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  1. There exist four fundamentally different classes of membrane-bound transport proteins: ion channels; transporters; aquaporins; and ATP-powered pumps. ATP-binding cassette (ABC) transporters are an example of A...

    Authors: Vasilis Vasiliou, Konstandinos Vasiliou and Daniel W. Nebert
    Citation: Human Genomics 2009 3:281
  2. The past few decades have witnessed much progress in the field of pharmacogenetics. The identification of the genetic background that regulates the antidepressant response has benefited from these advances. Th...

    Authors: Antonio Drago, Diana De Ronchi and Alessandro Serretti
    Citation: Human Genomics 2009 3:257
  3. Microbial communities play vital roles in many aspects of our lives, although our understanding of microbial biogeography and community profiles remains unclear. The number of microbes or the diversity of the ...

    Authors: Melissa Doud, Erliang Zeng, Lisa Schneper, Giri Narasimhan and Kalai Mathee
    Citation: Human Genomics 2009 3:246
  4. Transcription factors are key mediators of human complex disease processes. Identifying the target genes of transcription factors will increase our understanding of the biological network leading to disease ri...

    Authors: Tianyuan Wang, Terrence S Furey, Jessica J Connelly, Shihao Ji, Sarah Nelson, Steffen Heber, Simon G Gregory and Elizabeth R Hauser
    Citation: Human Genomics 2009 3:221
  5. Pharmacogenetics enables personalised therapy based on genetic profiling and is increasingly applied in drug discovery. Medicines are developed and used together with pharmacodiagnostic tools to achieve desire...

    Authors: Alice Matimba, Jurgen Del-Favero, Christine Van Broeckhoven and Collen Masimirembwa
    Citation: Human Genomics 2009 3:169
  6. A large body of evidence suggests that the environment plays an important role in the development of obesity. The hormone-sensitive lipase (encoded by the LIPE gene) is an intracellular enzyme that mobilises fat ...

    Authors: Christophe Garenc, Marie-Claude Vohl, Claude Bouchard and Louis Pérusse
    Citation: Human Genomics 2009 3:157
  7. Carboplatin is a chemotherapeutic agent used in the management of many cancers, yet treatment is limited by resistance and toxicities. To achieve a better understanding of the genetic contribution to carboplat...

    Authors: Sunita J. Shukla, Shiwei Duan, Xiaolin Wu, Judith A. Badner, Kristen Kasza and M. Eileen Dolan
    Citation: Human Genomics 2009 3:128
  8. Alcoholism is a complex behavioural disorder. Molecular genetics studies have identified numerous candidate genes associated with alcoholism. It is crucial to verify the disease susceptibility genes by correla...

    Authors: Giia-Sheun Peng and Shih-Jiun Yin
    Citation: Human Genomics 2009 3:121
  9. Succinic semialdehyde dehydrogenase (SSADH; aldehyde dehydrogenase 5A1 [ALDH5A1]; locus 6p22) occupies a central position in central nervous system (CNS) neurotransmitter metabolism as one of two enzymes neces...

    Authors: Patrizia Malaspina, Matthew J. Picklo, C. Jakobs, O. Carter Snead and K. Michael Gibson
    Citation: Human Genomics 2009 3:106
  10. The olfactory receptor gene (OR) superfamily is the largest in the human genome. The superfamily contains 390 putatively functional genes and 465 pseudogenes arranged into 18 gene families and 300 subfamilies. Ev...

    Authors: Tsviya Olender, Doron Lancet and Daniel W. Nebert
    Citation: Human Genomics 2008 3:87
  11. Mitochondria, the powerhouse of the cell, play a critical role in several metabolic processes and apoptotic pathways. Many lines of evidence suggest that mitochondria have a central role in ageing-related neur...

    Authors: Michelangelo Mancuso, Massimiliano Filosto, Daniele Orsucci and Gabriele Siciliano
    Citation: Human Genomics 2008 3:71
  12. In genetic association studies, deviation from Hardy-Weinberg equilibrium (HWD) can be due to recent admixture or selection at a locus, but is most commonly due to genotyping errors. In addition to its utility...

