Posts tagged ‘Alzheimer’s Disease’

Genomics

  1. Venter’s New Goal: World’s Largest Sequencing Operation
  2. Clinical Whole Genome Sequencing: Not Quite Ready for Prime Time?

Genetics

  1. Vanderperre B, Lucier JF, Bissonnette C, Motard J, Tremblay G, Vanderperre S, Wisztorski M, Salzet M, Boisvert FM, Roucou X. Direct detection of alternative open reading frames translation products in human significantly expands the proteome. PLoS One. 2013 Aug 12;8(8):e70698. doi: 10.1371/journal.pone.0070698. eCollection 2013. PubMed PMID: 23950983; PubMed Central PMCID: PMC3741303.

Stem cells

  1. Acid-bath stem-cell study under investigation.

Genome-editing

  1. Tebas P, Stein D, Tang WW, Frank I, Wang SQ, Lee G, Spratt SK, Surosky RT, Giedlin MA, Nichol G, Holmes MC, Gregory PD, Ando DG, Kalos M, Collman RG, Binder-Scholl G, Plesa G, Hwang WT, Levine BL, June CH. Gene editing of CCR5 in autologous CD4 T cells of persons infected with HIV. N Engl J Med. 2014 Mar 6;370(10):901-10. doi: 10.1056/NEJMoa1300662. PubMed PMID: 24597865.
    • Editorial commentary: Kay MA, Walker BD. Engineering cellular resistance to HIV. N Engl J Med. 2014
      Mar 6;370(10):968-9. doi: 10.1056/NEJMe1400593. PubMed PMID: 24597871.
    • News coverage: Editing Genes May Make Cells Resist HIV.

Philosophy

How Academia and Publishing are Destroying Scientific Innovation: A Conversation with Sydney Brenner

Medicine

  1. Flannick J, Thorleifsson G, Beer NL, Jacobs SB, Grarup N, Burtt NP, Mahajan A, Fuchsberger C, Atzmon G, Benediktsson R, Blangero J, Bowden DW, Brandslund I, Brosnan J, Burslem F, Chambers J, Cho YS, Christensen C, Douglas DA, Duggirala R, Dymek Z, Farjoun Y, Fennell T, Fontanillas P, Forsén T, Gabriel S, Glaser B, Gudbjartsson DF, Hanis C, Hansen T, Hreidarsson AB, Hveem K, Ingelsson E, Isomaa  B, Johansson S, Jørgensen T, Jørgensen ME, Kathiresan S, Kong A, Kooner J, Kravic J, Laakso M, Lee JY, Lind L, Lindgren CM, Linneberg A, Masson G, Meitinger T, Mohlke KL, Molven A, Morris AP, Potluri S, Rauramaa R, Ribel-Madsen R, Richard AM, Rolph T, Salomaa V, Segrè AV, Skärstrand H, Steinthorsdottir V, Stringham HM, Sulem P, Tai ES, Teo YY, Teslovich T, Thorsteinsdottir U, Trimmer JK, Tuomi T, Tuomilehto J, Vaziri-Sani F, Voight BF, Wilson JG, Boehnke M, McCarthy MI, Njølstad PR, Pedersen O, Groop L, Cox DR, Stefansson K, Altshuler D. Loss-of-function mutations in SLC30A8 protect against type 2 diabetes. Nat Genet. 2014 Mar 2. doi: 10.1038/ng.2915. [Epub ahead of print] PubMed PMID: 24584071.
  2. Mapstone M, Cheema AK, Fiandaca MS, Zhong X, Mhyre TR, Macarthur LH, Hall WJ, Fisher SG, Peterson DR, Haley JM, Nazar MD, Rich SA, Berlau DJ, Peltz CB, Tan MT, Kawas CH, Federoff HJ. Plasma phospholipids identify antecedent memory impairment in older adults. Nat Med. 2014 Mar 9. doi: 10.1038/nm.3466. [Epub ahead of print]
    PubMed PMID: 24608097.

Imaging

  1. Foldscope: Origami-based paper microscope

Zebrafish

  1. Cressey D. Fish-kill method questioned. Nature. 2014 Feb 27;506(7489):419-20. doi: 10.1038/506419a. PubMed PMID: 24572404.

 

Eye disease

  1. Fernandez de Castro J, Scott PA, Fransen JW, Demas J, Demarco PJ, Kaplan HJ, McCall MA. Cone Photoreceptors Develop Normally in the Absence of Functional Rod Photoreceptors in a Transgenic Swine Model of Retinitis Pigmentosa. Invest Ophthalmol Vis Sci. 2014 Mar 11. pii: iovs.13-13724v1. doi: 10.1167/iovs.13-13724. [Epub ahead of print] PubMed PMID: 24618325.

