業績

ホーム＞業績＞２０１７年業績
２０１７年業績
  1. Nishitani S, Ikematsu K, Takamura T, Honda S, Yoshiura KI, Shinohara K. Genetic variants in oxytocin receptor and arginine-vasopressin receptor 1A are associated with the neural correlates of maternal and paternal affection towards their child. Horm Behav. 2017 Jan;87: 47-56. doi: 10.1016/j.yhbeh.2016.09.010.
  2. Dateki S, Watanabe S, Kinoshita F, Yoshiura KI, Moriuchi H. Identification of 11p14.1-p15.3 deletion probably associated with short stature, relative macrocephaly, and delayed closure of the fontanelles. Am J Med Genet A. 2017 Jan;173(1):217-220. doi: 10.1002/ajmg.a.37978. Epub 2016 Sep 23.
  3. Nikitski AV, Rogounovitch TI, Bychkov A, Takahashi M, Yoshiura KI, Mitsutake N, Kawaguchi T, Matsuse M, Drozd VM, Demidchik Y, Nishihara E, Hirokawa M, Miyauchi A, Rubanovich AV, Matsuda F, Yamashita S, Saenko VA. Genotype Analyses in the Japanese and Belarusian Populations Reveal Independent Effects of rs965513 and rs1867277 but Do Not Support the Role of FOXE1 Polyalanine Tract Length in Conferring Risk for Papillary Thyroid Carcinoma. Thyroid. 2017 Feb;27(2):224-235. doi: 10.1089/thy.2015.0541. Epub 2016 Dec 15.
  4. Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM Jr, Lin AE, Katsanis N, Jones PL, Crowley WF Jr, Davis EE, FitzPatrick DR, Talkowski ME. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet. 2017 Feb; 49(2): 238-248. doi: 10.1038/ng.3743.
  5. Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, Yoshiura K-i, Oufadem M, Beck TJ, McGowan R, Magee AC, Altmüller J, Dion C, Thiele H, Gurzau AD, Nürnberg P, Meschede D, Mühlbauer W, Okamoto N, Varghese V, Irving R, Sigaudy S, Williams D, Ahmed SF, Bonnard C, Kong MK, Ratbi I, Fejjal N, Fikri M, Elalaoui SC, Reigstad H, Bole-Feysot C, Nitschké P, Ragge N, Lévy N, Tunçbilek G, Teo ASM, Cunningham ML, Sefiani A, Kayserili H, Murphy JM, Chatdokmaiprai C, Hillmer AM, Wattanasirichaigoon D, Lyonnet S, Magdinier F, Javed A, Blewitt ME, Amiel J, Wollnik B, Reversade B. De novo mutations in SMCHD1 abrogate nasal development. Nat Genet. 2017 Feb; 49(2): 249-255. doi: 10.1038/ng.3765
  6. Ishikawa T, Ohno S, Murakami T, Yoshida K, Mishima H, Fukuoka T, Kimoto H, Sakamoto R, Ohkusa T, Aiba T, Nogami A, Sumitomo N, Shimizu W, Yoshiura KI, Horigome H, Horie M, Makita N. Sick sinus syndrome with HCN4 mutations shows early onset and frequent association with atrial fibrillation and left ventricular noncompaction. Heart Rhythm. 2017 May;14(5):717-724. doi: 10.1016/j.hrthm.2017.01.020. Epub 2017 Jan 17.
  7. Iwanaga A, Okubo Y, Yozaki M, Koike Y, Kuwatsuka Y, Tomimura S, Yamamoto Y, Tamura H, Ikeda S, Maemura K, Tsuiki E, Kitaoka T, Endo Y, Mishima H, Yoshiura KI, Ogi T, Tanizaki H, Wataya-Kaneda M, Hattori T, Utani A. Analysis of clinical symptoms and ABCC6 mutations in 76 Japanese patients with pseudoxanthoma elasticum. J Dermatol. 2017 Jun;44(6):644-650. doi: 10.1111/1346-8138.13727. Epub 2017 Feb 10.
