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Results: 1-24 |
Results: 24
Neonatal presentation of adult-onset type II citrullinemia
Authors: Ohura, T Kobayashi, K Tazawa, Y Nishi, I Abukawa, D Sakamoto, O Iinuma, K Saheki, T
Citation: T. Ohura et al., Neonatal presentation of adult-onset type II citrullinemia, HUM GENET, 108(2), 2001, pp. 87-90
Citrin and aralar1 are Ca2+-stimulated aspartate/glutamate transporters inmitochondria
Authors: Palmieri, L Pardo, B Lasorsa, FM del Arco, A Kobayashi, K Iijima, M Runswick, MJ Walker, JE Saheki, T Satrustegui, J Palmieri, F
Citation: L. Palmieri et al., Citrin and aralar1 are Ca2+-stimulated aspartate/glutamate transporters inmitochondria, EMBO J, 20(18), 2001, pp. 5060-5069
Carbamoyl phosphate synthetase I deficiency: molecular genetic findings and prenatal diagnosis
Authors: Aoshima, T Kajita, T Sekido, Y Mimura, S Itakura, A Yasuda, I Saheki, T Watanabe, K Shimokata, K Niwa, T
Citation: T. Aoshima et al., Carbamoyl phosphate synthetase I deficiency: molecular genetic findings and prenatal diagnosis, PRENAT DIAG, 21(8), 2001, pp. 634-637
Living-related liver transplantation for Type II citrullinemia using a graft from heterozygote donor
Authors: Kasahara, M Ohwada, S Takeichi, T Kaneko, H Tomomasa, T Morikawa, A Yonemura, K Asonuma, K Tanaka, K Kobayashi, K Saheki, T Takeyoshi, I Morishita, Y
Citation: M. Kasahara et al., Living-related liver transplantation for Type II citrullinemia using a graft from heterozygote donor, TRANSPLANT, 71(1), 2001, pp. 157-159
High serum pancreatic secretory trypsin inhibitor before onset of type II citrullinemia
Authors: Tsuboi, Y Fujino, Y Kobayashi, K Saheki, T Yamada, T
Citation: Y. Tsuboi et al., High serum pancreatic secretory trypsin inhibitor before onset of type II citrullinemia, NEUROLOGY, 57(5), 2001, pp. 933-933
Citrullinemia type II in a 64-year-old man with fluctuating serum citrulline levels
Authors: Maruyama, H Ogawa, M Nishio, T Kobayashi, K Saheki, T Sunohara, N
Citation: H. Maruyama et al., Citrullinemia type II in a 64-year-old man with fluctuating serum citrulline levels, J NEUR SCI, 182(2), 2001, pp. 167-170
Infantile cholestatic jaundice associated with adult-onset type II citrullinemia
Authors: Tazawa, Y Kobayashi, K Ohura, T Abukawa, D Nishinomiya, F Hosoda, Y Yamashita, M Nagata, I Kono, Y Yasuda, T Yamaguchi, N Saheki, T
Citation: Y. Tazawa et al., Infantile cholestatic jaundice associated with adult-onset type II citrullinemia, J PEDIAT, 138(5), 2001, pp. 735-740
Possible clinical and histologic manifestations of adult-onset type II citrullinenia in early infancy
Authors: Tomomasa, T Kobayashi, K Kaneko, H Shimura, H Fukusato, T Tabata, M Inoue, Y Ohwada, S Kasahara, M Morishita, Y Kimura, M Saheki, T Morikawa, A
Citation: T. Tomomasa et al., Possible clinical and histologic manifestations of adult-onset type II citrullinenia in early infancy, J PEDIAT, 138(5), 2001, pp. 741-743
Type II (adult onset) citrullinaemia: clinical pictures and the therapeutic effect of liver transplantation
Authors: Ikeda, S Yazaki, M Takei, Y Ikegami, T Hashikura, Y Kawasaki, S Iwai, M Kobayashi, K Saheki, T
Citation: S. Ikeda et al., Type II (adult onset) citrullinaemia: clinical pictures and the therapeutic effect of liver transplantation, J NE NE PSY, 71(5), 2001, pp. 663-670
A novel a(-4)-to-g acceptor splice site mutation leads to three bases insertion in ferrochelatase mRNA in a patient with erythropoietic protoporphyria
Authors: Yotsumoto, S Shimada, S Terasaki, K Taketani, S Kobayashi, K Saheki, T Kanzaki, T
Citation: S. Yotsumoto et al., A novel a(-4)-to-g acceptor splice site mutation leads to three bases insertion in ferrochelatase mRNA in a patient with erythropoietic protoporphyria, J INVES DER, 117(1), 2001, pp. 159-161
Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency
Authors: Aoshima, T Kajita, M Sekido, Y Kikuchi, S Yasuda, I Saheki, T Watanabe, K Shimokata, K Niwa, T
Citation: T. Aoshima et al., Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency, HUMAN HERED, 52(2), 2001, pp. 99-101
Antagonizing effect of AP-1 on glucocorticoid induction of urea cycle enzymes: A study of hyperammonemia in carnitine-deficient, juvenile visceral steatosis mice
Authors: Saheki, T Li, MX Kobayashi, K
Citation: T. Saheki et al., Antagonizing effect of AP-1 on glucocorticoid induction of urea cycle enzymes: A study of hyperammonemia in carnitine-deficient, juvenile visceral steatosis mice, MOL GEN MET, 71(4), 2000, pp. 545-551
Genomic organization and mapping of mouse CDV (carnitine deficiency-associated gene expressed in ventricle)-1 and its related CDV-1R gene
Authors: Higashi, M Kobayashi, K Iijima, M Wakana, S Horiuchi, M Yasuda, T Yoshida, G Kanmura, Y Saheki, T
Citation: M. Higashi et al., Genomic organization and mapping of mouse CDV (carnitine deficiency-associated gene expressed in ventricle)-1 and its related CDV-1R gene, MAMM GENOME, 11(12), 2000, pp. 1053-1057
