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  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. The R620W variant in protein tyrosine phosphatase non-receptor 22 (PTPN22) is associated with rheumatoid arthritis (RA). The PTPN22 gene has alternatively spliced transcripts and at least two of the splice forms ...

    Authors: Marcus Ronninger, Yongjing Guo, Klementy Shchetynsky, Andrew Hill, Mohsen Khademi, Tomas Olsson, Padmalatha S Reddy, Maria Seddighzadeh, James D Clark, Lih-Ling Lin, Margot O'Toole and Leonid Padyukov
    Citation: Genome Medicine 2012 4:2
  7. Several theories have been proposed to conceptualize the pathological processes inherent to schizophrenia. The 'prostaglandin deficiency' hypothesis postulates that defective enzyme systems converting essentia...

    Authors: Matej Orešič, Tuulikki Seppänen-Laakso, Daqiang Sun, Jing Tang, Sebastian Therman, Rachael Viehman, Ulla Mustonen, Theo G van Erp, Tuulia Hyötyläinen, Paul Thompson, Arthur W Toga, Matti O Huttunen, Jaana Suvisaari, Jaakko Kaprio, Jouko Lönnqvist and Tyrone D Cannon
    Citation: Genome Medicine 2012 4:1
  8. Targeted therapy with tyrosine kinase inhibitors has led to a substantial improvement in the standard of care for patients with advanced or metastatic clear cell renal cell carcinoma. Because the mechanism of ...

    Authors: Ram N Ganapathi and Ronald M Bukowski
    Citation: Genome Medicine 2011 3:79
  9. Fragile X syndrome is the most common cause of inherited intellectual disability, but the underlying pathophysiology is complex and effective treatments are lacking. In a recent study of fragile X mental retardat...

    Authors: Inge Heulens, Sien Braat and R Frank Kooy
    Citation: Genome Medicine 2011 3:80
  10. Organic cation transporters (OCTs) determine not only physiological processes but are also involved in the cellular uptake of anticancer agents. Based on microarray analyses in hepatocellular carcinoma (HCC), SLC...

    Authors: Elke Schaeffeler, Claus Hellerbrand, Anne T Nies, Stefan Winter, Stephan Kruck, Ute Hofmann, Heiko van der Kuip, Ulrich M Zanger, Hermann Koepsell and Matthias Schwab
    Citation: Genome Medicine 2011 3:82
  11. Glioblastoma multiforme (GBM) is the most common, aggressive and malignant primary tumor of the brain and is associated with one of the worst 5-year survival rates among all human cancers. Identification of mo...

    Authors: Rotem Ben-Hamo and Sol Efroni
    Citation: Genome Medicine 2011 3:77

    The Erratum to this article has been published in Genome Medicine 2012 4:87

  12. MicroRNAs are post-transcriptional regulators that are involved in many physiological and pathophysiological conditions. A recent study compared the expression profiles of hundreds of blood-borne microRNAs acr...

    Authors: Nathalie Schöler, Christian Langer and Florian Kuchenbauer
    Citation: Genome Medicine 2011 3:72
  13. Initial high-throughput RNA sequencing (RNA-Seq) experiments have revealed a complex and dynamic transcriptome, but because it samples transcripts in proportion to their abundances, assessing the extent and na...

    Authors: Adam Roberts and Lior Pachter
    Citation: Genome Medicine 2011 3:74
  14. A report on the Cold Spring Harbor Laboratory meeting on 'Personal Genomes', Cold Spring Harbor, New York, USA, 30 September to 2 October, 2011.

    Authors: Melissa Gymrek and Yaniv Erlich
    Citation: Genome Medicine 2011 3:73
  15. A report on the Wellcome Trust Scientific Conference 'Epigenomics of Common Diseases', Hinxton, Cambridge, UK, September 13-16, 2011.

    Authors: Kate Revill and Benjamin Tycko
    Citation: Genome Medicine 2011 3:71
  16. We present a new method to analyze cancer of unknown primary origin (CUP) samples. Our method achieves good results with classification accuracy (88% leave-one-out cross validation for primary tumors from 56 c...

    Authors: Kalle A Ojala, Sami K Kilpinen and Olli P Kallioniemi
    Citation: Genome Medicine 2011 3:63
  17. Pharmacogenetic testing holds major promise in allowing physicians to tailor therapy to patients based on genotype. However, there is little data on the impact of pharmacogenetic test results on patient and cl...

    Authors: Wendy Lorizio, Hope Rugo, Mary S Beattie, Simone Tchu, Teri Melese, Michelle Melisko, Alan HB Wu, H Jeffrey Lawrence, Michele Nikoloff and Elad Ziv
    Citation: Genome Medicine 2011 3:64
  18. Stem cells hold great promise for pancreatic beta cell replacement therapy for diabetes. In type 1 diabetes, beta cells are mostly destroyed, and in type 2 diabetes beta cell numbers are reduced by 40% to 60%....

    Authors: Gordon C Weir, Claudia Cavelti-Weder and Susan Bonner-Weir
    Citation: Genome Medicine 2011 3:61
  19. The hepatitis C virus (HCV) infects nearly 3% of the World's population, causing severe liver disease in many. Standard of care therapy is currently pegylated interferon alpha and ribavirin (PegIFN/R), which i...

    Authors: Katherine R Smith, Vijayaprakash Suppiah, Kate O'Connor, Thomas Berg, Martin Weltman, Maria Lorena Abate, Ulrich Spengler, Margaret Bassendine, Gail Matthews, William L Irving, Elizabeth Powell, Stephen Riordan, Golo Ahlenstiel, Graeme J Stewart, Melanie Bahlo, Jacob George…
    Citation: Genome Medicine 2011 3:57
  20. Hypoxia is a feature of most solid tumors and is associated with poor prognosis in several cancer types, including breast cancer. The master regulator of the hypoxic response is the Hypoxia-inducible factor 1α...

    Authors: Elena Favaro, Simon Lord, Adrian L Harris and Francesca M Buffa
    Citation: Genome Medicine 2011 3:55
  21. Q fever is a worldwide zoonosis caused by Coxiella burnetii. The disease most frequently manifests clinically as a self-limited febrile illness, as pneumonia (acute Q fever) or as a chronic illness that presents ...

    Authors: Malgorzata Kowalczewska, Zuzana Sekeyová and Didier Raoult
    Citation: Genome Medicine 2011 3:50
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