Yasukazu Yamada - My portal - researchmap

Profile Information

Affiliation: Divisional Chief, Department of Genetics, Institute for Developmental Research, Aichi Human Service Center

Degree: Doctor of Pharmacy

J-GLOBAL ID: 200901091288803653
researchmap Member ID: 5000000505

Research Interests

6

Research Areas

3

Research History

19

Education

2

- 1976

Department of Manufacturing Pharmacy, Faculty of Pharmaceutical Science, Gifu Pharmaceutical University
- 1976

Faculty of Pharmaceutical Science, Gifu Pharmaceutical University

Misc.

24

Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B.

Neurology, 59: 1637-1640, 2002
Extracellular superoxide dismutase and glomerular cells: its production and regulation.

FEBS Lett, 519: 77-81, 2002
Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features

Kenichiro Yamada, Yasukazu Yamada, Noriko Nomura, Kiyokuni Miura, Rie Wakako, Chiemi Hayakawa, Akiko Matsumoto, Toshiyuki Kumagai, Ikuko Yoshimura, Shuji Miyazaki …

American Journal of Human Genetics, 69(6) 1178-1185, 2001
Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease

Nobuaki Wakamatsu, Yasukazu Yamada, Kenichiro Yamada, Takao Ono, Noriko Nomura, Hiroko Taniguchi, Hiroshi Kitoh, Norihiro Mutoh, Tsutomu Yamanaka, Kyosuke Mushiake …

Nature Genetics, 27(4) 369-370, 2001
Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features

Kenichiro Yamada, Yasukazu Yamada, Noriko Nomura, Kiyokuni Miura, Rie Wakako, Chiemi Hayakawa, Akiko Matsumoto, Toshiyuki Kumagai, Ikuko Yoshimura, Shuji Miyazaki …

American Journal of Human Genetics, 69(6) 1178-1185, 2001
Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease

Nobuaki Wakamatsu, Yasukazu Yamada, Kenichiro Yamada, Takao Ono, Noriko Nomura, Hiroko Taniguchi, Hiroshi Kitoh, Norihiro Mutoh, Tsutomu Yamanaka, Kyosuke Mushiake …

Nature Genetics, 27(4) 369-370, 2001
カレントテラピー、「特集：痛風と高尿酸血症治療の最近の動向」−遺伝的高尿酸血症と痛風。

（株）ライフメディコム、2001
NOとスーパーオキシド-臓器特性と分子病態(井上正康他編)，EC-SODの遺伝子変異と酵素特性

日本アクセル・シュプリンガー出版，1995
プリン代謝におけるヌクレオシドキナーゼに関する研究 (学位論文)

岐阜薬科大学，1984
薬事公衆衛生学（小瀬洋喜編)，2.1.先天性代謝異常 (第2章疫学 - 2.非感染症の疫学)

廣川書店，1986
新生化学講座第15巻「代謝異常」(日本生化学会編)，レッシュナイハン症候群.

東京化学同人，1992
臨床成人病，「特集：痛風と高尿酸血症，トピックス；プリン代謝の分子生物学的進歩］，Lesch-Nyhan症候群の遺伝子診断

東京医学社，1996
Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation.

Hum.Mutat.(2001),18(3):253(Online#443).
Molecular basis for human erythrocyte AMP deaminase deficiency: Screening for the major point mutation and identification of other mutation.

Hum. Mol. Genet. (1994), 3 (12), 2243-2245
Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency.

Hum. Genet. (1992), 90 (4), 379-384
Molecular analysis of a Japanese family with Lesch-Nyhan syndrome: Identification of mutation and prenatal diagnosis.

Clin. Genet. (1996) 50 (9), 164-167
Action of the active metabolites of tiazofurin and ribavirin on purified IMP dehydrogenase.

Biochemistry (1988) 27 (6), 2193-2196
A point mutation responsible for human erythrocyte AMP deaminase deficiency.

Hum. Mol. Genet. (1994), 3 (2), 331-334
Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation.

Hum.Mutat.(2001),18(3):253(Online#443).
Molecular basis for human erythrocyte AMP deaminase deficiency: Screening for the major point mutation and identification of other mutation.

Hum. Mol. Genet. (1994), 3 (12), 2243-2245

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Books and Other Publications

4

HPRT完全欠損症、HPRT部分欠損症．

日本臨牀増刊「高尿酸血症・低尿酸血症-痛風の治療新ガイドライン-」高尿酸血症の臨床．, 2003
先天プリン代謝異常症による高尿酸血症：酵素学的診断、遺伝子診断とスクリーニング法．

日本臨牀増刊「高尿酸血症・低尿酸血症-痛風の治療新ガイドライン-」高尿酸血症の臨床, 2003
AMPデアミナーゼ．

日本臨牀増刊「高尿酸血症・低尿酸血症-痛風の治療新ガイドライン-」, 2003
ヒポキサンチングアニンホスホリボシルトランスフェラーゼ（HPRT）．

日本臨牀増刊「高尿酸血症・低尿酸血症-痛風の治療新ガイドライン-」, 2003

Professional Memberships

10

Research Projects

2