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    1. Ohura, T; Kobayashi, K; Tazawa, Y; Nishi, I; Abukawa, D; Sakamoto, O; Iinuma, K; Saheki, T
      Neonatal presentation of adult-onset type II citrullinemia

      HUMAN GENETICS
    2. Palmieri, L; Pardo, B; Lasorsa, FM; del Arco, A; Kobayashi, K; Iijima, M; Runswick, MJ; Walker, JE; Saheki, T; Satrustegui, J; Palmieri, F
      Citrin and aralar1 are Ca2+-stimulated aspartate/glutamate transporters inmitochondria

      EMBO JOURNAL
    3. Aoshima, T; Kajita, T; Sekido, Y; Mimura, S; Itakura, A; Yasuda, I; Saheki, T; Watanabe, K; Shimokata, K; Niwa, T
      Carbamoyl phosphate synthetase I deficiency: molecular genetic findings and prenatal diagnosis

      PRENATAL DIAGNOSIS
    4. 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
      Living-related liver transplantation for Type II citrullinemia using a graft from heterozygote donor

      TRANSPLANTATION
    5. Tsuboi, Y; Fujino, Y; Kobayashi, K; Saheki, T; Yamada, T
      High serum pancreatic secretory trypsin inhibitor before onset of type II citrullinemia

      NEUROLOGY
    6. Maruyama, H; Ogawa, M; Nishio, T; Kobayashi, K; Saheki, T; Sunohara, N
      Citrullinemia type II in a 64-year-old man with fluctuating serum citrulline levels

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    7. Tazawa, Y; Kobayashi, K; Ohura, T; Abukawa, D; Nishinomiya, F; Hosoda, Y; Yamashita, M; Nagata, I; Kono, Y; Yasuda, T; Yamaguchi, N; Saheki, T
      Infantile cholestatic jaundice associated with adult-onset type II citrullinemia

      JOURNAL OF PEDIATRICS
    8. 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
      Possible clinical and histologic manifestations of adult-onset type II citrullinenia in early infancy

      JOURNAL OF PEDIATRICS
    9. Ikeda, S; Yazaki, M; Takei, Y; Ikegami, T; Hashikura, Y; Kawasaki, S; Iwai, M; Kobayashi, K; Saheki, T
      Type II (adult onset) citrullinaemia: clinical pictures and the therapeutic effect of liver transplantation

      JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
    10. Yotsumoto, S; Shimada, S; Terasaki, K; Taketani, S; Kobayashi, K; Saheki, T; Kanzaki, T
      A novel a(-4)-to-g acceptor splice site mutation leads to three bases insertion in ferrochelatase mRNA in a patient with erythropoietic protoporphyria

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    11. Aoshima, T; Kajita, M; Sekido, Y; Kikuchi, S; Yasuda, I; Saheki, T; Watanabe, K; Shimokata, K; Niwa, T
      Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency

      HUMAN HEREDITY
    12. Saheki, T; Li, MX; Kobayashi, K
      Antagonizing effect of AP-1 on glucocorticoid induction of urea cycle enzymes: A study of hyperammonemia in carnitine-deficient, juvenile visceral steatosis mice

      MOLECULAR GENETICS AND METABOLISM
    13. Higashi, M; Kobayashi, K; Iijima, M; Wakana, S; Horiuchi, M; Yasuda, T; Yoshida, G; Kanmura, Y; Saheki, T
      Genomic organization and mapping of mouse CDV (carnitine deficiency-associated gene expressed in ventricle)-1 and its related CDV-1R gene

      MAMMALIAN GENOME
    14. Yotsumoto, S; Akiyama, M; Yoneda, K; Fukushige, T; Kobayashi, K; Saheki, T; Kanzaki, T
      Analyses of the transglutaminase 1 gene mutation and ultrastructural characteristics in a Japanese patient with lamellar ichthyosis

      JOURNAL OF DERMATOLOGICAL SCIENCE
    15. Yasuda, T; Yamaguchi, N; Kobayashi, K; Nishi, I; Horinouchi, H; Jalil, MA; Li, MX; Ushikai, M; Iijima, M; Kondo, I; Saheki, T
      Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia

      HUMAN GENETICS
    16. Kobayashi, K; Iijima, M; Yasuda, T; Sinasac, DS; Yamaguchi, N; Tsui, LC; Scherer, SW; Saheki, T
      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
    17. 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
      Involvement of a cis-acting element in the suppression of carbamoyl phosphate synthetase I gene expression in the liver of carnitine-deficient mice

      MOLECULAR GENETICS AND METABOLISM
    18. 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
      The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein

      NATURE GENETICS
    19. Li, MX; Nakajima, T; Fukushige, T; Kobayashi, K; Seiler, N; Saheki, T
      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

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    20. Sinasac, DS; Crackower, MA; Lee, JR; Kobayashi, K; Saheki, T; Scherer, SW; Tsui, LC
      Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13,and cloning and expression of its mouse homologue

      GENOMICS
    21. Jalil, MA; Horiuchi, M; Nomoto, M; Kobayashi, K; Saheki, T
      Catecholamine metabolism inhibitors and receptor blockades only partially suppress cardiac hypertrophy of juvenile visceral steatosis mice with systemic carnitine deficiency

      LIFE SCIENCES
    22. Yotsumoto, S; Setoyama, M; Hozumi, H; Mizoguchi, S; Fukumaru, S; Kobayashi, K; Saheki, T; Kanzaki, T
      A novel point mutation affecting the tyrosine kinase domain of the TRKA gene in a family with congenital insensitivity to pain with anhidrosis

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    23. Kuwajima, M; Horiuchi, M; Harashima, H; Lu, KM; Hayashi, M; Sei, M; Ozaki, K; Kudo, T; Kamido, H; Ono, A; Saheki, T; Shima, K
      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 LETTERS
    24. SHIMADZU M; MATSUMOTO H; MATSUURA T; KOBAYASHI K; KOMAKI S; KIWAKI K; HOSHIDE R; ENDO F; SAHEKI T; MATSUDA I
      10 NOVEL MUTATIONS OF THE ORNITHINE TRANSCARBAMYLASE (OTC) GENE IN OTC DEFICIENCY

      Human mutation
    25. YOTSUMOTO S; SETOYAMA M; HOZUMI H; FUKUMARU S; MIZOGUCHI S; KOBAYASHI K; SAHEKI T; KANZAKI T
      A NOVEL POINT MUTATION AFFECTING THE TYROSINE KINASE DOMAIN OF THE NERVE GROWTH-FACTOR RECEPTOR GENE, TRKA, IN A FAMILY WITH CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS

      Journal of investigative dermatology
    26. FUKUMARU S; SHIMADA T; YOTSUMOTO S; KOBAYASHI K; OTAKE N; MASUDA M; TAKETANI S; SAHEKI T; KANZAKI T
      MOLECULAR DEFECT OF FERROCHELATASE IN 5 JAPANESE PATIENTS WITH ERYTHROPOIETIC PROTOPORPHYRIA

      Journal of investigative dermatology
    27. Yotsumoto, S; Fukumaru, S; Matsushita, S; Oku, T; Kobayashi, K; Saheki, T; Kanzaki, T
      A novel point mutation of the EDA gene in a Japanese family with anhidrotic ectodermal dysplasia

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    28. YOSHINOYASUDA I; KOBAYASHI K; AKIYAMA M; ITOH H; TOMOMURA A; SAHEKI T
      CALDECRIN IS A NOVEL-TYPE SERINE-PROTEASE EXPRESSED IN PANCREAS, BUT ITS HOMOLOG, ELASTASE-IV, IS AN ARTIFACT DURING CLONING DERIVED FROM CALDECRIN GENE

      Journal of Biochemistry
    29. KAKINOKI H; KOBAYASHI K; TERAZONO H; NAGATA Y; SAHEKI T
      MUTATIONS AND DNA DIAGNOSES OF CLASSICAL CITRULLINEMIA

      Human mutation
    30. HORIUCHI M; KOBAYASHI K; ASAKA N; SAHEKI T
      SECONDARY ABNORMALITY OF CARNITINE BIOSYNTHESIS RESULTS FROM CARNITINE REABSORPTIONAL SYSTEM DEFECT IN JUVENILE VISCERAL STEATOSIS MICE

      Biochimica et biophysica acta. Molecular basis of disease
    31. KAWAMOTO S; STRONG RW; KERLIN P; LYNCH SV; STEADMAN C; KOBAYASHI K; NAKAGAWA S; MATSUNAMI H; AKATSU T; SAHEKI T
      ORTHOTOPIC LIVER-TRANSPLANTATION FOR ADULT-ONSET TYPE-II CITRULLINEMIA

