Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutations
スポンサーリンク
概要
- 論文の詳細を見る
- Springer-Verlag Tokyoの論文
- 2000-11-01
著者
-
Matsubara Yoichi
東北大学 医学系研究科遺伝病学分野
-
Matsubara Yoichi
Department Of Medical Genetics Tohoku University School Of Medicine
-
AOKI Yoko
Department of Medical Genetics, Tohoku University School of Medicine
-
KURE Shigeo
Department of Medical Genetics, Tohoku University School of Medicine
-
SUZUKI Yoichi
Department of Medical Genetics, Tohoku University School of Medicine
-
HIRATSUKA Masahiro
Department of Clinical Pharmaceutics, Tohoku Pharmaceutical University
-
YANG Xue
Department of Medical Genetics, Tohoku University School of Medicine
-
LI Xue
Department of Medical Genetics, Tohoku University School of Medicine
-
SAKAMOTO Osamu
Department of Medical Genetics, Tohoku University School of Medicine
-
GIBSON Kenneth
Department of Molecular and Medical Genetics, Oregon Health Sciences University
-
NARISAWA Kuniaki
Faculty of Science and Welfare, Tohoku Bunka Gakuen University
-
Yang Xue
Department Of Plastic Surgery Tohoku University School Of Medicine
-
Kure Shigeo
Tohoku Univ. School Of Medicine Sendai Jpn
-
Kure S
Department Of Medical Genetics Tohoku University School Of Medicine
-
Kure Shigeo
Department Of Medical Genetics Tohoku University Graduate School Of Medicine
-
Kure Shigeo
Department Of Pediatrics And Biochemical Genetics Tohoku University School Of Medicine
-
Suzuki Yoichi
Department Of Public Health Chiba University Graduate School Of Medicine
-
Suzuki Yoichi
Department Of Medical Genetics Tohoku University School Of Medicine
-
Gibson Kenneth
Department Of Molecular And Medical Genetics Oregon Health Sciences University
-
Narisawa Kuniaki
Department Of Medical Genetics Tohoku University School Of Medicine
-
Narisawa Kuniaki
Department Of Pediatrics And Biochemical Genetics Tohoku University School Of Medicine
-
Sakata Yoshiyuki
Department Of Medical Genetics Tohoku University School Of Medicine
-
Hiratsuka Masahiro
Department Of Clinical Pharmaceutics Tohoku Pharmaceutical University
-
Hiratsuka Masahiro
Faculty Of Pharmaceutical Sciences Tohoku University
-
Hiratsuka Masahiro
Department Of Surgery Center For Adult Diseases
-
Li Xue
Department Of Medical Genetics Tohoku University School Of Medicine
-
Suzuki Yoichi
Department Of Applied Chemistry Faculty Of Science And Technology Keio University
-
Suzuki Y
Department Of Medical Genetics Tohoku University School Of Medicine
-
Sakamoto Osamu
Department Of Gastroenterology Ohtaatami Hospital
-
SUZUKI Yasuyo
Department of Clinical Genetics, Medical Institute of Bioregulation, Kyushu University
-
Hiratsuka Masahiro
Laboratory Of Pharmacotherapy Of Life-style Related Disease Graduate School Of Pharmaceutical Scienc
-
Hiratsuka Masahiro
Department Of Medical Genetics Tohoku University School Of Medicine
-
Matsubara Y
Department Of Medical Genetics Tohoku University School Of Medicine
-
Hiratsuka Masahiro
Laboratory Of Pharmacotherapy Of Life-style Related Diseases Graduate School Of Pharmaceutical Scien
-
Matsubara Yoichi
Department Of Medical Genetics Tohoku University Of Graduate School Of Medicine
-
Sakamoto Osamu
Department Of Medical Genetics Tohoku University School Of Medicine
-
Yamaguchi Koichi
Division Of Allergy National Center For Children Health And Development
-
LI Xue
Department of Histology and Embryology, Harbin Medical University
-
AOKI Yoko
Department of Food and Nutrition, Japan Women's University
-
Hiratsuka Masahiro
Department of Applied Chemistry, Faculty of Engineering, Chiba University
-
Li Xue
Department of Cardiology, the Fourth Hospital of Harbin Medical University
関連論文
- 日本人におけるHNF4αの遺伝子多型の同定及びハプロタイプ構造の解析
- Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome
- A novel KCNQ4 one-base deletion in a large pedigree with hearing loss : implication for the genotype-phenotype correlation
- A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem
- Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia
- Genotyping of Single Nucleotide Polymorphisms (SNPs) Influencing Drug Response by Competitive Allele-specific Short Oligonucleotide Hybridization (CASSOH) with Immunochromatographic Strip
- Novel IRF6 mutations in Japanese patients with Van der Woude Syndrome : two missense mutations (R45Q and P396S) and a 17-kb deletion
- Lack of evidence for a significant association between nonsyndromic cleft lip with or without cleft palate and the retinoic acid receptor alpha gene in the Japanese population
- Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia
- Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutations
- A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia
