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Matsushita et al. Hepatoma Res 2018;4:61  I  http://dx.doi.org/10.20517/2394-5079.2018.81                                     Page 17 of 17


               51.  Dayton TL, Gocheva V, Miller KM, Israelsen WJ, Bhutkar A, Clish CB, Davidson SM, Luengo A, Bronson RT, Jacks T, Vander Heiden
                   MG. Germline loss of PKM2 promotes metabolic distress and hepatocellular carcinoma. Genes Dev 2016;30:1020-33.
               52.  Gumireddy K, Li A, Yan J, Setoyama T, Johannes GJ, Orom UA, Tchou J, Liu Q, Zhang L, Speicher DW, Calin GA, Huang Q. Identification
                   of a long non-coding RNA-associated RNP complex regulating metastasis at the translational step. EMBO J 2013;32:2672-84.
               53.  Bowler E, Porazinski S, Uzor S, Thibault P, Durand M, Lapointe E, Rouschop KMA, Hancock J, Wilson I, Ladomery M. Hypoxia leads to
                   significant changes in alternative splicing and elevated expression of CLK splice factor kinases in PC3 prostate cancer cells. BMC Cancer
                   2018;18:355.
               54.  Lamontagne RJ, Bagga S, Bouchard MJ. Hepatitis B virus molecular biology and pathogenesis. Hepatoma Res 2016;2:163-86.
               55.  Dixit U, Pandey AK, Liu Z, Kumar S, Neiditch MB, Klein KM, Pandey VN. FUSE binding protein 1 facilitates persistent hepatitis C virus
                   replication in hepatoma cells by regulating tumor suppressor p53. J Virol 2015;89:7905-21.
               56.  Samarin J, Laketa V, Malz M, Roessler S, Stein I, Horwitz E, Singer S, Dimou E, Cigliano A, Bissinger M, Falk CS, Chen X, Dooley S,
                   Pikarsky E, Calvisi DF, Schultz C, Schirmacher P, Breuhahn K. PI3K/AKT/mTOR-dependent stabilization of oncogenic far-upstream
                   element binding proteins in hepatocellular carcinoma cells. Hepatology 2016;63:813-26.
               57.  Rabenhorst U, Beinoraviciute-Kellner R, Brezniceanu ML, Joos S, Devens F, Lichter P, Rieker RJ, Trojan J, Chung HJ, Levens DL, Zörnig
                   M. Overexpression of the far upstream element binding protein 1 in hepatocellular carcinoma is required for tumor growth. Hepatology
                   2009;50:1121-9.
               58.  Moccia A, Srivastava A, Skidmore JM, Bernat JA, Wheeler M, Chong JX, Nickerson D, Bamshad M, Hefner MA, Martin DM, Bielas SL.
                   Genetic analysis of CHARGE syndrome identifies overlapping molecular biology. Genet Med 2018; doi: 10.1038/gim.2017.233.
               59.  Zhao JJ, Halvardson J, Zander CS, Zaghlool A, Georgii-Hemming P, Månsson E, Brandberg G, Sävmarker HE, Frykholm C, Kuchinskaya
                   E, Thuresson AC, Feuk L. Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability. Am J
                   Med Genet B Neuropsychiatr Genet 2018;177:10-20.
               60.  Low KJ, Ansari M, Abou Jamra R, Clarke A, El Chehadeh S, FitzPatrick DR, Greenslade M, Henderson A, Hurst J, Keller K, Kuentz P,
                   Prescott T, Roessler F, Selmer KK, Schneider MC, Stewart F, Tatton-Brown K, Thevenon J, Vigeland MD, Vogt J, Willems M, Zonana J,
                   Study DD, Smithson SF. PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and
                   spinal features. Eur J Hum Genet 2017;25:552-9.
               61.  Santos-Simarro F, Vallespin E, Del Pozo A, Ibañez K, Silla JC, Fernandez L, Nevado J, González-Pecellín H, Montaño VEF, Martin R, Alba
                   Valdivia LI, García-Miñaúr S, Lapunzina P, Palomares-Bralo M. Eye coloboma and complex cardiac malformations belong to the clinical
                   spectrum of PUF60 variants. Clin Genet 2017;92:350-1.
               62.  Graziano C, Gusson E, Severi G, Isidori F, Wischmeijer A, Brugnara M, Seri M, Rossi C. A de novo PUF60 mutation in a child with a
                   syndromic form of coloboma and persistent fetal vasculature. Ophthalmic Genet 2017;38:590-2.
               63.  Wells C, Spaggiari E, Malan V, Stirnemann JJ, Attie-Bitach T, Ville Y, Vekemans M, Bessieres B, Romana S. First fetal case of the 8q24.3
                   contiguous genes syndrome. Am J Med Genet A 2016;170A:239-42.
               64.  Dauber A, Golzio C, Guenot C, Jodelka FM, Kibaek M, Kjaergaard S, Leheup B, Martinet D, Nowaczyk MJ, Rosenfeld JA, Zeesman
                   S, Zunich J, Beckmann JS, Hirschhorn JN, Hastings ML, Jacquemont S, Katsanis N. SCRIB and PUF60 are primary drivers of the
                   multisystemic phenotypes of the 8q24.3 copy-number variant. Am J Hum Genet 2013;93:798-811.
               65.  Královicová J, Ševcíková I, Stejskalová E, Obuca M, Hiller M, Stanek D, Vorechovský I. PUF60-activated exons uncover altered 3′ splice-
                   site selection by germline missense mutations in a single RRM. Nucleic Acids Res 2018;46:6166-87.
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