      Clinical transplantation
    32. SHAHEEN N; KOBAYASHI K; TEROZONO H; FUKUSHIGE T; HORIUCHI M; SAHEKI T
      CHARACTERIZATION OF MUTANT ARGININOSUCCINATE SYNTHETASE PROTEINS EXPRESSED IN BACTERIAL-CELLS

      The FASEB journal
    33. KOBAYASHI K; HORIUCHI M; SAHEKI T
      PANCREATIC SECRETORY TRYPSIN-INHIBITOR AS A DIAGNOSTIC MARKER FOR ADULT-ONSET TYPE-II CITRULLINEMIA

      Hepatology
    34. NAKAJIMA T; HORIUCHI M; YAMANAKA H; KIZAKI Z; INOUE F; KODO N; KINUGASA A; SAHEKI T; SAWADA T
      THE EFFECT OF CARNITINE ON KETOGENESIS IN PERFUSED LIVERS FROM JUVENILE VISCERAL STEATOSIS MICE WITH SYSTEMIC CARNITINE DEFICIENCY

      Pediatric research
    35. YOSHIMINE K; HORIUCHI M; SUZUKI S; KOBAYASHI K; ABDUL JM; MASUDA M; TOMOMURA M; OGAWA Y; ITOH H; NAKAO K; OSAME M; SAHEKI T
      ALTERED EXPRESSION OF ATRIAL-NATRIURETIC-PEPTIDE AND CONTRACTILE PROTEIN GENES IN HYPERTROPHIED VENTRICLE OF JVS MICE WITH SYSTEMIC CARNITINE DEFICIENCY

      Journal of Molecular and Cellular Cardiology
    36. TOMOMURA M; TOMOMURA A; ABUMUSA DA; HORIUCHI M; TAKIGUCHI M; MORI M; SAHEKI T
      SUPPRESSED EXPRESSION OF THE UREA CYCLE ENZYME GENES IN THE LIVER OF CARNITINE-DEFICIENT JUVENILE VISCERAL STEATOSIS (JVS) MICE IN INFANCY AND DURING STARVATION IN ADULTHOOD

      Journal of Biochemistry
    37. MASUDA M; KOBAYASHI K; HORIUCHI M; TERAZONO H; YOSHIMURA N; SAHEKI T
      A NOVEL GENE SUPPRESSED IN THE VENTRICLE OF CARNITINE-DEFICIENT JUVENILE VISCERAL STEATOSIS MICE

      FEBS letters
    38. FUJII M; YOSHINO I; SUZUKI M; HIGUCHI T; MUKAI A; AOKI T; FUKUNAGA T; SUGIMOTO Y; INOUE Y; KUSUDA J; SAHEKI T; SATO M; HAYASHI S; TAMAKI M; SUGANO T
      PRIMARY CULTURE OF CHICKEN HEPATOCYTES IN SERUM-FREE MEDIUM (PH 7.8) SECRETED ALBUMIN AND TRANSFERRIN FOR A LONG-PERIOD IN FREE GAS-EXCHANGE WITH THE ATMOSPHERE

      International journal of biochemistry & cell biology
    39. HOTTA K; KUWAJIMA M; ONO A; UENAKA R; NAKAJIMA H; MIYAGAWA J; NAMBA M; HANAFUSA T; HORIUCHI M; NIKAIDO H; HAYAKAWA J; KONO N; SAHEKI T; MATSUZAWA Y
      ALTERED EXPRESSION OF CARNITINE PALMITOYLTRANSFERASE-II IN LIVER, MUSCLE, AND HEART OF MOUSE STRAIN WITH JUVENILE VISCERAL STEATOSIS

      Biochimica et biophysica acta (G). General subjects
    40. STUMPEL F; KUCERA T; SAHEKI T; JUNGERMANN K
      A NERVAL ENTEROHEPATIC AXIS INCREASES HEPATIC GLUCOSE-UPTAKE IN THE ISOLATED JOINTLY PERFUSED SMALL-BOWEL AND LIVER OF THE RAT

