Zobrazeno 1 - 10
of 69
pro vyhledávání: '"Gen Isshiki"'
Publikováno v:
Tissue Antigens. 59:512-519
The HLA-DO molecule is a non-classical class II heterodimer composed of alpha and beta chains. We have previously recognized that all eight of the allelic variations of the HLA-DOA gene represent non-synonymous amino acid substitution. In the present
Autor:
Yukihiro Hasegawa, Akihiko Kinugasa, Makoto Uchiyama, Yukifumi Yokota, Nozomu Sasaki, Shigeki Miyamoto, Kouji Kazahari, Shigetaka Sugihara, Masakuni Tokuda, Sachiko Kanematsu, Hidenari Masuda, Tatsuhiko Urakami, Taisuke Okada, Tetsuo Mori, Yutaka Igarashi, Susumu Kanzaki, Ichiro Yokota, Masaro Takesue, Hitoshi Kohno, Haruo Ogawa, Gen Isshiki, Soroku Nishiyama, Osamu Nukada, Kaichi Kida, Nobuo Matsuura, Tokuo Taketani, Yukashi Ohki, Akemi Koike, Yoshihito Kasahara, Takeki Hirano, Yuko Miki, Yasuko Uchigata, Shin Amemiya, Kazumichi Onigata, Nobuyuki Kikuchi, Naoki Fukushima, Toshikazu Takahashi, Katsuhiko Tachibana, Yoshiya Ito, Masatoshi Fujimoto, Satoshi Fujitsuka
Publikováno v:
Pediatric Diabetes. 2:160-169
The Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes (JSGIT) was established in July 1994 with the chief aim to improve the quality of therapy for type 1 diabetes in children, an entity far less common in Japan than in Eu
Publikováno v:
Nihon Shoni Arerugi Gakkaishi. The Japanese Journal of Pediatric Allergy and Clinical Immunology. 15:534-539
Publikováno v:
Clinical Chemistry. 46:806-810
Background: The Beutler enzyme spot test is an effective assay for newborn mass screening of galactosemia, but it is qualitative and relies on visual interpretation. We describe a quantitative, instrumental modification of the assay. Methods: We modi
Publikováno v:
Journal of Human Genetics. 44:377-382
Galactokinase (GALK) deficiency is an autosomal recessive disorder, which causes cataract formation in children not maintained on a lactose-free diet. We characterized the human GALK gene by screening a Japanese genomic DNA phage library, and found t
Publikováno v:
Brain and Development. 21:264-267
Neopterin and biopterin concentrations were measured in cerebrospinal fluid (CSF) and urine samples from controls less than 1 year old. This is the first time for CSF reference data for controls less than 1 year old to be reported. The ratio of neopt
Autor:
Taeko Naruse, Hidetoshi Inoko, Tatsuya Anzai, M. Kagiya, N. Takashige, Gen Isshiki, N. Nabeya, H. Kawata, Noriyuki Tatsumi, Yoshisuke Nose
Publikováno v:
Tissue Antigens. 53:359-365
The HLA-DO molecule, a heterodimer consisting of two novel members of the class II gene family, DOA and DOB, has recently been suggested to function as an important modulator in the HLA class II restricted antigen presentation pathway by interaction
Publikováno v:
Journal of Human Genetics. 44:91-95
Two novel mutations of the beta-hexosaminidase alpha subunit gene were identified in Japanese patients with the infantile form of Tay-Sachs disease. One mutation was a one-base deletion at nt613C, which generated a stop codon at two codons downstream