- Mutation and polymorphic marker analyses of 65K- and 67K-glutamate decarboxylase genes in two families with pyridoxine-dependent epilepsy
- DINUCLEOTIDE REPEAT POLYMORPHISM IN 65k-GLUTAMATE DECARBOXYLASE GENE
- The effects of copper-histidine therapy on brain metabolism in a patient with Menkes disease : a proton magnetic resonance spectroscopic study
- Dynamic Cortical Activity during Spasms in Three Patients with West Syndrome : A Multichannel Near-infrared Spectroscopic Topography Study
- Detection of Gastric Cancer Micrometastases in Lymph Nodes by Amplification of Keratin 19 mRNA with Reverse Transcriptase-Polymerase Chain Reaction
- Association study of the C3 gene with adult and childhood asthma
- No Association of Polymorphisms in the 5' Region of the CD14 Gene and Food Allergy in a Japanese Population
- Effects of Probiotics on the Immune System and Allergic Diseases
- CIPRO 2.5 : Ciona intestinalis protein database, a unique integrated repository of large-scale omics data, bioinformatic analyses and curated annotation, with user rating and reviewing functionality
- Unique Histopathological Features of a Familial Dilated Cardiomyopathy with Conduction Defect Caused by a Lamin A/C Gene Mutation
- FRS-040 Unique Arrhythmogenesis of a Familial Dilated Cardiomyopathy with Conduction Defect Caused by a Lamin A/C Gene Mutation(Arrhythmia-Clinical : Advances in Diagnosis and Management (A) : FRS5)(Featured Research Session (English))
- Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency
- Sequence analysis, gene expression, and chromosomal assignment of mouse Borg4 gene and its human orthologue
- Anaplastic ganglioglioma with sarcomatous component : An immunohistochemical study and molecular analysis of p53 tumor suppressor gene
- Hypercalcemia due to all-trans retinoic acid therapy for acute promyelocytic leukemia : A case report of effective treatment with bisphosphonate
- Guidelines for Diagnosis and Management of Pediatric Food Allergy in Japan
- Association of the RIP2 Gene with Childhood Atopic Asthma
- Association between genetic variation in the gene for death-associated protein-3 (DAP3) and adult asthma
- Neonatal-Onset Brainstem Reticular Reflex Myoclonus Following a Prenatal Brain Insult : Generalized Myoclonic Jerk and a Brainstem Lesion
- The Risk for Second Primaries in Gastric Cancer Patients : Adjuvant Therapy and Habitual Smoking and Drinking
- An association study of asthma and related phenotypes with polymorphisms in negative regulator molecules of the TLR signaling pathway
- Serum Nutritional Status of Tocopherol and Retinol Normalized to Lipids of Persons Living in the Southern Rural Terai Region in Nepal
- Clinical characterization of familial dilated cardiomyopathy with conduction defect caused by a novel lamin A/C gene mutation
- Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency
- 日本人における Denaturing HPLC を用いたCYP2S1遺伝子の新規SNPスクリーニング
- A possible mechanism of neonatal intrahepatic cholestasis caused by citrin deficiency
- Novel missense mutation (R94S) in the TAZ (G4.5) gene in a Japanese patient with Barth syndrome
- Cloning, expression analysis, and chromosomal localization of a novel butyrophilin-like receptor
- Isolation and chromosomal mapping of a novel human gene showing homology to Na^+/PO4 cotransporter
- A novel human gene whose product shares significant homology with the bovine brain-specific protein p25 on chromosome 5p15.3
- Isolation, tissue expression, and chromosomal assignment of a novel human gene which encodes a protein with RING finger motif
- Cloning, expression analysis, and chromosomal localization of HIP1R, an isolog of huntingtin interacting protein (HIP1)
- Isolation, tissue expression, and chromosomal assignment of human RGS5, a novel G-protein signaling regulator gene
- B-56. Clinical Significance of Early Epilepsy
- Genotyping of the N-acetyltransferase2 Polymorphism in the Prediction of Adverse Drug Reactions to Isoniazid in Japanese Patients
- High Throughput Detection of Drug-Metabolizing Enzyme Polymorphisms by Allele-Specific Fluorogenic 5' Nuclease Chain Reaction Assay
- Detection Assay of Rare Variants of the Thiopurine Methyltransferase Gene by PCR-RFLP Using a Mismatch Primer in a Japanese Population
- Refractory autoimmune hemolytic anemia in a patient with chromosome 22q11.2 deletion syndrome
- Acute motor axonal neuropathy during intensive immunosuppressive therapy for macrophage activation syndrome
- Malignant Paraganglioma of the Stomach
- Three Novel Single Nucleotide Polymorphisms (SNPs) of the CYP2B6 Gene in Japanese Individuals
- Human CYP4B1 Gene in the Japanese Population Analyzed by Denaturing HPLC
