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  1. Enzyme-mediated disulfide bond formation is a highly conserved process affecting over one-third of all eukaryotic proteins. The enzymes primarily responsible for facilitating thiol-disulfide exchange are membe...

    Authors: James J Galligan and Dennis R Petersen
    Citation: Human Genomics 2012 6:6
  2. A genetic association study is a complicated process that involves collecting phenotypic data, generating genotypic data, analyzing associations between genotypic and phenotypic data, and interpreting genetic ...

    Authors: Joshua Xu, Reagan Kelly, Guangxu Zhou, Steven A. Turner, Don Ding, Stephen C. Harris, Huixiao Hong, Hong Fang and Weida Tong
    Citation: Human Genomics 2012 6:5
  3. The HUGO Gene Nomenclature Committee (HGNC) assigns approved gene symbols to human loci. There are currently over 33,000 approved gene symbols, the majority of which represent protein-coding genes, but we also...

    Authors: Louise C. Daugherty, Ruth L. Seal, Mathew W. Wright and Elspeth A. Bruford
    Citation: Human Genomics 2012 6:4
  4. This study was designed to determine the ancestral composition of a multi-ethnic sample collected for studies of drug addictions in New York City and Las Vegas, and to examine the reliability of self-identifie...

    Authors: Orna Levran, Olaoluwakitan Awolesi, Pei-Hong Shen, Miriam Adelson and Mary Jeanne Kreek
    Citation: Human Genomics 2012 6:2
  5. The secretoglobins (SCGBs) comprise a family of small, secreted proteins found in animals exclusively of mammalian lineage. There are 11 human SCGB genes and five pseudogenes. Interestingly, mice have 68 Scgb gen...

    Authors: Brian C Jackson, David C. Thompson, Mathew W. Wright, Monica McAndrews, Alfred Bernard, Daniel W. Nebert and Vasilis Vasiliou
    Citation: Human Genomics 2011 5:691
  6. Since 1998, the bioinformatics, systems biology, genomics and medical communities have enjoyed a synergistic relationship with the GeneCards database of human genes (

    Authors: Gil Stelzer, Irina Dalah, Tsippi Iny Stein, Yigeal Satanower, Naomi Rosen, Noam Nativ, Danit Oz-Levi, Tsviya Olender, Frida Belinky, Iris Bahir, Hagit Krug, Paul Perco, Bernd Mayer, Eugene Kolker, Marilyn Safran and Doron Lancet
    Citation: Human Genomics 2011 5:709
  7. Many primary biological databases are dedicated to providing annotation for a specific type of biological molecule such as a clone, transcript, gene or protein, but often with limited cross-references. Therefo...

    Authors: Shweta S. Chavan, John D. Shaughnessy Jr and Ricky D. Edmondson
    Citation: Human Genomics 2011 5:703
  8. 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
  9. Substantial progress has been made in human genetics and genomics research over the past ten years since the publication of the draft sequence of the human genome in 2001. Findings emanating directly from the ...

    Authors: Nasheen Naidoo, Yudi Pawitan, Richie Soong, David N. Cooper and Chee-Seng Ku
    Citation: Human Genomics 2011 5:577
  10. The genes encoding the enzymes for metabolising alcohol dehydrogenase 1B (ADH1B) and aldehyde dehydrogenase 2 (ALDH2) -- exhibit genetic polymorphism and ethnic variations. Although the ALDH2*2 variant allele has...

    Authors: Chung-Tay Yao, Chun-An Cheng, Hsu-Kun Wang, Shao-Wen Chiu, Yi-Chyan Chen, Ming-Fang Wang, Shih-Jiun Yin and Giia-Sheun Peng
    Citation: Human Genomics 2011 5:569
  11. 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
  12. Cytochrome P450 2E1 (CYP2E1) is a key enzyme involved in the metabolic activation of procarcinogens such as N-nitrosoamines and low-molecular-weight organic compounds. The main aim of this study was to determi...

    Authors: A. Syed Sameer, Saniya Nissar, Qurteeba Qadri, Shafia Alam, Shahid Mudasir Baba and Mushtaq A. Siddiqi
    Citation: Human Genomics 2011 5:530
  13. 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
  14. 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
  15. 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
  16. 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
  17. 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
  18. 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
  19. 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
  20. 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
  21. 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
  22. '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
  23. 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
  24. 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
  25. 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
  26. 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
  27. 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

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