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BMC Medical Genomics

Functional and structural genomics

Section edited by Kun Huang

This section considers studies of change in the expression and regulation of genes and genomes conducted at a genomic scale in relation to health and disease states.

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  1. Content type: Research article

    Obsessive-Compulsive Disorder (OCD) is a common and chronic disorder in which a person has uncontrollable, reoccurring thoughts and behaviours. It is a complex genetic condition and, in case of early onset (EO...

    Authors: Edna Grünblatt, Beatrice Oneda, Arif B. Ekici, Juliane Ball, Julia Geissler, Steffen Uebe, Marcel Romanos, Anita Rauch and Susanne Walitza

    Citation: BMC Medical Genomics 2017 10:68

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  2. Content type: Research article

    Inhibition of nonsense-mediated mRNA decay (NMD) in tumor cells can suppress tumor growth through expressing new antigens whose mRNAs otherwise are degraded by NMD. Thus NMD inhibition is a promising approach ...

    Authors: Meng Wang, Peiwei Zhang, Yufei Zhu, Xiangyin Kong, Zhenguo Zhang and Landian Hu

    Citation: BMC Medical Genomics 2017 10:55

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  3. Content type: Research article

    The implantation of mechanical circulatory support devices in heart failure patients is associated with a systemic inflammatory response, potentially leading to death from multiple organ dysfunction syndrome. ...

    Authors: Nicholas Wisniewski, Galyna Bondar, Christoph Rau, Jay Chittoor, Eleanor Chang, Azadeh Esmaeili, Martin Cadeiras and Mario Deng

    Citation: BMC Medical Genomics 2017 10:52

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  4. Content type: Research article

    Reliable exon recognition is key to the splicing of pre-mRNAs into mature mRNAs. TDP-43 is an RNA-binding protein whose nuclear loss and cytoplasmic aggregation are a hallmark pathology in amyotrophic lateral ...

    Authors: Jack Humphrey, Warren Emmett, Pietro Fratta, Adrian M. Isaacs and Vincent Plagnol

    Citation: BMC Medical Genomics 2017 10:38

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  5. Content type: Research article

    Both ambulatory atrial fibrillation (AF) and post-operative AF (poAF) are associated with substantial morbidity and mortality. Analyzing the tissue-specific gene expression in the left atrium (LA) can identify...

    Authors: Martin I Sigurdsson, Louis Saddic, Mahyar Heydarpour, Tzuu-Wang Chang, Prem Shekar, Sary Aranki, Gregory S Couper, Stanton K. Shernan, Jochen D. Muehlschlegel and Simon C. Body

    Citation: BMC Medical Genomics 2017 10:25

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  6. Content type: Research article

    Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is a debilitating idiopathic disease characterized by unexplained fatigue that fails to resolve with sufficient rest. Diagnosis is based on a list of...

    Authors: Wilfred C. de Vega, Santiago Herrera, Suzanne D. Vernon and Patrick O. McGowan

    Citation: BMC Medical Genomics 2017 10:11

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  7. Content type: Research article

    Primary biliary cholangitis (PBC) and primary sclerosing cholangitis (PSC) are forms of hepatic autoimmunity, and risk for both diseases has a strong genetic component. This study aimed to define the genetic a...

    Authors: Agnieszka Paziewska, Andrzej Habior, Agnieszka Rogowska, Włodzimierz Zych, Krzysztof Goryca, Jakub Karczmarski, Michalina Dabrowska, Filip Ambrozkiewicz, Bozena Walewska-Zielecka, Marek Krawczyk, Halina Cichoz-Lach, Piotr Milkiewicz, Agnieszka Kowalik, Krzysztof Mucha, Joanna Raczynska, Joanna Musialik…

    Citation: BMC Medical Genomics 2017 10:2

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  8. Content type: Research article

    Bivalent chromatin refers to overlapping regions containing activating histone H3 Lys4 trimethylation (H3K4me3) and inactivating H3K27me3 marks. Existence of such bivalent marks on the same nucleosome has only...

    Authors: Subhojit Sen, Kirsten F. Block, Alice Pasini, Stephen B. Baylin and Hariharan Easwaran

    Citation: BMC Medical Genomics 2016 9:60

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  9. Content type: Research article

    The observation that the genetic variants identified in genome-wide association studies (GWAS) frequently lie in non-coding regions of the genome that contain cis-regulatory elements suggests that altered gene ex...

    Authors: Andréanne Morin, Tony Kwan, Bing Ge, Louis Letourneau, Maria Ban, Karolina Tandre, Maxime Caron, Johanna K. Sandling, Jonas Carlsson, Guillaume Bourque, Catherine Laprise, Alexandre Montpetit, Ann-Christine Syvanen, Lars Ronnblom, Stephen J. Sawcer, Mark G. Lathrop…

    Citation: BMC Medical Genomics 2016 9:59

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  10. Content type: Research article

    The high cost and the long time required to bring drugs into commerce is driving efforts to repurpose FDA approved drugs—to find new uses for which they weren’t intended, and to thereby reduce the overall cost...

