Molecular and biochemical analysis of the severe mental retardation caused by PLEKHA5 or SLC19A3 mutations.

• Project/Area Number: 18390305
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Institute for Developmental Research, Aichi Human Service Center
• Principal Investigator: WAKAMATSU Nobuaki Institute for Developmental Research, Aichi Human Service Center, 遺伝学部, 部長 (60274198)
• Co-Investigator(Kenkyū-buntansha): YAMADA Yasukazu 愛知県心身障害者コロニー発達障害研究所, 遺伝学部, 室長 (70191343)
• Co-Investigator(Renkei-kenkyūsha): YAMADA Kenichirou 愛知県心身障害者コロニー発達障害研究所, 遺伝学部, 主任研究者 (30291173)
• Research Collaborator: MIURA Kiyokuni 愛知県心身障害者コロニー中央病院, 小児神経科 ; KUMAGAI Tosiyuki 愛知県心身障害者コロニーこばと学園, 園長
• Project Period (FY): 2006 – 2009
• Project Status: Completed (Fiscal Year 2009)
• Budget Amount: ¥17,790,000 (Direct Cost: ¥15,000,000、Indirect Cost: ¥2,790,000); Fiscal Year 2008: ¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000); Fiscal Year 2007: ¥6,760,000 (Direct Cost: ¥5,200,000、Indirect Cost: ¥1,560,000); Fiscal Year 2006: ¥5,700,000 (Direct Cost: ¥5,700,000)
• Keywords: 小児神経学 / 精神遅滞 / ノックインマウス / SLC19A3 / サイアミントランスポーター / 知的障害 / 病因遺伝子 / 遺伝子改変マウス

Research Abstract

Mental retardation (MR) is a generalized disorder, characterized by significantly impaired cognitive functioning and deficits in adaptive behaviors with onset before the age of 18. It has been defined as an Intelligence Quotient (IQ) score under 70. Severe mental retardation is diagnosed as IQ is below 34. We have identified the two causal genes of severe mental retardation (PLEHKA5 and SLC19A3). In this project, we studied the biological analysis of two proteins and have made mouse model to understand the molecular mechanism of the diseases.

Research Products

• [Journal Article] Characterization of a de novo balanced t(4; 20)(q33;q12)translocation in a patient with mental retardation (2010)
  • Author(s): Yamada K, Yamada Y, Wakamatsu N, et al.
  • Journal Title: Am J Med Genet (in press)
  • Peer Reviewed
• [Journal Article] Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism (2010)
  • Author(s): Yamada Y, Wakamatsu N, et al.
  • Journal Title: Nucleosides Nucleotides Nucleic Acids (in press)
  • Peer Reviewed
• [Journal Article] Mawatari K, Nakagomi K, Yamada Y, Yamamoto T : Content of purine nucleotides, nucleosides, and bases in purine-rich cauliflower (2010)
  • Author(s): Yamaoka N, Yamada Y, et al.
  • Journal Title: Nucleosides Nucleotides Nucleic Acids (in press)
  • Peer Reviewed
• [Journal Article] Mowat-Wilson Syndrome: facial phenotype changing with age. (2009)
  • Author(s): Garavelli L, Zollino M, Cerruti MP, Gurrieri F, Rivieri F, Soli F, Verri R, Albertini E, Favaron E1, Zignani M, Orteschi D, Bianchi P, Faravelli F, Forzano F, Seri M, Wischmeijer A, Turchetti D, Pompilii E, Gnoli M, Cocchi G, Mazzanti E, Bergamaschi R, De Brasi D, Sperandeo MP, Mari F, Uliana V, Mostardini R, Cecconi M, Grasso M, Sassi S, Sebastio G, Renieri A, Silengo M, Bernasconi S, Wakamatsu N, Neri G
  • Journal Title: Study of 19 Italian patients and review of the othersliterature. 149A Pages: 417-426
• [Journal Article] Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. (2009)
  • Author(s): Lyle R, Bena F, Gagos S, Gehrig C, Lopez G, Schinzel A, Lespinasse J, Bottani A, Dahoun S, Taine L, Doco-Fenzy M, Cornillet-Lefebvre P, Pelet A, Lyonnet S, Toutain A, Colleaux L, Horst J, Kennerknecht I, Wakamatsu N, Descartes M, Franklin JC, Florentin-Arar L, Kitsiou S, Ait Yahya-Graison E, Costantine M, Sinet PM, Delabar JM, Antonarakis SE
  • Journal Title: Eur J Hum Genet 17 Pages: 454-466
• [Journal Article] Mowat-Wilson Syndrome : facial phenotype changing with age. Study of 19 Italian patients and review of the othersliterature (2009)
  • Author(s): Garavelli L, Wakamatsu N, et al.
