Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy

スポンサーリンク

概要

• 論文の詳細を見る
• 2010-04-01

著者

• Matsuo M

  Department Of Pediatrics Graduate School Of Medicine Kobe University

• Miyamoto Masaki

  Second Department Of Internal Medicine Kobe University School Of Medicine

• Matsuo Masafumi

  Department Of Pediatrics Graduate School Of Medicine Kobe University

• 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

• Nishio Hisahide

  Department Of Environmental Medicine Kobe University

• Yusoff Surini

  Department Of Pediatrics University Sains Malaysia

• Lindhout Dick

  Department Of Medical Genetics University Medical Center Utrecht

• Nishio H

  Department Of Public Health Kobe University Graduate School Of Medicine

• Herini Elisabeth

  Department Of Pediatrics Faculty Of Medicine Gadjah Mada University

• Mizutori Masakazu

  Department Of Pediatrics Graduate School Of Medicine Kobe University

• Yusoff Surini

  Department Of Genetic Epidemiology Kobe University Graduate School Of Medicine

• VAN KEMPEN

  Department of Medical Genetics, University Medical Center Utrecht

• PATRIA Suryono

  Department of Pediatrics, Faculty of Medicine, Gadjah Mada University

• Van Kempen

  Department Of Medical Genetics University Medical Center Utrecht

• Patria Suryono

  Department Of Pediatrics Faculty Of Medicine Gadjah Mada University

• Herini Elisabeth

  Department Of Genetic Epidemiology Kobe University Graduate School Of Medicine

• NISHIO Hisahide

  Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine

• YUSOFF Surini

  Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine

• MATSUO Masafumi

  Department of Medical Rehabilitation, Faculty of Rehabilitation, Kobegakuin University