Vision

  1. Partridge JC, Douglas RH, Marshall NJ, Chung WS, Jordan TM, Wagner HJ. Reflecting optics in the diverticular eye of a deep-sea barreleye fish (Rhynchohyalus natalensis). Proc Biol Sci. 2014 Mar 19;281(1782):20133223. doi: 10.1098/rspb.2013.3223. Print 2014. PubMed PMID: 24648222.

Evolution

  1. Gassmann AJ, Petzold-Maxwell JL, Clifton EH, Dunbar MW, Hoffmann AM, Ingber DA, Keweshan RS. Field-evolved resistance by western corn rootworm to multiple Bacillus thuringiensis toxins in transgenic maize. Proc Natl Acad Sci U S A. 2014 Mar 17. [Epub ahead of print] PubMed PMID: 24639498.

Neuroscience

  1. Bushdid C, Magnasco MO, Vosshall LB, Keller A. Humans can discriminate more than 1 trillion olfactory stimuli. Science. 2014 Mar 21;343(6177):1370-2. doi: 10.1126/science.1249168. PubMed PMID: 24653035.

Genetics/Genomics

  1. Mali P, Esvelt KM, Church GM. Cas9 as a versatile tool for engineering biology. Nat Methods. 2013 Sep 27;10(10):957-63. doi: 10.1038/nmeth.2649. PubMed  PMID: 24076990.
  2. Esvelt KM, Mali P, Braff JL, Moosburner M, Yaung SJ, Church GM. Orthogonal Cas9 proteins for RNA-guided gene regulation and editing. Nat Methods. 2013 Sep 29. doi: 10.1038/nmeth.2681. [Epub ahead of print] PubMed PMID: 24076762.
  3. Jao LE, Wente SR, Chen W. Efficient multiplex biallelic zebrafish genome editing using a CRISPR nuclease system. Proc Natl Acad Sci U S A. 2013 Aug 20;110(34):13904-9. doi: 10.1073/pnas.1308335110. Epub 2013 Aug 5. PubMed PMID: 23918387; PubMed Central PMCID: PMC3752207.
  4. Pennisi E. The CRISPR craze. Science. 2013 Aug 23;341(6148):833-6. doi: 10.1126/science.341.6148.833. PubMed PMID: 23970676.
  5. Koboldt DC, Steinberg KM, Larson DE, Wilson RK, Mardis ER. The next-generation sequencing revolution and its impact on genomics. Cell. 2013 Sep 26;155(1):27-38. doi: 10.1016/j.cell.2013.09.006. PubMed PMID: 24074859.
  6. Rivera CM, Ren B. Mapping human epigenomes. Cell. 2013 Sep 26;155(1):39-55. doi: 10.1016/j.cell.2013.09.011. PubMed PMID: 24074860.
  7. Bauer DE, Kamran SC, Lessard S, Xu J, Fujiwara Y, Lin C, Shao Z, Canver MC, Smith EC, Pinello L, Sabo PJ, Vierstra J, Voit RA, Yuan GC, Porteus MH, Stamatoyannopoulos JA, Lettre G, Orkin SH. An Erythroid Enhancer of BCL11A Subject to Genetic Variation Determines Fetal Hemoglobin Level. Science. 2013 Oct 11;342(6155):253-257. PubMed PMID: 24115442.
    • Commentary: Hardison RC, Blobel GA. GWAS to Therapy by Genome Edits? Science. 2013 Oct 11;342(6155):206-207. PubMed PMID: 24115432.

Behaviour

  1. Deeti S, O’Farrell S, Kennedy BN. Early Safety Assessment of Human Oculotoxic Drugs Using the Zebrafish Visualmotor Response. J Pharmacol Toxicol Methods. 2013 Sep 30. doi:pii: S1056-8719(13)00299-2. 10.1016/j.vascn.2013.09.002. [Epub ahead of print] PubMed PMID: 24091134.

Disease

  1. Chakravarti A, Clark AG, Mootha VK. Distilling pathophysiology from complex disease genetics. Cell. 2013 Sep 26;155(1):21-6. doi: 10.1016/j.cell.2013.09.001. PubMed PMID: 24074858.
  2. Moreno JA, Halliday M, Molloy C, Radford H, Verity N, Axten JM, Ortori CA, Willis AE, Fischer PM, Barrett DA, Mallucci GR. Oral Treatment Targeting the Unfolded Protein Response Prevents Neurodegeneration and Clinical Disease in Prion-Infected Mice. Sci Transl Med. 2013 Oct 9;5(206):206ra138. PubMed PMID: 24107777.

