Genetic Analysis of Shwachman-Diamond Syndrome : Phenotypic Heterogeneity in Patients Carrying Identical SBDS Mutations
スポンサーリンク
概要
- 論文の詳細を見る
- 2005-07-01
著者
-
ITO Etsuro
Department of Pediatrics, Hirosaki University School of Medicine
-
MITSUI Tetsuo
Department of Pediatric Hematology/Oncology
-
TSUCHIYA SHIGERU
Department of Pediatrics, Tohoku University Graduate School of Medicine
-
Ito Etsuro
Department Of Pediatrics Hirosaki University School Of Medicine
-
TONO Chikako
Department of Pediatrics, Hirosaki University School of Medicine
-
HAMA Asahito
Department of Pediatrics, Nagoya University Graduate School of Medicine
-
Hama Asahito
Department Of Pediatrics Nagoya University Graduate School Of Medicine
-
Hama Asahito
山形大学 医学部小児科学
-
Hama Asahito
Department Of Pediatrics Nagoya University School Of Medicine
-
ABUKAWA DAIKI
Department of Pediatrics, Tohoku University School of Medicine
-
IGARASHI Yutaka
Igarashi Pediatric Clinic
-
KAWAKAMI TAKAKO
Department of Pediatrics, Yamagata University School of Medicine
-
KANAI MASAYO
Department of Pediatrics, Yamagata University School of Medicine
-
SHIRAHATA EMI
Department of Pediatrics, Yamagata University School of Medicine
-
SENDO DAI
Department of Pediatrics, Yamagata University School of Medicine
-
KANNO MIYAKO
Department of Pediatrics, Yamagata University School of Medicine
-
NORO MIZUKA
Department of Pediatrics, Yamagata University School of Medicine
-
ENDOH MIKIYA
Department of Pediatrics, Iwate Medical University
-
HAYASAKA KIYOSHI
Department of Pediatrics, Yamagata University School of Medicine
-
Hayasaka K
Department Of Pediatrics Yamagata University School Of Medicine
-
Hayasaka Kiyoshi
Departments Of Pediatrics Yamagata University School Of Medicine
-
Hayasaka Kiyoshi
Department Of Pediatrics Yamagata University Faculty Of Medicine
-
Kawakami Takako
Department Of Pediatrics Yamagata University School Of Medicine
-
Sendo Dai
Department Of Pediatrics Yamagata University School Of Medicine
-
Noro Mizuka
Department Of Pediatrics Yamagata University School Of Medicine
-
Endoh Mikiya
Department Of Pediatrics Iwate Medical University
-
Kanno Miyako
Department Of Pediatrics Yamagata University School Of Medicine
-
Kanai M
Department Of Pediatrics Yamagata University School Of Medicine
-
Kanai Masayo
Department Of Pediatrics Yamagata University School Of Medicine
-
Tono Chikako
Department Of Pediatrics Hirosaki University School Of Medicine
-
Shirahata Emi
Department Of Pediatrics Yamagata University School Of Medicine
-
Shirahata Emi
Department Of Pediatrics Yamagata City Hospital Saiseikan
-
Abukawa Daiki
Department Of General Pediatrics Miyagi Children's Hospital
-
Tsuchiya Shigeru
Department Of Pediatrics Tohoku University Graduate School Of Medicine
-
Igarashi Yutaka
Igarashi Children's Clinic
-
Mitsui Tetsuo
Department Of Pediatrics Yamagata University School Of Medicine
-
Tanaka Soichiro
Department Of Pediatrics Tohoku University School Of Medicine
-
Ito Etsuro
Department Of Pediatrics Hirosaki University Graduate School Of Medicine
-
Tsuchiya Shigeru
Dep. Of Obstetrics And Gynecology Tohoku Univ. Hospital
-
Tsuchiya Shigeru
Department Of Clinical Physiology Institute For Cardiovascular Diseases Tokyo Medical And Dental Uni
-
Abukawa Daiki
Department Of General Pediatrics And Pathology Miyagi Children's Hospital
-
ABUKAWA Daiki
Department of General Pediatrics, Miyagi Children's Hospital
関連論文
- Dense deposit disease presenting as endocapillary proliferative nephritis
- The analysis of the functions of human B and T cells in humanized NOD/shi-scid/γc^ (NOG) mice (hu-HSC NOG mice)
- Massive Pericardial and Pleural Effusion With Anasarca Following Allogeneic Bone Marrow Transplantation