  • Journal Title: Am J Med Genet 149A Pages: 417-426
  • Peer Reviewed
• [Journal Article] Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21 (2009)
  • Author(s): Lyle R, Wakamatsu N, et al.
  • Journal Title: Eur J Hum Genet 17 Pages: 454-466
  • Peer Reviewed
• [Journal Article] (2009)
  • Author(s): 山田裕一
  • Journal Title: 高尿酸血症と痛風17巻2号「特集:尿酸産生異常の成因」, HPRT欠損症(メディカルレビュー社) Pages: 118-123
• [Journal Article] Molecular analysis of HPRT deficiencies: novel mutations and the spectrum of Japanese mutations. (2008)
  • Author(s): Yamada Y, Nomura N, Yamada K, Wakamatsu N, Kaneko K, Fujimori S
  • Journal Title: Nucleosides Nucleotides Nucleic Acids 27 Pages: 570-574
• [Journal Article] Partial hypoxanthine-guanine phosphoribosyltransferase deficiency due to a newly recognized mutation presenting with renal failure in a one-year-old boy. (2008)
  • Author(s): Ishida Y, Ishimaru A, Tauchi H, Yamaguchi A, Yokoyama M, Hiroi K, Wakamatsu N, Yamada Y
  • Journal Title: Eur J Pediatr 167 Pages: 957-959
• [Journal Article] Mowat-Wilson syndrome affecting 3 siblings. (2008)
  • Author(s): Ohtsuka M, Oguni H, Ito Y, Nakayama T, Matsuo M, Osawa M, Saito K, Yamada Y, Wakamatsu N
  • Journal Title: J Child Neurol 23 Pages: 274-278
• [Journal Article] Molecular analysis of HPRT deficiencies : novel mutations and the spectrum of Jananese mutations (2008)
  • Author(s): Yamada Y, Wakamatsu N, et al.
  • Journal Title: Nucleosides Nucleotides Nucleic Acids 27 Pages: 570-574
  • Peer Reviewed
• [Journal Article] Partial hypoxanthine-guanine phosphoribosyltransferase deficiency due to a newly recognized mutation presenting with renal failure in a one-year-old boy (2008)
  • Author(s): Ishida Y, Wakamatsu N, Yamada Y, et al.
  • Journal Title: Eur J Pediatr 167 Pages: 957-959
  • Peer Reviewed
• [Journal Article] Mowat-Wilson syndrome affecting 3 siblings (2008)
  • Author(s): Ohtsuka M, Yamada Y, Wakamatsu N, et al.
  • Journal Title: J Child Neurol 23 Pages: 274-278
  • Peer Reviewed
• [Journal Article] (2008)
  • Author(s): 山田裕一
  • Journal Title: 日本臨牀66巻4号「特集:高尿酸血症・痛風Update」, HPRT欠損症(日本臨牀社) Pages: 687-693
• [Journal Article] Molecular analysis of HPRT deficiencies:novel mutations and the spectrum of Japanese mutations. (2008)
  • Author(s): Yamada Y, Nomura N, Yamada K, Wakamatsu N, Kaneko K, Fujimori S
  • Journal Title: Nucleosides Nucleotides and Nucleic Acids (in press)
  • Peer Reviewed
• [Journal Article] Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations. (2007)
  • Author(s): Yamada Y, Nomura N, Yamada K, Wakamatsu N
  • Journal Title: Mol Genet Metab 90 Pages: 70-76
• [Journal Article] HPRT欠損症の遺伝子解析:新たな6変異とアジア人変異の総括. (2007)
  • Author(s): 山田裕一, 野村紀子, 若松延昭
  • Journal Title: 痛風と核酸代謝 31 Pages: 31-40
  • NAID: 10019737160
• [Journal Article] 見えない染色体異常-染色体構築と分配機構の異常による先天性疾患 (2007)
  • Author(s): 小野教夫, 木村礼子, 山田憲一郎, 若松延昭
  • Journal Title: 実験医学 25 Pages: 776-781
• [Journal Article] Partial hypoxanthine-guanine phosphoribosyltransferase deficiency due to a newly recognized mutation presenting with renal failure in a one-year-old boy. (2007)
  • Author(s): Ishida Y, Ishimaru A, Tauchi H, Yamaguchi A, Yokoyama M, Hiroi K, Wakamatsu N, Yamada Y
  • Journal Title: Eur J Pediatr (Epub ahead of print)
  • Peer Reviewed
• [Journal Article] HPRT 欠損症の遺伝子解析:新たな6変異とアジア人変異の総括. (2007)
  • Author(s): 山田裕一,野村紀子,若松延昭
  • Journal Title: 痛風と核酸代謝 31(1) Pages: 31-40
  • NAID: 10019737160
  • Peer Reviewed
• [Journal Article] Molecular analysis of HPRT deficiencies : An update of the spectrum of Asian mutations with novel mutations. (2007)
  • Author(s): Yamada Y, et al.
