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1

Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population

Kudo, Takayuki, Ikeda, Katsuhisa, Kure, Shigeo, Matsubara, Yoichi, Oshima, Takeshi, Watanabe, Ken-ichi, Kawase, Tetsuaki, Narisawa, Kuniaki, Takasaka, Tomonori

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 189 KB

english, 2000

2

The Temperature Dependence of Electrical Resistivity of Polycrystalline Graphite in the Range of 900K-2800K

Adachi, Masakazu, Shioyama, Hiroshi, Narisawa, Masaki, Ikeda, Shigeru, Tatsumi, Kuniaki, Souma, Isao, Isozaki, Hideo, Egawa, Kazunori, Kyutoku, Hirofumi, Tanamura, Takesi

Journal:

Year:

1991

File:

PDF, 495 KB

1991

3

Glycogen storage disease type Ib: Structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene

Hou, Dian-Chang, Kure, Shigeo, Suzuki, Yoichi, Hasegawa, Yukihiro, Hara, Yoji, Inoue, Takehiko, Kida, Yoshikazu, Matsubara, Yoichi, Narisawa, Kuniaki

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 216 KB

english, 1999

4

Prenatal diagnosis of non-ketotic hyperglycinaemia: enzymatic diagnosis in 28 families and DNA diagnosis detecting prevalent Finnish and Israeli–Arab mutations

Shigeo Kure, Marie-Odile Rolland, Jaako Leisti, Hanna Mandel, Yoshiyuki Sakata, Keiya Tada, Yoichi Matsubara, Kuniaki Narisawa

Journal:

Prenatal Diagnosis

Year:

1999

Language:

english

File:

PDF, 124 KB

english, 1999

5

Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: Functional analysis and association with polymorphic haplotypes and two clinical phenotypes

Kaoru Wataya, Jun Akanuma, Patrizia Cavadini, Yoko Aoki, Shigeo Kure, Federica Invernizzi, Ichiro Yoshida, Jun-ichi Kira, Franco Taroni, Yoichi Matsubara, Kuniaki Narisawa

Journal:

Year:

1998

Language:

english

File:

PDF, 234 KB

english, 1998

6

Apo A-IMiyagi(947delA): A novel deletion in the apolipoprotein A-I gene associated with familial hypoalphalipoproteinemia

Shigeo Kure, Dian-Chang Hou, Michinori Sato, Yoichi Matsubara, Kuniaki Narisawa

Journal:

Year:

1999

Language:

english

File:

PDF, 10 KB

english, 1999

7

Mutation detection by TaqMan-allele specific amplification: Application to molecular diagnosis of glycogen storage disease type Ia and medium-chain acyl-CoA dehydrogenase deficiency

Kunihiro Fujii, Yoichi Matsubara, Jun Akanuma, Kazutoshi Takahashi, Shigeo Kure, Yoichi Suzuki, Masue Imaizumi, Kazuie Iinuma, Osamu Sakatsume, Piero Rinaldo, Kuniaki Narisawa

Journal:

Year:

2000

Language:

english

File:

PDF, 271 KB

english, 2000

8

Two homozygous cases of erythrocyte pyruvate kinase (PK) deficiency in Japan: PK sendai and PK shinshu

Dr. Kenzaburo Tani, Hisaichi Fujii, Keisuke Takahashi, Hiromi Ogura, Hitoshi Kanno, Kiyoshi Hayasaka, Kuniaki Narisawa, Tatsutoshi Nakahata, Taro Akabane, Takayuki Morisaki, Hisashi Tsutsumi, Shiro Mi

Journal:

American Journal of Hematology

Year:

1988

Language:

english

File:

PDF, 402 KB

english, 1988

9

Variance of age at onset in a Japanese family with amyotrophic lateral sclerosis associated with a novel cu/zn superoxide dismutase mutation

Masashi Aoki, Dr Koji Abe, Kouji Houi, Masahito Ogasawara, Yoichi Matsubara, Takaaki Kobayashi, Soichiro Mochio, Kuniaki Narisawa, Yasuto Itoyama

