Evaluation of mutation effects on UGT1A1 activity toward 17β-estradiol using liquid chromatography–tandem mass spectrometry
スポンサーリンク
概要
著者
-
Myeong Jin
Department Of Genetic Epidemiology Graduate School Of Medicine Kobe University
-
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
-
Sutomo Retno
Department Of Development And Aging Faculty Of Medicine Kobe University Graduate School Of Medicine
-
Wada Keiko
Department Of Public Health Kobe University Graduate School Of Medicine
-
Nakamura Hajime
Hyogo Prefectural Kobe Children's Hospital
-
Nishio Hisahide
Department Of Genetic Epidemiology Graduate School Of Medicine Kobe University
-
Myeong Jin
Department Of Pediatrics Kobe University Graduate School Of Medicine
-
Saiki Kayoko
Department Of Pediatrics Kobe University Graduate School Of Medicine
-
Yusoff Surini
Department Of Pediatrics University Sains Malaysia
-
Ayaki H
Department Of Public Health 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
-
Akutsu Tomoko
Kobe Pharmaceutical University
-
Yusoff Surini
Department Of Genetic Epidemiology Kobe University Graduate School Of Medicine
関連論文
- Novel Mutations in 21 Patients with Tuberous Sclerosis Complex and Variation of Tandem Splice-acceptor Sites in TSC1 exon 14
- ベトナム人脊髄性筋萎縮症患者におけるSMN2遺伝子量ならびにNAIP遺伝子量について
- Deletion of the SMN1 and NAIP Genes in Vietnamese Patients with Spinal Muscular Atrophy
- Molecular Genetic Analyses of Five Vietnamese Patients with Spinal Musucular Atrophy
- 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
- チャイルドシート着用が新生児の呼吸循環機能に与える影響 : ベット状シートと椅子状シートの比較
- CHANGES IN ACTIVITIES OF DAILY LIVING,PHYSICAL FITNESS, AND DEPRESSIVE SYMPTOMS AFTER SIX-MONTH PERIODIC WELL-ROUNDED EXERCISE PROGRAMS FOR OLDER ADULTS LIVING IN NURSING HOMES OR SPECIAL NURSING FACILITIES
- Association Between Low Birth Weight and Elevated White Blood Cell Count in Adulthood Within a Japanese Population
- Complementation Group Analysis of Four Chinese Xeroderma Pigmentosum Patients
- HnRNP C1/C2 May Regulate Exon 7 Splicing in the Spinal Muscular Atrophy Gene SMN1
- 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)
- Mutation Analysis of the Ornithine Transcarbamylase (OTC) Gene in Five Japanese OTC Deficiency Patients Revealed Two Known and Three Novel Mutations Including a Deep Intronic Mutation
- 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
- Nonsense Mutations of the ZFHX1B Gene in Two Japanese Girls with Mowat-Wilson Syndrome
- Prenatal diagnosis of a Japanese family at risk for tay-sachs disease : application of a fluorescent competitive allele-specific polymerase chain reaction (pcr) method
- Eating Fast Leads to Obesity : Findings Based on Self-administered Questionnaires among Middle-aged Japanese Men and Women
- A Positive Association between Leptin and Blood Pressure of Normal Range in Japanese Men
- Factors Related to Frequency of Engaging in Outside Activities among Elderly Persons Living an Independent Life at Home
- Birth Weight and Adult Hypertension : Cross-Sectional Study in a Japanese Workplace Population
- 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
- 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
- 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
- Spectrum of Spontaneous Mutations in the Cyclic AMP Receptor Protein Gene on Chromosomal DNA of Escherichia coli
- Double fetus-in-fetu : A case report with three-dimensional computed tomography findings
- Structural/Physicochemical Properties of Corycavidine, a Key Intermetabolite in the Biosynthesis of Isoquinoline Alkaloids, Elucidated by X-Ray Crystallography, Solution Conformation and Thermal Behavior Analyses, and Energy Calculations
- Eyelid myoclonia with absences in monozygotic twins
- Clinical features of infants with subependymal germinolysis and choroid plexus cysts
- Evaluation of change of cerebral circulation by SpO_2 in preterm infants with apneic episodes using near infrared spectroscopy
- A novel cryptic exon in intron 3 of the dystrophin gene was incorporated into dystrophin mRNA with a single nucleotide deletion in exon 5
- Gly71Arg mutation of the bilirubin UDP-glucuronosyltransferase 1A1 gene is associated with neonatal hyperbilirubinemia in the Japanese population
- Molecular genetics of spinal muscular atrophy : contribution of the NAIP gene to clinical severity
- Oligonucleotides against a splicing enhancer sequence led to dystrophin production in muscle cells from a Duchenne muscular dystrophy patient
- Purine-rich exon sequences are not necessarily splicing enhancer sequence in the dystrophin gene
- 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
- Classification of Congenital Hypothyroidism Based on Scintigraphy, Ultrasonography and the Serum Thyroglobulin Level
- Preventive effects of dexamethasone on hypoxic-ischemic brain damage in the neonatal rat
- A COMMON MUTATION IN METHYLENETETRAHYDROFOLATE REDUCTASE GENE AMONG THE JAPANESE POPULATION
- Poor correlation between hemolysis and jaundice in glucose 6-phosphate dehydrogenase-deficient babies
- Recovery from Ultraviolet Light-Induced Depression of Ribosomal RNA Synthesis in Normal Human, Xeroderma Pigmentosum and Cockayne Syndrome Cells
- Recovery of RNA Synthesis Coupled with In Vitro Repair of UV Damage in Plasmid DNA
- Recovery from UV-induced initial depression of ribosomal RNA synthesis in normal and xeroderma piginentosum group A cells
- In Vitro Repair System using Human cell Extracts
- Docosahexaenoic Acid Ethyl Ester and its Ultraviolet Degradation Products Showed DNA-Breaking Activity in Vitro and Cytotoxic Effects on the HSC-4 Cell Line
- The C677T mutation in the methylene tetrahydrofolate reductase gene increases serum uric acid in elderly men
- Spectrum of Spontaneous Mutation of E. Ccli Crp Gene
- Serum Phospholipid Transfer Protein Mass as a Possible Protective Factor for Coronary Heart Diseases
- Cardiac Involvement in a Family with Becker Muscular Dystrophy.
- Evaluation of mutation effects on UGT1A1 activity toward 17β-estradiol using liquid chromatography–tandem mass spectrometry
- Herbal Medicine Containing Licorice May Be Contraindicated for a Patient with an HSD11B2 Mutation
- SMN2 and NAIP gene dosages in Vietnamese patients with spinal muscular atrophy
- A Homozygous Mutation in UGT1A1 Exon 5 May Be Responsible for Persistent Hyperbilirubinemia in a Japanese Girl with Gilbert’s Syndrome
- Persistent detection of a novel MLL-SACM1L rearrangement in the absence of leukemia
- Ligand orientation governs conjugation capacity of UDP-glucuronosyltransferase 1A1
- Screening of the LIX1 gene in Japanese and Malaysian patients with SMA and/or SMA-like disorder
- Combination of SMN2 copy number and NAIP deletion predicts disease severity in spinal muscular atrophy
- Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy
- Epigallocatechin gallate inhibits sphere formation of neuroblastoma BE(2)-C cells
- Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center
- Valproic acid increases SMN2 expression and modulates SF2/ASF and hnRNPA1 expression in SMA fibroblast cell lines