  • Journal Title: Molecular Genetics and Metabolism 90 Pages: 70-76
• [Journal Article] Monopolar preparation of human lymphoblastoid cells for evaluation of the metaphase chromosome alignment. (2007)
  • Author(s): Kimura R, et al.
  • Journal Title: Chromosome Science (in press)
• [Journal Article] 見えない染色体異常-染色体構築と分配機構の異常による先天性疾患 (2007)
  • Author(s): 小野教夫, ら
  • Journal Title: 実験医学 増刊 25巻 5号 Pages: 204-209
• [Journal Article] Monopolar preparation of human lymphocytes for evaluation of the metaphase chromosome alignment. (2006)
  • Author(s): Kimura R, Takeshima K, Mizuno S, Kosaki K, Machida J, Kamamoto M, Muro Y, Shimosato K, Wakamatsu N, Sonta S, OnoT
  • Journal Title: Chromosome Science 9 Pages: 75-83
  • NAID: 110006366871
• [Journal Article] Two cases of partial trisomy 21 (pter-q22. 1) without the major features of Down syndrome. (2006)
  • Author(s): Kondo Y, Mizuno S, Ohara K, Nakamura T, Yamada K, Yamamori S, Hayakawa C, Ishii T, Yamada Y, Wakamatsu N
  • Journal Title: Am J Med Genet 140A Pages: 227-232
• [Journal Article] Characterization of a de novo balanced t(4;20)(q33;q12) translocation in a patient with mental retardation.
  • Author(s): Yamada K, Fukushi D, Ono T, Kondo Y1 Kimura R, Nomura N, Kosaki K, Yamada Y, Mizuno S, Wakamatsu N
  • Journal Title: Am J Med Genet A (in press)
• [Journal Article] Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.
  • Author(s): Yamada Y, Yamada K, Nomura N, Yamano A, Kimura R, Tomida S, Naiki M, Wakamatsu N
  • Journal Title: Nucleosides Nucleotides Nucleic Acids 29(in press)
• [Journal Article] Content of purine nucleotides, nucleosides, and bases in purine-rich cauliflower.
  • Author(s): Yamaoka N, Kaneko K, Kudo Y, Aoki M, Yasuda M, Mawatari K, Nakagomi K, Yamada Y, Yamamoto T
  • Journal Title: Nucleosides Nucleotides Nucleic Acids 29(in press)
• [Presentation] ダウン症候群における血清尿酸値の検討 (2010)
  • Author(s): 村松友佳子, 山田裕一, 若松延昭, 久保田優
  • Organizer: 日本痛風・核酸代謝学会
  • Place of Presentation: 大阪
  • Year and Date: 2010-02-25
• [Presentation] Characterization of CHD 6 associate proteins at mitosis. (2009)
  • Author(s): Yamada K, Fukushi D, Kimura R, Yamada Y, Wakamatsu N.
  • Organizer: 日本分子生物学会年会
  • Place of Presentation: 横浜
  • Year and Date: 2009-12-09
• [Presentation] Characterization of CHD 6 associate proteins at mitosis (2009)
  • Author(s): Yamada K, Yamada Y, Wakamatsu N, et al.
