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  1. Somatic gene mutations constitute key events in the malignant transformation of human cells. Somatic mutation can either actively speed up the growth of tumour cells or relax the growth constraints normally im...

    Authors: Sebastian Laycock-van Spyk, Nick Thomas, David N. Cooper and Meena Upadhyaya
    Citation: Human Genomics 2011 5:623
  2. Vitamin D has been shown to have anti-angiogenic properties and to play a protective role in several types of cancer, including breast, prostate and cutaneous melanoma. Similarly, vitamin D levels have been sh...

    Authors: Margaux A. Morrison, Alexandra C. Silveira, Nancy Huynh, Gyungah Jun, Silvia E. Smith, Fani Zacharaki, Hajime Sato, Stephanie Loomis, Michael T. Andreoli, Scott M. Adams, Monte J. Radeke, Austin S. Jelcick, Yang Yuan, Aristoteles N. Tsiloulis, Dimitrios Z Chatzoulis, Giuliana Silvestri…
    Citation: Human Genomics 2011 5:538
  3. e-PKGene (http://​www.​pharmacogenetics​info.​org) is a manually curated knowledge product developed in the Department of Pharmaceutics at the University of Wash...

    Authors: Houda Hachad, Casey Lynnette Overby, Sophie Argon, Catherine K Yeung, Isabelle Ragueneau-Majlessi and René H Levy
    Citation: Human Genomics 2011 5:506
  4. Progress in functional genomics and structural studies on biological macromolecules are generating a growing number of potential targets for therapeutics, adding to the importance of computational approaches f...

    Authors: Jacek Biesiada, Aleksey Porollo, Prakash Velayutham, Michal Kouril and Jaroslaw Meller
    Citation: Human Genomics 2011 5:497
  5. The sirtuin family of proteins is categorised as class III histone deacetylases that play complex and important roles in ageing-related pathological conditions such as cancer and the deregulation of metabolism...

    Authors: Athanassios Vassilopoulos, Kristofer S Fritz, Dennis R Petersen and David Gius
    Citation: Human Genomics 2011 5:485
  6. The recent publication of the draft genome sequences of the Neanderthal and a ~50,000-year-old archaic hominin from Denisova Cave in southern Siberia has ushered in a new age in molecular archaeology. We previ...

    Authors: Guojie Zhang, Zhang Pei, Edward V Ball, Matthew Mort, Hildegard Kehrer-Sawatzki and David N Cooper
    Citation: Human Genomics 2011 5:453
  7. The development and progression of colorectal cancer (CRC) is a multi-step process, and the Wnt pathways with its two molecular gladiators adenomatous polyposis coli (APC) and β-catenin plays an important role in...

    Authors: A Syed Sameer, Zaffar A Shah, Safiya Abdullah, Nissar A Chowdri and Mushtaq A Siddiqi
    Citation: Human Genomics 2011 5:441
  8. Predictive tests for estimating the risk of developing late-stage neovascular age-related macular degeneration (AMD) are subject to unique challenges. AMD prevalence increases with age, clinical phenotypes are...

    Authors: Gregory S Hageman, Karen Gehrs, Serguei Lejnine, Aruna T Bansal, Margaret M DeAngelis, Robyn H Guymer, Paul N Baird, Rando Allikmets, Cosmin Deciu, Paul Oeth and Lorah T Perlee
    Citation: Human Genomics 2011 5:420
  9. The focus of this review is software for the genotyping of microarray single nucleotide polymorphisms, in particular software for Affymetrix and Illumina arrays. Different statistical principles and ideas have...

    Authors: Philippe Lamy, Jakob Grove and Carsten Wiuf
    Citation: Human Genomics 2011 5:304
  10. Members of the aldehyde dehydrogenase gene (ALDH) superfamily play an important role in the enzymic detoxification of endogenous and exogenous aldehydes and in the formation of molecules that are important in cel...

    Authors: Brian Jackson, Chad Brocker, David C Thompson, William Black, Konstandinos Vasiliou, Daniel W Nebert and Vasilis Vasiliou
    Citation: Human Genomics 2011 5:283
  11. Our knowledge of pharmacogenetic variability in diverse populations is scarce, especially in sub-Saharan Africa. To bridge this gap in knowledge, we characterised population frequencies of clinically relevant ...

    Authors: Ogechi Ikediobi, Bradley Aouizerat, Yuanyuan Xiao, Monica Gandhi, Stefan Gebhardt and Louise Warnich
    Citation: Human Genomics 2011 5:265
  12. 'Nonstop' mutations are single base-pair substitutions that occur within translational termination (stop) codons and which can lead to the continued and inappropriate translation of the mRNA into the 3'-untran...

    Authors: Stephen E Hamby, Nick ST Thomas, David N Cooper and Nadia Chuzhanova
    Citation: Human Genomics 2011 5:241
  13. Recent advances in high-throughput sequencing have facilitated the genome-wide studies of small non-coding RNAs (sRNAs). Numerous studies have highlighted the role of various classes of sRNAs at different leve...

