医療関係者・学生向け 研究実績

2011年

【和文】

  •   1. 深見真紀,曽根田瞬,加藤芙弥子,花木啓一,神埼晋,大山建司,佐野友昭,西垣敏紀,稲垣朱実,高木博史,Gerhard Binder,横谷進,堀川玲子,生水真紀夫,緒方勤:遺伝性女性化乳房症6家系における疾患成立機序と臨床像の解明.日本内分泌学会雑誌87 (Supple): 94-97, 2011
  •   2. 緒方勤:ヌーナン症候群における成長ホルモン治療.成長障害診療Q & A メディカルレビュー社.2011.
  •   3. 緒方勤:ターナー症候群.井村裕夫、福井次矢、辻省次(編)症候群ハンドブック.中山書店pp 682-683, 2011.
  •   4. 緒方勤:クラインフェルター症候群.井村裕夫、福井次矢、辻省次(編)症候群ハンドブック.中山書店pp 684-685, 2011.
  •   5. 緒方勤:性分化異常症.森崇英,柴原章裕,島田昌之,角田幸雄(編)卵子学.京都大学出版会(印刷中)
  •   6. 緒方勤:多因子疾患の遺伝的解析:理解へのロードマップ?それとも莫大な資金消費?.Pediatric Endocrinology Reviews抄訳シリーズ.No. 3. ジャパンメディアートパブリッシング pp 2-3, 2011.
  •   7. 緒方勤:性分化疾患における遺伝カウンセリング.福嶋義光(編)遺伝子医学MOOK別冊 遺伝カウンセリングハンドブック.メディカルドゥ(印刷中)
  •   8. 緒方勤:原発性性線機能低下症.今日の小児治療指針15版.医学書院(印刷中).
  •   9. 緒方勤:減数分裂.石塚文平,鈴木秋悦(編)生殖卵総学:基礎知識と臨床の進展.医歯薬出版株式会社(印刷中).
  • 10. 松原圭子,村上信行,永井敏郎,緒方勤:高齢出産に伴うPrader-Willi症候群(PWS)病因の変化.PWSの最近のトピックス.永井敏郎,大野耕策,緒方勤,横谷進(編)Prader-Willi症候群.診断と治療社(印刷中).
  • 11. 松原圭子,村上信行,永井敏郎,緒方勤:Prader-Willi症候群(PWS)と生殖補助医療.PWSの最近のトピックス.永井敏郎,大野耕策,緒方勤,横谷進(編)Prader-Willi症候群.診断と治療社(印刷中).
  • 12. 緒方勤:多様なヌクレオチド除去修復(NER)とその医学的意義.Pediatric Endocrinology Reviews抄訳シリーズ. ジャパンメディアートパブリッシング .No. 26: 4-5、2011.
  • 13. 緒方勤:Lartge ring X chromosomeを有する母娘例:卵巣機能と知能発達の観点から.新川詔夫,緒方勤(監)ビジュアル疾患解説:遺伝病とターナー症候群.日本ケミカルリサーチNo.7, pp 14-15, 2011
  • 14. 福家辰樹、大関武彦:平成22年度牛乳栄養学術研究会委託研究「小児期における牛乳に対する免疫応答の適切評価ならびに特異的経口免疫療法が牛乳乳製品摂取および成長発達に与える影響」、社団法人日本酪農乳業協会、2011年10
  • 15. 大石彰:目で見る小児科「頭血腫の骨化」 小児科 2011;52(9):1213-4
  • 16. 大石彰, 伊東宏晃, 岩島覚: 妊娠中に羊水過多を来したOpitz G/BBB症候群の1例.日本周産期・新生児医学会雑誌 2009: 45(4); 1499-1504
  • 17. 金林純子, 八木宏明, 平塚恵, 伊東充宏, 香川二郎, 池谷健, 坂口公祥, 堀越泰雄, 工藤寿子:出生時より多発する皮疹がみられたLangerhans細胞組織球症 日本小児皮膚科学会雑誌(0286-9608)29巻2号 Page119-122,2(2010.11)
  • 18. 天野功二, 阿部泰子, 坂口公祥, 野村明孝, 小倉妙美, 高嶋能文, 堀越泰雄, 三間屋純一, 工藤寿子:造血幹細胞移植時の粘膜障害による疼痛に対するフェンタニルを用いたPatient-Controlled Analgesia 小児がん(0389-4525)47巻3号 Page428-433(2010.09)
  • 19. 王茂治, 坂口公祥, 曽根功三, 田口智英, 堀越泰雄, 工藤寿子, 木村光明:骨髄移植により治療したChediak-Higashi症候群の1例 日本小児科学会雑誌 第115巻 第11号

【英文】

  •   1. Inoue H*, Kangawa N, Kinouchi A, Sakamoto Y, Kimura C, Horikawa R, Shigematsu Y, Itakura M, Ogata T, Fujieda K: Identification and functional analysis of novel human growth hormone-releasing hormone receptor (GHRHR) gene mutations in Japanese subjects with short stature. Clin Endocrinol 74 (2): 223-233, 2011 (IF = 3.201)
