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Integrative ‘Omic’ Approach Towards Understanding the Nature of Human Diseases

ABSTRACT

The combination of improving technologies for molecular interrogation of global molecular alterations in human diseases along with increases in computational capacity, have enabled unprecedented insight into disease etiology, pathogenesis and have enabled new possibilities for biomarker development. A large body of data has accumulated over recent years, with a most prominent increase in information originating from genomic, transcriptomic and proteomic profiling levels. However, the complexity of the data made discovery of highorder disease mechanisms involving various biological layers, difficult, and therefore required new approaches toward integration of such data into a complete representation of molecular events occurring on cellular level. For this reason, we developed a new mode of integration of results coming from heterogeneous origins, using rank statistics of results from each profiling level. Due to the increased use of nextgeneration sequencing technology, experimental information is becoming increasingly more associated to sequence information, for which reason we have decided to synthesize the heterogeneous results using the information of their genomic position. We therefore propose a novel positional integratomic approach toward studying ‘omic’ information in human disease.

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Achondrogenesis type 2 in a newborn with a novel mutation on the COL2A1 gene

). The raw reads were aligned to the human reference genome (GRCh37/ hgl9). Variant filtering and interpretations were performed on the Sophia DDM™ platform (Sophia Genetics SA), and an Integrative Genomics Viewer (IGV) was used to visualize the BAM (binary alignment map) files [ 5 ]. In families with consanguineous marriages, homozygosity mapping is carried out with HomSI ( www.igbam.bilgem.tubitak gov.tr/softwares/ HomSI) [ 6 ]. Next generation sequencing (NGS) showed a heterozygous missense variation, c.2546G>A, p.Gly849Asp on the COL2A1 gene that was confirmed

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A feasibility study on the association between residential greenness and neurocognitive function in middle-aged Bulgarians

: Towards an integrative framework. J Environ Psychol 1995;15:169–82. doi: 10.1016/0272-4944(95)90001-2 10. Kaplan R, Kaplan S. The Experience of Nature: Y Psychological Perspective. New York: Cambridge University Press; 1989. 11. Norwood MF, Lakhani A, Maujean A, Zeeman H, Creux O, Kendall E. Brain activity, underlying mood and the environment: A systematic review. J Environ Psychol 2019;65:101321. doi: 10.1016/j.jenvp.2019.101321 12. Browning MHEM, Olvera Alvarez HA. Editorial commentary: Scanning for threats and natural environments giving our

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Molecular Pathogenesis of Hepatocellular Carcinoma

Molecular Pathogenesis of Hepatocellular Carcinoma

The most important risk factors for the development of human hepatocellular carcinoma (HCC) are chronic infection with hepatitis B virus (HBV) and/or hepatitis C virus (HCV), high dietary exposure to hepatic carcinogen aflatoxin B1 and alcohol abuse. Hepatitis B virus exerts its effects through integration of the viral DNA into the hepatocyte genome, or through acting as transcriptional regulator for several cellular proto-oncogenes and tumor-suppressor genes. Hepatitis C virus may affect hepatocytes via the transcriptional regulation activity of the HCV core protein or via the HCV non structural proteins NS5A, NS5B and NS2, interfering with the regulation of cell cycle and apoptosis. Environmental exposure to aflatoxin B1 can cause a specific missense mutation in codon 249 of the p53 tumor-suppressor gene. Habitual alcohol consumption leads to production of reactive oxygen species and peroxidation damage to DNA. The objective of this review is to make you acquainted with the most common risk factors and the most frequent genetic aberrations associated with the development of HCC.

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A Preliminary microRNA Analysis of non Syndromic Thoracic Aortic Aneurysms

. Orshal JM, Khalil RA. Gender, sex hormones, and vascular tone. (Review) Am J Physiol Regul Integr Comp Physiol. 2004; 286(2): R233-R249. 11. Fleige S, Pfaffl MW. RNA integrity and the effect on the real-time qRT-PCR performance. (Review) Mol Aspects Med. 2006; 27(2-3): 126-139. 12. Papadopoulos GL, Alexiou P, Maragkakis M, Reczko M, Hatzigeorgiou AG. DIANA-mirPath: Integrating human and mouse microRNAs in pathways. Bioinformatics. 2009; 25(15): 1991-1993. 13. Kanehisa M, Araki M, Goto S, et al. KEGG for linking genomes

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21st Century era of anatomy

–25, 2018, Cha-am, Petchaburi, Thailand. We hope this special series of anatomy themed issues of Asian Biomedicine , will assist anatomists and scientists in other fields to gain more experience to adapt and integrate into all biomedical research paradigms. We expect this series will be of worthiness to all readers, and that its information can be applied and implemented to improve clinical practice. Finally, we extend our appreciation to all authors and researchers who dedicated their time to the compilation of this work. The August 2018 issue of Asian Biomedicine is

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21st Century era of anatomy

–25, 2018, Cha-am, Petchaburi, Thailand. This special series of anatomy themed issues of Asian Biomedicine , we hope will assist anatomists and scientists in other fields to gain more experience to adapt and integrate into all biomedical research paradigms. We also expect this series will be of worthiness to all readers, and that its information can be applied and implemented to improve clinical practice. Finally, we would like to extend our appreciation to all authors and researchers who dedicated their time to the compilation of this work. The June 2018 issue of Asian

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Exploring Candidate Genes for Epilepsy by Computational Disease-Gene Identification Strategy

epilepsy. Epilepsy Res. 2008; 81(2-3): 220-224. Salzmann A, Perroud N, Crespel A, Lambercy C, Malafosse A. Candidate genes for temporal lobe epilepsy: a replication study. Neurol Sci. 2008; 29(6): 397-403. Thornblad TA, Elliott KS, Jowett J, Visscher PM. Prioritization of positional candidate genes using multiple web-based software tools. Twin Res Hum Genet. 2007; 10(6): 861-870. van Driel MA, Cuelenaere K, Kemmeren PP, Leunissen JA, Brunner HG, Vriend G. GeneSeeker: extraction and integration

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Acute toxicity of maneb in the tadpoles of common and green toad / Akutna toksičnost maneba u punoglavaca smeđe i zelene krastače

-349. doi: 10.1007/s00128-005-0759-z 20. Nunes AL, Orizaola G, Laurila A, Rebelo R. Morphological and life-history responses of anurans to predation by an invasive crayfish: an integrative approach. Ecol Evol 2014; 4: 1491-1503. doi: 10.1002/ece3.979

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Salience and conflict of work and family roles among employed men and women

. Human Relat 1998;51:157-77. doi: 10.1177/001872679805100203 10. Rupert PA, Stevanovic P, Hartman ERT, Bryant FB, Miller A. Predicting work-family conflict and life satisfaction among professional psychologists. Prof Psychol Res Pr 2012;43:341-8. doi: 10.1037/a0026675 11. Frone MR, Russell M, Cooper ML. Antecedents and outcomes of work-life conflicts: testing a model of work-family interface. J Appl Psychol 1992;77:65-75. doi: 10.1037/0021-9010.77.1.65 12. Frone MR, Yardley JK, Markel KS. Developing and testing an integrative model of the work

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