    Authors: Eneritz Agirre and Eduardo Eyras
    Citation: Human Genomics 2011 5:192
  14. DNA mutation data currently reside in many online databases, which differ markedly in the terminology used to describe or define the mutation and also in completeness of content, potentially making it difficul...

    Authors: Elizabeth A Webb, Timothy D Smith and Richard GH Cotton
    Citation: Human Genomics 2011 5:141
  15. The Rat Genome Database (RGD) (http://​rgd.​mcw.​edu) provides a comprehensive platform for comparative genomics and genetics research. RGD houses gene, QTL and...

    Authors: Mary Shimoyama, Jennifer R. Smith, Tom Hayman, Stan Laulederkind, Tim Lowry, Rajni Nigam, Victoria Petri, Shur-Jen Wang, Melinda Dwinell and Howard Jacob
    Citation: Human Genomics 2011 5:124
  16. Chromatin immunoprecipitation followed by massively parallel next-generation sequencing (ChIP-seq) is a valuable experimental strategy for assaying protein-DNA interaction over the whole genome. Many computati...

    Authors: Hyunmin Kim, Jihye Kim, Heather Selby, Dexiang Gao, Tiejun Tong, Tzu Lip Phang and Aik Choon Tan
    Citation: Human Genomics 2011 5:117
  17. Type 2 diabetes represents an increasing health burden. Its prevalence is rising among younger age groups and differs among racial/ethnic groups. Little is known about its genetic basis, including whether ther...

    Authors: Yann C. Klimentidis, Jasmin Divers, Krista Casazza, T. Mark Beasley, David B. Allison and Jose R. Fernandez
    Citation: Human Genomics 2011 5:79
  18. High-throughput RNA sequencing is rapidly emerging as a favourite method for gene expression studies. We review three software packages -- edgeR, DEGseq and baySeq -- from Bioconductor

    Authors: Dexiang Gao, Jihye Kim, Hyunmin Kim, Tzu L Phang, Heather Selby, Aik Choon Tan and Tiejun Tong
    Citation: Human Genomics 2010 5:56
  19. Cytokines play a very important role in nearly all aspects of inflammation and immunity. The term 'interleukin' (IL) has been used to describe a group of cytokines with complex immunomodulatory functions -- in...

    Authors: Chad Brocker, David Thompson, Akiko Matsumoto, Daniel W Nebert and Vasilis Vasiliou
    Citation: Human Genomics 2010 5:30
  20. Breast cancer tumours among African Americans are usually more aggressive than those found in Caucasian populations. African-American patients with breast cancer also have higher mortality rates than Caucasian...

    Authors: Herbert Pang, Keita Ebisu, Emi Watanabe, Laura Y Sue and Tiejun Tong
    Citation: Human Genomics 2010 5:5
  21. Consanguineous families affected with a recessive genetic disease caused by homozygotisation of a mutation offer a unique advantage for positional cloning of rare diseases. Homozygosity mapping of patient geno...

    Authors: El-Ad David Amir, Ofer Bartal, Efrat Morad, Tal Nagar, Jony Sheynin, Ruti Parvari and Vered Chalifa-Caspi
    Citation: Human Genomics 2010 4:394
  22. Copy number variants (CNVs) create a major source of variation among individuals and populations. Array-based comparative genomic hybridisation (aCGH) is a powerful method used to detect and compare the copy n...

    Authors: Anis Karimpour-Fard, Laura Dumas, Tzulip Phang, James M Sikela and Lawrence E Hunter
    Citation: Human Genomics 2010 4:421
  23. The acyl-CoA thioesterase gene (ACOT) family encodes enzymes that catalyse the hydrolysis of acyl-CoA thioester compounds, also known as activated fatty acids, to their corresponding non-esterified (free) fatty a...

    Authors: Chad Brocker, Christopher Carpenter, Daniel W Nebert and Vasilis Vasiliou
    Citation: Human Genomics 2010 4:411
  24. The cytosine-guanine (CpG) dinucleotide has long been known to be a hotspot for pathological mutation in the human genome. This hypermutability is related to its role as the major site of cytosine methylation ...

    Authors: David N Cooper, Matthew Mort, Peter D Stenson, Edward V Ball and Nadia A Chuzhanova
    Citation: Human Genomics 2010 4:406
  25. The cytochrome P450 enzymes active in drug metabolism are highly polymorphic. Most allelic variants have been described for enzymes encoded by the cytochrome P450 family 2 (CYP2) gene family, which has 252 dif...

    Authors: Magnus Ingelman-Sundberg and Sarah C Sim
    Citation: Human Genomics 2010 4:402
  26. Polymorphisms in the endothelial nitric oxide synthase (eNOS) gene (-786T >C and 894G >T) enhance endo-thelial dysfunction and have been studied in relation to coronary artery disease (CAD). In the present study,...

    Authors: Georgia Ragia, Eleftherios Nikolaidis, Anna Tavridou, Kostas I Arvanitidis, Stavroula Kanoni, George V Dedoussis, George Bougioukas and Vangelis G Manolopoulos
    Citation: Human Genomics 2010 4:375

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