  • Organizer: 日本分子生物学会年会
  • Place of Presentation: 横浜
  • Year and Date: 2009-12-09
• [Presentation] 末梢神経障害を伴った先天性副甲状腺機能低下症姉弟例の遺伝子解析. (2009)
  • Author(s): 内木美紗子, 山田憲一郎, 山田裕一, 木村礼子, 熊谷俊幸, 若松延昭
  • Organizer: 日本生化学会大会(東京)
  • Year and Date: 2009-10-24
• [Presentation] 末梢神経障害を伴った先天性副甲状腺機能低下症姉弟例の遺伝子解析 (2009)
  • Author(s): 内木美紗子, 山田裕一, 若松延昭, ら
  • Organizer: 日本生化学会大会
  • Place of Presentation: 東京
  • Year and Date: 2009-10-24
• [Presentation] Molecular analysis of two enzymes, HPRT and PRPP synthetase, causing X-linked inborn errors of purine metabolism. (2009)
  • Author(s): Yamada Y, Yamada K, Yamano A, Nomura N, Wakamatsu N
  • Organizer: Annual Meeting of the American Society of Human Genetics
  • Place of Presentation: Honolulu, USA
  • Year and Date: 2009-10-23
• [Presentation] 血液透析患者におけるLDL結合型血清アミロイドA(SAA)蛋白の増加と栄養状態の関連. (2009)
  • Author(s): 山田晴生, 北川渡, 鈴木信吉, 河合浩寿, 岸泰子, 上村裕子, 木村行宏, 宮本敢右, 鈴木奈津子, 前田邦博1, 青山龍平, 山口諭, 鈴木啓介, 管憲広, 渡辺一司, 三浦直人, 西川和裕, 山村昌弘, 今井裕一, 足立哲夫, 山田裕一
  • Organizer: 腎とフリーラジカル研究会
  • Place of Presentation: 岡山
  • Year and Date: 2009-09-26
• [Presentation] 末梢神経障害を伴った先天性副甲状腺機能低下症姉弟例の遺伝子解析 (2009)
  • Author(s): 内木美紗子, 山田憲一郎, 山田裕一, 木村礼子, 熊谷俊幸, 若松延昭
  • Organizer: 日本人類遺伝学会
  • Place of Presentation: 東京
  • Year and Date: 2009-09-25
• [Presentation] X連鎖性プリン代謝異常症に関わる2酵素遺伝子(HPRT1, PRPS1)の変異解析 (2009)
  • Author(s): 山田裕一, 若松延昭, ら
  • Organizer: 日本人類遺伝学会
  • Place of Presentation: 東京
  • Year and Date: 2009-09-25
• [Presentation] X連鎖性プリン代謝異常症に関わる2酵素遺伝子(HPRT1, PRPS1)の変異解析. (2009)
  • Author(s): 山田裕一, 山農亜里佐, 野村紀子, 木村礼子, 山田憲一郎, 若松延昭
  • Organizer: 日本人類遺伝学会
  • Place of Presentation: 東京
  • Year and Date: 2009-09-24
• [Presentation] Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism. (2009)
  • Author(s): Yamada Y, Nomura N, Yamano A, Yamada K, Wakamatsu N
  • Organizer: 13th International Symposium on Purine and Pyrimidine Metabolism in Man
  • Place of Presentation: Stockholm, Sweden
  • Year and Date: 2009-06-22
• [Presentation] Contents of purine and pyrimidine nucleotides, nucleosides and bases in a purine-rich vegetable, a Cauliflower. (2009)
  • Author(s): Yamaoka N, Kudo Y, Yasuda M, Mawatari K, Nakagomi K, Yamada Y, Yamamoto T, Kaneko K
  • Organizer: 13th International Symposium on Purine and Pyrimidine Metabolism in Man
  • Place of Presentation: Stockholm, Sweden
  • Year and Date: 2009-06-22
• [Presentation] Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism (2009)
  • Author(s): Yamada Y, Wakamatsu N, et al.
  • Organizer: 13^<th> International Symposium on Purine and Pyrimidine Metabolism in Man
  • Place of Presentation: Stockholm(Sweden)
  • Year and Date: 2009-06-22
• [Presentation] Lesch-Nyhan症候群の1例. (2009)
  • Author(s): 口脇賀治代, 阿部直紀, 沼田真一郎, 梶田光春, 吉田修一朗, 三浦清邦, 山田裕一, 若松延昭
  • Organizer: 日本小児科学会東海地方会
  • Place of Presentation: 名古屋
  • Year and Date: 2009-02-22
