Combined Protein C and Protein S Deficiency in a Family with Repetitive Thromboembolism and Segregated Gene Mutations
スポンサーリンク
概要
- 論文の詳細を見る
A young man with repetitive deep venous thrombosis of the legs and the inferior vena cava, and his family were eventually diagnosed by means of molecular genetic analysis as having both hereditary protein C and protein S deficiency. There have been a few reports of families with combined protein C and protein S deficiency and only one report of such a family characterized at the DNA level. This was the first reported family in Japan with combined deficiency of protein C and protein S accompanied by segregation of gene lesions.(Internal Medicine 42: 268-272, 2003)
- 社団法人 日本内科学会の論文
- 2003-03-01
著者
-
KUBO KEISHI
First Department of Internal Medicine, Shinshu University School of Medicine
-
HAMASAKI Naotaka
Department of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital
-
Yamazaki Satoshi
Department Of Internal Medicine And Clinical Immunology Yokohama City University Graduate School Of
-
Kubo Keishi
First Department Of Internal Medicine Dhinshu University School Of Medicine
-
NOMURA Hiroshi
Department of Physics, Tohoku University
-
YAMADA Hiroyoshi
Department of Information Engineering, Niigata University
-
Hamasaki Naotaka
Department Of Biochemistry Fukuoka University School Of Medicine
-
Yamada Hiroyoshi
Department Of Internal Medicine Omachi City General Hospital
-
Yoshimura Kazuhiko
Departments of Internal Medicine and Adaptation Physiology, Shishu University School of Medicine
-
HAYASHIDA Mie
Department of Internal Medicine, Omachi City General Hospital
-
KITAHARA Osamu
Department of Internal Medicine, Omachi City General Hospital
-
MOMOSE Kunio
Department of Internal Medicine, Omachi City General Hospital
-
KURIHARA Masako
Department of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital
-
Nomura Hiroshi
Department Of Mechanical Engineering Gunma University
-
Hayashida Mie
Department Of Internal Medicine Omachi City General Hospital
-
Yoshimura Kazuhiko
Department Of Internal Medicine Omachi City General Hospital
-
Momose Kunio
Department Of Internal Medicine Omachi City General Hospital
-
Kitahara Osamu
Department Of Internal Medicine Omachi City General Hospital
-
Yamada Hiroyoshi
Department Of Information Engineering Niigata University
-
Nomura Hiroshi
Department Of Internal Medicine Omachi City General Hospital
-
Nomura Hiroshi
Department Of Applied Chemistry Faculty Of Engineering Kanagawa University
-
Yamazaki Satoshi
Department Of Internal Medicine Omachi City General Hospital
-
Yamazaki Satoshi
Department Of Dermatology Mie University School Of Medicine
-
Kurihara Masako
Department Of Clinical Chemistry And Laboratory Medicine Kyushu University Hospital
-
YAMAZAKI Satoshi
Department of Clinical Laboratory, St. Marianna University School of Medicine
関連論文
- Hemorrhagic rectal ulcer caused by a deformity of the coccyx complicated by normal delivery
- Systemic Vasculitis Associated with α1-antitrypsin Deficiency
- Systemic sclerosis and pseudomesotheliomatous adenocarcinoma of the lung
- Proteolytic Cleavage Sites of and 3 Protein in Alkali-Treated Membranes: Fidelity of Hydropathy Prediction for Band 3 Protein^1
- A Structural Study of the Carboxyl Terminal Region of the Human Erytheocyte Band 3 Protein
- Research for Air Cooling System Using Vacuum-Cooled Water Refrigerant
- Biological Immunoassay Utilizing Magnetic Marker and High T_c Superconducting Quantum Interference Device Magnetometer
- g-Factor of Λ in the Hypernuclei Studied from B(M1) Measurement(Proceedings of the YITP Workshop on Nuclear Matter under Extreme Conditions)
- Utility of Single-slice High-resolution CT in Upper Lung Field Combined with Low-dose Spiral CT for Lung-cancer Screening in the Detection of Emphysema
- Acute Eosinophilic Pneumonia Associated with Smoke from Fireworks
- Synthesis of Second Transmembrane Segment Peptides in Band 3 Protein from Human Erythrocyte Membrane and Their Interaction with Model Membranes