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
• Clinical Types, Molecular Genetic Diagnosis & Genetic : clinical Correlation in Patients with Spinal Muscular Atrophy
• 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
• 全国調査における典型的溶血性尿毒症症候群の重症化因子の検討
• Association of Cumulative Cyclosporine Dose with Its Irreversible Nephrotoxicity in Japanese Patients with Pediatric-Onset Autoimmune Diseases(Biopharmacy)
• 志賀毒素を介さず発症した溶血性尿毒症症候群5症例の予後と腎組織像に関する検討
• A novel mutation in KCNJ1 in a Bartter syndrome case diagnosed as pseudohypoaldosteronism
• 小児SLE患者に対する高用量ミゾリビン投与の試み
• Prediction of systemic exposure to cyclosporine in Japanese pediatric patients
• Rituximab treatment for posttransplant lymphoproliferative disorder (PTLD) induces complete remission of recurrent nephrotic syndrome
• The effect of aldosterone blockade in patients with Alport syndrome
• 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
• Molecular Diagnosis, Correlation of Clinical and Deletion Data in Duchenne Muscular Dystrophy
• 2D and 3D Visualization of Ductal Carcinoma in situ (DCIS) using X-Ray Refraction Contrast
• Genetic polymorphisms associated with adverse events and elimination of methotrexate in childhood acute lymphoblastic leukemia and malignant lymphoma
• A 2-bp deletion in exon 74 of the dystrophin gene does not clearly induce muscle weakness
• Effects of Polymorphisms of MDR1, MRP1, and MRP2 Genes on Their mRNA Expression Levels in Duodenal Enterocytes of Healthy Japanese Subjects(Biopharmacy)
• The C677T Mutation in the Methylenetetrahydrofolate Reductase Gene among the Indonesian Javanese Population
• 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)
• A Strong Exonic Splicing Enhancer in Dystrophin Exon 19 Achieve Proper Splicing Without an Upstream Polypyrimidine Tract
• Tandem duplications of two separate fragments of the dystrophin gene in a patient with Duchenne muscular dystrophy
• Ureaplasma urealyticum and Mycoplasma hominis Presence in Umbilical Cord is Associated with Pathogenesis of Funisitis
• 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
• Mosaic Tetrasomy 9p Case with the Phenotype Mimicking Klinefelter Syndrome and Hyporesponse of Gonadotropin-Stimulated Testosterone Production
• 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
• Molecular Heterogeneity of Glucose-6-Phosphate Dehydrogenase Deficiency in Vietnam
• Nobel cryptic exons identified in introns 2 and 3 of the human dystrophin gene with duplication of exons 8-11
• Prenatal diagnosis of a Japanese family at risk for tay-sachs disease : application of a fluorescent competitive allele-specific polymerase chain reaction (pcr) method
• 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
• 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
• ACE Gene Polymorphism in Children with Nephrotic Syndrome in the Indonesian Population
• HILA-DQB1 locus and the development of atrophic gastritis with Helicobacter pylori infection
• Double fetus-in-fetu : A case report with three-dimensional computed tomography findings
• Comparative study on deletions of the dystrophin gene in three Asian populations
• Screening for glucose-6-phosphate dehydrogenase deficiency using a modified formazan method : A pilot study on Filipino male newborns
• Molecular Heterogeneity of Glucose-6-Phosphate Dehydrogenase Deficiency in Malays in Malaysia
• 3冬季にわたる、インフルエンザウイルス上気道感染症(FLU-URTI)流行時におけるRSV下気道感染症(RSV-LRTI)患者の臨床的重症度の検討
• 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
• 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
• 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
• A COMMON MUTATION IN METHYLENETETRAHYDROFOLATE REDUCTASE GENE AMONG THE JAPANESE POPULATION
• 21-Hydroxylase Deficiency Presenting as Massive Bilateral Adrenal Masses in the Seventh Decade of Life
• Maple Syrup Urine Disease : from the Clinics to the Lab and back to the Clinics
• Poor correlation between hemolysis and jaundice in glucose 6-phosphate dehydrogenase-deficient babies
• 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
• PDGF-alpha Receptor Expression Following Hypoxic-Ischemic Injury in the Neonatal Rat Brain
• Mutational Spectrum of MSUD in the Philippines
• Intraperitoneal administration of phosphorothioate antisense oligodeoxynucleotide against splicing enhancer sequence induced exon skipping in dystrophin mRNA expressed in mdx skeletal muscle
• Molecular Analysis of TSC2/PKD1 Contiguous Gene Deletion Syndrome
• Molecular genetic analysis and mutation screening of the vhl gene in a Japanese family with von hippel-lindau disease
• A novel approach to identify Duchenne muscular dystrophy patients for aminoglycoside antibiotics therapy
• Familial Partial Epilepsy with Variable Foci in a Dutch Family : Clinical Characteristics and Confirmation of Linkage to Chromosome 22q
• 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
• EURAP : An International Registry of Antiepileptic Drugs and Pregnancy
• 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
• Severe Alport syndrome in a young woman caused by a t(X;1)(q22.3;p36.32) balanced translocation
• Ligand orientation governs conjugation capacity of UDP-glucuronosyltransferase 1A1
• eBraille: a web-based translation program for Japanese text to braille
• Screening of the LIX1 gene in Japanese and Malaysian patients with SMA and/or SMA-like disorder
• Comparison of the Bronchodilative Effects of Salbutamol Delivered via Three Mesh Nebulizers in Children with Bronchial Asthma
• Combination of SMN2 copy number and NAIP deletion predicts disease severity in spinal muscular atrophy
• バルプロ酸誘発高アンモニア血症に対するCPS1 4217C>A遺伝子多型の影響
• Deletion analyses of SMN1 and NAIP genes in Malaysian spinal muscular atrophy patients
• Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy
• 先天性全身性脂肪萎縮症の2乳児例
• Congenital epulis of the jaw : a series of five cases and review of literature
• A surviving case of papillorenal syndrome with the phenotype of Potter sequence
• Epigallocatechin gallate inhibits sphere formation of neuroblastoma BE(2)-C cells
• Contemporary retrotransposition of a novel non-coding gene induces exon-skipping in dystrophin mRNA
• Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center
• Insertion of the IL1RAPL1 gene into the duplication junction of the dystrophin gene
• Valproic acid increases SMN2 expression and modulates SF2/ASF and hnRNPA1 expression in SMA fibroblast cell lines
• A Homozygous Mutation in UGT1A1 Exon 5 May Be Responsible for Persistent Hyperbilirubinemia in a Japanese Girl with Gilbert's Syndrome
• Utility of Multiplex PCR in Detecting the Causative Pathogens for Pediatric Febrile Neutropenia
• Long-Term Stabilization of Respiratory Conditions in Patients with Spinal Muscular Atrophy Type 2 by Continuous Positive Airway Pressure : a Report of Two Cases
• Place of Death of Pediatric Cancer Patients in a Single Institute during 7 Years
• Molecular Analysis of TSC2/PKD1 Contiguous Gene Deletion Syndrome
• Challenges of supplementary treatment for neurodegenerative diseases
• High prevalence of Southeast Asian ovalocytosis in Malays with distal renal tubular acidosis
• Molecular characterization of an X(p21.2;q28) chromosomal inversion in a Duchenne muscular dystrophy patient with mental retardation reveals a novel long non-coding gene on Xq28

もっと見る 閉じる

スポンサーリンク