  •   2. Yamazawa K, Nakabayashi K, Matsuoka K, Matsubara K, Hata K, Horikawa R, Ogata T*: Androgenetic/biparental mosaicism in a girl with Beckwith-Wiedemann syndrome-like and upd(14)pat-like phenotypes. J Hum Genet 56 (1): 91-93, 2011. (IF = 2.547)
  •   3. Inoue H*, Kangawa N, Kinouchi A, Sakamoto Y, Kimura C, Horikawa R, Shigematsu Y, Itakura M, Ogata T, Fujieda K: Identification and functional analysis of novel human growth hormone secretagogue receptor (GHSR) gene mutations in Japanese subjects with short stature. J Clin Endocrinol Metab 96 (2): E373-378, 2011. (IF = 6.202)
  •   4. Fukami M, Muroya K, Miyake T, Iso M, Yokoi H, Suzuki Y, Tsubouchi K, Nakagomi Y, Kikuchi N, Horikawa R, Ogata T*: GATA3 abnormalities in six patients with HDR syndrome. Endocr J 58 (2): 117-121, 2011.
  •   5. Dateki S, Fukami M, Tanaka Y, Sasaki G, Moriuchi H, Ogata T*: Identification of chromosome 15q terminal deletion with telomere sequences and its bearing on genotype-phenotype analysis. Endocr J 58 (3): 155-159, 2011
  •   6. Brandao MP, Costa EM, Fukami M, Gerdulo M, Pereira NP, Domenice S, Ogata T, Mendonca BB. MAMLD1 (Mastermind-Like Domain Containing 1) Homozygous Gain-of-Function Missense Mutation Causing 46,XX Disorder of Sex Development in a Virilized Female. Adv Exp Med Biol 707 (10):129-31, 2011.
  •   7. Miyazaki O*, Nishimura G, Kagami M, Ogata T: Radiological evaluation of dysmorphic thorax in paternal uniparental disomy for chromosome Ped Radiol (accepted).
  •   8. Kalfa N, Cassorla F, Abdennabi IO, Audran F, Philibert P, Daures JP, Baskin L, Fukami M, Ogata T, Sultan C*: Exonic polymorphisms of MAMLD1 (CXorf6) are associated with hypospadias. J Urol (accepted).
  •   9. Fukami, Shozu M, Soneda S, Kato F, Inagaki A, Takagi H, Hanaki K, Kanzaki S, Ohyama K, Sano T, Nishigaki T, Yokoya S, Binder G, Horikawa R, Ogata T*: Aromatase excess syndrome: identification of cryptic duplications and deletions leading to gain-of-function of CYP19A1 and assessment of phenotypic determinants. J Clin Endocrinol Metab 96 (6): E1035-1043, 2011.
  • 10. Ogata T*, Matsubara K: Steroid 5a-reductase-2 deficiency and fertility. Fertil Steril 95 (7): e46.
  • 11. Nakamura M, Fukami M, Sugawa F, Miyado M, Nonomura K, Ogata T*: Mamld1 knockdown reduces testosterone production and Cyp17a1 expression in mouse Leydig tumor cells. PLoS ONE (accepted).
