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  1. Despite multiple studies demonstrating the importance of the anti-apoptotic proteinMcl-1 in tumor cell survival and treatment resistance, a clinically importantinhibitor has yet to be developed. A recent study...

    Authors: Lukas W Pfannenstiel, Abeba Demelash and Brian R Gastman
    Citation: Genome Medicine 2012 4:53
    Content type: Research highlight Published on:

  2. Antidepressants are among the most commonly prescribed drugs, and a range of medications are available. However, treatment response to a particular drug varies greatly between patients, with only 30% of patien...

    Authors: Karen Hodgson, Shaista Jeelani Mufti, Rudolf Uher and Peter McGuffin
    Citation: Genome Medicine 2012 4:52
    Content type: Review Published on:

  5. Drug-induced liver injury (DILI) is one of the most common adverse reactions leading to product withdrawal post-marketing. Recently, genome-wide association studies have identified a number of human leukocyte ...

    Authors: Ana Alfirevic, Faviel Gonzalez-Galarza, Catherine Bell, Klara Martinsson, Vivien Platt, Giovanna Bretland, Jane Evely, Maike Lichtenfels, Karin Cederbrant, Neil French, Dean Naisbitt, B Kevin Park, Andrew R Jones and Munir Pirmohamed
    Citation: Genome Medicine 2012 4:51
    Content type: Research Published on:

  7. Accurate interpretation of gene testing is a key component in customizing patient therapy. Where confirming evidence for a gene variant is lacking, computational prediction may be employed. A standardized fram...

    Authors: David K Crockett, Perry G Ridge, Andrew R Wilson, Elaine Lyon, Marc S Williams, Scott P Narus, Julio C Facelli and Joyce A Mitchell
    Citation: Genome Medicine 2012 4:48
    Content type: Method Published on:

  8. In addition to mutations, epigenetic silencing of genes has been recognized as a fundamental mechanism that promotes human carcinogenesis. To date, characterization of epigenetic gene silencing has largely foc...

    Authors: Dheepa Balasubramanian, Batool Akhtar-Zaidi, Lingyun Song, Cynthia F Bartels, Martina Veigl, Lydia Beard, Lois Myeroff, Kishore Guda, James Lutterbaugh, Joseph Willis, Gregory E Crawford, Sanford D Markowitz and Peter C Scacheri
    Citation: Genome Medicine 2012 4:47
    Content type: Research Published on:

  10. Regulatory elements play an important role in the variability of individual responses to drug treatment. This has been established through studies on three classes of elements that regulate RNA and protein abu...

    Authors: Robin P Smith, Ernest T Lam, Svetlana Markova, Sook Wah Yee and Nadav Ahituv
    Citation: Genome Medicine 2012 4:45
    Content type: Review Published on:

  13. Presently, colorectal cancer (CRC) is staged preoperatively by radiographic tests, and postoperatively by pathological evaluation of available surgical specimens. However, present staging methods do not accura...

    Authors: Farshad Farshidfar, Aalim M Weljie, Karen Kopciuk, W Don Buie, Anthony MacLean, Elijah Dixon, Francis R Sutherland, Andrea Molckovsky, Hans J Vogel and Oliver F Bathe
    Citation: Genome Medicine 2012 4:42
    Content type: Research Published on:

  14. Altered networks of gene regulation underlie many complex conditions, including cancer. Inferring gene regulatory networks from high-throughput microarray expression data is a fundamental but challenging task ...

    Authors: Piyush B Madhamshettiwar, Stefan R Maetschke, Melissa J Davis, Antonio Reverter and Mark A Ragan
    Citation: Genome Medicine 2012 4:41
    Content type: Research Published on:

  15. The number of metabolites identified in human cerebrospinal fluid (CSF) has steadily increased over the past 5 years, and in this issue of Genome Medicine David Wishart and colleagues provide a comprehensive upda...

    Authors: Emanuel Schwarz, E Fuller Torrey, Paul C Guest and Sabine Bahn
    Citation: Genome Medicine 2012 4:39
    Content type: Research highlight Published on:

  16. Human cerebral spinal fluid (CSF) is known to be a rich source of small molecule biomarkers for neurological and neurodegenerative diseases. In 2007, we conducted a comprehensive metabolomic study and performe...

    Authors: Rupasri Mandal, An Chi Guo, Kruti K Chaudhary, Philip Liu, Faizath S Yallou, Edison Dong, Farid Aziat and David S Wishart
    Citation: Genome Medicine 2012 4:38
    Content type: Research Published on:

  17. Breast cancer is the most common cancer in women worldwide, and the development of new technologies for better understanding of the molecular changes involved in breast cancer progression is essential. Metabol...

    Authors: Carsten Denkert, Elmar Bucher, Mika Hilvo, Reza Salek, Matej Orešič, Julian Griffin, Scarlet Brockmöller, Frederick Klauschen, Sibylle Loibl, Dinesh Kumar Barupal, Jan Budczies, Kristiina Iljin, Valentina Nekljudova and Oliver Fiehn
    Citation: Genome Medicine 2012 4:37
    Content type: Review Published on:

  19. The prevalence, and associated healthcare burden, of diabetes mellitus is increasing worldwide. Mortality and morbidity are associated with diabetic complications in multiple organs and tissues, including the ...

