocervix (ECX) significantly delayed wound closure. Reestablishment of tight junctions was compromised in EM and CX epithelial cells even after wound closure occurred. In contrast, TAF had no inhibitory …

Obese Children With Metabolic Syndrome Have 3 Times Higher Risk To Have Nonalcoholic Fatty Liver Disease Compared With Those Without Metabolic Syndrome, Dimitrios Papandreou, Mirey Karavetian, Zacharoula Karabouta, Eleni Andreou

All Works

Copyright © 2017 Dimitrios Papandreou et al. Background: The aim of this study was to investigate the relationship between metabolic syndrome (MS) and nonalcoholic fatty liver disease (NAFLD) in obese children. One hundred and twenty-five subjects aged 11-12 years old participated in the study. Methods: Anthropometric and biochemical indices were measured, including lipid and liver profile, blood glucose, serum insulin, and liver ultrasound. Results: Forty-four children (58.6%) were found to have MS. Insulin resistance was present in 78 (62.4%) children. Patients with MS were more likely to have NAFLD (P <; 0.001). Children with NAFLD had significantly higher body mass index, waist circumference, triglycerides, fasting insulin, and lower high-density lipoprotein compared to patients with normal livers (P < 0.001). Insulin resistance was significantly higher in children with NAFLD (P <; 0.001). Obese children presenting with MS were 3.01 (2.87-3.57, P < 0.002) times more likely to develop NAFLD compared to those without metabolic syndrome after adjustment of cofounders. Conclusions: Obese children with MS have a higher risk of developing NAFLD. Weight management and early prevention should be the first line of treatment to prevent any possible health issues later on.