  • 12. Matsubara K, Murakami N, Nagai T, Ogata T*: Maternal age effect on the development of Prader-Willi syndrome resulting from upd(15)mat through meiosis 1 errors. J Hum Genet (accepted).
  • 13. Nakabayashi K*, Trujillo AM, Tayama C, Camprubi C, Yoshida W, Lapunzina P, Sanchez A, Soejima H, Aburatani H, Nagae G, Ogata T, Hata K, David Monk D: Methylation screening of reciprocal genome-wide UPDs identifies novel human specific imprinted genes. Hum Mol Genet (accepted).
  • 14. Ayabe T, Ishizuka B, Maruyama T, Uchida H, Yoshimura Y, Yoshida R, Fukami M, Nagai T, Ogata T*: Association of primary ovarian insufficiency with a specific HLA haplotype (A*24:02-C*03:03-B*35:01) in Japanese patients. Sex Dev (accepted).
  • 15. Inoue H, Sakamoto Y, Kangawa N, Kimura C, Ogata T, Fujieda K, Qian, ZR, SanoT, Itakura M. Analysis of expression and structure of the rat GH secretagogue/ghrelin receptor (Ghsr) gene: roles of epigenetic modifications in transcriptional regulation. Mol Cell Endocrinol 2011 (accepted)
  • 16. Inoue H >>>>..Identification of a novel mutation in the exon 2 splice donor site of the POU1F1/PIT-1 gene in Japanese identical twins with mild combined pituitary hormone deficiency. Clin Endocrinol
  • 17. Kalfa N, Fukami M, Audran F, Philibert P, Pienkowski C, Weill G, Pinto C, Manouvrier S, Ogata T, C Sultan C*: Screening of MAMLD1 mutations in 70 children with 46,XY DSD: identification and functional analysis of two new variants. (submitted).
  • 18. Stoppa-Vaucher S, Ayabe T, Paquette J, Patey N, Francoeur D, Vuissoz J-M, Deladoey J, Ogata T, Deal CL: 46, XY gonadal dysgenesis: new point mutation in two siblings and a germ line mosaicism in their father. J Clin Endocrinol Metab (submitted).
  • 19. Kalfa N, Fukami M, Audran F, Philibert P, Pienkowski C, Weill G, Pinto C, Manouvrier S, Ogata T, C Sultan C*: Screening of MAMLD1 mutations in 70 children with 46,XY DSD: Identification and functional analysis of 2 new mutations. (submitted).
  • 20. Ishikawa S, Umeda T, Tatsuno K, Isagawa T, Nagae G, Komura D, Yamamoto S, Matsubara K, Iwamoto Y, Stark M, Nemoto Y, Suemori H, Nakatsuji N, Jones KW, Ogata T, Soejima H, Fukayama M, Aburatani H*: Hidden extra-embryonic imprinting profile revealed by systematic transcriptome typing. (submitted).
  • 21. Mochizuki M*, Kojika S, Hosaka H, Ishihara T, Kobayashi K, Yoshida R, Ogata T, Ohyama K: Low sensitivity to estradiol causes labial adhesion in young infants. J Pediatr
  • 22. Qin X-Y, Kojima Y, Mizuno K, Ueoka K, Massart F, Spinelli C, Zaha H, Okura M, Yoshinaga J, Yonemoto J, Kohri K, Hayashi Y, Ogata T, Sone H*: AHR, ARNT2, CYP1A2, CYP17A1 and NR1I2 gene polymorphisms as risk factors for male genital malformations. PLoS ONE (submitted).
  • 23. Fuke-Sato T, Yamazawa K, Nakabayashi K, Matsubara K, Matsuoka K, Hasegawa T, Dobashi K, Ogata T*: Mosaic upd(7)mat in a patient with Silver-Russell syndrome: correlation between phenotype and mosaic ratio in the body and the placenta. Am J Med Genet A (submitted).
