Publication

Publication 2007
  1. Yamasaki-Ishizaki Y, Kayashima T, Mapendano CK, Soejima H, Ohta T, Masuzaki H, Kinoshita A, Urano T, Yoshiura K, Matsumoto N, Ishimaru T, Mukai T, Niikawa N, Kishino T. Role of DNA methylation and histone H3 lysine 27 methylation in tissue-specific imprinting of mouse Grb10. Mol Cell Biol 27(2): 732-742, 2007 Jan.
  2. Sato D, Shimokawa O, Harada N, Olsen OE, Hou JW, Muhlbauer W, Blinkenberg E, Okamoto N, Kinoshita A, Matsumoto N, Kondo S, Kishino T, Miwa N, Ariga T, Niikawa N, Yoshiura K. Congenital arhinia: Molecular-genetic analysis of five patients. Am J Med Genet A 143A(6): 546-552, 2007 Mar 15.
  3. Miura K, Yoshiura K, Miura S, Shimada T, Yamasaki K, Yoshida A, Nakayama D, Shibata Y, Niikawa N, Masuzaki H. A strong association between human earwax-type and apocrine colostrum secretion from the mammary gland. Hum Genet 121(5): 631-633, 2007 Jun.
  4. Kikuchi T, Nomura M, Tomita H, Harada N, Kanai K, Konishi T, Yasuda A, Matsuura M, Kato N, Yoshiura K, Niikawa N. Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families. J Hum Genet 52(4): 334-341, 2007.
  5. Miura K, Yamasaki K, Miura S, Yoshiura K, Shimada T, Nakayama D, Niikawa N, Masuzaki H. Circulating cell-free placental mRNA in the maternal plasma as a predictive marker for twin-twin transfusion syndrome. Clin Chem 53(6): 1167-1168, 2007 Jun.
  6. Sato D, Liang D, Wu L, Pan Q, Xia K, Dai H, Wang H, Nishimura G, Yoshiura K, Xia J, Niikawa N. A syndactyly type IV locus maps to 7q36. J Hum Genet 52(6): 561-564, 2007 May 3.
  7. Sakurai A, Onishi Y, Hirano H, Seigneuret M, Obanayama K, Kim G, Liew EL, Sakaeda T, Yoshiura K, Niikawa N, Sakurai M, Ishikawa T: Quantitative structure-activity relationship analysis and molecular dynamics simulation to functionally validate nonsynonymous polymorphisms of human ABC transporter ABCB1 (P-glycoprotein/MDR1). Biochemistry 46(26): 7678-7693, 2007 Jul 3.
  8. Dateki S, Kondoh T, Nishimura G, Motomura K, Yoshiura K, Kinoshita A, Kuniba H, Koga Y, Moriuchi H: A Japanese patient with a mild Lenz-Majewski syndrome. J Hum Genet 52(8): 686-689, 2007 Jun 26.
  9. Shiels A, Bennett TM, Knopf HL, Yamada K, Yoshiura K, Niikawa N, Shim S, Hanson PI: CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q. Am J Hum Genet 81(3): 596-606, 2007 Sep.
  10. Kaname T, Yanagi K, Chinen Y, Makita Y, Okamoto N, Maehara H, Owan I, Kanaya F, Kubota Y, Oike Y, Yamamoto T, Kurosawa K, Fukushima Y, Bohring A, Opitz JM, Yoshiura K, Niikawa N, Naritomi K: Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome. Am J Hum Genet 81(4): 835-841, 2007 Oct.