Journal:

Annals of Neurology

Year:

1995

Language:

english

File:

PDF, 459 KB

english, 1995

10

Analysis of polymerase chain reaction-product by capillary electrophoresis with laser-induced fluorescence detection and its application to the diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency

Hidetoshi Arakawa, Kunio Uetanaka, Masako Maeda, Akio Tsuji, Yoichi Matsubara, Kuniaki Narisawa

Journal:

Journal of Chromatography A

Year:

1994

Language:

english

File:

PDF, 528 KB

english, 1994

11

Prenatal exclusion of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency by direct detection of the mutation with PCR

Jan Hendrickx, Peter van Osta, François Eyskens, Yoichi Matsubara, Kuniaki Narisawa, Patrick J. Willems

Journal:

Prenatal Diagnosis

Year:

1992

Language:

english

File:

PDF, 289 KB

english, 1992

12

Cerebral glucose utilization in pediatric neurological disorders determined by positron emission tomography

Kazuhiko Yanai, Kazuie Iinuma, Taiju Matsuzawa, Masatoshi Ito, Shigeaki Miyabayashi, Kuniaki Narisawa, Tatsuo Ido, Kenji Yamada, Keiya Tada

Journal:

European Journal of Nuclear Medicine and Molecular Imaging

Year:

1987

Language:

english

File:

PDF, 1.03 MB

english, 1987

13

Genetic heterogeneity of propionic acidemia: Analysis of 15 Japanese patients

Toshihiro Ohura, Shigeaki Miyabayashi, Kuniaki Narisawa, Keiya Tada

Journal:

Year:

1991

Language:

english

File:

PDF, 522 KB

english, 1991

14

The molecular defect in propionic acidemia: Exon skipping caused by an 8-bp deletion from an intron in the PCCB allele

Toshihiro Ohura, Masato Ogasawara, Hiroyuki Ikeda, Kuniaki Narisawa, Keiya Tada

Journal:

Year:

1993

Language:

english

File:

PDF, 1.09 MB

english, 1993

15

A family of adenosine deaminase deficiency with severe combined immunodeficiency

Shigeru Tsuchiya, Kuniaki Narisawa, Tasuke Konno, Keiya Tada

Journal:

Journal of Human Genetics

Year:

1979

Language:

english

File:

PDF, 187 KB

english, 1979

16

PstI fragment polymorphism in the gene of the human ATP synthase beta subunit

Kiyoshi Hasegawa, Shigeo Ohta, Kuniaki Narisawa, Keiya Tada, Yasuo Kagawa

Journal:

Journal of Human Genetics

Year:

1987

Language:

english

File:

PDF, 721 KB

english, 1987

17

Dinucleotide repeat polymorphism in 65k-glutamate decarboxylase gene

Shigeo Kure, Yoko Aoki, Toshikatsu Shinka, Yoshiyuki Sakata, Yoichi Matsubara, Kuniaki Narisawa

Journal:

Journal of Human Genetics

Year:

1997

Language:

english

File:

PDF, 115 KB

english, 1997

18

Nonketotic hyperglycinemia: Biochemical, molecular, and neurological aspects

Shigeo Kure, Keiya Tada, Kuniaki Narisawa

Journal:

Journal of Human Genetics

Year:

1997

Language:

english

File:

PDF, 589 KB

english, 1997

19

Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients

Hiroyuki Ikeda, Y. Matsubara, Hitoshi Mikami, Shigeo Kure, Misao Owada, Tamara Gough, Peter M. Smooker, Marion Dobbs, Hans-Henrik M. Dahl, Richard G. H. Cotton, Kuniaki Narisawa

Journal:

Year:

1997

Language:

english

File:

PDF, 85 KB

english, 1997

20

Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinasePHKA2gene

Barbara Burwinkel, Lluis Amat, R. George F. Gray, Nobutake Matsuo, Koji Muroya, Kuniaki Narisawa, Ronald J. Sokol, M. A. Vilaseca, M. W. Kilimann