- Chloride-Dependent Intracellular pH Regulation via Extracellular Calcium-Sensing Receptor in the Medullary Thick Ascending Limb of the Mouse Kidney
- Phylogenetic, ontogenetic, and pathological aspects of the urine-concentrating mechanism
- Retinoic acid-inducible gene-I( RIG-I) and diseases
- Renal Biopsy Findings in Children Receiving Long-Term Treatment with Cyclosporine A Given as a Single Daily Dose
- Mizoribine Pulse Therapy for a Pediatric Patient with Steroid-Resistant Nephrotic Syndrome
- Effective Therapy of a Child Case of Refractory Nephrotic Syndrome with Tacrolimus
- Combined therapy of enalapril and losartan attenuates histologic progression in immunoglobulin A nephropathy
- Therapy-related membranous nephropathy in juvenile idiopathic arthritis with Turner syndrome
- Mizoribine oral pulse therapy for a patient with severe lupus nephritis
- End-Stage Kidney at the Onset of Nephrotic Syndrome in a 4-Year-Old Girl
- Acute renal failure due to hypertension : Malignant hypertension in an adolescent
- Disseminated candidiasis following prednisolone therapy in systemic lupus erythematosus
- Tubulointerstitial Nephritis and Uveitis Syndrome in Two Siblings
- Three novel mutations of the fibrillin-1 gene and ten single nucleotide polymorphisms of the fibrillin-3 gene in Marfan syndrome patients
- Cloning and Characterization of the Novel Chimeric Gene p53/FXR2 in the Acute Megakaryoblastic Leukemia Cell Line CMK11-5
- Expression of Transcription Factors during Megakaryocytic Differentiation of CD34^+ Cells from Human Cord Blood Induced by Thrombopoietin
- Progression from myelodysplastic syndrome with monosomy 7 to acute monoblastic leukemia with MLL gene rearrangement
- Successful Outcome of Mismatched Hematopoietic Stem Cell Transplantation from a Related Donor in an Infant with Acute Lymphoblastic Leukemia and 9 ; 11 Translocation : Case Report and Review of the Literature
- Hemolytic crisis with fulminant hepatic failure in Wilson disease without consanguinity
- Low serum lipids suggest severe bone marrow failure in children with aplastic anemia
- Sporadic case of hemoglobin Bushwick detected by chance in aplastic crisis
- Fatal Epstein-Barr Virus-Associated Hemophagocytic Lymphohistiocytosis With Clonal Karyotype Abnormality
- Risk of Etoposide-Related Acute Myeloid Leukemia in the Treatment of Epstein-Barr Virus-Associated Hemophagocytic Lymphohistiocytosis
- Hepatocyte growth factor in transient myeloproliferative disorder of Down syndrome
- The Promoter of Mouse Transcription Repressor bach1 Is Regulated by Sp1 and Trans-Activated by Bach^1
- Distinct Clones Are Associated with the Development of Transient Myeloproliferative Disorder and Acute Megakaryocytic Leukemia in a Patient with Down Syndrome
- Conserved Structure, Regulatory Elements, and Transcriptional Regulation from the GATA-1 Gene Testis Promoter^1
- Mosaic Down syndrome-associated acute myeloid leukemia does not require high-dose cytarabine treatment for induction and consolidation therapy
- Juvenile myelomonocytic leukemia presenting multiple painful erythematous lesions diagnosed as Sweet's syndrome
- Reduced Exposure to Mercury in Patients Receiving Enteral Nutrition
- Clinical and Genetic Analyses of Presumed Shwachman-Diamond Syndrome in Japan
- The Nutrient Formula Containing Eicosapentaenoic Acid and Docosahexaenoic Acid Benefits the Fatty Acid Status of Patients Receiving Long-Term Enteral Nutrition
- β-Phenylethylamine Inhibits K^+ Currents in Neocortical Neurons of the Rat : A Possible Mechanism of β-phenylethylamine-induced Seizures
- Olfactory Stimulation Using Black Pepper Oil Facilitates Oral Feeding in Pediatric Patients Receiving Long-Term Enteral Nutrition
- Peripheral Blood Stem Cell Transplantation for Hepatoblastoma with Microscopical Residue : A Therapeutic Approach for Incompletely Resected Tumor
