Novel mutation of gene coding for glial fibrillary acidic protein in a Japanese patient with Alexander disease
スポンサーリンク
概要
著者
-
SAKAI Norio
Department of Molecular and Pharmacological Neuroscience, Graduate School of Biomedical Sciences, Hi
-
OZONO Keiichi
Department of Developmental Medicine (Pediatrics), Osaka University Graduate School of Medicine
-
Miyake Susumu
Kagawa Prefectural Central Hospital
-
Ozono Keiichi
Osaka University Graduate School Of Medicine
-
MUSHIAKE SOTARO
Department of Pediatrics, Osaka University Graduate School of Medicine
-
Sakai Norio
Department Of Developmental Medicine (pediatrics) Osaka University Graduate School Of Medicine
-
TANIIKE Masako
Department of Developmental Medicine (Pediatrics), Osaka University Graduate School of Medicine
-
INUI Koji
Department of Pediatrics, Osaka University Graduate School of Medicine
-
KAWAI Masanobu
Department of Developmental Medicine (Pediatrics), D-5 Osaka University Graduate School of Medicine
-
TSUKAMOTO Hiroko
Department of Developmental Medicine (Pediatrics), D-5 Osaka University Graduate School of Medicine
-
AKAGI Motohiro
Department of Developmental Medicine (Pediatrics), D-5 Osaka University Graduate School of Medicine
-
Miyake Susumu
Kagawa Prefectural Central Hospital Dept Of Pediatrics Osaka University Graduate School Of Medicine
-
Inui Koji
Department Of Pediatrics Osaka University Graduate School Of Medicine
-
Akagi Motohiro
Department Of Developmental Medicine (pediatrics) Osaka University Graduate School Of Medicine
-
Taniike Masako
Department Of Developmental Medicine (pediatrics) Osaka University Graduate School Of Medicine
-
Kawai Masanobu
Department Of Developmental Medicine (pediatrics) D-5 Osaka University Graduate School Of Medicine
-
Sako Masahiro
Department Of Pediatrics Osaka University Graduate School Of Medicine
-
Mushiake Sotaro
Department Of Pediatrics D-5 Developmental Medicine Osaka University Graduate School Of Medical Scie
-
Tsukamoto Hiroko
Department Of Developmental Medicine (pediatrics) Osaka University Graduate School Of Medicine
-
Tsukamoto Hiroko
Department Of Developmental Medical Sciences Institute Of International Health Graduate School Of Me
-
Inui Koji
Department Of Developmental Medicine (pediatrics) Osaka University Graduate School Of Medicine
-
Sakai Norio
Department Of Developmental Medicine (pediatrics) D-5 Osaka University Graduate School Of Medicine.
-
Sakai Norio
Department Of Biopharmaceutics And Drug Rational Research Center School Of Pharmacy Tokyo University
-
Ozono Keiichi
Department Of Developmental Medicine (pediatrics) D-5 Osaka University Graduate School Of Medicine
-
Taniike Masako
Department of Child Development, United Graduate School of Child Development, Osaka University
関連論文
- The C-Terminal Region of Serotonin Transporter Is Important for Its Trafficking and Glycosylation
- Pediatric myeloid/NK cell precursor lymphoma/leukemia expressing T/NK immunophenotype markers
- III C1 Probable molecular dysfunction by autoantibodies against NMDA receptor GluRe2 in epilepsies after acute encephalitis
- Allogeneic hematopoietic stem cell transplantation with reduced intensity conditioning for a child with recurrent anaplastic large cell lymphoma
- Analysis of the stable levels of messenger RNA derived from different polymorphic alleles in the vitamin D receptor gene
- Fragmentation of Protein Kinase N (PKN) in the Hydrocephalic Rat Brain
- Antiepileptic Effects of Single and Repeated Oral Administrations of S-312-d, a Novel Calcium Channel Antagonist, on Tonic Convulsions in Spontaneously Epileptic Rats
- Electrophysiological Characterization of Nicotine-Induced Excitaiton of Dopaminergic Neurons in the Rat Substantia Nigra
- Perospirone, a Novel Antipsychotic Agent, Hyperpolarizes Rat Dorsal Raphe Neurons via 5-HT_ Receptor
- Involvement of Ca^ Channels in Abnormal Excitability of Hippocampal CA3 Pyramidal Cells in Noda Epileptic Rats
- IV F10 Abnormal excitability of hippocampal CA3 pyramidal neurons involving abnormal Ca2^+ activity in Noda epileptic rats
- Endocrinological Analysis of 122 Japanese Childhood Cancer Survivors in a Single Hospital
- Tacrolimus-Related Encephalopathy following Allogeneic Stem Cell Transplantation in Children
- Congo Red, an Amyloid-Inhibiting Compound, Alleviates Various Types of Cellular Dysfunction Triggered by Mutant Protein Kinase Cγ That Causes Spinocerebellar Ataxia Type 14 (SCA14) by Inhibiting Oligomerization and Aggregation
- Pediatric post-transplant diffuse large B cell lymphoma after cardiac transplantation