Vision

  1. Tappeiner C, Gerber S, Enzmann V, Balmer J, Jazwinska A, Tschopp M. Visual acuity and contrast sensitivity of adult zebrafish. Front Zool. 2012 May 29;9(1):10. PubMed PMID: 22643065; PubMed Central PMCID: PMC3453526.
  2. Bianco IH, Kampff AR, Engert F. Prey capture behavior evoked by simple visual stimuli in larval zebrafish. Front Syst Neurosci. 2011;5:101. doi:10.3389/fnsys.2011.00101. PubMed PMID: 22203793; PubMed Central PMCID: PMC3240898.

Genetics

  1. Xiao A, Wang Z, Hu Y, Wu Y, Luo Z, Yang Z, Zu Y, Li W, Huang P, Tong X, Zhu Z, Lin S, Zhang B. Chromosomal deletions and inversions mediated by TALENs and CRISPR/Cas in zebrafish. Nucleic Acids Res. 2013 Aug 1;41(14):e141.doi: 10.1093/nar/gkt464. Epub 2013 Jun 6. PubMed PMID: 23748566; PubMed Central PMCID: PMC3737551.
  2. Wei C, Liu J, Yu Z, Zhang B, Gao G, Jiao R. TALEN or Cas9 – rapid, efficient and specific choices for genome modifications. J Genet Genomics. 2013 Jun 20;40(6):281-9. doi: 10.1016/j.jgg.2013.03.013. Epub 2013 Apr 12. PubMed PMID: 23790627. 
  3. Gaj T, Gersbach CA, Barbas CF 3rd. ZFN, TALEN, and CRISPR/Cas-based methods for genome engineering. Trends Biotechnol. 2013 Jul;31(7):397-405. doi: 10.1016/j.tibtech.2013.04.004. Epub 2013 May 9. PubMed PMID: 23664777; PubMed Central PMCID: PMC3694601.
  4. Ochiai H, Fujita K, Suzuki K, Nishikawa M, Shibata T, Sakamoto N, Yamamoto T. Targeted mutagenesis in the sea urchin embryo using zinc-finger nucleases. Genes Cells. 2010 Aug;15(8):875-85. doi: 10.1111/j.1365-2443.2010.01425.x. Epub 2010 Jul 2. PubMed PMID: 20604805.
    • SSA assay
  5. Pattanayak V, Lin S, Guilinger JP, Ma E, Doudna JA, Liu DR. High-throughput profiling of off-target DNA cleavage reveals RNA-programmed Cas9 nuclease specificity. Nat Biotechnol. 2013 Aug 11. doi: 10.1038/nbt.2673. [Epub ahead of print] PubMed PMID: 23934178.
  6. Bruder CE, Piotrowski A, Gijsbers AA, Andersson R, Erickson S, Diaz de Ståhl T, Menzel U, Sandgren J, von Tell D, Poplawski A, Crowley M, Crasto C, Partridge EC, Tiwari H, Allison DB, Komorowski J, van Ommen GJ, Boomsma DI, Pedersen NL, den Dunnen JT, Wirdefeldt K, Dumanski JP. Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet. 2008 Mar;82(3):763-71. doi: 10.1016/j.ajhg.2007.12.011. Epub 2008 Feb 14. PubMed PMID: 18304490; PubMed Central PMCID: PMC2427204.
  7. Narlikar GJ, Sundaramoorthy R, Owen-Hughes T. Mechanisms and Functions of ATP-Dependent Chromatin-Remodeling Enzymes. Cell. 2013 Aug 1;154(3):490-503. doi: 10.1016/j.cell.2013.07.011. PubMed PMID: 23911317.

Cell cycle

  1. Jonas K, Liu J, Chien P, Laub MT. Proteotoxic Stress Induces a Cell-Cycle Arrest by Stimulating Lon to Degrade the Replication Initiator DnaA. Cell. 2013 Aug 1;154(3):623-36. doi: 10.1016/j.cell.2013.06.034. PubMed PMID: 23911325; PubMed Central PMCID: PMC3749246.