- The C-terminal Tail of Mitochondrial Transcription Factor A Markedly Strengthens its General Binding to DNA
- PDIP38 Associates with Proteins Constituting the Mitochondrial DNA Nucleoid
- HIGH INCIDENCE OF A POLYMORPHIC VARIANT OF ERYTHROCYTE MEMBRANE PROTEIN, BAND 3-MEMPHIS, ON A WESTERN JAPANESE ISLAND
- Two Cases of Severe Bronchiectasis Successfully Treated with a Prolonged Course of Trimethoprim/Sulfamethoxazole
- Cardiovascular responses to high-frequency oscillatory ventilation during acute lung injury in sheep
- The Periodicity of the Scattering Matrix and Its Application
- Serum HO-1 is useful to make differential diagnosis of secondary hemophagocytic syndrome from other similar hematological conditions
- Treatment with Crystalline Ultra-Pure Urea Reduces the Aggregation of Integral Membrane Proteins without Inhibiting N-Terminal Sequencing
- Mutation Detection in the Drug-Resistant Hepatitis B Virus Polymerase Gene Using Nanostructured Reverse Micelles
- Expression of heme oxygenase-1 in human leukemic cells and its regulation by transcriptional repressor Bach1
- Clinical Significance of Fragmented Red Cells after Allogeneic Bone Marrow Transplantation
- Acute Lymphoblastic Leukemia with t(1;9;22)(q32;q34;q11)
- Posttransplantation Epstein-Barr Viral Meningitis in a Patient With Chronic Myelogenous Leukemia
- Immunoblastic lymphadenopathy-like T-cell lymphoma complicated by multiple gastrointestinal involvement
- Churg-Strauss syndrome (allergic granulomatous angitis) presenting with ileus caused by ischemic ileal ulcer
- Elevated Serum CA19-9 Level and Regional Lymphadenopathy in a Young Man with Allergic Bronchopulmonary Aspergillosis
- IL-5 Predominant in Bronchoalveolar Lavage Fluid and Peripheral Blood in a Patient with Acute Eosinophilic Pneumonia
- Effect of walking exercise on bone metabolism in postmenopausal women with osteopenia/osteoporosis
- Characterization of IL-4 and IL-13 signals dependent on the human IL-13 receptor α chain 1: redundancy of requirement of tyrosine residue for STAT3 activation
- Shape of the joint gap for 90° and 120° knee flexion after total knee arthroplasty
- Trends Over the Last 20 Years in the Clinical Background of Young Japanese Patients With Coronary Artery Disease
- Percutaneous Cardiopulmonary Support Aids Resuscitation From Sustained Ventricular Tachycardia
- A case of systemic lupus erythematosus complicated with pneumatosis cystoides intestinalis
- Selective IgM Deficiency Accompanied with IgG4 Deficiency, Dermal Complications and a Bronchial Polyp
- Position-independent human β-globin gene expression mediated by a recombinant adeno-associated virus vector carrying the chicken β-globin insulator
- Double cancer (Iung and colon cancer) that showed complete remission with irinotecan and cisplatin combined chemotherapy
- Risk Factors for Hospital-acquired Bacteremia
- PJ-345 Predictive Value of β-methyliodophenylpentadecanoic Acid Scintigraphy on Long-term (Over 5 years) Clinical Outcome in Dilated Cardiomyopathy Patients Treated with β-blockade(Nuclear Cardiology 10 (I) : PJ58)(Poster Session (Japanese))
- Preventive Effect of Phosphoenolpyruvate on Hypoxemia Induced by Oleic Acid in Guinea Pigs
- Secondary Structures of Synthetic Peptides Corresponding to the First Membrane-Contact Portion of Normal Band 3 and Its Deletion Mutant (Southeast Asian Ovalocytosis)
- Electrical and Photoluminescence Properties of Iodine-Doped ZnSe Films Grown by Low-Pressure MOVPE : Semiconductors and Semiconductor Devices
- SB-1-1 Advances in Extra Wide-Band Multi-modal Air/Space-borne Radar Polarimetry, POL-IN-SAR Imaging and its Applications
- Effect of β-Blockade on Pulmonary Iodine-123 Metaiodobenzylguanidine Uptake in Dilated Cardiomyopathy : Association with a Future Cardiac Event and Reverse Remodeling
- Clinical Utility of Combined Assessment of Lung and Heart Iodine-123 Metaiodobenzylguanidine Uptake in Patients with Chronic Heart Failure
- Clinical Characteristics and Outcome in Patients with Cardiac Sarcoidosis Mimicking Hypertrophic Cardiomyopathy : Does It Really Mimic Hypertrophic Cardiomyopathy?
