タイ国のGilbert症候群患者姉妹のUGT1A1遺伝子に認められた新しいミスセンス異変
スポンサーリンク
概要
- 論文の詳細を見る
- 2002-08-01
著者
-
NAKAMURA Hajime
Department of Pediatrics, Kobe University School of Medicine
-
サデワ アフマド・ハミム
Department Of Public Health Kobe University Graduate School Of Medicine
-
Sutomo Retno
Department Of Pediatrics Gadjah Mada University School Of Medicine
-
Sutomo Retno
神戸大学 医学系研究科公衆衛生学
-
Sadewa Ahmad
神戸大学 大学院医学系研究科小児
-
Hamim Ahmad
Department Of Environmental Health And Safety Faculty Of Medicine Kobe University Graduate School Of
-
Sutomo Retno
Department Of Development And Aging Faculty Of Medicine Kobe University Graduate School Of Medicine
-
Yokoyama Naoki
Department of Pediatrics, Kobe University Graduate School of Medicine
-
LAOSOMBAT Vichai
Department of Pediatrics, Faculty of Medicine, Prince of Songkla University
-
MATSUNO MASAFUMI
Department of International and Environmental Medical Sciences, Faculty of Medicine, Kobe University
-
NISHINO HISAHIDE
Department of Environmental Health and Safety, Faculty of Medicine, Kobe University Graduate School
-
Nakamura Hajime
Hyogo Prefectural Kobe Children's Hospital
-
Nishio Hisahide
Department Of Genetic Epidemiology Graduate School Of Medicine Kobe University
-
Nishio Hisahide
Department Of Pubic Health And Genetic Epidemiology Kobe University Graduate School Of Medicine
-
Laosombat Vichai
Department Of Pediatrics Faculty Of Medicine Prince Of Songkla University
-
Yokoyama Naoki
Department Of Pediatrics Kobe University Graduate School Of Medicine
-
Nakamura H
Hyogo Prefectural Kobe Children's Hospital
-
Nishio H
Department Of Public Health Kobe University Graduate School Of Medicine
-
Mizutori Masakazu
Department Of Pediatrics Graduate School Of Medicine Kobe University
-
Nakamura Hajime
Department Of Biological Responses Institute For Virus Research Kyoto University
-
Yokoyama Naoki
Department Of Mechanical Engineering Faculty Of Engineering Okayama University
-
Yokoyama Naoki
Department Of Development And Aging Faculty Of Medicine Kobe University Graduate School Of Medicine
-
Nakamura Hajime
Department Of Development And Aging Faculty Of Medicine Kobe University Graduate School Of Medicine
関連論文
- Deletion of the SMN1 and NAIP Genes in Vietnamese Patients with Spinal Muscular Atrophy
- First Demonstration of Electrically Driven 1.55μm Single-Photon Generator
- Single-photon generator for telecom applications
- Development of Electrically Driven Single-Photon Emitter at Optical Fiber Bands
- Complete skipping of exon 66 due to novel mutations of the dystrophin gene was identified in two Japanese families of Duchenne muscular dystrophy with severe mental retardation
- Phonon Assisted Tunneling and P/V-Ratio in a Magnetic Confined Quasi 0D InGaAs/InAlAs Resonant Tunneling Diode
- Size, density, and shape of InAs quantum dots in closely stacked multilayers grown by the Stranski-Krastanow mode
- Lattice Deformation and Ga Diffusion Concerning InAs Self-Assembled Quantum Dots on GaAs(100) as a Function of Growth Interruption Time
- InAs Self-Assembled Quantum Dots Coupled with GaSb Monolayer Quantum Well
- Quantum Dot Infrared Photodetector Using Modulation Doped InAs Self-Assembled Quantum Dots
- Effect of Size Fluctuations on the Photoluminescence Spectral Linewidth of Closely Stacked InAs Self-Assembled Quantum Dot Structures