  • 24. Sugihara S*, Tsutomu Ogata T, Kawamura T, Urakami T, Takemoto K, Kikuchi N, Takubo N, Tsubouchi K, Horikawa R, Kobayashi K, Kasahara Y, Kikuchi T, Koike A, Mochizuki T, Minamitani K, Takaya R, Mochizuki H, Nishii A, Yokota I, Kizaki Y, Mori T, Shimura N, Mukai T, Matsuura N, Fujisawa T, Ihara K, Kosaka K, Kizu R, Takahashi T, Matsuo S, Hanaki K, Igarashi Y, Sasaki G, Soneda S, Teno S, Kanzaki S, Saji H, Tokunaga K, Amemiya S, The Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes (JSGIT): Genetic characteristics on HLA-cass II and class I among Japanese type 1A and type 1B diabetic children and their families. Diabetes (submitrted).
  • 25. Soneda S, Yazawa T, Fukami M*, Adachi M, Mizota M, Fujieda K, Miyamoto K, Ogata T: Proximal promoter of the cytochrome P450 oxidoreductase gene: identification of microdeletions involving the untranslated exon 1 and critical function of the SP1 binding site. J Clin Endocrinol Metab (submitted).
  • 26. Kagami M, Kato F, Matsubara K, Sato T, Nishimura G, Ogata T: Paternal uniparental disomy 14 syndrome: relative frequency of underlying genetic factors. Eur J Hum Genet (submitted).
  • 27. Ayabe T, Ishizuka B, Maruyama T, Uchida H, Yoshimura Y, Yoshida R, Fukami M, Nagai T, Ogata T*: Association of primary ovarian insufficiency with a specific HLA haplotype (A*24:02-C*03:03-B*35:01) in Japanese patients. Sex Dev 5 (5): 235-240, 2011.
  • 28. Yamazawa K, Nakabayashi K, Matsuoka K, Matsubara K, Hata K, Horikawa R, Ogata T*: Androgenetic/biparental mosaicism in a girl with Beckwith-Wiedemann syndrome-like and upd(14)pat-like phenotypes. J Hum Genet 56 (1): 91-93, 2011. (IF = 2.547)
  • 29. Fukami M, Muroya K, Miyake T, Iso M, Yokoi H, Suzuki Y, Tsubouchi K, Nakagomi Y, Kikuchi N, Horikawa R, Ogata T*: GATA3 abnormalities in six patients with HDR syndrome. Endocr J 58 (2): 117-121, 2011.
  • 30. Dateki S, Fukami M, Tanaka Y, Sasaki G, Moriuchi H, Ogata T*: Identification of chromosome 15q terminal deletion with telomere sequences and its bearing on genotype-phenotype analysis. Endocr J 58 (3): 155-159, 2011
  • 31. Fukami, Shozu M, Soneda S, Kato F, Inagaki A, Takagi H, Hanaki K, Kanzaki S, Ohyama K, Sano T, Nishigaki T, Yokoya S, Binder G, Horikawa R, Ogata T*: Aromatase excess syndrome: identification of cryptic duplications and deletions leading to gain-of-function of CYP19A1 and assessment of phenotypic determinants. J Clin Endocrinol Metab 96 (6): E1035-1043, 2011.
  • 32. Nakamura M, Fukami M, Sugawa F, Miyado M, Nonomura K, Ogata T*: Mamld1 knockdown reduces testosterone production and Cyp17a1 expression in mouse Leydig tumor cells. PLoS ONE 6 (4): e19123, 2011.
  • 33. Matsubara K, Murakami N, Nagai T, Ogata T*: Maternal age effect on the development of Prader-Willi syndrome resulting from upd(15)mat through meiosis 1 errors. J Hum Genet 56 (8): 566-71, 2011.
  • 34. Soneda S, Yazawa T, Fukami M*, Adachi M, Mizota M, Fujieda K, Miyamoto K, Ogata T: Proximal promoter of the cytochrome P450 oxidoreductase gene: identification of microdeletions involving the untranslated exon 1 and critical function of the SP1 binding site. J Clin Endocrinol Metab 96 (11): E1881-1887, 2011.