- Long-Term Echocardiographic Follow-Up in Patients with Cardiac Sarcoidosis : Impact of Microangiopathy on Ventricular Remodeling and Outcome
- Prognostic Importance of Interventricular Conduction Delay in Dilated Cardiomyopathy Patients Treated with β-Blocker and Angiotensin Converting Enzyme Inhibitor
- Clinical Features and Prognosis of Cardiac Sarcoidosis Presenting as Unexplained Heart Failure and Cardiomyopathies
- Interaction Effects on Combustion of Alcohol Droplet Pairs
- Vagal Stimulation Prior to Atrial Rapid Pacing Protects the Atrium From Electrical Remodeling in Anesthetized Dogs
- Forced retraction of spinal root injury enhances activation of p38 MAPK cascade in infiltrating macrophages
- EFFECTS OF INCREASED LEFT ATRIAL PRESSURE AND E.coli ENDOTOXIN INFUSION ON LUNG LYMPH BALANCE AND EXTRAVASCULAR LUNG THERMAL VOLUME IN ANESTHETIZED SHEEP : Pulmonary Circulation : I : 48 Annual Scientific Meeting, Japanese Circulation Society
- CARDIOVASCULAR EFFECTS OF PROSTACYCLIN (PG I_2) AND PROSTAGLANDIN E_1 (PG E_1) IN AWAKE STANDING SHEEP : Cardiovascular drugs (II) : FREE COMMUNICATIONS (Abstract) : 45 Annual Scientific Meeting, Japanese Circulation Society
- Biventricular Hypertrophic Cardiomyopathy With Right Ventricular Outflow Tract Obstruction Associated With Noonan Syndrome in an Adult
- Massspectrometric Analyses of Transmembrane Proteins in Human Erythrocyte Membrane
- Investigation on Seasonal Water Area Change in Lake Sakata Based on POLSAR Image Analysis(Sensing,2006 International Symposium on Antennas and Propagation)
- Polarimetric Scattering Analysis for a Finite Dihedral Corner Reflector(Sensing)
- The Functional Role of Arginine 901 at the C-Terminus of the Human Anion Transporter Band 3 Protein
- Successful endoscopic dilatation to alleviate airway suffocation in a case with esophageal cancer after stent implantation
- Thymic Squamous Cell Carcinoma Producing Parathyroid Hormone-related Protein and CYFRA 21-1
- Lung Tissue Distribution After Intravenous Administration of Grepafloxacin : Comparative Study With Levofloxacin
- Small-intestinal sarcomatoid carcinoma with superior vena cava syndrome
- PJ-041 Association between Abnormal Myocardial Fatty Acid Metabolism and Interventricular Conduction Delay in Patients with Dilated Cardiomyopathy(Nuclear Cardiology 3 (I) : PJ7)(Poster Session (Japanese))
- Combined Protein C and Protein S Deficiency in a Family with Repetitive Thromboembolism and Segregated Gene Mutations
- Semi-quantitative analysis of telomerase in pancreatic ductal adenocarcinoma
- OJ-052 Effect of Mycophenolate Mofetil on Experimental Autoimmune Myocarditis in Rat Through Suppression of Osteopontin Expression(Myocarditis, Basic/Clinical (M) : OJ7)(Oral Presentation (Japanese))
- Systemic Vasculitis Associated with α1-antitrypsin Deficiency
- Combined Protein C and Protein S Deficiency in a Family with Repetitive Thromboembolism and Segregated Gene Mutations
- CONTINUOUS, LOW DOSE OF HYDRALAZINE, REDUCES ACUTE HYPOXIC PULMONARY HYPERTENSION WITHOUT A CORRESPONDING FALL IN SYSTEMIC ARTERIAL PRESSURE
- (2-24) NUMERICAL SIMULATION OF COMPOSITE SPARK IGNITION PROCESS IN A METHANE-AIR MIXTURE((SI-7)S. I. Engine Combustion 7-Modeling)
