2013 Publications

  1. Barker JM, Zhang Y, Wang F, Taylor JR, Zhang H. (2013) Ethanol-induced Htr3a promoter methylation changes in mouse blood and brain. Alcohol. Clin. Exp. Res. 37 Suppl 1: E101-E107.
  2. Bilguvar K, Tyagi NK, Ozkara C, Tuysuz B, Bakircioglu M, Choi M, Delil S, Caglayan AO, Baranoski JF, Erturk O, Yalcinkaya C, Karacorlu M, Dincer A, Johnson MH, Mane S, Chandra SS, Louvi A, Boggon TJ, Lifton RP, Horwich AL, Gunel M. (2013) Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration. Proc. Natl. Acad. Sci. U.S.A. 110: 3489-3494.
  3. Caglayan A, Per H, Akgumus G, Gumus H, Baranoski J, Canpolat M, Calik M, Yikilmaz A, Bilguvar K, Kumandas S, Gunel M. (2013) Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum. Clin. Genet.
  4. Clark VE, Erson-Omay EZ, Serin A, Yin J, Cotney J, Ozduman K, Avsar T, Li J, Murray PB, Henegariu O, Yilmaz S, Gunel JM, Carrion-Grant G, Yilmaz B, Grady C, Tanrikulu B, Bakircioglu M, Kaymakcalan H, Caglayan AO, Sencar L, Ceyhun E, Atik AF, Bayri Y, Bai HW, Kolb LE, Hebert RM, Omay SB, Mishra-Gorur K, Choi M, Overton JD, Holland EC, Mane S, State MW, Bilguevar K, Baehring JM, Gutin PH, Piepmeier JM, Vortmeyer A, Brennan CW, Pamir MN, Kilic T, Lifton RP, Noonan JP, Yasuno K, Gunel M. (2013) Genomic Analysis of Non-NF2 Meningiomas Reveals Mutations in TRAF7, KLF4, AKT1, and SMO. Science 339: 1077-1080.
  5. Duke JL, Liu M, Yaari G, Khalil AM, Tomayko MM, Shlomchik MJ, Schatz DG, Kleinstein SH. (2013) Multiple Transcription Factor Binding Sites Predict AID Targeting in Non-Ig Genes. J. Immunol. 190: 3878-3888.
  6. Greco V. (2013) The Death and Growth Connection. Nat. Rev. Mol. Cell Biol. 14: 6.
  7. Jacobs DI, Hansen J, Fu A, Stevens RG, Tjonneland A, Vogel UB, Zheng TZ, Zhu Y. (2013) Methylation alterations at imprinted genes detected among long-term shiftworkers. Environ. Mol. Mutagen. 54: 141-146.
  8. Kim J, Kang YJ, Kojima Y, Lighthouse JK, Hu XY, Aldred MA, McLean DL, Park H, Comhair SA, Greif DM, Erzurum SC, Chun HJ. (2013) An endothelial apelin-FGF link mediated by miR-424 and miR-503 is disrupted in pulmonary arterial hypertension. Nat. Med. 19: 74-82.
  9. Lemaire M, Fremeaux-Bacchi V, Schaefer F, Choi M, Tang WH, Le Quintrec M, Fakhouri F, Taque S, Nobili F, Martinez F, Ji W, Overton JD, Mane SM, Nurnberg G, Altmuller J, Thiele H, Morin D, Deschenes G, Baudouin V, Llanas B, Collard L, Majid MA, Simkova E, Nurnberg P, Rioux-Leclerc N, Moeckel GW, Gubler MC, Hwa J, Loirat C, Lifton RP. (2013) Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Nat. Genet. 45: 531-536.
  10. Levinsohn JL, Tian LC, Boyden LM, McNiff JM, Narayan D, Loring ES, Yun D, Sugarman JL, Overton JD, Mane SM, Lifton RP, Paller AS, Wagner AM, Antaya RJ, Choate KA. (2013) Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceus. J. Invest. Dermatol. 133: 827-830.
  11. Osterndorff-Kahanek E, Ponomarev I, Blednov YA, Harris RA. (2013) Gene expression in brain and liver produced by three different regimens of alcohol consumption in mice: comparison with immune activation. Plos One 8: e59870.
  12. Qian F, Bolen CR, Jing CX, Wang XM, Zheng W, Zhao HY, Fikrig E, Bruce RD, Kleinstein SH, Montgomery RR. (2013) Impaired Toll-Like Receptor 3-Mediated Immune Responses from Macrophages of Patients Chronically Infected with Hepatitis C.  Virus. Clin. Vaccine Immunol. 20: 146-155.
  13. Radmanesh F, Caglayan AO, Silhavy JL, Yilmaz C, Cantagrel V, Omar T, Rosti B, Kaymakcalan H, Gabriel S, Li M, Sestan N, Bilguvar K, Dobyns WB, Zaki MS, Gunel M, Gleeson JG. (2013) Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. Am. J. Hum. Genet. 92: 468-474.
  14. Scholl UI, Lifton RP. (2013) New insights into aldosterone-producing adenomas and hereditary aldosteronism: mutations in the K+ channel KCNJ5. Curr. Opin. Nephrol. Hypertens. 22:141-147.
  15. Su MY, Steiner LA, Bogardus H, Mishra T, Schulz VP, Hardison RC, Gallagher PG. (2013) Identification of biologically relevant enhancers in human erythroid cells. J. Biol. Chem. 288: 8433-8444.
  16. Zaidi S, Choi M, Wakimoto H, Ma L, Jiang J, Overton JD, Romano-Adesman A, Bjornson RD, Breitbart RE, Brown KK, Carriero NJ, Cheung YH, Deanfield J, DePalma S, Fakhro KA, Glessner J, Hakonarson H, Italia MJ, Kaltman JR, Kaski J, Kim R, Kline JK, Lee T, Leipzig J, Lopez A, Mane SM, Mitchell LE, Newburger JW, Parfenov M, Pe'er I, Porter G, Roberts AE, Sachidanandam R, Sanders SJ, Seiden HS, State MW, Subramanian S, Tikhonova IR, Wang W, Warburton D, White PS, Williams IA, Zhao H, Seidman JG, Brueckner M, Chung WK, Gelb BD, Goldmuntz E, Seidman CE, Lifton RP. (2013) De novo mutations in histone-modifying genes in congenital heart disease. Nature. 498: 220-223.
  17. Zhang H, Herman AI, Kranzler HR, Anton RF, Zhao H, Zheng W, Gelernter J. (2013) Array-based profiling of DNA methylation changes associated with alcohol dependence. Alcohol. Clin. Exp. Res. 37 Suppl 1: E108-115.
  18. Zhao SM, Choi M, Overton JD, Bellone S, Roque DM, Cocco E, Guzzo F, English DP, Varughese J, Gasparrini S, Bortolomai I, Buza N, Hui P, Abu-Khalaf M, Ravaggi A, Bignotti E, Bandiera E, Romani C, Todeschini P, Tassi R, Zanotti L, Carrara L, Pecorelli S, Silasi DA, Ratner E, Azodi M, Schwartz PE, Rutherford TJ, Stiegler AL, Mane S, Boggon TJ, Schlessinger J, Lifton RP, Santin AD. (2013) Landscape of somatic single-nucleotide and copy-number mutations in uterine serous carcinoma. Proc. Natl. Acad. Sci. U.S.A 110: 2916-2921.