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1

Molecular Analysis of Hypoxanthine Guanine Phosphoribosyltransferase (HPRT) Deficiencies: Novel Mutations and the Spectrum of Japanese Mutations

Yamada, Yasukazu, Nomura, Noriko, Yamada, Kenichro, Wakamatsu, Nobuaki, Kaneko, Kiyoko, Fujimori, Shin

Journal:

Nucleosides Nucleotides & Nucleic Acids

Year:

2008

Language:

english

File:

PDF, 67 KB

english, 2008

2

Two cases of partial trisomy 21 (pter-q22.1) without the major features of Down syndrome

Yoko Kondo, Seiji Mizuno, Kei Ohara, Takeshi Nakamura, Kenichiro Yamada, Shunji Yamamori, Chiemi Hayakawa, Takashi Ishii, Yasukazu Yamada, Nobuaki Wakamatsu

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 229 KB

english, 2006

3

Effect of NiO content in mesoporous NiO–Al2O3 catalysts for high pressure partial oxidation of methane to syngas

Yasukazu Kobayashi, Junpei Horiguchi, Seishiro Kobayashi, Yuichiro Yamazaki, Kohji Omata, Daisuke Nagao, Mikio Konno, Muneyoshi Yamada

Journal:

Applied Catalysis A: General

Year:

2011

Language:

english

File:

PDF, 1.46 MB

english, 2011

4

Molecular analysis of extracellular-superoxide dismutase gene associated with high level in serum

Harutaka Yamada, Yasukazu Yamada, Tetsuo Adachi, Haruko Goto, Nobuaki Ogasawara, Arao Futenma, Mitsuru Kitano, Kazuyuki Hirano, Katsumi Kato

Journal:

Journal of Human Genetics

Year:

1995

Language:

english

File:

PDF, 538 KB

english, 1995

5

Clinical variability in a Japanese hereditary lymphedema type I family with an FLT4 mutation

Seiji Mizuno, Yasukazu Yamada, Kenichiro Yamada, Noriko Nomura, Nobuaki Wakamatsu

Journal:

Congenital Anomalies

Year:

2005

Language:

english

File:

PDF, 115 KB

english, 2005

6

Capsular tension ring use in a patient with congenital coloboma of the lens

Hidenobu Mizuno, Jun Yamada, Masatoshi Nishiura, Hiroaki Takahashi, Yasukazu Hino, Hirofumi Miyatani

Journal:

Journal of Cataract & Refractive Surgery

Year:

2004

Language:

english

File:

PDF, 263 KB

english, 2004

7

Clinical characterization and identification of duplication breakpoints in a Japanese family with Xq28 duplication syndrome including MECP2

Fukushi, Daisuke, Yamada, Kenichiro, Nomura, Noriko, Naiki, Misako, Kimura, Reiko, Yamada, Yasukazu, Kumagai, Toshiyuki, Yamaguchi, Kumiko, Miyake, Yoshishige, Wakamatsu, Nobuaki

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 2.08 MB

english, 2014

8

Urinary Stone Analysis in a Patient with Hyperuricemia to Determine the Mechanism of Stone Formation

Kaneko, Kiyoko, Yoshida, Norifumi, Okazaki, Keitaro, Yamanobe, Tomoyo, Yamaoka, Noriko, Yasuda, Makoto, Ogata, Nobuyuki, Yamada, Yasukazu, Uchida, Shunya, Fujimori, Shin

Journal:

Nucleosides Nucleotides & Nucleic Acids

Year:

2011

Language:

english

File:

PDF, 162 KB

english, 2011

9

Association Between KCNJ6 (GIRK2) Gene Polymorphism rs2835859 and Post-operative Analgesia, Pain Sensitivity, and Nicotine Dependence

Nishizawa, Daisuke, Fukuda, Ken-ichi, Kasai, Shinya, Ogai, Yasukazu, Hasegawa, Junko, Sato, Naomi, Yamada, Hidetaka, Tanioka, Fumihiko, Sugimura, Haruhiko, Hayashida, Masakazu, Ikeda, Kazutaka