    Authors: Hsiao-Rong Chen, David H. Sherr, Zhenjun Hu and Charles DeLisi

    Citation: BMC Medical Genomics 2016 9:51

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  11. Content type: Research article

    Non-cellular blood circulating microRNAs (plasma miRNAs) represent a promising source for the development of prognostic and diagnostic tools owing to their minimally invasive sampling, high stability, and simp...

    Authors: Sabine Ameling, Tim Kacprowski, Ravi Kumar Chilukoti, Carolin Malsch, Volkmar Liebscher, Karsten Suhre, Maik Pietzner, Nele Friedrich, Georg Homuth, Elke Hammer and Uwe Völker

    Citation: BMC Medical Genomics 2015 8:61

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  12. Content type: Research article

    Molecular stratification of bladder cancer has revealed gene signatures differentially expressed across tumor subtypes. While these signatures provide important insights into subtype biology, the transcription...

    Authors: Pontus Eriksson, Mattias Aine, Srinivas Veerla, Fredrik Liedberg, Gottfrid Sjödahl and Mattias Höglund

    Citation: BMC Medical Genomics 2015 8:25

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  13. Content type: Research article

    The effects of dose-rate and its implications on radiation biodosimetry methods are not well studied in the context of large-scale radiological scenarios. There are significant health risks to individuals expo...

    Authors: Shanaz A. Ghandhi, Lubomir B. Smilenov, Carl D. Elliston, Mashkura Chowdhury and Sally A. Amundson

    Citation: BMC Medical Genomics 2015 8:22

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  14. Content type: Research article

    Metabolic syndrome (MetS) is characterized by central obesity, insulin resistance, dysglycemia, and a pro-atherogenic plasma lipid profile. MetS creates a high risk for development of type 2 diabetes (T2DM) an...

    Authors: Tineke C. T. M. van der Pouw Kraan, Weena J. Chen, Mathijs C. M. Bunck, Daniel H. van Raalte, Nynke J. van der Zijl, Renate E. van Genugten, Liselotte van Bloemendaal, Josefien M. Baggen, Erik H. Serné, Michaela Diamant and Anton J. G. Horrevoets

    Citation: BMC Medical Genomics 2015 8:20

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  15. Content type: Research article

    Despite their singular origin, monozygotic twin pairs often display discordance for complex disorders including schizophrenia. It is a common (1%) and often familial disease with a discordance rate of ~50% in ...

    Authors: Christina A Castellani, Benjamin I Laufer, Melkaye G Melka, Eric J Diehl, Richard L O’Reilly and Shiva M Singh

    Citation: BMC Medical Genomics 2015 8:17

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  16. Content type: Research article

    Ciguatoxins (CTXs) are polyether marine neurotoxins found in multiple reef-fish species and are potent activators of voltage-gated sodium channels. It is estimated that up to 500,000 people annually experience...

    Authors: James C Ryan, Qingzhong Wu and Ritchie C Shoemaker

    Citation: BMC Medical Genomics 2015 8:15

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  17. Content type: Research article

    Statin therapy plays a pivotal role in stabilizing the plaque for unstable angina (UA) patients although its mechanism(s) remains largely unexplored. Here we aim to identify microRNAs (miRNAs) mediating the pr...

    Authors: Jingjin Li, Hong Chen, Jingyi Ren, Junxian Song, Feng Zhang, Jing Zhang, Chongyou Lee, Sufang Li, Qiang Geng, Chengfu Cao and Ning Xu

    Citation: BMC Medical Genomics 2015 8:12

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  18. Content type: Research article

    MicroRNAs (miRNAs) are small non-coding RNAs that recognize sites of complementarity of target messenger RNAs, resulting in transcriptional regulation and translational repression of target genes. In Huntingto...

    Authors: Andrew G Hoss, Adam Labadorf, Jeanne C Latourelle, Vinay K Kartha, Tiffany C Hadzi, James F Gusella, Marcy E MacDonald, Jiang-Fan Chen, Schahram Akbarian, Zhiping Weng, Jean Paul Vonsattel and Richard H Myers

    Citation: BMC Medical Genomics 2015 8:10

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  19. Content type: Research article

    Atherosclerosis severity-independent alterations in DNA methylation, a reversible and highly regulated DNA modification, have been detected in aortic atheromas, thus supporting the hypothesis that epigenetic m...

    Authors: María del Pilar Valencia-Morales, Silvio Zaina, Holger Heyn, F Javier Carmona, Nuray Varol, Sergi Sayols, Enric Condom, José Ramírez-Ruz, Antonio Gomez, Sebastian Moran, Gertrud Lund, Dalia Rodríguez-Ríos, Gladys López-González, Magda Ramírez-Nava, Carmen de la Rocha, Alejandro Sanchez-Flores…

    Citation: BMC Medical Genomics 2015 8:7

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