    Authors: Marta Ugarte, Marie Brown, Katherine A Hollywood, Garth J Cooper, Paul N Bishop and Warwick B Dunn
    Citation: Genome Medicine 2012 4:35
    Content type: Research Published on:

  20. Genome-wide association studies (GWAS) analyze the genetic component of a phenotype or the etiology of a disease. Despite the success of many GWAS, little progress has been made in uncovering the underlying me...

    Authors: Jerzy Adamski
    Citation: Genome Medicine 2012 4:34
    Content type: Review Published on:

  21. Metabolomics, the non-targeted interrogation of small molecules in a biological sample, is an ideal technology for identifying diagnostic biomarkers. Current tissue extraction protocols involve sample destruct...

    Authors: Meredith V Brown, Jonathan E McDunn, Philip R Gunst, Elizabeth M Smith, Michael V Milburn, Dean A Troyer and Kay A Lawton
    Citation: Genome Medicine 2012 4:33
    Content type: Research Published on:

  22. The peroxisome proliferator-activated receptors (PPARs) are a set of three nuclear hormone receptors that together play a key role in regulating metabolism, particularly the switch between the fed and fasted s...

    Authors: Zsuzsanna Ament, Mojgan Masoodi and Julian L Griffin
    Citation: Genome Medicine 2012 4:32
    Content type: Review Published on:

  24. Increasingly sophisticated measurement technologies have allowed the fields of metabolomics and genomics to identify, in parallel, risk factors of disease; predict drug metabolism; and study metabolic and gene...

    Authors: Steven L Robinette, Elaine Holmes, Jeremy K Nicholson and Marc E Dumas
    Citation: Genome Medicine 2012 4:30
    Content type: Review Published on:

  26. Human diseases can be caused by complex mechanisms involving aberrations in numerous proteins and pathways. With recent advances in genomics, elucidating the molecular basis of disease on a personalized level ...

    Authors: Yvonne Y Li and Steven JM Jones
    Citation: Genome Medicine 2012 4:27
    Content type: Review Published on:

  29. A recent report by the World Health Organization calls for implementation of community genetics programs in low- and middle-income countries (LMICs). Their focus is prevention of congenital disorders and genet...

    Authors: Stephen F Kingsmore, John D Lantos, Darrell L Dinwiddie, Neil A Miller, Sarah E Soden, Emily G Farrow and Carol J Saunders
    Citation: Genome Medicine 2012 4:25
    Content type: Opinion Published on:

  31. Recently, it has been proposed that epigenetic variation may contribute to the risk of complex genetic diseases like cancer. We aimed to demonstrate that epigenetic changes in normal cells, collected years in ...

    Authors: Andrew E Teschendorff, Allison Jones, Heidi Fiegl, Alexandra Sargent, Joanna J Zhuang, Henry C Kitchener and Martin Widschwendter
    Citation: Genome Medicine 2012 4:24
    Content type: Research Published on:

  33. There is a need for methods that are able to identify rare variants that cause low or moderate penetrance disease susceptibility. To answer this need, we introduce a rule-based haplotype comparison method, Hap...

    Authors: Sirkku Karinen, Silva Saarinen, Rainer Lehtonen, Pasi Rastas, Pia Vahteristo, Lauri A Aaltonen and Sampsa Hautaniemi
    Citation: Genome Medicine 2012 4:21
    Content type: Method Published on:

  38. Age-related macular degeneration (AMD) is a leading cause of blindness that affects the central region of the retinal pigmented epithelium (RPE), choroid, and neural retina. Initially characterized by an accum...

    Authors: Aaron M Newman, Natasha B Gallo, Lisa S Hancox, Norma J Miller, Carolyn M Radeke, Michelle A Maloney, James B Cooper, Gregory S Hageman, Don H Anderson, Lincoln V Johnson and Monte J Radeke
    Citation: Genome Medicine 2012 4:16
    Content type: Research Published on:

  40. Genetic variation in the protein tyrosine phosphatase non-receptor type gene 22 (PTPN22, encoding lymphoid tyrosine phosphatase, LYP) influences the risk of developing multiple autoimmune diseases, but the underl...

    Authors: Lina-Marcela Diaz-Gallo and Javier Martin
    Citation: Genome Medicine 2012 4:13
    Content type: Research highlight Published on:

  41. Perhaps as much as two-thirds of the mammalian genome is composed of mobile genetic elements ('jumping genes'), a fraction of which is still active or can be reactivated. By their sheer number and mobility, re...

    Authors: Szilvia Solyom and Haig H Kazazian Jr
    Citation: Genome Medicine 2012 4:12
    Content type: Review Published on:

  42. Cigarette smoking is well-known to associate with accelerated skin aging as well as cardiovascular disease and lung cancer, in large part due to oxidative stress. Because metabolites are downstream of genetic ...

    Authors: Robert C Spitale, Michelle Y Cheng, Kimberly A Chun, Emily S Gorell, Claudia A Munoz, Dale G Kern, Steve M Wood, Helen E Knaggs, Jacob Wulff, Kirk D Beebe and Anne Lynn S Chang
    Citation: Genome Medicine 2012 4:14
    Content type: Research Published on:

  44. Epigenetic alterations, such as aberrant DNA methylation, are a hallmark of cancer. DNA hypermethylation of the promoter region affects, for example, the expression of tumor suppressor genes and is associated ...

    Authors: Oliver Zolk and Martin F Fromm
    Citation: Genome Medicine 2012 4:10
    Content type: Research highlight Published on:
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Genome Medicine

ISSN: 1756-994X

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