- Crystallographic Properties of Closely Stacked InAs Quantum Dots Investigated by Ion Channeling
- Threading Dislocations in Multilayer Structure of InAs Self-Assembled Quantum Dots
- Dynamic Properties of InAs Self-Assembled Quantum Dots Evaluated by Capacitance-Voltage Measurements
- Interdiffusion between InAs Quantum Dots and GaAs Matrices
- Narrow Photoluminescemce Line Width of Closely Stacked InAs Self-Assembled Quantum Dot Structures
- Self-Formed InGaAs Quantum Dot Lasers with Multi-Stacked Dot Layer
- New Optical Memory Structure Using Self-Assembled InAs Quantum Dots
- Time-Resolved Study of Carrier Transfer among InAs/GaAs Multi-Coupled Quantum Dots
- Stacked InAs Self-Assembled Quantum Dots on (001) GaAs Grown by Molecular Beam Epitaxy
- InAs/GaAs Multi-Coupled Quantum Dots Structure Enabling High-Intensity, Near-1.3-μm Emission due to Cascade Carrier Tunneling
- Phonon Assisted Tunneling and Peak-to-Valley Ratio in a Magnetically Confined Quasi Zero Dimensional InGaAs/InAlAs Resonant Tunneling Diode
- InGaAs/GaAs Tetrahedral-Shaped Recess Quantum Dot (TSR-QD)Technology (Special Issue on Quantum Effect Devices and Their Fabrication Technologies)
- Novel InGaAs/GaAs Quantum Dot Structures Formed in Tetrahedral-Shaped Recesses on (111) B GaAs Substrate Using Metalorganic Vapor Phase Epitaxy
- Quantum Dots Infrared Photodetector Using Modulation Doped InAs Self-Assembled Quantum Dots
- Crystal Structure and Hydrogen Absorption Properties of La(Ni, M)_x(M=Al, Co, Mn, Si. x=3-7)Melt-Spun Ribbons
- Overexpression of thioredoxin in transgenic mice attenuates adriamycin-induced cardiomyopathy
- OE-230 Acute Myocardial Infarction with High Level of Remnant-like Lipoproteins Particles Cholesterol Has More Potent Vulnerable Plaques at the Culprit Lesion(Acute myocardial infarction, clinical (pathophysiology)-1 (IHD) OE39,Oral Presentation (English)
- OE-185 Serum Level of Remnant-like Lipoproteins Particles Cholesterol can be a Predictor of Vasospastic Angina Pectoris(Angina pectoris, basic/clinical-1 (IHD) OE31,Oral Presentation (English),The 70th Anniversary Annual Scientific Meeting of the Japanese
- OE-033 Amount of Thrombus in Culprit Lesion is in Proportion to Serum hs-CRP Level at 1 Month after Myocardial Infarction Onset(Acute myocardial infarction, clinical (diagnosis/treatment)-1 (IHD) OE6,Oral Presentation (English),The 70th Anniversary Annual
- Recent Decline in Hospital Mortality Among Patients With Acute Myocardial Infarction
- Higher Remnant-like Lipoproteins Particles Cholesterol Levels Make Plaques-thrombi Complex Volume Greater at the Culprit Lesion of Acute Myocardial Infarction (Acute Myocardial Infarction, Clinical (Pathophysiology) 7 (IHD), The 69th Annual Scientific Mee
- Thioredoxin and Oxidized Lipoprotein are Increased in Unstable Plaque Obtained by Directional Coronary Atherectomy(Angina Pectoris, Basic/Clinical 5 (IHD), The 69th Annual Scientific Meeting of the Japanese Circulation Society)
- Difference in Thioredoxin Expression in Viral Myocarditis in Inbred Strains of Mice
- Serum Thioredoxin (TRX) Levels in Patients With Heart Failure
- PJ-164 A Hypertensive Response to Exercise May Cause Wall Motion Abnormalities in the Absence of Coronary Artery disease(Echo/Doppler-12 (I) PJ28,Poster Session (Japanese),The 70th Anniversary Annual Scientific Meeting of the Japanese Circulation Society)