• [Presentation] Lesch-Nyhan 症候群の1例 (2009)
  • Author(s): 口脇賀治代, 山田裕一, 若松延昭, ら
  • Organizer: 日本小児科学会東海地方会
  • Place of Presentation: 名古屋
  • Year and Date: 2009-02-22
• [Presentation] 先天性プリン代謝異常症に関わる2酵素(HPRT, PRPPS)の遺伝子解析. (2009)
  • Author(s): 山田裕一, 若松延昭
  • Organizer: 日本痛風・核酸代謝学会
  • Place of Presentation: 東京
  • Year and Date: 2009-02-19
• [Presentation] 先天性プリン代謝異常症に関わる2酵素(HPRT, PRPPS)の遺伝子解析 (2009)
  • Author(s): 山田裕一, 若松延昭
  • Organizer: 日本痛風・核酸代謝学会
  • Place of Presentation: 東京
  • Year and Date: 2009-02-19
• [Presentation] 発達遅滞を主訴に来院した7か月男児の1例. (2009)
  • Author(s): 口脇賀治代, 阿部直紀, 沼田真一郎, 梶田光春, 吉田修一朗, 三浦清邦, 山田裕一, 若松延昭
  • Organizer: 豊田加茂小児科医会例会
  • Place of Presentation: 豊田
  • Year and Date: 2009-02-14
• [Presentation] 発達遅滞を主訴に来院した7か月男児の1例 (2009)
  • Author(s): 口脇賀治代, 山田裕一, 若松延昭, ら
  • Organizer: 豊田加茂小児科医会例会
  • Place of Presentation: 豊田
  • Year and Date: 2009-02-14
• [Presentation] Identification and characterization of the duplicated genes in a family with Xq28 duplication syndrome. (2008)
  • Author(s): 山田憲一郎, 福士大輔, 木村礼子, 山田裕一, 若松延昭
  • Organizer: 日本生化学会日本分子生物学会合同大会
  • Place of Presentation: 神戸
  • Year and Date: 2008-12-11
• [Presentation] Identification and characterization of the duplicated genes in a family with Xq28 duplication syndrome (2008)
  • Author(s): 山田憲一郎, 山田裕一, 若松延昭, ら
  • Organizer: 日本生化学会日本分子生物学会合同大会
  • Place of Presentation: 神戸
  • Year and Date: 2008-12-11
• [Presentation] 新生児・乳幼児に発症する良性の家族性けいれんの遺伝子解析. (2008)
  • Author(s): 山田裕一, 三浦清邦, 鈴木基正, 熊谷俊幸, 松本昭子, 野村紀子, 山農亜里佐, 山田憲一郎, 若松延昭
  • Organizer: 日本生化学会日本分子生物学会合同大会
  • Place of Presentation: 神戸
  • Year and Date: 2008-12-09
• [Presentation] 新生児・乳幼児に発症する良性の家族性けいれんの遺伝子解析 (2008)
  • Author(s): 山田裕一, 若松延昭, ら
  • Organizer: 日本生化学会日本分子生物学会合同大会
  • Place of Presentation: 神戸
  • Year and Date: 2008-12-09
• [Presentation] 新生児・乳幼児に発症する良性の家族性けいれんの遺伝子変異解析 (2008)
  • Author(s): 山田裕一, 三浦清邦, 鈴木基正, 熊谷俊幸, 松本昭子, 野村紀子, 山農亜里佐, 山田憲一郎, 若松延昭
  • Organizer: 日本人類遺伝学会
  • Place of Presentation: 横浜
  • Year and Date: 2008-09-29
• [Presentation] 新生児・乳幼児に発症する良性の家族性けいれんの遺伝子解析 (2008)
  • Author(s): 山田裕一, 若松延昭, ら
  • Organizer: 日本人類遺伝学会
  • Place of Presentation: 横浜
  • Year and Date: 2008-09-29
• [Presentation] 免疫抑制剤ミゾリビンの細胞周期・フリーラジカル産生に及ぼす影響. (2008)
  • Author(s): 山田晴生, 山田裕一, 若松延昭, 宮本敢右, 木村行宏, 鹿島悠佳理, 竹澤有美子, 前田邦博, 水野奈津子, 青山龍平, 森由貴, 若松亮, 山口諭, 管憲広, 渡辺一司, 北川渡, 三浦直人, 西川和裕, 普天間新生, 今井裕一
  • Organizer: 腎とフリーラジカル研究会
  • Place of Presentation: 大阪
  • Year and Date: 2008-09-20
• [Presentation] 免疫抑制剤ミゾリビンの細胞周期・フリーラジカル産生に及ぼす影響 (2008)
  • Author(s): 山田晴生, 山田裕一, 若松延昭, ら
  • Organizer: 腎とフリーラジカル研究会
  • Place of Presentation: 大阪
  • Year and Date: 2008-09-20
• [Presentation] Mowat-Wilson症候群の1例. (2008)
  • Author(s): 平木洋子, 坪倉ひふみ, 夜船展子, 山田裕一, 若松延昭
  • Organizer: 日本小児神経学会中国・四国地方会
  • Place of Presentation: 岡山
  • Year and Date: 2008-07-26