Analyses of the transglutaminase 1 gene mutation and ultrastructural characteristics in a Japanese patient with lamellar ichthyosis
Authors: Yotsumoto, S Akiyama, M Yoneda, K Fukushige, T Kobayashi, K Saheki, T Kanzaki, T
Citation: S. Yotsumoto et al., Analyses of the transglutaminase 1 gene mutation and ultrastructural characteristics in a Japanese patient with lamellar ichthyosis, J DERMA SCI, 24(2), 2000, pp. 119-125
Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia
Authors: Yasuda, T Yamaguchi, N Kobayashi, K Nishi, I Horinouchi, H Jalil, MA Li, MX Ushikai, M Iijima, M Kondo, I Saheki, T
Citation: T. Yasuda et al., Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia, HUM GENET, 107(6), 2000, pp. 537-545
Type II citrullinemia (citrin deficiency): A mysterious disease caused by a defect of calcium-binding mitochondrial carrier protein
Authors: Kobayashi, K Iijima, M Yasuda, T Sinasac, DS Yamaguchi, N Tsui, LC Scherer, SW Saheki, T
Citation: K. Kobayashi et al., Type II citrullinemia (citrin deficiency): A mysterious disease caused by a defect of calcium-binding mitochondrial carrier protein, CALCIUM: THE MOLECULAR BASIS OF CALCIUM ACTION IN BIOLOGY AND MEDICINE, 2000, pp. 565-587
Involvement of a cis-acting element in the suppression of carbamoyl phosphate synthetase I gene expression in the liver of carnitine-deficient mice
Authors: Abu Musa, DMA Kobayashi, K Yasuda, I Iijima, M Christoffels, VM Tomomura, M Horiuchi, M Ohnishi, T Kajihara, T Daikuhara, Y Lamers, WH Saheki, T
Citation: Dma. Abu Musa et al., Involvement of a cis-acting element in the suppression of carbamoyl phosphate synthetase I gene expression in the liver of carnitine-deficient mice, MOL GEN MET, 68(3), 1999, pp. 346-356
The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein
Authors: Kobayashi, K Sinasac, DS Iijima, M Boright, AP Begum, L Lee, JR Yasuda, T Ikeda, S Hirano, R Terazono, H Crackower, MA Kondo, I Tsui, LC Scherer, SW Saheki, T
Citation: K. Kobayashi et al., The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein, NAT GENET, 22(2), 1999, pp. 159-163
Aberrations of ammonia metabolism in ornithine carbamoyltransferase-deficient spf-ash mice and their prevention by treatment with urea cycle intermediate amino acids and an ornithine aminotransferase inactivator
Authors: Li, MX Nakajima, T Fukushige, T Kobayashi, K Seiler, N Saheki, T
Citation: Mx. Li et al., Aberrations of ammonia metabolism in ornithine carbamoyltransferase-deficient spf-ash mice and their prevention by treatment with urea cycle intermediate amino acids and an ornithine aminotransferase inactivator, BBA-MOL BAS, 1455(1), 1999, pp. 1-11
Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13,and cloning and expression of its mouse homologue
Authors: Sinasac, DS Crackower, MA Lee, JR Kobayashi, K Saheki, T Scherer, SW Tsui, LC
Citation: Ds. Sinasac et al., Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13,and cloning and expression of its mouse homologue, GENOMICS, 62(2), 1999, pp. 289-292
Catecholamine metabolism inhibitors and receptor blockades only partially suppress cardiac hypertrophy of juvenile visceral steatosis mice with systemic carnitine deficiency
Authors: Jalil, MA Horiuchi, M Nomoto, M Kobayashi, K Saheki, T
Citation: Ma. Jalil et al., Catecholamine metabolism inhibitors and receptor blockades only partially suppress cardiac hypertrophy of juvenile visceral steatosis mice with systemic carnitine deficiency, LIFE SCI, 64(13), 1999, pp. 1137-1144
A novel point mutation affecting the tyrosine kinase domain of the TRKA gene in a family with congenital insensitivity to pain with anhidrosis
Authors: Yotsumoto, S Setoyama, M Hozumi, H Mizoguchi, S Fukumaru, S Kobayashi, K Saheki, T Kanzaki, T
Citation: S. Yotsumoto et al., A novel point mutation affecting the tyrosine kinase domain of the TRKA gene in a family with congenital insensitivity to pain with anhidrosis, J INVES DER, 112(5), 1999, pp. 810-814
Cardiomegaly in the juvenile visceral steatosis (JVS) mouse is reduced with acute elevation of heart short-chain acyl-carnitine level after L-carnitine injection
Authors: Kuwajima, M Horiuchi, M Harashima, H Lu, KM Hayashi, M Sei, M Ozaki, K Kudo, T Kamido, H Ono, A Saheki, T Shima, K
Citation: M. Kuwajima et al., Cardiomegaly in the juvenile visceral steatosis (JVS) mouse is reduced with acute elevation of heart short-chain acyl-carnitine level after L-carnitine injection, FEBS LETTER, 443(3), 1999, pp. 261-266
A novel point mutation of the EDA gene in a Japanese family with anhidrotic ectodermal dysplasia
Authors: Yotsumoto, S Fukumaru, S Matsushita, S Oku, T Kobayashi, K Saheki, T Kanzaki, T
Citation: S. Yotsumoto et al., A novel point mutation of the EDA gene in a Japanese family with anhidrotic ectodermal dysplasia, J INVES DER, 111(6), 1998, pp. 1246-1247
Risultati: 1-24 |