 Disease gene mapping and sequencing

  1. Brunham LR, Hayden MR. Hunting human disease genes: lessons from the past, challenges for the future. Hum Genet. 2013 Jun;132(6):603-17. doi: 10.1007/s00439-013-1286-3. Epub 2013 Mar 17. Review. PubMed PMID: 23504071; PubMed Central PMCID: PMC3654184.
  2. Shendure J, Lieberman Aiden E. The expanding scope of DNA sequencing. Nat Biotechnol. 2012 Nov;30(11):1084-94. doi: 10.1038/nbt.2421. Epub 2012 Nov 8. Review. PubMed PMID: 23138308.
  3. Gilissen C, Hoischen A, Brunner HG, Veltman JA. Disease gene identification strategies for exome sequencing. Eur J Hum Genet. 2012 May;20(5):490-7. doi: 10.1038/ejhg.2011.258. Epub 2012 Jan 18. Review. PubMed PMID: 22258526; PubMed Central PMCID: PMC3330229.
  4. Ku CS, Cooper DN, Polychronakos C, Naidoo N, Wu M, Soong R. Exome sequencing: dual role as a discovery and diagnostic tool. Ann Neurol. 2012 Jan;71(1):5-14. doi: 10.1002/ana.22647. Review. PubMed PMID: 22275248.
  5. Goldstein DB, Allen A, Keebler J, Margulies EH, Petrou S, Petrovski S, Sunyaev S. Sequencing studies in human genetics: design and interpretation. Nat Rev Genet. 2013 Jul;14(7):460-70. doi: 10.1038/nrg3455. Epub 2013 Jun 11. PubMed PMID: 23752795.
  6. Cirulli ET, Goldstein DB. Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat Rev Genet. 2010 Jun;11(6):415-25. doi: 10.1038/nrg2779. Review. PubMed PMID: 20479773.
  7. Rehm HL. Disease-targeted sequencing: a cornerstone in the clinic. Nat Rev Genet. 2013 Apr;14(4):295-300. doi: 10.1038/nrg3463. Epub 2013 Mar 12. PubMed PMID: 23478348.
  8. Gulsuner S, Walsh T, Watts AC, Lee MK, Thornton AM, Casadei S, Rippey C, Shahin H; Consortium on the Genetics of Schizophrenia (COGS); PAARTNERS Study Group, Nimgaonkar VL, Go RC, Savage RM, Swerdlow NR, Gur RE, Braff DL, King MC, McClellan JM. Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network. Cell. 2013 Aug 1;154(3):518-29. doi: 10.1016/j.cell.2013.06.049. PubMed PMID: 23911319.

Alzheimer’s Disease

  1. Mullard A. Sting of Alzheimer’s failures offset by upcoming prevention trials. Nat Rev Drug Discov. 2012 Sep;11(9):657-60. doi: 10.1038/nrd3842. PubMed PMID: 22935790.
  2. Aisen PS, Vellas B, Hampel H. Moving towards early clinical trials for amyloid-targeted therapy in Alzheimer’s disease. Nat Rev Drug Discov. 2013 Apr;12(4):324. doi: 10.1038/nrd3842-c1. Epub 2013 Mar 15. PubMed PMID: 23493086.
  3. Doody RS, Raman R, Farlow M, Iwatsubo T, Vellas B, Joffe S, Kieburtz K, He F, Sun X, Thomas RG, Aisen PS; Alzheimer’s Disease Cooperative Study SteeringCommittee, Siemers E, Sethuraman G, Mohs R; Semagacestat Study Group. A phase 3 trial of semagacestat for treatment of Alzheimer’s disease. N Engl J Med. 2013 Jul 25;369(4):341-50. doi: 10.1056/NEJMoa1210951. PubMed PMID: 23883379.
  4. Mullard A. Sting of Alzheimer’s failures offset by upcoming prevention trials. Nat Rev Drug Discov. 2012 Sep;11(9):657-60. doi: 10.1038/nrd3842. PubMed PMID: 22935790.
  5. Jonsson T, Atwal JK, Steinberg S, Snaedal J, Jonsson PV, Bjornsson S, Stefansson H, Sulem P, Gudbjartsson D, Maloney J, Hoyte K, Gustafson A, Liu Y, Lu Y, Bhangale T, Graham RR, Huttenlocher J, Bjornsdottir G, Andreassen OA, Jönsson EG, Palotie A, Behrens TW, Magnusson OT, Kong A, Thorsteinsdottir U, Watts RJ, Stefansson K. A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline. Nature. 2012 Aug 2;488(7409):96-9. doi: 10.1038/nature11283. PubMed PMID: 22801501.

Retinal development

  1. Suzuki SC, Bleckert A, Williams PR, Takechi M, Kawamura S, Wong RO. Cone photoreceptor types in zebrafish are generated by symmetric terminal divisions of dedicated precursors. Proc Natl Acad Sci U S A. 2013 Aug 26. [Epub ahead of print] PubMed PMID: 23980162.

Zebrafish

  1. Vignet C, Bégout ML, Péan S, Lyphout L, Leguay D, Cousin X. Systematic Screening of Behavioral Responses in Two Zebrafish Strains. Zebrafish. 2013 Jun 5. [Epub ahead of print] PubMed PMID: 23738739.