- Prenatal Diagnosis of Steroid 21-Hydroxylase Deficiency by the Modified Polymerase Chain Reaction to Detect Splice Site Mutation in the CYP21 Gene
- Fludarabine- and Cyclophosphamide-Based Nonmyelobalative Conditioning Regimen for Transplantation of Chronic Granulomatous Disease : Possible Correlation with Prolonged Pure Red Cell Aplasia
- Natural history of transfusion-independent non-severe aplastic anemia in children
- A novel JAK3 mutation in a Japanese patient with severe combined immunodeficiency
- Pharmacokinetics and Metabolic Effects of High-Dose Growth Hormone Administration in Healthy Adult Men
- Successful treatment with rituximab of refractory idiopathic thrombocytopenic purpura in a patient with Kabuki syndrome
- Genetic Analysis of Shwachman-Diamond Syndrome : Phenotypic Heterogeneity in Patients Carrying Identical SBDS Mutations
- Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency
- Semiempirical Calculations of Force Constants for Torsional and Stretching Vibrations in Excited States of Retinal and Its Related Compounds
- Successful Nonmyeloablative Bone Marrow Transplantation for Leukocyte Adhesion Deficiency Type I from an Unrelated Donor
- Clinical Characteristics, Etiologies and Pathophysiology of Patients with Severe Short Stature with Severe GH Deficiency : Questionnaire Study on the Data Registered with the Foundation for Growth Science, Japan
- Studies of Very Severe Short Stature with Severe GH Deficiency : From the Data Registered with the Foundation for Growth Science
- Refractory chronic immune thrombocytopenic purpura in a child with acute lymphoblastic leukemia
- Hypercalcemia due to all-trans retinoic acid therapy for acute promyelocytic leukemia : A case report of effective treatment with bisphosphonate
- Improved Survival of Children with Advanced Neuroblastoma Treated by Intensified Therapy Including Myeloablative Chemotherapy with Stem Cell Transplantation : A Retrospective Analysis from the Tohoku Neuroblastoma Study Group
- Deficient Activity of von Willebrand Factor-Cleaving Protease in Patients With Upshaw-Schulman Syndrome
- PCR-RFLP Analysis of Cytomegalovirus Infections Associated with Bone Marrow Transplantation in Japanese Children
- Prolonged secretion of IL-15 in patients with severe forms of acute graft-versus-host disease after allogeneic bone marrow transplantation in children
- Detection of the PGP9.5 and Tyrosine Hydroxylase mRNAs for Minimal Residual Neuroblastoma Cells in Bone Marrow and Peripheral Blood
- Decrease in Thy-1 Expression on Peripheral CD34 Positive Cells Induced by G-CSF Mobilization
- Expression of GATA transcription factors in myelogenous and lymphoblastic leukemia cells
- IL-2 Receptor γChain Expression on CD34 Positive Hematopoietic Progenitor Cells from Bone Marrow and Cord Blood
- Hypospadias in a Male Patient with 21-hydroxylase Deficiency
- Recurrent erythroblastopenia associated with Varicella zoster virus infection in an infant
- Neonatal-Onset Brainstem Reticular Reflex Myoclonus Following a Prenatal Brain Insult : Generalized Myoclonic Jerk and a Brainstem Lesion
- Height Responses in Complete ldiopathic Growth Hormone Deficient Children Less Than Three Years of Age during Growth Hormone Therapy
- Bach1 Deficiency Ameliorates Hepatic Injury in a Mouse Model
- Characterization of a Novel Nonsense Mutation in the Interleukin-7 Receptor α Gene in a Korean Patient with Severe Combined Immunodeficiency
- A Use of Adaline as an Automatic Method for Interpretation of the Electrocardiogram and the Vectorcardiogram
- Theory of Retinal and Its Related Compounds by the Extended INDO-CI Method Taking Account of the Change in Bond Lengths in Consistence with Electronic States