  11. International HapMap Consortium, Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Gibbs RA, Belmont JW, Boudreau A, Hardenbol P, Leal SM, Pasternak S, Wheeler DA, Willis TD, Yu F, Yang H, Zeng C, Gao Y, Hu H, Hu W, Li C, Lin W, Liu S, Pan H, Tang X, Wang J, Wang W, Yu J, Zhang B, Zhang Q, Zhao H, Zhao H, Zhou J, Gabriel SB, Barry R, Blumenstiel B, Camargo A, Defelice M, Faggart M, Goyette M, Gupta S, Moore J, Nguyen H, Onofrio RC, Parkin M, Roy J, Stahl E, Winchester E, Ziaugra L, Altshuler D, Shen Y, Yao Z, Huang W, Chu X, He Y, Jin L, Liu Y, Shen Y, Sun W, Wang H, Wang Y, Wang Y, Xiong X, Xu L, Waye MM, Tsui SK, Xue H, Wong JT, Galver LM, Fan JB, Gunderson K, Murray SS, Oliphant AR, Chee MS, Montpetit A, Chagnon F, Ferretti V, Leboeuf M, Olivier JF, Phillips MS, Roumy S, Sallée C, Verner A, Hudson TJ, Kwok PY, Cai D, Koboldt DC, Miller RD, Pawlikowska L, Taillon-Miller P, Xiao M, Tsui LC, Mak W, Song YQ, Tam PK, Nakamura Y, Kawaguchi T, Kitamoto T, Morizono T, Nagashima A, Ohnishi Y, Sekine A, Tanaka T, Tsunoda T, Deloukas P, Bird CP, Delgado M, Dermitzakis ET, Gwilliam R, Hunt S, Morrison J, Powell D, Stranger BE, Whittaker P, Bentley DR, Daly MJ, de Bakker PI, Barrett J, Chretien YR, Maller J, McCarroll S, Patterson N, Pe'er I, Price A, Purcell S, Richter DJ, Sabeti P, Saxena R, Schaffner SF, Sham PC, Varilly P, Altshuler D, Stein LD, Krishnan L, Smith AV, Tello-Ruiz MK, Thorisson GA, Chakravarti A, Chen PE, Cutler DJ, Kashuk CS, Lin S, Abecasis GR, Guan W, Li Y, Munro HM, Qin ZS, Thomas DJ, McVean G, Auton A, Bottolo L, Cardin N, Eyheramendy S, Freeman C, Marchini J, Myers S, Spencer C, Stephens M, Donnelly P, Cardon LR, Clarke G, Evans DM, Morris AP, Weir BS, Tsunoda T, Mullikin JC, Sherry ST, Feolo M, Skol A, Zhang H, Zeng C, Zhao H, Matsuda I, Fukushima Y, Macer DR, Suda E, Rotimi CN, Adebamowo CA, Ajayi I, Aniagwu T, Marshall PA, Nkwodimmah C, Royal CD, Leppert MF, Dixon M, Peiffer A, Qiu R, Kent A, Kato K, Niikawa N, Adewole IF, Knoppers BM, Foster MW, Clayton EW, Watkin J, Gibbs RA, Belmont JW, Muzny D, Nazareth L, Sodergren E, Weinstock GM, Wheeler DA, Yakub I, Gabriel SB, Onofrio RC, Richter DJ, Ziaugra L, Birren BW, Daly MJ, Altshuler D, Wilson RK, Fulton LL, Rogers J, Burton J, Carter NP, Clee CM, Griffiths M, Jones MC, McLay K, Plumb RW, Ross MT, Sims SK, Willey DL, Chen Z, Han H, Kang L, Godbout M, Wallenburg JC, L'Archevêque P, Bellemare G, Saeki K, Wang H, An D, Fu H, Li Q, Wang Z, Wang R, Holden AL, Brooks LD, McEwen JE, Guyer MS, Wang VO, Peterson JL, Shi M, Spiegel J, Sung LM, Zacharia LF, Collins FS, Kennedy K, Jamieson R, Stewart J: A second generation human haplotype map of over 3.1 million SNPs. Nature 449: 851-861, 2007 Oct 18.
  12. Fukusaki T, Ohara N, Hara Y, Yoshimura A, Yoshiura K. Evidence for association between a Toll-like receptor 4 gene polymorphism and moderate/severe periodontitis in the Japanese population. J Periodontal Res 42(6): 541-545, 2007 Dec.
  13. Sasaki K, Soejima H, Higashimoto K, Yatsuki H, Ohashi H, Yakabe S, Joh K, Niikawa N, Mukai T. Japanese and North American/European patients with Beckwith-Wiedemann syndrome have different frequencies off some epigenetic and genetic alterations. Eur J Hum Genet 15: 1205-1210, 2007 Dec.