• [Presentation] Mowat-Wilson 症候群の1例 (2008)
  • Author(s): 平木洋子, 山田裕一, 若松延昭, ら
  • Organizer: 日本小児神経学会中国・四国地方会
  • Place of Presentation: 大阪
  • Year and Date: 2008-07-26
• [Presentation] 免疫抑制剤ミゾリビンの細胞周期に及ぼす影響. (2008)
  • Author(s): 山田晴生, 山田裕一, 若松延昭, 宮本敢右, 木村行宏, 鹿島悠佳理, 竹澤有美子, 前田邦博, 水野奈津子, 青山龍平, 森由貴, 若松亮, 山口諭, 管憲広, 渡辺一司, 北川渡, 三浦直人, 西川和裕, 普天間新生, 今井裕一
  • Organizer: 日本痛風・核酸代謝学会総会
  • Place of Presentation: 福井
  • Year and Date: 2008-02-14
• [Presentation] Lesch-Nyhan症候群の細胞診断の有用性について (2008)
  • Author(s): 谷口敦夫, 箱田雅之, 関田千恵子, 藤森新, 山田裕一, 浦野和子, 山中寿, 鎌谷直之
  • Organizer: 日本痛風・核酸代謝学会総会
  • Place of Presentation: 福井
  • Year and Date: 2008-02-14
• [Presentation] HPRT欠損症における遺伝子解析:新遺伝子変異と日本人変異の総括. (2007)
  • Author(s): 山田裕一, 野村紀子, 山田憲一郎, 若松延昭, 金子希代子, 藤森新:
  • Organizer: 日本分子生物学会年会/日本生化学会大会合同大会
  • Place of Presentation: 横浜
  • Year and Date: 2007-12-13
• [Presentation] CHD proteins are associated with chromatin assembly. (2007)
  • Author(s): 山田憲一郎, 小野教夫, 近藤容子, 木村礼子, 野村紀子, 小崎健次郎, 山田裕一, 水野誠司, 若松延昭
  • Organizer: 日本分子生物学会年会/日本生化学会大会合同大会
  • Place of Presentation: 横浜
  • Year and Date: 2007-12-12
• [Presentation] Extracellular superoxide dismutase production from dialysis fluid in peritomeal dialysis and culture fibroblast under tochoferol exposure. (2007)
  • Author(s): Yamada H, Adachi T, Yamada Y, Kimura Y, Miyamoto K, Aoyama R, Kashima Y, Takezawa Y, Maeda K, Mizuno N, Yoshino M, Wakamatsu R, Mori Y, Yamaguchi S, Suga N, Watanabe H, Kitagawa W, Miura N, Nishikawa K, Futenma A, Imai H
  • Organizer: The Asian Chapter Meeting of International Society for Peritoneal Dialysis
  • Place of Presentation: Hiroshima
  • Year and Date: 2007-11-23
• [Presentation] Disorders in chromosome assembly: new chromosomal aberrations associated with human congenital diseases. (2007)
  • Author(s): Ono T, Kimura R, Yamada K, Sonta S, Wakamatsu N
  • Organizer: The International Symposium on Chromosomal Aberrations
  • Place of Presentation: Awaji
  • Year and Date: 2007-10-05
• [Presentation] 培養平滑筋細胞・メサンギウム細胞のExtracellular-Superoxide Dismutase産生. (2007)
  • Author(s): 山田晴生, 足立哲夫, 山田裕一, 宮本敢右, 木村行宏, 鹿島悠佳理, 竹澤有美子, 前田邦博, 水野奈津子, 森由貴, 青山龍平, 吉野雅人, 若松亮, 山口諭, 管憲広, 渡辺一司, 北川渡, 三浦直人, 西川和裕, 普天間新生, 今井裕一
  • Organizer: 腎とフリーラジカル研究会
  • Place of Presentation: 浜松
  • Year and Date: 2007-09-29
• [Presentation] 精神発達遅滞を伴ったChar症候群. (2007)
  • Author(s): 平林優, 水野誠司, 山田憲一郎, 福士大輔, 木村礼子, 中田智彦, 鈴木基正, 熊谷俊幸, 山田裕一, 若松延昭
  • Organizer: 日本人類遺伝学会
  • Place of Presentation: 東京
  • Year and Date: 2007-09-13
• [Presentation] 新生児・乳児期に発症する良性の家族性けいれんの遺伝子解析. (2007)
  • Author(s): 山田裕一, 野村紀子, 山田憲一郎, 三浦清邦, 熊谷俊幸, 松本昭子, 若松延昭
  • Organizer: 日本人類遺伝学会
  • Place of Presentation: 東京
  • Year and Date: 2007-09-13
• [Presentation] Sandhoff病の一例. (2007)
  • Author(s): 阿部直紀, 口脇賀治代, 吉田修一朗, 石原尚子, 中西久美子, 梶田光春, 東慶輝, 山田憲一郎, 山田裕一, 若松延昭
  • Organizer: 日本小児科学会東海地方会
  • Place of Presentation: 名古屋