- A case of congenital bone marrow failure with radio-ulnar synostosis
- Sleep disordered breathing in childhood-onset acid maltase deficiency
- Causes and Differential Diagnosis of Hypocalcemia : Recommendation Proposed by Expert Panel Supported by Ministry of Health, Labour and Welfare, Japan
- Hereditary hypophosphatemic rickets with hypercalciuria : a study for the phosphate transporter gene type IIc and osteoblastic function
- A Case of Persistent Hyperinsulinemic Hypoglycemia of Infancy Successfully Managed with Subcutaneous Octreotide Injection and Nocturnal Intravenous Glucose Supply
- Biological Activities of 2α-Substituted Analogues of 1α, 25-Dihydroxyvitamin D_3 in Transcriptional Regulation and Human Promyelocytic Leukemia (HL-60) Cell Proliferation and Differentiation(Medicinal Chemistry)
- Application of Signal-Averaged Electrocardiogram to Myocardial Damage in the Late Stage of Kawasaki Disease
- Molecular Bases of Diseases Characterized by Hypophosphatemia and Phosphaturia : New Understanding
- Beneficial Effect of Oral Bisphosphonate Treatment on Bone Loss Induced by Chronic Administration of Furosemide without Alteration of Its Administration and Urinary Calcium Loss
- Lack of Puberty Despite Elevated Estradiol in a 46,XY Phenotypic Female with Frasier Syndrome
- Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation
- A Spectrum of Clinical Presentations in Seven Japanese Patients with Vitamin D Deficiency
- Novel mutation of gene coding for glial fibrillary acidic protein in a Japanese patient with Alexander disease
- Epilepsy in Wolf-Hirschhorn Syndrome (4p-)
- Longitudinal Observation of a Patient with Leri-Weill Dyschondrosteosis and SHOX Haploinsufficiency
- Hormonal and Genetical Assessment of a Japanese Girl with Weaver Syndrome
- In Vitro Biological Activities of a Series of 2β-Substituted Analogues of 1α, 25-Dihydroxyvitamin D_3
- Singly Dehydroxylated A-Ring Analogues of 19-Nor-1α, 25-dihydroxyvitamin D_3 and 19-Nor-22-oxa-1α, 25-dihydroxyvitamin D_3 : Novel Vitamin D_3 Analogues with Potent Transcriptional Activity but Extremely Low Affinity for Vitamin D Receptor
- Involvement of Ca^ Channels in Abnormal Excitability of Hippocampal CA3 Pyramidal Cells in Noda Epileptic Rats
- Cow's milk allergy presenting Hirschsprung's disease-mimicking symptoms
- Treatment with recombinant IL-2 for recurrent respiratory infection in a case of cartilage-hair hypoplasia with autoimmune hemolytic anemia
- A Case of Pediatric Virilizing Adrenocortical Tumor Resulting in Hypothalamic-pituitary Activation and Central Precocious Puberty Following Surgical Removal
- Late-onset differentiation syndrome in a child with acute promyelocytic leukemia
- Treatment of mitochondrial encephalomyopathy with a combination of cytochrome C and vitamins B_1 and B_2
- Functional and Morphological Abnormalities of Mitochondria in Human Cells Containing Mitochondrial DNA with Pathogenic Point Mutations in tRNA Genes
- Alendronate and pharmacological doses of 1α OHD_3 therapy in a patient with McCune-Albright syndrome and accompanying hypophosphatemia
- A patient with Shiga toxin-associated hemolytic uremic syndrome who developed hyperkalemia in the recovery period
- Hypophosphatemic rickets accompanying McCune-Albright syndrome : evidence that a humoral factor causes hypophosphatemia
- Blunted effect of parathyroid hormone on adenosine 3',5'-cyclic monophosphate production is derived from ATP depletion in proximal convoluted tubules of hypophosphatemic mice
- The role of IGF-I in phosphate therapy for the short stature of patients with hypophosphatemic vitamin D-resistant rickets
- The Rat Intrinsic Factor Gene: Its 5'-Upstream Region and Chief Cell-Specific Transcription
- Molecular form and subcellular distribution of acid β-galactosidase in fibroblasts from patients with G_ gangliosidosis,Morquio B disease and galactosialidosis
- Effects of D-Fraction, a Polysaccharide from Grifola frondosa on Tumor Growt Involve Activation of NK Cells
- Computational Analysis of Molecular Recognition in DNA Base-Sequence and Groove by Methidium Chloride Using Molecular Mechanics Calculation
- Electrophysiological Characterization of Nicotine-Induced Excitaiton of Dopaminergic Neurons in the Rat Substantia Nigra
- Mutation analysis of Japanese patient with fucosidosis
- A novel type X collagen gene mutation (G595R) associated with Schmid-type metaphyseal chondrodysplasia
- Genetic association of a polymorphism of the cAMP-responsive element binding protein-binding protein with steroid-induced osteonecrosis after kidney transplantation