  14. Hu H, Wu LQ, Feng Y, Pan Q, Long Z, Li J, Dai H, Xia K, Liang D, Niikawa N, Xia J. Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: A unique SLC26A4 mutation spectrum. J Hum Genet 52(6): 492-497, 2007.
  15. Nii E, Urawa M, Nshimura T, Kitou H, Ikegawa S, Shimizu S, Niikawa N, Taneda H, Uchida A. Acrodysostosis with unusual iridal color changing with age. Am J Med Genet B 144B(6):824-825, 2007 Sep 5.
  16. Sosonkina N, Miyake N, Harada N, Starenki D, Ohta T, Niikawa N, Matsumoto N: NSD1 exon array CGH rules out intragenic deletions as a possible cause in 30 Japanese patients with Sotos syndrome. Acta Med Nagasaki 52: 29-34, 2007.
  17. Higuchi N, Tahara N, Yanagihara K, Fukushima K, Suyama N, Inoue Y, Miyazaki Y, Kobayashi T, Yoshiura K, Niikawa N, Isomoto H, Shikuwa S, Mizuta Y, Kohno S, Tsukamoto K: A haplotype, NAT2*6A, of the N-acetyltransferase 2 gene is an important biomarker for a risk of anti-tuberculosis drug-induced hepatotoxicity in Japanese patients with tuberculosis. World J Gastroenterol 13(45): 6003-6008, 2007 Dec 7.
  18. Rotimi C, Leppert M, Matsuda I, Rotimi C, Zeng C, Zhang H, Adebamowo C, Ajayi I, Aniagwu T, Dixon M, Fukushima Y, Macer D, Marshall P, Nkwodimmah C, Peiffer A, Royal C, Suda E, Zhao H, McEwen J, Ota Wang V, Foster MW and The International HapMap Consortium (Gibbs RA, Belmont JW, Hardenbol P, Willis TD, Yu F, Yang H-M, Ch'ang LY, Huang W, Liu B, Shen Y, Tam R K-H, Tsui L-C, Waye MMY, Wong JTF, Zhang Q-R, Chee MS, Galver LM, Kruglyak S, Murray SS, Oliphant AR, Montpetit A, Hudson TJ, Chagnon F, Ferretti V, Leboeuf M, Phillips MS, Verner A, Kwok P-Y, Duan S, Lind DL, Miller RD, Rice JP, Saccone NL, Taillon-Miller P, Xiao M, Nakamura Y, Sekine A, Sorimachi K, Tanaka T, Tanaka Y, Tsunoda T, Yoshino E, Bentley DR, Deloukas P, Hunt S, Powell D, Altshuler D, Gabriel SB, Matthew O, Stein LD, Cunningham F, Kanani A, Thorisson GA, Chakravarti A, Chen PE, Cutler DJ, Kashuk CS, Donnelly P, Marchini J, McVean GAT, Myers SR, Cardon LR, Abecasis GaL, Morris A, Weir BS, Mullikin JC, Sherry ST, Feolo M, Altshuler D, Daly MJ, Schaffner SF, Qiu R, Kent A, Kato K, Niikawa N, Knoppers BM, Clayton EW, Watkin J, Gibbs RA, Belmont JW, Sodergren E, Weinstock GM, Wilson RK, Fulton LL, Rogers J, Birren BW, Han H, Wang H-G, Godbout M, Wallenburg JC, L'Archevêque P, Bellemare G, Todani K, Fujita T, Tanaka S, Holden AL, Lai EH, Collins FS, Brooks LD, McEwen JE, Guyer MS, Jordan E, Peterson JL, Spiegel J, Sung LM, Zacharia LF, Kennedy K, Dunn MG, Seabrook R, Shillito M, Skene B, Stewart JG. Community engagement, public consultation, and informed consent in the International HapMap Project. Community of Genet 10(3): 186-198, 2007 (IF: 1.197)
  19. Sato K, Iwakoshi M, Shimokawa O, Sakai H, Ohta T, Saitoh S, Miyake N, Niikawa N, Harada N, Saitsu H, Mizuguchi T, Matsumoto N. Angelman syndrome caused by an identical familial 1,487-kb deletion. Am J Med Genet A 143A(1): 98-101, 2007 Jan 1.