- PJ-145 Utility of exercise echocardiography using hand-carried cardiac ultrasound (HCU) device for diagnosing coronary artery diseases(Echo/Doppler 1 (I) : PJ24)(Poster Session (Japanese))
- Ligation of Medically Refracted Patent Ductus Arteriosus (PDA) in an Extremely Low Body Weight Premature Infant
- A Resonant-Tunneling Bipolar Transistor (RBT) : A New Functional Device with High Current Gain
- A WSi/TiN/Au Gate Self-Aligned GaAs MESFET with Selectively Grown n^+-Layer using MOCVD
- Tunneling Hot Electron Transistor Using GaAs/AlGaAs Heterojunctions
- GHz Range Electromagnetic Wave Absorption Properties of M and W-Type Two Phase Hexaferrite
- Compositional Dependence of the Electromagnetic Wave Absorption Properties of BaFe_Ti_xMn_yO_ in the GHz Frequency Range
- Barium M-type Ferrite as an Electromagnetic Microwave Absorber in the GHz Range
- Non-Ruptured Eroded Plaque in the Culprit Lesion Develops Less Neointimal Proliferation after Stenting Compared with Ruptured Plaque
- Ischemia-Related Lesion Characteristics in Patients with Vasospastic Angina : Analysis by Angioscopy and Intravascular Ultrasound
- Clinical Differences of Ruptured Plaque and Non-Ruptured Plaque of Culprit Lesions in Patients with Unstable Angina Pectoris
- Human V5 demonstrated by magnetoencephalography using random dot kinematograms of different coherence levels
- 良性家族性新生児痙攣を有する日本人一家系内の生殖細胞に生じたKCNQ2遺伝子変異(p. R213W)
- Ureaplasma urealyticum and Mycoplasma hominis Presence in Umbilical Cord is Associated with Pathogenesis of Funisitis
- 日本人のSMN1遺伝子上にC117T多型を見出した
- Quantification of lysophosphatidylcholines and phosphatidylcholines using liquid chromatography-tandem mass spectrometry in neonatal serum
- Evaluation of mutation effects on UGT1A1 activity toward 17β-estradiol using liquid chromatography-tandem mass spectrometry
- Influence of Substrate Materials upon Fabrication of Aluminum Nitride Coatings by Reactive RF Plasma Spraying
- Pharmacokinetics of Pirarubicin in Pediatric Patients
- Adenovirus-Mediated Transduction of Escherichia coli Uracil Phosphoribosyltransferase Gene Increases the Sensitivity of Esophageal Cancer Cells to 5-Fluorouracil
- Successful Immunoglobulin Treatment for Fulminant Myocarditis and Serial Analysis of Serum Thioredoxin : A Case Report
- タイ国のGilbert症候群患者姉妹のUGT1A1遺伝子に認められた新しいミスセンス異変
- Pharmacokinetics of Zonisamide ; Saturable Distribution into Human and Rat Erythrocytes and into Rat Brain
- High Current Gain AlGaAs/GaAs Heterojunction Bipolar Transistors with Carbon-Doped Base Grown by Gas Source Molecular Beam Epitaxy Using Trimethylamine Alane as the Aluminum Source
- Carbon-Doped-Base AlGaAs/GaAs HBTs Grown by Gas-Source Molecular Beam Epitaxy Using Only Gaseous Sources
- Gas Source MBE Growth of GaAs/AlGaAs Heterojunction Bipolar Transistor with a Carbon Doped Base Using Only Gaseous Sources
- 新生児慢性肺疾患に対するデキサメサゾン療法が呼吸機能に及ぼす効果 : 病型別検討
- Serum 8-Hydroxy-2'-Deoxyguanosine (8-OHdG), a Marker of Oxidative Damage to DNA, Is Elevated in Patients with Heart Failure
- Near-1.3-μm High-Intensity Photoluminescence at Room Temperature by InAs/GaAs Multi-Coupled Quantum Dots
- Screening for G71R mutation of the UGT1A1 gene in the Javanese-Indonesian and Malay-Malaysian populations