- Semiempirical Calculation of Force Constants of Stretching Vibrations in Excited States of Retinal and Its Related Compounds
- A possible mechanism of neonatal intrahepatic cholestasis caused by citrin deficiency
- An undescribed subset of neonatal interahepatic cholestasis associated with multiple hyperaminoacidemia
- A review of 331 rhabdomyosarcoma cases in patients treated between 1991 and 2002 in Japan
- Mild immunoglobulin A nephropathy in a patient with a marked increase in serum immunoglobulin A
- Successful Unrelated Donor Bone Marrow Transplantation for Shwachman-Diamond Syndrome with Leukemia
- CD48 expression on leukocytes in infectious diseases: Flow cytometric analysis of surface antigen
- The Uterus Sustains Stable Biological Clock during Pregnancy
- Benefits of Once-Daily Administration of Cyclosporine A for Children with Steroid-Dependent, Relapsing Nephrotic Syndrome
- Evaluation of Hematological Reconstitution Potential of Autologous Peripheral Blood Progenitor Cells Cryopreserved by a Simple Controlled-Rate Freezing Method
- Histological findings in the livers of patients with neonatal intrahepatic cholestasis caused by citrin deficiency
- Abdominal Migraine Associated with Ecchymosis of the Legs and Buttocks : Does the Symptom Imply an Unknown Mechanism of Migraine?
- The Cerebrospinal Fluid Level of 5-Methylterahydrofolate in a Japanese Boy with Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum
- Isolation and Characterization of Two Monoclonal Antibodies that Recognize Different Epitopes of the Human c-kit Receptor
- Vanishing bile duct syndrome with a history of erythema multiforme
- A Case of Ventricular Return Extrasystoles with Two Consecutive Re-entry Sweeps to the Atrium
- Hepatic and Serum Bile Acid Compositions in Patients with Biliary Atresia : A Microanalysis Using Gas Chromatography-Mass Spectrometry with Negative Ion Chemical Ionization Detection
- Molecular analysis of a presymptomatic case of carnitine palmitoyl transferase I (CPT I) deficiency detected by tandem mass spectrometry newborn screening in Japan
- Selective KIT inhibitor KI-328 and HSP90 inhibitor show different potency against the type of KIT mutations recurrently identified in acute myeloid leukemia
- Relationships between clinical and histological profiles of non-familial idiopathic neonatal hepatitis
- Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia
- Quality assessment of umbilical cord blood units at the time of transplantation
- CD20-negative Epstein-Barr virus-associated post-transplant lymphoproliferative disease refractory to rituximab in a patient with severe aplastic anemia
- Vincristine-resistant Kasabach-Merritt phenomenon successfully treated with low-dose radiotherapy
- Excellent outcomes of children with CML treated with imatinib mesylate compared to that in pre-imatinib era
- cAMP response element-binding protein (CREB) is required for epidermal growth factor (EGF) -induced cell proliferation and serum response element activation in neural stem cells isolated from the forebrain subventricular zone of adult mice
- A genome-wide association study identifies RNF213 as the first Moyamoya disease gene
- Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies
- Excellent outcome of allogeneic bone marrow transplantation for Fanconi anemia using fludarabine-based reduced-intensity conditioning regimen
- Diagnosis of acquired bone marrow failure syndrome during childhood using the 2008 World Health Organization classification system
- A Case of Congenital Dyserythropoietic Anemia Type 1 in a Japanese Adult with a CDAN1 Gene Mutation and an Inappropriately Low Serum Hepcidin-25 Level
- Congenital dyserythropoietic anemia type 1 with a novel mutation in the CDAN1 gene previously diagnosed as congenital hemolytic anemia