Journal:

Journal of Pharmacological Sciences

Year:

2014

Language:

english

File:

PDF, 543 KB

english, 2014

10

Primary enteric-type tubulovillous adenocarcinoma arising in the renal pelvis

Shioya, Akihiro, Saito, Katsuhiko, Kurose, Nozomu, Takase, Yasukazu, Kodama, Koichi, Minato, Hiroshi, Nojima, Takayuki, Yamada, Sohsuke

Journal:

Pathology International

Year:

2018

Language:

english

File:

PDF, 361 KB

english, 2018

11

A rare case of complete human erythrocyte AMP deaminase deficiency due to two novel missense mutations in AMPD3

Yasukazu Yamada, Haruko Goto, Nobuaki Wakamatsu, Nobuaki Ogasawara

Journal:

Year:

2001

Language:

english

File:

PDF, 39 KB

english, 2001

12

Characterization of a de novo balanced t(4;20)(q33;q12) translocation in a patient with mental retardation

Kenichiro Yamada, Daisuke Fukushi, Takao Ono, Yoko Kondo, Reiko Kimura, Noriko Nomura, Ken-jiro Kosaki, Yasukazu Yamada, Seiji Mizuno, Nobuaki Wakamatsu

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 358 KB

english, 2010

13

Clinical and genomic characterization of siblings with a distal duplication of chromosome 9q (9q34.1-qter)

Seiji Mizuno, Daisuke Fukushi, Reiko Kimura, Kenichiro Yamada, Yasukazu Yamada, Toshiyuki Kumagai, Nobuaki Wakamatsu

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 3.75 MB

english, 2011

14

MBTPS2 mutation causes BRESEK/BRESHECK syndrome

Misako Naiki, Seiji Mizuno, Kenichiro Yamada, Yasukazu Yamada, Reiko Kimura, Makoto Oshiro, Nobuhiko Okamoto, Yoshio Makita, Mariko Seishima, Nobuaki Wakamatsu

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 327 KB

english, 2012

15

Disruption of the Hypoxanthine-Guanine Phosphoribosyl-Transferase Gene Caused by a Translocation in a Patient with Lesch—Nyhan Syndrome

Makiko Mizunuma, Yasukazu Yamada, Kenichiro Yamada, Shin-Ichi Sonta, Nobuaki Wakamatsu, Kiyoko Kaneko, Nobuaki Ogasawara, Shin Fujimori

Journal:

Year:

2005

File:

PDF, 9 KB

2005

16

Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation

Yasukazu Yamada, Kiyokuni Miura, Toshiyuki Kumagai, Chiemi Hayakawa, Shuji Miyazaki, Akiko Matsumoto, Kenji Kurosawa, Noriko Nomura, Hiroko Taniguchi, Shin-Ichi Sonta, Tsutomu Yamanaka, Nobuaki Wakama

Journal:

Year:

2001

Language:

english

File:

PDF, 90 KB

english, 2001

17

Distribution of amp deaminase isozymes in various human blood cells

Nobuaki Ogasawara, Haruko Goto, Yasukazu Yamada, Tomomasa Watanabe

Journal:

International Journal of Biochemistry

Year:

1984

Language:

english

File:

PDF, 431 KB

english, 1984

18

T-lymphoblast-specific nucleoside kinase: Characterization and comparison with deoxycytydine kinase

Yamada Yasukazu, Goto Harliko, Ogasawara Nobuaki

Journal:

International Journal of Biochemistry

Year:

1985

Language:

english

File:

PDF, 325 KB

english, 1985

19

Inhibition by aluminum ion of NAD- and NADP-dependent isocitrate dehydrogenases from yeast

Yoshino Masataka, Yamada Yasukazu, Murakami Keiko

Journal:

International Journal of Biochemistry

Year:

1992

Language:

english

File:

PDF, 402 KB

english, 1992

20

Mesoporous NiO–Al2O3 catalyst for high pressure partial oxidation of methane to syngas

Junpei Horiguchi, Yasukazu Kobayashi, Seishiro Kobayashi, Yuichiro Yamazaki, Kohji Omata, Daisuke Nagao, Mikio Konno, Muneyoshi Yamada

Journal:

Applied Catalysis A: General

Year:

2011

Language:

english

File:

PDF, 914 KB

english, 2011

21

Artificial neural network-aided design of Co/SrCO3 catalyst for preferential oxidation of CO in excess hydrogen

Kohji Omata, Yasukazu Kobayashi, Muneyoshi Yamada

Journal:

Catalysis Today

Year:

2006

Language:

english

File:

PDF, 378 KB

english, 2006

22

Prenatal diagnosis of HPRT mutant genes in Lesch-Nyhan syndrome

Yasukazu Yamada, Haruko Goto, Kaoru Suzumori, Nobuaki Ogasawara

Journal:

Clinical Biochemistry

Year:

1997

Language:

english

File:

PDF, 115 KB

english, 1997

23

Gene mutations responsible for human erythrocyte AMP deaminase deficiency in poles

Yasukazu Yamada, Wieslaw Makarewicz, Haruko Goto, Hiroshi Kitoh, Nobuaki Ogasawara

Journal:

Clinical Biochemistry

Year:

1997

Language:

english

File:

PDF, 115 KB

english, 1997

24

A wide spectrum of clinical and brain MRI findings in patients withSLC19A3mutations

Kenichiro Yamada, Kiyokuni Miura, Kenju Hara, Motomasa Suzuki, Keiko Nakanishi, Toshiyuki Kumagai, Naoko Ishihara, Yasukazu Yamada, Ryozo Kuwano, Shoji Tsuji, Nobuaki Wakamatsu

Journal:

BMC Medical Genetics

Year:

2010

Language:

english

File:

PDF, 1.05 MB

english, 2010

25

Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency

Yasukazu Yamada, Haruko Goto, Kaoru Suzumori, Ritsuko Adachi, Nobuaki Ogasawara

Journal:

Year:

1992

Language:

english

File:

PDF, 749 KB

english, 1992

26

Transcatheter arterial chemoembolization (TACE) in the treatment of unresectable liver cancer

Ryusaku Yamada, Kazushi Kishi, Morio Sato, Tesuo Sonomura, Norifumi Nishida, Kayo Tanaka, Yasukazu Shioyama, Masaki Terada, Masashi Kimura

Journal:

World Journal of Surgery

Year:

1995

Language:

english

File:

PDF, 1.07 MB

english, 1995

27

Partial hypoxanthine-guanine phosphoribosyl transferease deficiency in two Korean siblings—a new mutation

Yong Choi, Ja Wook Koo, Il Soo Ha, Yasukazu Yamada, Haruko Goto, Nobuaki Ogasawara

Journal:

Pediatric Nephrology

Year:

1993

Language:

english

File:

PDF, 374 KB

english, 1993

28

A novelde novomutation in HPRT gene responsible for Lesch-Nyhan syndrome (HPRTosaka)

Yasukazu Yamada, Haruko Goto, Massashi Shiomi, Tetsuya Yamamoto, Kazuya Higashino, Nobuaki Ogasawara

Journal:

Journal of Human Genetics

Year:

1996

Language:

english

File:

PDF, 337 KB

english, 1996

29

Molecular genetic study of a Japanese family with Lesch-Nyhan syndrome: A point mutation at the consensus region of RNA splicing (HPRTKEIO)

Yasukazu Yamada, Haruko Goto, Shozo Tamura, Nobuaki Ogasawara

Journal:

Journal of Human Genetics

Year:

1993

Language:

english

File:

PDF, 697 KB

english, 1993

30

Post-TIPS hepatic encephalopathy treated by occlusion balloon-assisted retrograde embolization of a coexisting spontaneous splenorenal shunt