- インドネシア東ジャワ地方の前頭骨篩骨脳瘤患者にMTHFR遺伝子のC677T変異は認められなかった
- The C677T Mutation in the Methylenetetrahydrofolate Reductase Gene among the Indonesian Javanese Population
- ACE Gene Polymorphism in Children with Nephrotic Syndrome in the Indonesian Population
- The Effect of Co on HDDR Phenomena in the Sm_3(Fe,V)_ Compound
- An Investigation of HDDR Phenomena in the Sm_3(Fe, V)_ Compound
- Microstructural changes in Nd_2Fe_B permanent magnet alloys during HDDR phenomena
- N-acetylcysteine improves cytotoxic activity of cirrhotic rat liver-associated mononuclear cells
- Elevation of plasma thioredoxin levels in HIV-infected individuals
- Double fetus-in-fetu : A case report with three-dimensional computed tomography findings
- Electric Field Effect in LaTiO_3/SrTiO_3 Heterostructure
- Formation of Sb Nanocrystals in SiO_2 Film Using Ion Implantation Followed by Thermal Annealing
- Control of oxidative stress and reduction in biochemical markers by Vitamin E treatment in patients with nonalcoholic steatohepatitis : a pilot study
- Electric Field Effect in LaTiO_3/SrTiO_3 Heterostructure
- Efficacy of antibiotics against influenza-like illness in an influenza epidemic
- Eyelid myoclonia with absences in monozygotic twins
- Pallister-Mosaic syndrome and neuronal migration disorder
- Clinical features of infants with subependymal germinolysis and choroid plexus cysts
- A novel cryptic exon in intron 3 of the dystrophin gene was incorporated into dystrophin mRNA with a single nucleotide deletion in exon 5
- Oligonucleotides against a splicing enhancer sequence led to dystrophin production in muscle cells from a Duchenne muscular dystrophy patient
- End-tidal carbon monoxide is predictive for neonatal non-hemolytic hyperbilirubinemia
- Non-homologous recombination between Alu and LINE-1 repeats caused a 430-kb deletion in the dystrophin gene : a novel source of genomic instability
- A simple explanation for a case of incompatibility with the reading frame theory in Duchenne muscular dystrophy: failure to detect an aberrant restriction fragment in Southern blot analysis
- Vascular involvement in benign infantile mitochondrial myopathy caused by reversible cytochrobe c oxidase dificiency
- Severe neonatal nemaline myopathy with delayed maturation of muscle
- Preventive effects of dexamethasone on hypoxic-ischemic brain damage in the neonatal rat
- Hydrogen Absorption Properties of Amorphous and Crystalline La-Ni-B Melt-Spun Ribbons
- Phase Relation of Sm-Fe-V Alloys around the Compound Sm_3(Fe, V)_
- GAS-LIQUID TURBULENT TWO PHASE FLOW ALONG VERTICAL FLAT PLATE WITH GAS EVOLUTION
- Phase II Trial of 5-Fluorouracil and Low-Dose Cisplatin in Patients with Squamous Cell Carcinoma of the Esophagus
- Two cases of colonic necrosis following aortoiliac surgery due to coronary-induced cardiogenic shock
- Neonatal Renal Artery Blood Flow Velocities Using Color Doppler Ultrasonography
- Factors Affecting Prognosis of Intrauterine Hydrocephalus Diagnosed in the Third Trimester : Computerized Data Analysis on Controversies in Fetal Surgery
- PSYCHOLOGICAL AND PHYSICAL REACTIONS ON CHILDREN AFTER THE HANSHIN-AWAJI EARTHQUAKE DISASTER (阪神淡路大震災後の子ども達における精神的及び身体的反応)
- Evaluation of mutation effects on UGT1A1 activity toward 17β-estradiol using liquid chromatography–tandem mass spectrometry