  • 35. Ogata T*, Matsubara K, Nagata E, Sano S, Murakami N, Nagai T: Advanced maternal age and the development of Prader-Willi syndrome resulting from upd(15)mat through non-disjunction at meiosis 1. J Mamm Ova Res 28 (3): 96-102, 2011.
  • 36. Nagata E, Nakagawa Y, Yamaguchi R, Fujisawa Y, Sano S, Satake E, Matsushita R, Nakanishi T, Liu Y, Ohzeki T. Altered gene expressions of ghrelin, PYY, and CCK in the gastrointestinal tract of the hyperphagic intrauterine growth restriction rat offspring. Horm Metab Res. 2011 Mar;43(3):178-82. Epub 2011 Jan 24.
  • 37. Iwasima S, et al. Continuous Central Venous Oxygen Saturation Monitoring in Neonate. Patient reports Pediatrics International (in press)
  • 38. Iwasima S, et al Association of abdominal aortic wall thickness in the newborn with maternal factors American Journal of Perinatology (in press)
  • 39. Ishikawa T, Iwashima S, Ohishi A, Nakagawa Y, Ohzeki T. Prevalence of congenital heart disease assessed by echocardiography in 2067 consecutive newborns. Acta Paediatr. 2011 Aug;100(8):e55-60.
  • 40. Fujisawa Y, Li W, Wu D, Wong P, Vogel CF, Dong B, Hsing-Jien K, Matsumura F. Ligand-independent Activation of the Arylhydrocarbon Receptor by ETK (Bmx) Tyrosine Kinase Helps MCF10AT1 Breast Cancer Cells to Survive under the Apoptosis-inducing Environment. Biol. Chemi. 2011 Oct;392(10):897-908.
  • 41. Vogel CF, Li W, Wu D, Miller JK, Sweeney C, Lazennec G, Fujisawa Y, Matsumura F. Interaction of aryl hydrocarbon receptor and NF-κB subunit RelB in breast cancer is associated with interleukin-8 overexpression. Arch Biochem Biophys. 2011 Aug 1;512(1):78-86.
  • 42. Ohishi A, Takahashi S, Ito Y, Ohishi Y, Tsukamoto K, Nanba Y, Ito N, Kakiuchi S, Saitoh A, Morotomi M, Nakamura T. Bifidobacterium Septicemia Associated with Postoperative Probiotic Therapy in a Neonate with Omphalocele. The Jouranal of Pediatrics 2010 Apr;156(4):679-81
  • 43. Tajima H, Itoh H, Mochizuki A, Nakamura Y, Kobayashi Y, Hirai K, Suzuki K, Sugihara K, Ohishi A, Ohzeki T, Kanayama N. Case of polyhydramnios complicated by Opitz G/BBB syndrome. J Obstet Gynaecol Res. 2010 Aug;36(4):876-81.
  • 44. Sekii K, Ishikawa T, Ogata T, Itoh H, Iwashima S. Fetal myocardial tissue Doppler indices before birth physiologically change in proportion to body size adjusted for gestational age in low-risk term pregnancies. Early Hum Dev. (accepted)
  • 45. Sai S, Nakagawa Y, Yamaguchi R, Suzuki M, Sakaguchi K, Okada S, Seckl JR, Ohzeki T, Chapman KE. Expression of 11beta-hydroxysteroid dehydrogenase 2 contributes to glucocorticoid resistance in lymphoblastic leukemia cells. Leuk Res. 2011 Dec;35(12):1644-8. Epub 2011 Jul 26.
  • 46. Sai S, Watanabe C, Okada S. A rare case of childhood precursor B-cell lymphoblastic lymphoma in the mandible. Leuk Res. 2012 Jan;36(1):e37-8. Epub 2011 Sep 6.
  • 47. Sano S, Nakagawa Y, Yamaguchi R, Fujisawa Y, Satake E, Nagata E, Nakanishi T, Liu YJ, Ohzeki T. Carbenoxolone alters the morphology of adipose tissues and downregulates genes involved in adipogenesis, glucose transport and lipid metabolism in high-fat diet-fed mice. Horm Metab Res. 2012 Jan;44(1):15-20. Epub 2011 Dec 28.
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