      Hepatology
    41. HOTTA K; KUWAJIMA M; ONO A; NAKAJIMA H; HORIKAWA Y; MIYAGAWA J; NAMBA M; HANAFUSA T; HORIUCHI M; NIKAIDO H; HAYAKAWA J; SAHEKI T; KONO N; NOGUCHI T; MATSUZAWA Y
      DISORDERED EXPRESSION OF GLYCOLYTIC AND GLUCONEOGENIC LIVER-ENZYMES OF JUVENILE VISCERAL STEATOSIS MICE WITH SYSTEMIC CARNITINE DEFICIENCY

      Diabetes research and clinical practice
    42. YAZAKI M; IKEDA SI; TAKEI YI; YANAGISAWA N; MATSUNAMI H; HASHIKURA Y; KAWASAKI S; MAKUUCHI M; KOBAYASHI K; SAHEKI T
      COMPLETE NEUROLOGICAL RECOVERY OF AN ADULT PATIENT WITH TYPE-II CITRULLINEMIA AFTER LIVING-RELATED PARTIAL LIVER-TRANSPLANTATION

      Transplantation
    43. TOMOMURA M; TOMOMURA A; ABUMUSA DMA; SAHEKI T
      LONG-CHAIN FATTY-ACIDS SUPPRESS THE INDUCTION OF UREA CYCLE ENZYME GENES BY GLUCOCORTICOID ACTION

      FEBS letters
    44. TOMOMURA A; AKIYAMA M; ITOH H; YOSHINO I; TOMOMURA M; NISHII Y; NOIKURA T; SAHEKI T
      MOLECULAR-CLONING AND EXPRESSION OF HUMAN CALDECRIN

      FEBS letters
    45. SHAHEEN N; KOBAYASHI K; TERAZONO H; FUKUSHIGE T; HORIUCHI M; SAHEKI T
      CHARACTERIZATION OF HUMAN WILD-TYPE AND MUTANT ARGININOSUCCINATE SYNTHETASE PROTEINS EXPRESSED IN BACTERIAL-CELLS

      Enzyme & protein
    46. MIYAGAWA J; KUWAJIMA M; HANAFUSA T; OZAKI K; FUJIMURA H; ONO A; UENAKA R; NARAMA I; OUE T; YAMAMOTO K; KAIDOH M; NIKAIDO H; HAYAKAWA J; HORIUCHI M; SAHEKI T; MATSUZAWA Y
      MITOCHONDRIAL ABNORMALITIES OF MUSCLE-TISSUE IN MICE WITH JUVENILE VISCERAL STEATOSIS ASSOCIATED WITH SYSTEMIC CARNITINE DEFICIENCY

      Virchows Archiv
    47. NIKAIDO H; HORIUCHI M; HASHIMOTO N; SAHEKI T; HAYAKAWA J
      MAPPING OF JVS (JUVENILE VISCERAL STEATOSIS) GENE, WHICH CAUSES SYSTEMIC CARNITINE DEFICIENCY IN MICE, ON CHROMOSOME-11

      Mammalian genome
    48. SAHEKI T; MORI K; KOBAYASHI K; HORIUCHI M; SHIGE T; OBARA T; SUZUKI S; MORI M; YAMAMURA K
      IMPORTANCE OF ORNITHINE TRANSCARBAMYLASE (OTC) DEFICIENCY IN SMALL-INTESTINE FOR URINARY EROTIC ACID EXCRETION - ANALYSIS OF OTC-DEFICIENT SPF-ASH MICE WITH OTC TRANSGENE

      Biochimica et biophysica acta. Molecular basis of disease
    49. TOMOMURA A; YOSHINO I; AKIYAMA M; ITOH H; GAKUDOH S; KUMEGAWA M; NISHII Y; TOMOMURA M; NOIKURA T; SAHEKI T
      SERUM-CALCIUM DECREASING FACTOR FROM HUMAN PANCREAS

      Journal of bone and mineral research
    50. KOBAYASHI K; KAKINOKI H; FUKUSHIGE T; SHAHEEN N; TERAZONO H; SAHEKI T
      NATURE AND FREQUENCY OF MUTATIONS IN THE ARGININOSUCCINATE SYNTHETASEGENE THAT CAUSE CLASSICAL CITRULLINEMIA