- Familial Bilateral Pheochromocytoma with Medullary Carcinoma of the Thyroid : The Second Kindred of Familial Pheochromocytoma in Japan
- TED-AJ03-642 FLAME PROPAGATION IN UNIFORM FUEL SPRAYS AT HIGH PRESSURES
- A Basic Behavior of CNG DI Combustion in a Spark-Ignited Rapid Compression Machine
- (3-03) Feasibility of CNG DI Stratified Combustion Using a Spark-Ignited Rapid Compression Machine((AF-1)Alternative Fuels 1-Gas Engines)
- Cutaneous Myiasis Due to Dermatobia hominis in Japan
- TED-AJ03-643 EFFECTS OF FINE FUEL DROPLETS ON FLAME PROPAGATION AT CONSTANT PRESSURE
- Phosphoenolpyruvic Acid, an Intermediate of Glycolysis, Attenuates Cellular Injury Induced by Hydrogen Peroxide and 2-Deoxy-D-glucose in the Porcine Proximal Kidney Tubular Cell Line, LLC-PK1
- Operation of a Two-Stroke S. I. Engine with Scavenging-Port Injection of CNG(CNG and Alternative Fuels, CNG Engines)
- CNG operation of a two-stroke, two-cylinder marine S. I. engine and its characteristics of self-ignition combustion
- The effect of coconut oil and diesel fuel blends on diesel engine performance and exhaust emissions
- Mechanism of the Change in Shape of Human Erythrocytes Induced by Lidocaine
- Stokes and Anti-Stokes D-A Pair Luminescences in PbI_2
- Effects of Inorganic and Organic Anions on the Transport of Phosphoenol-Pyruvate Across the Erythrocyte Membrane(MEMBRANE PROTEINS AND TRANSPORT-II)
- A Serial Unequal Error Protection Code System Using Multilevel Trellis Coded Modulation with Ring-type Signal Constellations for AWGN Channels
- Phosphoenolpyruvic Acid, an Intermediary Metabolite of Glycolysis, as a Potential Cytoprotectant and Anti-oxidant in HeLa Cells
- A Critical Increase in Right-to-Left Shunt After Acute Myocardial Infarction in a 68-year-old Male With Tetralogy of Fallot
- g-Factor of Λ in the Hypernuclei Studied from B(M1) Measurement(Proceedings of the YITP Workshop on Nuclear Matter under Extreme Conditions)
- Characteristics of Asthma Resistant to Moderate Dose Inhaled Corticosteroid Treatment on Bronchial Hyperresponsiveness
- Hypersensitivity Pneumonitis Induced by Spores of Penicillium citrinum in a Worker Cultivating Enoki Mushroom
- Congenital Solitary Kidney With Renovascular Hypertension Diagnosed by Means of Captopril-enhanced Renography and Magnetic Resonance Angiography
- Angiosarcoma with Sacral Origin Metastasizing to the Lung
- A Case of Acute Rheumatic Fever Accompanied by Transient Aortic Regurgitation.
- Laryngo-Tracheo-Bronchial Amyloidosis Presenting Severe Airway Stenosis
- Small-Cell Lung Carcinoma Produces Salivary-Type Amylase: A Case Report with Review
- Regulation of Body Weight by Leptin, with Special Reference to Hypoxia-induced Regulation
- Treatment with Crystalline Ultra-Pure Urea Reduces the Aggregation of Integral Membrane Proteins without Inhibiting N-Terminal Sequencing.
- Proteolytic Cleavage Sites of Band 3 Protein in Alkali-Treated Membranes: Fidelity of Hydropathy Prediction for Band 3 Protein.
- Secondary Structures of Synthetic Peptides Corresponding to the First Membrane-Contact Portion of Normal Band 3 and Its Deletion Mutant (Southeast Asian Ovalocytosis).
- Massspectrometric Analyses of Transmembrane Proteins in Human Erythrocyte Membrane