- Filaggrin null mutations are associated with atopic dermatitis and elevated levels of IgE in the Japanese population: a family and case–control study
- Relationship between RANTES polymorphisms and respiratory syncytial virus bronchiolitis in a Japanese infant population
- Forensic Assessment of 16 Single Nucleotide Polymorphisms Analyzed by Hybridization Probe Assay
- Resolution of anti-neutrophil cytoplasmic antibody-associated vasculitis after resection of gastric cancer
- 114. Clinical Observations of the Ventriculo-atrial Shunt
- Molecular analysis of methylmalonyl-CoA mutase deficiency : identification of three missense mutations in mut^0 patients
- Brain and Heart Specific Alteration of Methamphetamine (MAP) Distribution in MAP-Sensitized Rat
- Nonketotic hyperglycinemia: Pathophysiological studies
- A critical role of Sonic Hedgehog signaling in maintaining the tumorigenicity of neuroblastoma cells
- Plasma Level of Mitochondrial Coupling Factor 6 Increases in Patients With Coronary Heart Disease
- Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography
- NONKETOTIC HYPERGLYCINEMIA : BIOCHEMICAL, MOLECULAR, AND NEUROLOGICAL ASPECTS
- A Slow Spread of Adenovirus Type 7 Infection after Its Re-Emergence in Yamagata, Japan, in 1995
- Enzyme-catalyzed Ring-opening Polymerization of β-Butyrolactone Using PHB Depolymerase
- CHEMICAL SHIFT OF OH PROTONS OF ALKYLPHENOLS IN CARBON TETRACHLORIDE ETHYL ACETATE MIXED SOLVENT IN PRESENCE OF CADMIUM NITRATE
- Molecular analysis of a presymptomatic case of carnitine palmitoyl transferase I (CPT I) deficiency detected by tandem mass spectrometry newborn screening in Japan
- Indications for hepatectomy for hepatocellular carcinoma : What stage of the disease is the best indication for surgery?
- Tuberculous Hypertrophic Pachymeningitis Involving the Posterior Fossa and High Cervical Region : Case Report
- Multiple Cerebral Arteriovenous Malformations : Case Report
- Efficacy and safety of orally administered pilocarpine hydrochloride for patients with juvenile-onset Sjogren's syndrome
- Japanese pediatric guidelines for the treatment and management of bronchial asthma 2008
- 我が国における学童・生徒における肥満と喘息症状との関連
- Endemicity of human metapneumovirus subgenogroups A2 and B2 in Yamagata, Japan, between 2004 and 2009
- Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination
- Sublingual Immunotherapy with House Dust-Extract for House Dust-Mite Allergic Rhinitis in Children
- Evola : Ortholog database of all human genes in H-InvDB with manual curation of phylogenetic trees
- Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies
- HRAS mutants identified in Costello syndrome patients can induce cellular senescence : possible implications for the pathogenesis of Costello syndrome
- A genome-wide association study identifies RNF213 as the first Moyamoya disease gene
- Two Novel Mutations in the Lactase Gene in a Japanese Infant with Congenital Lactase Deficiency
- Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion
- An Outbreak of Exanthematous Disease due to Coxsackievirus A9 in a Nursery in Yamagata, Japan, from February to March 2012
- Association of the MMP9 gene with childhood cedar pollen sensitization and pollinosis
- Replication of genetic association studies in asthma and related phenotypes
- Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies
- Linkage and association of childhood asthma with the chromosome 12 genes
- Panax Ginseng : A Newly Identified Cause of Gynecomastia
- Paradoxical increase in seizure frequency with valproate in nonketotic hyperglycinemia
- A familial case of LEOPARD syndrome associated with a high-functioning autism spectrum disorder
- Seasonal Patterns of Respiratory Syncytial Virus, Influenza A Virus, Human Metapneumovirus, and Parainfluenza Virus Type 3 Infections on the Basis of Virus Isolation Data between 2004 and 2011 in Yamagata, Japan
- An Outbreak of Parainfluenza Virus Type 4 Infections among Children with Acute Respiratory Infections during the 2011–2012 Winter Season in Yamagata, Japan
- Production of Hydroxlated Flavonoids with Cytochrome P450 BM3 Variant F87V and Their Antioxidative Activities
- Human Herpes Virus Type 6 Can Cause Skin Lesions at the BCG Inoculation Site Similar to Kawasaki Disease
- Utility of Thallium-201 Scintigraphy in Tolosa-Hunt Syndrome
- Valproic Acid Exacerbated Infantile Spasms and Induced Novel Complex Partial Seizures in an Infant with Non-ketotic Hyperglycinemia
- Screening for Five Prevalent Mutations of SLC25A13 Gene in Guangdong, China: A Molecular Epidemiologic Survey of Citrin Deficiency
- Successful treatment with rituximab of an infant with refractory autoimmune hemolytic anemia