Journal:

Year:

1998

Language:

english

File:

PDF, 193 KB

english, 1998

21

A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia

S. Kure, Hanna Mandel, Marie-Odile Rolland, Yoshiyuki Sakata, Toshikatsu Shinka, Aryeb Drugan, Avihu Boneh, Keiya Tada, Yoichi Matsubara, Kuniaki Narisawa

Journal:

Year:

1998

Language:

english

File:

PDF, 131 KB

english, 1998

22

Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency

Yoko Aoki, X. Li, Osamu Sakamoto, Masahiro Hiratsuka, Hiroshi Akaishi, Liquing Xu, Paz Briones, Terttu Suormala, E. Regula Baumgartner, Y. Suzuki, Kuniaki Narisawa

Journal:

Year:

1999

Language:

english

File:

PDF, 113 KB

english, 1999

23

Mutation and polymorphic marker analyses of 65K- and 67K-glutamate decarboxylase genes in two families with pyridoxine-dependent epilepsy

S. Kure, Yoshiyuki Sakata, Shigeaki Miyabayashi, Kazutoshi Takahashi, Toshikatsu Shinka, Yoichi Matsubara, Hisao Hoshino, Kuniaki Narisawa

Journal:

Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 158 KB

english, 1998

24

A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia

S. Kure, Toshikatsu Shinka, Yoshiyuki Sakata, Narasaki Osamu, Masaru Takayanagi, Keiya Tada, Yoichi Matsubara, Kuniaki Narisawa

Journal:

Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 236 KB

english, 1998

25

Molecular analysis of methylmalonyl-CoA mutase deficiency: identification of three missense mutations inmut0patients

Hitoshi Mikami, Masahito Ogasawara, Y. Matsubara, Masahiro Kikuchi, Shigeaki Miyabayashi, Shigeo Kure, Kuniaki Narisawa

Journal:

Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 169 KB

english, 1999

26

Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA

Suzuki, Yoichi, Aoki, Yoko, Ishida, Yoshinori, Chiba, Yasushi, Iwamatsu, Akihiro, Kishino, Tatsuya, Niikawa, Norio, Matsubara, Yoichi, Narisawa, Kuniaki

Journal:

Nature Genetics

Year:

1994

File:

PDF, 844 KB

1994

27

Mild ALS in Japan associated with novel SOD mutation

Ogasawara, Masahito, Matsubara, Yoichi, Narisawa, Kuniaki, Aoki, Masashi, Nakamura, Shozo, Itoyama, Yasuto, Abe, Koji

Journal:

Nature Genetics

Year:

1993

File:

PDF, 227 KB

1993

28

Rapid Detection of CYP2C18 Genotypes by Real-time Fluorescence Polymerase Chain Reaction

MICHINAO MIZUGAKI, MASAHIRO HIRATSUKA, YASUYUKI AGATSUMA, YOICHI MATSUBARA, KUNIHIRO FUJII, SHIGEO KURE, KUNIAKI NARISAWA

Journal:

Journal of Pharmacy and Pharmacology

Year:

2000

Language:

english

File:

PDF, 319 KB

english, 2000

29

Identification of holocarboxylase synthetase (HCS) proteins in human placenta

Masahiro Hiratsuka, Osamu Sakamoto, Xue Li, Yoichi Suzuki, Yoko Aoki, Kuniaki Narisawa

Journal:

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

Year:

1998

Language:

english

File:

PDF, 271 KB

english, 1998

30

Effect of inhibitors of DNA synthesis on allylisopropylacetamide-induced increases of δ-aminolevulinic acid synthetase and other enzymes in rat liver

Kuniaki Narisawa, Goro Kikuchi

Journal:

Biochimica et Biophysica Acta (BBA) - Enzymology and Biological Oxidation

Year:

1965

Language:

english

File:

PDF, 318 KB

english, 1965

31

Depletion of Cerebral D-Serine in Non-Ketotic Hyperglycinemia: Possible Involvement of Glycine Cleavage System in Control of Endogenous D-Serine