    Authors: Srijan Sen and Margit Burmeister
    Citation: Human Genomics 2008 3:36
  13. Liver cystolic aldehyde dehydrogenase 1 (ALDH1A1) has been previously associated with both alcohol dependence and alcohol consumption behaviour, and has been implicated in alcohol-induced flushing and alcohol ...

    Authors: Penelope A. Lind, C. J. Peter Eriksson and Kirk C. Wilhelmsen
    Citation: Human Genomics 2008 3:24
  14. There is considerable inter-ethnic variability in the incidence of CYP2C19 genetic poor metabolisers (var/var). About 3 per cent of Caucasians are CYP2C19 var/var. By contrast, an extremely high incidence (70 per...

    Authors: Huai-Ling Hsu, Kathryn J. Woad, D. Graeme Woodfield and Nuala A. Helsby
    Citation: Human Genomics 2008 3:17
  15. Polymorphisms in drug transporter genes and/or drug-metabolising enzyme genes may contribute to inter-individual variability in rosiglitazone pharmacokinetics in humans. We sought to determine the joint effect...

    Authors: Christina L Aquilante, Lane R. Bushman, Shannon D. Knutsen, Lauren E. Burt, Lucille Capo Rome and Lisa A. Kosmiski
    Citation: Human Genomics 2008 3:7
  16. The use of genomic technologies in biogerontology has the potential to greatly enhance our understanding of human ageing. High-throughput screens for alleles correlated with survival in long-lived people have ...

    Authors: Matt Kaeberlein
    Citation: Human Genomics 2006 2:422
  17. Association studies hold great promise for the elucidation of the genetic basis of diseases. Studies based on functional single nucleotide polymorphisms (SNPs) or on linkage disequilibrium (LD) represent two m...

    Authors: Victoria EH Carlton, James S Ireland, Francisco Useche and Malek Faham
    Citation: Human Genomics 2006 2:391
  18. A variety of techniques exist to describe and depict patterns of pairwise linkage disequilibrium (LD). In the current paper, a new log-linear framework is proposed for the summarisation of local interactions a...

    Authors: A. P. Mander and A. Bansal
    Citation: Human Genomics 2006 2:376
  19. Nasopharyngeal carcinoma (NPC) is a complex disease caused by a combination of Epstein-Barr virus chronic infection, the environment and host genes in a multi-step process of carcinogenesis. The identity of ge...

    Authors: Xiu Chan Guo, Kevin Scott, Yan Liu, Michael Dean, Victor David, George W. Nelson, Randall C. Johnson, Holli H. Dilks, James Lautenberger, Bailey Kessing, Janice Martenson, Li Guan, Shan Sun, Hong Deng, Yuming Zheng, Guy de The…
    Citation: Human Genomics 2006 2:365
  20. Genes for complex disorders have proven hard to find using linkage analysis. The results rarely reach the desired level of significance and researchers often have failed to replicate positive findings. There i...

    Authors: Dimitrios Avramopoulos, Peter Zandi, Adrian Gherman, M. Daniele Fallin and Susan S. Bassett
    Citation: Human Genomics 2006 2:345
  21. The NAD(P)H:quinone acceptor oxidoreductase (NQO) gene family belongs to the flavoprotein clan and, in the human genome, consists of two genes (NQO1 and NQO2). These two genes encode cytosolic flavoenzymes that c...

    Authors: Vasilis Vasiliou, David Ross and Daniel W. Nebert
    Citation: Human Genomics 2006 2:329
  22. Recent developments in the statistical analysis of genome-wide studies are reviewed. Genome-wide analyses are becoming increasingly common in areas such as scans for disease-associated markers and gene express...

    Authors: Frank Dudbridge, Arief Gusnanto and Bobby PC Koeleman
    Citation: Human Genomics 2006 2:310
  23. Fabry disease, an X-linked recessive inborn error of glycosphingolipid catabolism, results from the deficient activity of the lysosomal exoglycohydrolase, α-galactosidase A (EC 3.2.1.22; α-Gal A). The molecula...

    Authors: Junaid Shabbeer, Makiko Yasuda, Stacy D Benson and Robert J Desnick
    Citation: Human Genomics 2006 2:297

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