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111.
Kumaki S Ishii N Minegishi M Ohashi Y Hakozaki I Nonoyama S Imai K Morio T Tsuge I Sakiyama Y Miyanoshita A Miura J Mayumi M Heike T Katamura K Takada H Izumi I Kamizono J Hibi S Sasaki H Kimura M Kikuta A Date Y Sako M Tanaka H Sano K Sugamura K Tsuchiya S 《Human genetics》2000,107(4):406-408
X-linked severe combined immunodeficiency (X-SCID) is a rare fatal disease that is caused by mutations in the gene encoding the gammac chain. In this study, 27 unrelated Japanese patients with X-SCID were examined in terms of their genetic mutations and surface expression of the gammac chain. Among 25 patients examined, excluding two patients with large deletions, 23 different mutations were identified in the IL2RG gene, including 10 novel mutations. One patient bearing an extracellular mutation and all three of the patients bearing intracellular mutations after exon 7 expressed the gammac chain on the cell surface. Overall, 84% of patients lacked surface expression of the gammac chain leading to a diagnosis of X-SCID. 相似文献
112.
113.
Background
Many markers have been indicated as predictors of type 2 diabetes. However, the question of whether or not non-glycaemic (blood) biomarkers and non-blood biomarkers have a predictive additive utility when combined with glycaemic (blood) biomarkers is unknown. The study aim is to assess this additive utility in a large Japanese population.Methods
We used data from a retrospective cohort study conducted from 1998 to 2002 for the baseline and 2002 to 2006 for follow-up, inclusive of 5,142 men (mean age of 51.9 years) and 4,847 women (54.1 years) at baseline. The cumulative incidence of diabetes [defined either as a fasting plasma glucose (FPG) ≥7.00 mmol/l or as clinically diagnosed diabetes] was measured. In addition to glycaemic biomarkers [FPG and hemoglobin A1c (HbA1c)], we examined the clinical usefulness of adding non-glycaemic biomarkers and non-blood biomarkers, using sensitivity and specificity, and the area under the curve (AUC) of the receiver operating characteristics.Results
The AUCs to predict diabetes were 0.874 and 0.924 for FPG, 0.793 and 0.822 for HbA1c, in men and women, respectively. Glycaemic biomarkers were the best and second-best for diabetes prediction among the markers. All non-glycaemic markers (except uric acid in men and creatinine in both sexes) predicted diabetes. Among these biomarkers, the highest AUC in the single-marker analysis was 0.656 for alanine aminotransferase (ALT) in men and 0.740 for body mass index in women. The AUC of the combined markers of FPG and HbA1c was 0.895 in men and 0.938 in women, which were marginally increased to 0.904 and 0.940 when adding ALT, respectively.Conclusions
AUC increments were marginal when adding non-glycaemic biomarkers and non-blood biomarkers to the classic model based on FPG and HbA1c. For the prediction of diabetes, FPG and HbA1c are sufficient and the other markers may not be needed in clinical practice. 相似文献114.
Kimihiko Matsusue Daisuke Aibara Risa Hayafuchi Kohei Matsuo Soichi Takiguchi Frank J. Gonzalez Shigeru Yamano 《FEBS letters》2014
The nuclear hormone receptors liver X receptor α (LXRα) and peroxisome proliferator-activated receptor γ (PPARγ) play key roles in the development of fatty liver. To determine the link between hepatic PPARγ and LXRα signaling and the development of fatty liver, a LXRα-specific ligand, T0901317, was administered to normal OB/OB and genetically obese (ob/ob) mice lacking hepatic PPARγ (PparγΔH). In ob/ob-PparγΔH and OB/OB-PparγΔH mice, as well as ob/ob-PparγWT and OB/OB-PparγWT mice, the liver weights and hepatic triglyceride levels were markedly increased in response to T0901317 treatment. These results suggest that hepatic PPARγ and LXRα signals independently contribute to the development of fatty liver. 相似文献
115.
Sumaoka J Furuki K Kojima Y Shibata M Hirao K Takeda N Komiyama M 《Nucleosides, nucleotides & nucleic acids》2006,25(4-6):523-538
The hydrolysis of cyclic adenosine 3',5'-monophosphate and 2'-deoxythymidylyl(3'-5')2'-deoxythymidine by Ce(NH4)2(NO3)6 was kinetically studied. The rate of hydrolysis was fairly proportional to the concentration of [Ce2(IV) (OH)4]4+ , showing that this is the catalytically active species. According to quantum-chemical calculation, the two Ce(IV) ions in this [Ce2(IV) (OH)4]4+ cluster are bridged by two OH residues. Upon the complex formation with H2 PO4- (a model compound for the phosphodiesters), these two Ce(IV) ions bind the two oxygen atoms of the substrate and enhance the electrophilicity of the phosphorus atom. The catalytic mechanism of Ce(IV)-induced hydrolysis of phosphodiesters has been proposed on the basis these results. 相似文献
116.