Yasukazu Shioyama, Kiyoshi Matsueda, Koushi Horihata, Masashi Kimura, Norifumi Nishida, Kazushi Kishi, Masaki Terada, Morio Sato, Ryusaku Yamada

Journal:

CardioVascular and Interventional Radiology

Year:

1996

Language:

english

File:

PDF, 911 KB

english, 1996

31

Percutaneous transluminal angioplasty in segmental obstruction of the hepatic inferior vena cava: Long-term results

Morio Sato, Ryusaku Yamada, Ko Tsuji, Kazushi Kishi, Masaki Terada, Yasukazu Shioyama, Shozo Nomura

Journal:

CardioVascular and Interventional Radiology

Year:

1990

Language:

english

File:

PDF, 650 KB

english, 1990

32

Efficacy of Doppler ultrasonography for assessment of transjugular intrahepatic portosystemic shunt patency

Masashi Kimura, Morio Sato, Nobuyuki Kawai, Kayo Tanaka, Tetsuo Sonomura, Kazushi Kishi, Yasukazu Shioyama, Masaki Terada, Ryusaku Yamada

Journal:

CardioVascular and Interventional Radiology

Year:

1996

Language:

english

File:

PDF, 1.20 MB

english, 1996

33

Polymorphism of extracellular superoxide dismutase (EC-SOD) gene: relation to the mutation responsible for high EC-SOD level in serum

Harutaka Yamada, Yasukazu Yamada, Tetsuo Adachi, Haruko Goto, Nobuaki Ogasawara, Arao Futenma, Mitsuru Kitano, Hironobu Miyai, Atsushi Fukatsu, Kazuyuki Hirano, Shinichi Kakumu

Journal:

Journal of Human Genetics

Year:

1997

Language:

english

File:

PDF, 203 KB

english, 1997

34

Very-high-flow injection rate for upper abdominal CT angiography

Masashi Kimura, Yasukazu Shioyama, Toshiyuki Okumura, Kouji Yamada, Michihisa Kawashima, Hiroki Minamiguti, Takami Hagihira, Kazushi Kishi, Morio Sato

Journal:

Journal of Gastroenterology

Year:

2002

Language:

english

File:

PDF, 1.57 MB

english, 2002

35

Sustainable and practical degradation of intact chicken feathers by cultivating a newly isolated thermophilicMeiothermus ruberH328

Tatsunobu Matsui, Yukie Yamada, Hideki Mitsuya, Yasushi Shigeri, Yasukazu Yoshida, Yoshiro Saito, Hiroshi Matsui, Kunihiko Watanabe

Journal:

Applied Microbiology and Biotechnology

Year:

2009

Language:

english

File:

PDF, 419 KB

english, 2009

36

Partial hypoxanthine-guanine phosphoribosyltransferase deficiency due to a newly recognized mutation presenting with renal failure in a one-year-old boy

Yasushi Ishida, Asako Ishimaru, Hisamichi Tauchi, Akiko Yamaguchi, Masayoshi Yokoyama, Kazuhiro Hiroi, Nobuaki Wakamatsu, Yasukazu Yamada

Journal:

European Journal of Pediatrics

Year:

2008

Language:

english

File:

PDF, 108 KB

english, 2008

37

Mesangial cell extracellular-superoxide dismutase production under the cell grow and extracellular matrix

Harutaka YAMADA, Tetsuo ADACHI, Yasukazu YAMADA, Sachiko MISAO, Wataru KITAGAWA, Takafumi NOMURA, Takanari AOKI, Naoto MIURA, Masato SAKUMA, Kazuhiro NISHIKAWA, Arao FUTENMA, Hirokazu IMAI

Journal:

Year:

2004

Language:

english

File:

PDF, 67 KB

english, 2004

38

Mutation in the gene encoding the fibroblast growth factor receptor-3 in Korean children with achondroplasia

Sei Won Yang, Hiroshi Kitoh, Yasukazu Yamada, Haruko Goto, Nobuaki Ogasawara

Journal:

Pediatrics International

Year:

1998

Language:

english

File:

PDF, 396 KB

english, 1998

39

Distribution of a Brain-specific Proteoglycan, Neurocan, and the Corresponding mRNA During the Formation of Barrels in the Rat Somatosensory Cortex

Eiji Watanabe, Sachiko Aono, Fumiko Matsui, Yasukazu Yamada, Ichiro Naruse, Atsuhiko Oohira

Journal:

European Journal of Neuroscience

Year:

1995

Language:

english

File:

PDF, 2.83 MB

english, 1995

40

Characterization of the Solubilized GABA and Benzodiazepine Receptors from Various Regions of Bovine Brain

Tomiko Asano, Yasukazu Yamada, Nobuaki Ogasawara

Journal:

Journal of Neurochemistry

Year:

1983

Language:

english

File:

PDF, 536 KB

english, 1983

41

Phenotypic differences in the brains and limbs of mutant mice caused by differences of Gli3 gene expression levels

Ichiro Naruse, Hiromi Keino, Yasukazu Yamada, Shigeo Masaki, Chi-chung Hui

Journal:

Congenital Anomalies

Year:

2001

Language:

english

File:

PDF, 801 KB

english, 2001

42

10.1038/86860

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

Journal:

Nature Genetics

Year:

2001

Language:

english

File:

PDF, 288 KB

english, 2001

43

Histone acetyltransferase activity in rat hepatomas

Hans H. Grunicke, Yasukazu Yamada, Yataka Natsumeda, Wilfried Helliger, Bernd Puschendorf, George Weber

Journal:

Journal of Cancer Research and Clinical Oncology

Year:

1989

Language:

english

File:

PDF, 435 KB

english, 1989

44

Purification and properties of adenosine kinase from rat brain

Yasukazu Yamada, Haruko Goto, Nobuaki Ogasawara

Journal:

Biochimica et Biophysica Acta (BBA) - Enzymology

Year:

1980

Language:

english

File:

PDF, 530 KB

english, 1980

45

Adenosine kinase from human liver

Yasukazu Yamada, Haruko Goto, Nobuaki Ogasawara

Journal:

Biochimica et Biophysica Acta (BBA) - Enzymology

Year:

1981

Language:

english

File:

PDF, 644 KB

english, 1981

46

Interaction of AMP deaminase with RNA

Nobuaki Ogasawara, Haruko Goto, Yasukazu Yamada

Journal:

Biochimica et Biophysica Acta (BBA) - Enzymology

Year:

1981

Language:

english

File:

PDF, 419 KB

english, 1981

47

IMP dehydrogenase: Inhibition by the anti-leukemic drug, tiazofurin

Yasukazu Yamada, Yutaka Natsumeda, Yasufumi Yamaji, Hiremagalur N. Jayaram, Guido J. Tricot, Ronald Hoffman, George Weber

Journal:

Leukemia Research

Year:

1989

Language:

english

File:

PDF, 454 KB

english, 1989

48

Cloning and nucleotide sequence of the cDNA encoding human erythrocyte-specific AMP deaminase

Yasukazu Yamada, Haruko Goto, Nobuaki Ogasawara

Journal:

Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression

Year:

1992

Language:

english

File:

PDF, 321 KB

english, 1992

49

Deoxyguanosine kinase from human placenta

Yasukazu Yamada, Haruko Goto, Nobuaki Ogasawara

Journal:

Biochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology

Year:

1982

Language:

english

File:

PDF, 626 KB

english, 1982

50

Kinetic model of K–Ni/α-Al2O3 catalyst for oxidative reforming of methane determined by genetic algorithm

Kohji Omata, Seishiro Kobayashi, Junpei Horiguchi, Yasukazu Kobayashi, Yuichiro Yamazaki, Muneyoshi Yamada

Journal:

Applied Catalysis A: General

Year:

2012

Language:

english

File:

PDF, 1.29 MB

english, 2012

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