  8. Morimoto Y, Ono S, Imamura A, Okazaki Y, Kinoshita A, Mishima H, Nakane H, Ozawa H, Yoshiura KI, Kurotaki N.  Deep sequencing reveals variations in somatic cell mosaic mutations between monozygotic twins with discordant psychiatric disease. Hum Genome Var. 2017 Jul 27;4:17032. doi: 10.1038/hgv.2017.32. eCollection 2017.  
  9. Dateki S, Nakatomi A, Watanabe S, Shimizu H, Inoue Y, Baba H, Yoshiura KI, Moriuchi H. Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation. J Hum Genet. 2017 Jul;62(7):717-721. doi: 10.1038/jhg.2017.33. Epub 2017 Mar 23.
  10. Seki A, Ishikawa T, Daumy X, Mishima H, Barc J, Sasaki R, Nishii K, Saito K, Urano M, Ohno S, Otsuki S, Kimoto H, Baruteau AE, Thollet A, Fouchard S, Bonnaud S, Parent P, Shibata Y, Perrin JP, Le Marec H, Hagiwara N, Mercier S, Horie M, Probst V, Yoshiura KI, Redon R, Schott JJ, Makita N. Progressive Atrial Conduction Defects Associated With Bone Malformation Caused by a Connexin-45 Mutation. J Am Coll Cardiol. 2017 Jul 18;70(3):358-370. doi: 10.1016/j.jacc.2017.05.039.
  11. Smith AL, Kousa YA, Kinoshita A, Fodor K, Yang B, Schutte BC. Generation and characterization of a conditional allele of Interferon Regulatory Factor 6. Genesis. 2017 Jul;55(7). doi: 10.1002/dvg.23038. Epub 2017 Jun 22.
  12. Miura K, Kurabayashi T, Satoh C, Sasaki K, Ishiguro T, Yoshiura KI, Masuzaki H. Fetiform teratoma was a parthenogenetic tumor arising from a mature ovum. J Hum Genet. 2017 Sep;62(9):803-808. doi: 10.1038/jhg.2017.45. Epub 2017 Apr 27.
  13. Asano T, Furukawa H, Sato S, Yashiro M, Kobayashi H, Watanabe H, Suzuki E, Ito T, Ubara Y, Kobayashi D, Iwanaga N, Izumi Y, Fujikawa K, Yamasaki S, Nakamura T, Koga T, Shimizu T, Umeda M, Nonaka F, Yasunami M, Ueki Y, Eguchi K, Tsuchiya N, Tohma S, Yoshiura KI, Ohira H, Kawakami A, Migita K. Effects of HLA-DRB1 alleles on susceptibility and clinical manifestations in Japanese patients with adult onset Still's disease. Arthritis Res Ther. 2017 Sep 12;19(1):199. doi: 10.1186/s13075-017-1406-x.
  14. Kitajima M, Miura K, Inoue T, Murakami Y, Kitajima Y, Murakami N, Taniguchi K, Yoshiura KI, Masuzaki H. Two consecutive successful live birth in woman with 17α hydroxylase deficiency by frozen-thaw embryo transfer under hormone replacement endometrium preparation. Gynecol Endocrinol. 2018 May; 34(5): 381-384  2017 Oct 25:1-4. doi: 10.1080/09513590.2017.1393512. [Epub ahead of print]
  15. Satoh C, Maekawa R, Kinoshita A, Mishima H, Doi M, Miyazaki M, Fukuda M, Takahashi H, Kondoh T, Yoshiura K-i. Three Brothers with a Nonsense Mutation in KAT6A Caused by Parental Germline Mosaicism. Human Genome Variation 2017 4: 17045. doi:10.1038/hgv.2017.45; published online 9 November 2017
  16. Oshima Y, Yamamoto T, Ishikawa T, Mishima H, Matsusue A, Umehara T, Murase T, Abe Y, Kubo SI, Yoshiura KI, Makita N, Ikematsu K. Postmortem genetic analysis of sudden unexpected death in infancy: neonatal genetic screening may enable the prevention of sudden infant death. J Hum Genet. 2017 Nov;62(11):989-995. doi: 10.1038/jhg.2017.79. Epub 2017 Jul 27.