      Human genetics
    51. TOMOMURA A; TOMOMURA M; FUKUSHIGE T; AKIYAMA M; KUBOTA N; KUMAKI K; NISHII Y; NOIKURA T; SAHEKI T
      MOLECULAR-CLONING AND EXPRESSION OF SERUM CALCIUM-DECREASING FACTOR (CALDECRIN)

      The Journal of biological chemistry
    52. BUNNAK J; HAMANA H; OGINO Y; SAHEKI T; YAMAGISHI A; OSHIMA T; DATE T; SHINOZAWA T
      OROTATE PHOSPHORIBOSYLTRANSFERASE FROM THERMUS-THERMOPHILUS - OVEREXPRESSION IN ESCHERICHIA-COLI, PURIFICATION AND CHARACTERIZATION

      Journal of Biochemistry
    53. SHINOZAWA T; SHIOZAKI S; EZAKI M; FUJINO H; TANAKA T; SAHEKI T
      REGULATION FACTOR FOR PLANARIAN REGENERATION

      Hydrobiologia
    54. KOBAYASHI K; NAKATA M; TERAZONO H; SHINSATO T; SAHEKI T
      PANCREATIC SECRETORY TRYPSIN-INHIBITOR GENE IS HIGHLY EXPRESSED IN THE LIVER OF ADULT-ONSET TYPE-II CITRULLINEMIA

      FEBS letters
    55. TOMOMURA M; IMAMURA Y; TOMOMURA A; HORIUCHI M; SAHEKI T
      ABNORMAL GENE-EXPRESSION AND REGULATION IN THE LIVER OF JVS MICE WITHSYSTEMIC CARNITINE DEFICIENCY

      Biochimica et biophysica acta. Molecular basis of disease
    56. HORIUCHI M; KOBAYASHI K; YAMAGUCHI S; SHIMIZU N; KOIZUMI T; NIKAIDO H; HAYAKAWA J; KUWAJIMA M; SAHEKI T
      PRIMARY DEFECT OF JUVENILE VISCERAL STEATOSIS (JVS) MOUSE WITH SYSTEMIC CARNITINE DEFICIENCY IS PROBABLY IN RENAL CARNITINE TRANSPORT-SYSTEM

      Biochimica et biophysica acta. Molecular basis of disease
    57. UMEKITA Y; KOBAYASHI K; SAHEKI T; YOSHIDA H
      NUCLEAR ACCUMULATION OF P53 PROTEIN CORRELATES WITH MUTATIONS IN THE P53 GENE ON ARCHIVAL PARAFFIN-EMBEDDED TISSUES OF HUMAN BREAST-CANCER

      Japanese journal of cancer research
    58. KOBAYASHI Y; SAHEKI T; SHINOZAWA T
      INDUCTION OF PC12 CELL-DEATH, APOPTOSIS, BY A SIALOGLYCOPEPTIDE FROM BOVINE BRAIN

      Biochemical and biophysical research communications
    59. KOBAYASHI K; SHAHEEN N; TERAZONO H; SAHEKI T
      MUTATIONS IN ARGININOSUCCINATE SYNTHETASE MESSENGER-RNA OF JAPANESE PATIENTS, CAUSING CLASSICAL CITRULLINEMIA

      American journal of human genetics
    60. TOMOMURA A; FUKUSHIGE T; TOMOMURA M; NOIKURA T; NISHII Y; SAHEKI T
      CALDECRIN PREFORM REQUIRES TRYPSIN ACTIVATION FOR THE ACQUISITION OF SERUM CALCIUM-DECREASING ACTIVITY

      FEBS letters
    61. HORIUCHI M; YOSHIDA H; KOBAYASHI K; KURIWAKI K; YOSHIMINE K; TOMOMURA M; KOIZUMI T; NIKAIDO H; HAYAKAWA J; KUWAJIMA M; SAHEKI T
      CARDIAC-HYPERTROPHY IN JUVENILE VISCERAL STEATOSIS (JVS) MICE WITH SYSTEMIC CARNITINE DEFICIENCY

      FEBS letters
    62. KOBAYASHI K; SHAHEEN N; KUMASHIRO R; TANIKAWA K; OBRIEN WE; BEAUDET AL; SAHEKI T
      A SEARCH FOR THE PRIMARY ABNORMALITY IN ADULT-ONSET TYPE-II CITRULLINEMIA

      American journal of human genetics


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Documento generato il 04/08/20 alle ore 11:41:01