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  1. 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

    Content type: Primary research

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  2. 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

    Content type: Primary research

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  3. 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

    Content type: Primary research

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  4. 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

    Content type: Review

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  5. 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

    Content type: Review

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  6. 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

    Content type: Genome update

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  7. 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

    Content type: Review

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  8. 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

    Content type: Primary research

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  9. 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

    Content type: Primary research

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  10. 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

    Content type: Primary research

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  11. 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

    Content type: Primary research

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  12. 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

    Content type: Review

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  13. 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

    Content type: Review

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  14. 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

    Content type: Primary research

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  15. 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

    Content type: Primary research

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  16. 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

    Content type: Primary research

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  17. 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

    Content type: Genome update

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  18. The detection of gene - gene and gene - environment interactions associated with complex human disease or pharmacogenomic endpoints is a difficult challenge for human geneticists. Unlike rare, Mendelian diseas...

    Authors: Alison A Motsinger and Marylyn D Ritchie

    Citation: Human Genomics 2006 2:318

    Content type: Review

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  19. 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

    Content type: Review

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  20. 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

    Content type: Primary research

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  21. Although highly penetrant alleles of BRCA1 and BRCA2 have been shown to predispose to breast cancer, the majority of breast cancer cases are assumed to result from the presence of low-moderate penetrant alleles a...

    Authors: Sevtap Savas, Steffen Schmidt, Hamdi Jarjanazi and Hilmi Ozcelik

    Citation: Human Genomics 2006 2:287

    Content type: Primary research

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  22. The sequence of the human genome provides a scaffold on which numerous annotations, such the locations of genes, can be laid. Genome browsers have been created to allow the simultaneous display of multiple ann...

    Authors: Terrence S Furey

    Citation: Human Genomics 2006 2:266

    Content type: Software review

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  23. Genetic data are now widely available. There is, however, an apparent lack of concerted effort to produce software systems for statistical analysis of genetic data compared with other fields of statistics. It ...

    Authors: Jing Hua Zhao and Qihua Tan

    Citation: Human Genomics 2006 2:258

    Content type: Software review

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  24. The recent surge in mitochondrial research has been driven by the identification of mitochondria-associated diseases and the role of mitochondria in apoptosis. Both of these aspects have identified mitochondri...

    Authors: Ryan L Parr, Gabriel D Dakubo, Robert E Thayer, Keith McKenney and Mark A Birch-Machin

    Citation: Human Genomics 2006 2:252

    Content type: Review

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  25. Similar to other classical science disciplines, immunology has been embracing novel technologies and approaches giving rise to specialised sub-disciplines such as immunogenetics and, more recently, immunogenom...

    Authors: Marcos M Miretti and Stephan Beck

    Citation: Human Genomics 2006 2:244

    Content type: Review

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  26. The US Food and Drug Administration (FDA) encourages the development of new technologies such as microarrays which may improve and streamline assessments of safety and the effectiveness of medical products for...

    Authors: Živana Težak, Daya Ranamukhaarachchi, Estelle Russek-Cohen and Steven I Gutman

    Citation: Human Genomics 2006 2:236

    Content type: Perspective

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  27. The ability to infer personal genetic ancestry is being increasingly utilised in certain medical and forensic situations. Herein, the unsupervised Bayesian clustering algorithms structure, is employed to analyse ...

    Authors: Jayne E Ekins, Jacob B Ekins, Lara Layton, Luke AD Hutchison, Natalie M Myres and Scott R Woodward

    Citation: Human Genomics 2006 2:212

    Content type: Primary research

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  28. Recessively inherited phenotypes are frequent in the Palestinian population, as the result of a historical tradition of marriages within extended kindreds, particularly in isolated villages. In order to charac...

    Authors: Tom Walsh, Amal Abu Rayan, Judeh Abu Sa'ed, Hashem Shahin, Jeanne Shepshelovich, Ming K Lee, Koret Hirschberg, Mustafa Tekin, Wa'el Salhab, Karen B Avraham, Mary-Claire King and Moien Kanaan

    Citation: Human Genomics 2006 2:203

    Content type: Primary research

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  29. The current proliferation of mammalian genomes is creating a nomenclature issue caused by naming genes based on their best BLAST hit to a gene in another annotated genome. The rat genome is relying heavily on ...

    Authors: David R. Nelson

    Citation: Human Genomics 2005 2:196

    Content type: Genome update

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  30. Recombination and mutation have traditionally been regarded as independent evolutionary processes: the latter generates variation, which the former reshuffles. Recent studies, however, have suggested that alle...

    Authors: Matthew Hurles

    Citation: Human Genomics 2005 2:179

    Content type: Review

    Published on:

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