Hisayuki Iwama, Katsunobu Takahashi, Shigeo Kure, Fumihiko Hayashi, Kuniaki Narisawa, Keiya Tada, Masashi Mizoguchi, Sachio Takashima, Urara Tomita, Toru Nishikawa

Journal:

Biochemical and Biophysical Research Communications

Year:

1997

Language:

english

File:

PDF, 75 KB

english, 1997

32

Molecular Analysis of Glycogen Storage Disease Type Ib: Identification of a Prevalent Mutation among Japanese Patients and Assignment of a Putative Glucose-6-Phosphate Translocase Gene to Chromosome 11

Shigeo Kure, Yoichi Suzuki, Yoichi Matsubara, Osamu Sakamoto, Haruo Shintaku, Gen Isshiki, Chiharu Hoshida, Isho Izumi, Nobuo Sakura, Kuniaki Narisawa

Journal:

Biochemical and Biophysical Research Communications

Year:

1998

Language:

english

File:

PDF, 580 KB

english, 1998

33

Adenovirus-Mediated in Utero Gene Transfer in Mice and Guinea Pigs: Tissue Distribution of Recombinant Adenovirus Determined by Quantitative TaqMan–Polymerase Chain Reaction Assay

Masato Senoo, Yoichi Matsubara, Kunihiro Fujii, Yutaka Nagasaki, Masahiro Hiratsuka, Shigeo Kure, Shigeaki Uehara, Kunihiro Okamura, Akira Yajima, Kuniaki Narisawa

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 383 KB

english, 2000

34

Mechanism of allylisopropylacetamide-induced increase of δ-aminolevulinate synthetase in rat-liver mitochondria

Kuniaki Narisawa, Goro Kikuchi

Journal:

Biochimica et Biophysica Acta (BBA) - Nucleic Acids and Protein Synthesis

Year:

1966

Language:

english

File:

PDF, 652 KB

english, 1966

35

Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency

Yoichi Matsubara, Kuniaki Narisawa, Shigeaki Miyabayashi, Keiya Tada, Paul M. Coates, Claude Bachmann, Louis J. Elsas II, Rodney J. Pollitt, William J. Rhead, Charles R. Roe

Journal:

Biochemical and Biophysical Research Communications

Year:

1990

Language:

english

File:

PDF, 706 KB

english, 1990

36

Glutamate triggers internucleosomal DNA cleavage in neuronal cells

Shigeo Kure, Teiji Tominaga, Takashi Yoshimoto, Keiya Tada, Kuniaki Narisawa

Journal:

Biochemical and Biophysical Research Communications

Year:

1991

Language:

english

File:

PDF, 1.13 MB

english, 1991

37

Structural and expression analyses of normal and mutant mRNA encoding glycine decarboxylase: Three-base deletion in mRNA causes nonketotic hyperglycinemia

Shigeo Kure, Kuniaki Narisawa, Keiya Tada

Journal:

Biochemical and Biophysical Research Communications

Year:

1991

Language:

english

File:

PDF, 881 KB

english, 1991

38

Endonuclease activation following focal ischemic injury in the rat brain

Teiji Tominaga, Shigeo Kure, Kuniaki Narisawa, Takashi Yoshimoto

Journal:

Year:

1993

Language:

english

File:

PDF, 800 KB

english, 1993

39

Reduced level of glycine cleavage system in the liver of hyperglycinemia patients

Motokawa Yutaro, Kikuchi Goro, Narisawa Kuniaki, Arakawa Tsuneo

Journal:

Clinica Chimica Acta

Year:

1977

Language:

english

File:

PDF, 749 KB

english, 1977

40

Assay of methylmalonyl CoA mutase with high-performance liquid chromatography

Masahiro Kikuchi, Hiroshi Hanamizu, Kuniaki Narisawa, Keiya Tada

Journal:

Clinica Chimica Acta

Year:

1989

Language:

english

File:

PDF, 440 KB

english, 1989

41

3-Methylglutaconyl-CoA hydratase, 3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl-CoA lyase deficiencies: A coupled enzyme assay useful for their detection

Kuniaki Narisawa, Kenneth M. Gibson, Lawrence Sweetman, William L. Nyhan

Journal:

Clinica Chimica Acta

Year:

1989

Language:

english

File:

PDF, 536 KB

english, 1989

42

Enzymatic diagnosis of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency with high-performance liquid chromatography

Masahiro Kikuchi, Kuniaki Narisawa, Keiya Tada, Laurence Sweetman

Journal:

Clinica Chimica Acta

Year:

1990

Language:

english

File:

PDF, 325 KB

english, 1990

43

Enzymatic diagnosis of holocarboxylase synthetase deficiency using apo-carboxyl carrier protein as a substrate

Yoichi Suzuki, Yoko Aoki, Osamu Sakamoto, Xue Li, Shigeaki Miyabayashi, Yasuaki Kazuta, Hiroki Kondo, Kuniaki Narisawa

Journal:

Clinica Chimica Acta

Year:

1996

Language:

english

File:

PDF, 663 KB

english, 1996

44

Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients

Yoko Aoki, Yoichi Suzuki, Osamu Sakamoto, Xue Li, Kazutoshi Takahashi, Akira Ohtake, Ryoichi Sakuta, Toshihiro Ohura, Shigeaki Miyabayashi, Kuniaki Narisawa

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

1995

Language:

english

File:

PDF, 777 KB

english, 1995

45

A direct evidence for defect in glucose-6-phosphate transport system in hepatic microsomal membrane of glycogen storage disease type Ib

Yutaka Igarashi, Seiichi Kato, Kuniaki Narisawa, Keiya Tada, Yoshio Amano, Tetsuo Mori, Shin Takeuchi

Journal:

Biochemical and Biophysical Research Communications

Year:

1984

Language:

english

File:

PDF, 218 KB

english, 1984

46

A new type of glycogen storage disease caused by deficiency of cardiac phosphorylase kinase

Keiko Mizuta, Eikichi Hashimoto, Akimitsu Tsutou, Yoshinobu Eishi, Tamiko Takemura, Kuniaki Narisawa, Hirohei Yamamura

Journal:

Biochemical and Biophysical Research Communications

Year:

1984

Language:

english

File:

PDF, 271 KB

english, 1984

47

Kinetic characteristics of thrombin receptor-mediated responses in rat megakaryocytes

Chikako Uneyama, Hisayuki Uneyama, Kuniaki Narisawa, Michihito Takahashi, Norio Akaike

Journal:

European Journal of Pharmacology

Year:

1997

Language:

english

File:

PDF, 174 KB

english, 1997

48

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

Shigeo Kure, Dian-Chang Hou, Toshihiro Ohura, Hiroko Iwamoto, Shuhei Suzuki, Naruji Sugiyama, Osamu Sakamoto, Kunihiro Fujii, Yoichi Matsubara, Kuniaki Narisawa

Journal:

The Journal of Pediatrics

Year:

1999

Language:

english

File:

PDF, 208 KB

english, 1999

49

Glycogen storage disease type Ib without neutropenia

Shigeo Kure, Dian-Chang Hou, Yasuyuki Suzuki, Atsushi Yamagishi, Masahiro Hiratsuka, Tokiko Fukuda, Hideo Sugie, Naomi Kondo, Yoichi Matsubara, Kuniaki Narisawa

Journal:

The Journal of Pediatrics

Year:

2000

Language:

english

File:

PDF, 89 KB

english, 2000

50

A new variant of glycogen storage disease Type I probably due to a defect in the glucose-6-phosphate transport system

Kuniaki Narisawa, Yutaka Igarashi, Hiromi Otomo, Keiya Tada

Journal:

Biochemical and Biophysical Research Communications

Year:

1978

Language:

english

File:

PDF, 265 KB

english, 1978