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2012-09-10 New articles we read this week

Retinal Development

  1. Salbreux G, Barthel LK, Raymond PA, Lubensky DK. Coupling mechanical deformations and planar cell polarity to create regular patterns in the zebrafish retina. PLoS Comput Biol. 2012 Aug;8(8):e1002618. Epub 2012 Aug 23. PubMed PMID: 22936893; PubMed Central PMCID: PMC3426565.
  2. Chen M, Wang K, Lin B. Development and degeneration of cone bipolar cells areĀ  independent of cone photoreceptors in a mouse model of retinitis pigmentosa. PLoS One. 2012;7(8):e44036. Epub 2012 Aug 31. PubMed PMID: 22952865.
  3. He J, Zhang G, Almeida AD, Cayouette M, Simons BD, Harris WA. How variable clones build an invariant retina. Neuron. 2012 Sep 6;75(5):786-98. PubMed PMID: 22958820.
    • Commentary: Chen Z, Li X, Desplan C. Deterministic or stochastic choices in retinal neuron specification. Neuron. 2012 Sep 6;75(5):739-42. PubMed PMID: 22958814.

Eye disease

  1. Murakami Y, Matsumoto H, Roh M, Suzuki J, Hisatomi T, Ikeda Y, Miller JW, Vavvas DG. Receptor interacting protein kinase mediates necrotic cone but not rod cell death in a mouse model of inherited degeneration. Proc Natl Acad Sci U S A. 2012 Sep 4;109(36):14598-603. Epub 2012 Aug 20. PubMed PMID: 22908283.
  2. Kohl S, Coppieters F, Meire F, Schaich S, Roosing S, Brennenstuhl C, Bolz S, van Genderen MM, Riemslag FC; the European Retinal Disease Consortium, Lukowski R, den Hollander AI, Cremers FP, De Baere E, Hoyng CB, Wissinger B. A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia. Am J Hum Genet. 2012 Sep 7;91(3):527-532. Epub 2012 Aug 16. PubMed PMID: 22901948.
  3. Manzini MC, Tambunan DE, Hill RS, Yu TW, Maynard TM, Heinzen EL, Shianna KV, Stevens CR, Partlow JN, Barry BJ, Rodriguez J, Gupta VA, Al-Qudah AK, Eyaid WM, Friedman JM, Salih MA, Clark R, Moroni I, Mora M, Beggs AH, Gabriel SB, Walsh CA. Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome. Am J Hum Genet. 2012 Sep 7;91(3):541-7. PubMed PMID: 22958903.


  1. Schmitt MW, Kennedy SR, Salk JJ, Fox EJ, Hiatt JB, Loeb LA. Detection of ultra-rare mutations by next-generation sequencing. Proc Natl Acad Sci U S A. 2012 Sep 4;109(36):14508-13. Epub 2012 Aug 1. PubMed PMID: 22853953.
  2. Papers related to ENCODE
      1. Schaub MA, Boyle AP, Kundaje A, Batzoglou S, Snyder M. Linking disease associations with regulatory information in the human genome. Genome Res. 2012 Sep;22(9):1748-59. PubMed PMID: 22955986.
      2. Stamatoyannopoulos JA. What does our genome encode? Genome Res. 2012 Sep;22(9):1602-11. PubMed PMID: 22955972.
      3. Frazer KA. Decoding the human genome. Genome Res. 2012 Sep;22(9):1599-601. PubMed PMID: 22955971.
    1. Nature (with links to Genome Research papers)
      1. Skipper M, Dhand R, Campbell P. Presenting ENCODE. Nature. 2012 Sep6;489(7414):45. doi: 10.1038/489045a. PubMed PMID: 22955612.
      2. Ecker JR, Bickmore WA, Barroso I, Pritchard JK, Gilad Y, Segal E. Genomics: ENCODE explained. Nature. 2012 Sep 6;489(7414):52-5. doi: 10.1038/489052a. PubMed PMID: 22955614.
      3. ENCODE Project Consortium, Bernstein BE, Birney E, Dunham I, Green ED, Gunter C, Snyder M. An integrated encyclopedia of DNA elements in the human genome.Nature. 2012 Sep 6;489(7414):57-74. doi: 10.1038/nature11247. PubMed PMID: 22955616.
      4. Thurman RE, et al., The accessible chromatin landscape of the human genome. Nature. 2012 Sep 6;489(7414):75-82. doi: 10.1038/nature11232. PubMed PMID: 22955617.
      5. Neph S, et al., An expansive human regulatory lexicon encoded in transcription factor footprints. Nature. 2012 Sep 6;489(7414):83-90. doi: 10.1038/nature11212. PubMed PMID:22955618.
      6. Gerstein MB, et al., Architecture of the human regulatory network derived from ENCODE data. Nature. 2012 Sep 6;489(7414):91-100. doi: 10.1038/nature11245. PubMed PMID: 22955619.
      7. Djebali S, et al., Landscape of transcription in human cells. Nature. 2012 Sep 6;489(7414):101-8. doi: 10.1038/nature11233. PubMed PMID: 22955620.

Oxidative Stress

  1. Mukaigasa K, Nguyen LT, Li L, Nakajima H, Yamamoto M, Kobayashi M. Genetic Evidence of an Evolutionarily Conserved Role for Nrf2 in the Protection against Oxidative Stress. Mol Cell Biol. 2012 Sep 4. [Epub ahead of print] PubMed PMID: 22949501.

Stem cells

  1. Sancho-Martinez I, Baek SH, Izpisua Belmonte JC. Lineage conversion methodologies meet the reprogramming toolbox. Nat Cell Biol. 2012 Sep 3;14(9):892-9. doi: 10.1038/ncb2567. PubMed PMID: 22945254.
  2. Loh KM, Lim B. Epigenetics: Actors in the cell reprogramming drama. Nature. 2012 Aug 30;488(7413):599-600. doi: 10.1038/488599a. PubMed PMID: 22932382.


  1. Asch DA, Volpp KG. What business are we in? The emergence of health as the business of health care. N Engl J Med. 2012 Sep 6;367(10):888-9. Epub 2012 Aug 30. PubMed PMID: 22931228.
  2. Fani Marvasti F, Stafford RS. From sick care to health care–reengineering prevention into the U.S. system. N Engl J Med. 2012 Sep 6;367(10):889-91. PubMed PMID: 22931257.
  3. Barnes KA, Kroening-Roche JC, Comfort BW. The developing vision of primary care. N Engl J Med. 2012 Sep 6;367(10):891-3. PubMed PMID: 22931258.
  4. Baker M. Doctors back circumcision. Nature. 2012 Aug 30;488(7413):568. doi: 10.1038/488568a. PubMed PMID: 22932355.
  5. Nature Outlook HPV
    1. Crow JM. HPV: The global burden. Nature. 2012 Aug 30;488(7413):S2-3. doi: 10.1038/488S2a. PubMed PMID: 22932437.


  1. Maxmen A. Calorie restriction falters in the long run. Nature. 2012 Aug 30;488(7413):569. doi: 10.1038/488569a. PubMed PMID: 22932356.

Ethics, Social and Legal Issues

  1. Greenland P, Fontanarosa PB. Ending honorary authorship. Science. 2012 Aug 31;337(6098):1019. PubMed PMID: 22936744.