Masahiro Iwasaku Maki Shinzawa Shiro Tanaka Kimihiko Kimachi Koji Kawakami 《BMC endocrine disorders》2017,17(1):58
Background
Adrenal crisis (AC) occurs in various clinical conditions but previous epidemiological studies in AC are limited to chronic adrenal insufficiency (AI) and sepsis. The aim of this study was to investigate characteristics of AC patients, including predisposing diseases and to describe candidate risk factors for AC such as comorbidities and glucocorticoid (GC) therapy.Methods
We conducted a retrospective cohort study using a claims database on 7.4 million patients from 145 acute care hospitals between January 1, 2003 and April 30, 2014. We identified AC patients who met the following criteria: 1) disease name with ICD-10 corresponded with AI; 2) therapeutic GC administration (hydrocortisone equivalent dose ≥100 mg/day); 3) admission; and 4) age ≥18 years.Results
We identified 504 patients with AC (median age, 71 years; interquartile range, 59 to 80; 50.6% male). As predisposing conditions, primary AI and central AI accounted for 23 (4.6%) and 136 patients (27.0%), respectively. In the remaining AC patients (68.5%), comorbidities such as cancer, autoimmune diseases, and renal failure were frequent. The most frequent indication for hospitalization was AC (16.3%), followed by pituitary disease (14.7%), cancer (14.7%), AI-related clinical symptoms (11.5%), and infection (11.1%). Admission under oral GC treatment was reported in 104 patients (20.6%). Twenty-six patients were admitted within 14 days after GC cessation (5.2%).Conclusions
These findings present an overview of patients with AC in general practice settings, clarifying that predisposing factors for AC were complicated and that patients other than those with chronic AI were older and had more comorbid conditions than those with primary and central AI.117.
Kimihiko Satoh Satoshi Yamada Yukiko Koike Yasuo Igarashi Shinya Toyokuni Takayuki Kumano Takenori Takahata Makoto Hayakari Shigeki Tsuchida Koji Uchida 《Analytical biochemistry》1999,270(2):323-328
A simple and rapid enzyme-linked immunosorbent assay (ELISA) method for quantitation of acrolein and 4-hydroxy-2-nonenal (HNE)-modified proteins was developed. Microtiter plate wells were precoated and blocked simultaneously with epitope-bound bovine caseins as matrix proteins, and aldehyde-modified proteins were quantitated by a competition assay with a monoclonal antibody specific for acrolein-modified lysine or HNE-modified histidine epitopes. Minimal reaction times required for the coating/blocking; first monoclonal antibody and the peroxidase-conjugated second antibody binding steps were 3, 3, and 7 min, respectively, the former two steps being found to be or akin to diffusion-rate-limiting reactions. The convenient ELISA should find an application for analyses of the intricate processes involved in oxidative stress and carcinogenic insult. The epitope-attachment methodology may also be advantageous for the quantitation of various other biologically important haptenic molecules. 相似文献
118.
G Protein-Coupled Receptor Kinases 总被引:2,自引:0,他引:2
119.
Yasushi Koyama Hisaaki Uchida Shigeru Oyama Tetsuo Iwaki Kimihiko Harada 《Biopolymers》1977,16(8):1795-1813
Rotational isomerism of N-acetylamino acid methylamides having serine, tyrosine, histidine, and proline residues was investigated by means of Raman spectroscopy. The Raman spectra of each compound for solid states (crystalline or glassy) as well as for aqueous solution were compared with each other. Different kinds of rotational isomers were found to exist in the different solid states; three such solid states for N-acetylserine methylamide, two for N-acetyltyrosine methylamide, and one for N-acetylhistidine methylamide were found in the present investigation. Additional rotational isomers were found to exist in aqueous solutions. The results indicated that the inherent relative stability of the rotational isomers differs little and is very dependent on intermolecular interaction, especially that due to hydrogen bonds. The possible molecular conformations are discussed on the basis of x-ray results now available both for the present compounds and for proteins. 相似文献