- Spatiotemporal Analysis of the Molecular Interaction between PICK1 and PKC
- Scheie syndrome (MPS-IS) presented as bilateral trigger thumb
- Skeletal development of achondroplasia : Analysis of genotyped patients
- Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome
- Remission of progressive multifocal leukoencephalopathy following highly active antiretroviral therapy in a patient with HIV infection
- Long-term hospitalization during pregnancy is a risk factor for vitamin D deficiency in neonates
- Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome
- A Patient with Sotos Syndrome Who Reached Final Height
- 136 Excessive Growth in a Japanese Girl with Weaver Syndrome
- Histological findings in the livers of patients with neonatal intrahepatic cholestasis caused by citrin deficiency
- Development of a New Synthetic Method for L-Tetrahydrofuranylglycine and Its Application for Substrate-based HIV-1 Protease Inhibitors
- Pathogenesis of leukodystrophy for Krabbe disease : Molecular mechanism and clinical treatment
- Theoretical Relation between Spatial Resolution and Efficiency of Detection in Scanning Hot Electron Microscope
- Shortening of Detection Time for Observation of Hot Electron Spatial Distribution by Scanning Hot Electron Microscopy
- Gene therapy in Duchenne muscular dystrophy
- Temporal slow waves and cerebrovascular diseases
- Effects of sleep on pain-related somatosensory evoked potentials in humans
- Wnt signaling in bone metabolism
- Hepatitis C virus infection and interferon therapy in patients with Down syndrome
- Diseases Associated with Abnormal Skeletal Maturity
- G-protein Stimulatory α Subunit is Involved in Osteogenic Activity in Osteoblastic Cell Line SaOS-2 Cells
- Phenotype and genotype analysis of severe skeletal dysplasia
- A novel activating mutation (C129S) in the calcium-sensing receptor gene in a Japanese family with autosomal dominant hypocalcemia
- A case of giant axonal neuropathy showing focal aggregation and hypophosphorylation of intermediate filaments
- CORRELATION OF SUBCELLULAR LOCALIZATION OF DISEASE-SPECIFIC INCLUSIONS AND SPHINGOLIPID ACTIVATOR PROTEIN-1(SAP-1)IN SULFATIDE SULFATASE-DEFICIENT FIBROBLASTS
- Localization of SAP-1 in fibroblasts of metachromatic leukodystrophy
- Transport and Recognition of Aminopeptidase-Resistant Cellobiose-Coupled Tyrosylglycylglycine by Intestinal Na^+/Glucose Cotransporter (SGLT1) : Recognition of Suger Conjugates by SGLT1 Is Much Less Restricted than Transport
- Is temporal slow wave on EEG a useful diagnostic tool in vascular depression?
- A Case of Primary Hyperparathyroidism in Childhood Found by a Chance Hematuria
- A Case of Chaotic Atrial Tachycardia and Noonan's Syndrome
- Hyperintensity of Posterior Pituitary on MR T1WI in a Boy with Central Diabetes Insipidus Caused by Missense Mutation of Neurophysin II Gene
- Pediatric post-transplant lymphoproliferative disorder after cardiac transplantation
- Congo Red, an Amyloid-Inhibiting Compound, Alleviates Various Types of Cellular Dysfunction Triggered by Mutant Protein Kinase Cγ That Causes Spinocerebellar Ataxia Type 14 (SCA14) by Inhibiting Oligomerization and Aggregation
- Early-onset facioscapulohumeral muscular dystrophy: two case reports
- Face representation in the human primary somatosensory cortex
- ALLELE FREQUENCIES OF INTRAGENIC, AND 5' AND 3' MARKERS OF THE DYSTROPHIN GENE IN JAPANESE FAMILIES AFFLICTED WITH DUCHENNE OR BECKER MUSCULAR DYSTROPHY
- A case of chronic infantile type of fucosidosis : clinical and magnetic resonance in image findings
- Risk factors for small for gestational age
- 病原性大腸菌O157による完全型HUSで認められた神経合併症のリスク因子
- Clinical aspects and adrenal functions in eleven Japanese children with X-linked adrenoleukodystrophy
- Anthracyclines for acute lymphoblastic leukemia in a child with congenital long QT syndrome
- Hematopoietic stem cell transplantation with reduced intensity conditioning from a family haploidentical donor in an infant with familial hemophagocytic lymphohistocytosis
- SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome
- Mucolipidosis II and III alpha/beta : mutation analysis of 40 Japanese patients showed genotype-phenotype correlation
- Decrease in serum FGF23 levels after intravenous infusion of pamidronate in patients with osteogenesis imperfecta
- Clinicogenetical features of a Japanese patient with giant axonal neuropathy
- Major role of apolipoprotein B in cycloheximide-induced acute hepatic steatosis in mice