  • Year and Date: 2007-08-05
• [Presentation] 染色体を用いた先天異常の診断法の進歩.シンポジウム1「先天異常の診断法と治療法の進歩」 (2007)
  • Author(s): 若松延昭
  • Organizer: 日本先天異常学会学術集会
  • Place of Presentation: 名古屋
  • Year and Date: 2007-07-07
• [Presentation] 乳児期におけるLesch-Nyhan症候群の発達について. (2007)
  • Author(s): 小沢浩, 有本潔, 実谷哲史, 久保田雅也, 山田裕一
  • Organizer: 日本小児神経学会総会
  • Place of Presentation: 大阪
  • Year and Date: 2007-07-07
• [Presentation] Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: novel mutations and the spectrum of Japanese mutations. (2007)
  • Author(s): Yamada Y, Nomura N, Yamada K, Wakamatsu N, Kaneko K, Fujimori S
  • Organizer: 12th International Symposium on Purine and Pyrimidine Metabolism in Man
  • Place of Presentation: Chicago, USA
  • Year and Date: 2007-06-26
• [Presentation] Molecular analysis of hypoxanthine guanine phosphoribosyltransferase(HPRT)deficiencies : novel mutations and the spectrum of Japanese mutations. (2007)
  • Author(s): Yamada Y, Nomura N, Yamada K, Wakamatsu N, Kaneko K, Fujimori S
  • Organizer: 12thInternational Symposium on Purine and Pyrimidine Metabolism in Man
  • Place of Presentation: Chicago,USA
  • Year and Date: 2007-06-26
• [Presentation] Molecular analysis of HPRT deficiencies: novel mutations and the spectrum of Japanese mutations. (2007)
  • Author(s): Yamada Y, Nomura N, Yamada K, Wakamatsu N, Kaneko K, Fujimori S
  • Organizer: Pre-symposium: Lesch-Nyhan Disease Research Foundation
  • Place of Presentation: Chicago, USA
  • Year and Date: 2007-06-24
• [Presentation] 血液透析・CAPD療法中Extracellular-Superoxide Dismutase産生の誘導. (2007)
  • Author(s): 山田晴生, 足立哲夫, 山田裕一, 若松亮, 鹿島悠佳里, 竹澤有美子, 前田邦博, 水野奈津子, 青山龍平, 吉野雅文, 森由貴, 渡辺一司, 北川渡, 三浦直人, 佐久間正人, 西川和裕, 普天間新生, 今井裕一
  • Organizer: 日本腎臓学会学術総会
  • Place of Presentation: 浜松
  • Year and Date: 2007-05-25
• [Presentation] プリン代謝系酵素の酵素化学的研究および遺伝子解析(学会賞受賞講演). (2007)
  • Author(s): 山田裕一
  • Organizer: 日本痛風・核酸代謝学会
  • Place of Presentation: 東京
  • Year and Date: 2007-02-15
• [Presentation] レット症候群様症状を伴いサブテロメア染色体異常を呈した一男児例 (2006)
  • Author(s): 渡邊淳, 桑原健太郎, 右田真, 渡辺裕子, 藤野修, 山田裕一, 島田隆
  • Organizer: 日本小児遺伝学会
  • Place of Presentation: 米子
  • Year and Date: 2006-10-21
• [Presentation] HPRT欠損症の遺伝子解析:新たな6変異とアジア人変異の総括. (2006)
  • Author(s): 山田裕一, 野村紀子, 山田憲一郎, 渡辺浩史, 加治正行, 石田也寸志, 安達昌功, 若松延昭
  • Organizer: 日本人類遺伝学会
  • Place of Presentation: 米子
  • Year and Date: 2006-10-18
• [Presentation] 特異な臨床症状を呈する2q37. 3微細欠失の一例. (2006)
  • Author(s): 水野誠司, 林深, 井本逸勢, 小野教夫, 山田憲一郎, 山田裕一, 若松延昭, 稲津譲治
  • Organizer: 日本人類遺伝学会
  • Place of Presentation: 米子
  • Year and Date: 2006-10-18
• [Presentation] 単極性染色体整列検索による染色体の構築と分離に異常をもつ疾患群の診断. (2006)
  • Author(s): 木村礼子, 水野誠司, 鈴木淑子, 熊谷俊幸, 吉田太, 竹島京子, 町田純一郎, 釜本宗史, 若松延昭, 孫田信一, 小野教夫
  • Organizer: 日本人類遺伝学会
  • Place of Presentation: 米子
  • Year and Date: 2006-10-18
• [Presentation] 腹腔内Extracellular-superoxide dismutase産生の誘導. (2006)
  • Author(s): 山田晴生, 足立哲夫, 山田裕一, 尾関教生, 山口諭, 管憲広, 鈴木啓介, 渡辺一司, 北川渡, 三浦直人, 佐久間正人, 西川和裕, 普天間新生, 今井裕一
  • Organizer: 腎とフリーラジカル研究会
  • Place of Presentation: つくば
  • Year and Date: 2006-09-23
• [Presentation] Molecular analysis of HPRT deficiencies: six novel mutations and the spectrum of Asian mutations. (2006)
  • Author(s): Yamada Y, Nomura N, Yamada K, Wakamatsu N
  • Organizer: IUBMB International Congress of Biochemistry and Molecular Biology
  • Place of Presentation: Kyoto
  • Year and Date: 2006-06-21
• [Presentation] Sip1 plays an important role in neurite extensions of embryonic neurons. (2006)
  • Author(s): Yamada K, Nakanishi, Ishihara N, Nomura N, Yamada Y, Oohira A, Wakamatsu N
  • Organizer: IUBMB International Congress of Biochemistry and Molecular Biology
  • Place of Presentation: Kyoto
  • Year and Date: 2006-06-20
• [Presentation] 遺伝性低尿酸血症の臨床経過と遺伝子解析. (2006)
  • Author(s): 山田晴生, 山田裕一, 市田公美, 森由貴, 青山龍一, 吉野雅文, 鈴木啓介, 渡辺一司, 北川渡, 三浦直人, 佐久間正人, 西川和裕, 今井裕一
  • Organizer: 日本腎臓学会学術総会
  • Place of Presentation: 東京
  • Year and Date: 2006-06-15
• [Book] 小児科診療-増刊号「特集小児の治療指針」, 核酸代謝異常(Lesch-Nyhan 症候群など) (2010)
  • Author(s): 山田裕一
  • Publisher: 診断と治療社(印刷中)
• [Book] 高尿酸血症と痛風(HPRT欠損症「特集:尿酸産生異常の成因」, 17) (2009)
  • Author(s): 山田裕一
• [Book] 日本臨牀(HPRT欠損症「特集:高尿酸血症・痛風Update」, 66) (2008)
  • Author(s): 山田裕一
• [Book] 腎とフリーラジカル(培養平滑筋細胞・メサンギウム細胞のExtracellular-Superoxide Dismutase産生, 第9集) (2008)
  • Author(s): 山田晴生, 山田裕一, 足立哲夫, 宮本敢右, 木村行宏, 鹿島悠佳理, 竹澤有美子, 前田邦博, 水野奈津子, 森由貴, 青山龍平, 吉野雅人, 若松亮, 山口諭, 管憲広, 渡辺一司, 北川渡, 三浦直人, 西川和裕, 普天間新生, 今井裕一
  • Publisher: 東京医学社
• [Book] 腎とフリーラジカル(腹腔内Extracellular-superoxide dismutase産生の誘導, 第9集) (2008)
  • Author(s): 山田晴生, 足立哲夫, 山田裕一, 宮本敢右, 木村行宏, 鹿島悠佳理, 竹澤有美子, 前田邦博, 水野奈津子, 森由貴, 青山龍平, 吉野雅人, 若松亮, 山口諭, 管憲広, 渡辺一司, 北川渡, 三浦直人, 西川和裕, 普天間新生, 今井裕一
  • Publisher: 東京医学社
• [Book] 痛風と核酸代謝(プリン代謝系酵素の酵素化学的研究および遺伝子解析) (2007)
  • Author(s): 山田裕一
• [Book] 実験医学(見えない染色体異常-染色体構築と分配機構の異常による先天性疾患) (2007)
  • Author(s): 小野教夫, 木村礼子, 山田憲一郎, 若松延昭
• [Book] Genetic Errors Associated with Purine and Pyrimidine Metabolism in Humans: Diagnosis and Treatment(Moriwaki Y ed, Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency.) (2006)
  • Author(s): Yamada Y, Wakamatsu N
  • Publisher: Research Signpost, Kerala
• [Book] 医学のあゆみ別冊, 酸化ストレス(吉川敏一編, 細胞外型Cu, Zn-Superoxide dismutaseと慢性腎不全) (2006)
  • Author(s): 山田晴生, 足立哲夫, 山田裕一, 今井裕一
• [Book] 腎とフリーラジカル(CAPD療法での腹腔内Extracellular Superoxide Dismutase産生, 第8集) (2006)
  • Author(s): 山田晴生, 山田裕一, 足立哲夫, 吉野雅文1, 渡辺一司, 北川渡, 西川和裕, 普天間新生, 今井裕一
• [Book] 血液透析患者の血清抗malondialdehyde-modified LDL (MDA-LDL)抗体とその意義. 腎とフリーラジカル第8集 (2006)
  • Author(s): 山田晴生, 足立哲夫, 山田裕一, 森由貴, 青山龍平, 三浦直人, 佐久間正人, 西川和裕, 普天間新生, 今井裕一
• [Book] 小児科診療-増刊号「特集小児の治療指針」(核酸代謝異常(Lesch-Nyhan症候群など))
  • Author(s): 山田裕一
  • Publisher: (印刷中)
• [Remarks] ホームページ等発達障害研究所
  • URL: http://www.inst-hsc.jp/