Mutational Analysis of Androgen Receptor (AR) Gene in 46, XY Patients with Ambiguous Genitalia and Normal Testosterone Secretion : Endocrinological Characteristics of Three Patients with AR Gene Mutations
スポンサーリンク
概要
著者
-
NAWATA Hajime
Department of Medicine and Bioregulatory Science, Graduate School of Medical Sciences
-
Miyamoto J
秋田大学 医学部小児科学
-
HASEGAWA TOMONOBU
Department of Pediatrics, Keio University School of Medicine
-
Nakai Hideo
Urology Unit Tokyo Metropolitan Kiyose Children's Hospital
-
Nakai Hideo
Urology Unit Dokkyo University School Of Medicine
-
Miyamoto Junko
Endocrinology Metabolism And Genetics Unit Tokyo Metropolitan Kiyose Children's Hospital
-
HASEGAWA Yukihiro
Endocrinology, Metabolism, and Genetics unit, Tokyo Metropolitan Kiyose Children's Hospital
-
Nawata Hajime
Department Of Anesthesiology And Critical Care Medicine Kyushu University School Of Medicine
-
Nawata Hajime
Department Of Medicine And Bioregulatory Science (third Department Of Internal Medicine) Graduate Sc
-
Hasegawa Yukihiro
Endocrinology And Metabolism Unit Tokyo Metropolitan Kiyose Children's Hospital
-
Hasegawa Yukihiro
Department Of Endocrinology And Metabolism Tokyo Metropolitan Kiyose Children's Hospital
-
Asanuma Hiroshi
Urology Unit Tokyo Metropolitan Kiyose Children's Hospital
-
Miyamoto Junko
Endocrinology And Metabolism Unit Tokyo Metropolitan Kiyose Children's Hospital
-
Hasegawa Y
Department Of Laboratory Medicine Osaka University Medical School
-
Hasegawa Tomonobu
Department Of Pediatrics Keio University School Of Medicine
-
Hasegawa Yukihiro
Endocrinology And Metabolism Division Tokyo Metropolitan Children's Medical Center
関連論文
- Expression and Diagnostic Evaluation of the Human Tumor-Associated Antigen RCAS1 in Pancreatic Cancer
- The time course of gap-junctional protein connexin 32 expression in the pancreas after the induction of acute pancreatitis by caerulein in rats
- VIP Attenuation of the Severity of Experimental Pancreatitis Is Due to VPAC_1 Receptor-Mediated Inhibition of Cytokine Production
- Acute Pancreatitis in the Early Stages of Pregnancy Associated With a PSTI Gene Mutation
- Lemierre's Syndrome : Porphyromonas asaccharolytica as a Putative Pathogen
- Primary hepatic lymphoma in a patient with Sjogren's syndrome
- ANTI-MONOCYTE CHEMOATTRACTANT PROTEIN-1 GENE THERAPY PREVENTS DIMETHYLNITROSAMINE-INDUCED HEPATIC FIBROSIS IN RATS
- PREVENTION OF HEPATIC FIBROSIS BY MODULATING RHO-ROCK SIGNALING PATHWAY
- Serum levels of HCV RNA and core protein before and after incubation at 37℃ for 24h
- Transforming Growth Factor-α Induces the Differentiation of Sarcomatoid Cholangiocarcinoma Cells
- Mutation of a Gene for Thyroid Transcription Factor-1 (TITF1) in a Patient with Clinical Features of Resistance to Thyrotropin
- Expression of Human Tumor-Associated Antigen RCAS1 in Adult T-Cell Leukemia/Lymphoma
- Expression of Apoptosis-Associated Protein RCAS1 in Macrophages of Histiocytic Necrotizing Lymphadenitis
- Cytotoxic T-Cell Lymphoma Diffusely Involving the Entire Gastrointestinal Tract Associated With Epstein-Barr Virus and Tubercle Bacilli Infection
- Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients
- Successful Treatment with Nonmyeloablative Allogeneic Hematopoietic Stem Cell Transplantation in a Patient with Acute Myeloid Leukemia Complication with Pulmonary Infection
- The Signaling Pathways of Erythropoietin and Interferon-γ Differ in Preventing the Apoptosis of Mature Erythroid Progenitor Cells
- Eradication of Virus-Infected T-Cells in a Case of Adult T-Cell Leukemia/Lymphoma by Nonmyeloablative Peripheral Blood Stem Cell Transplantation with Conditioning Consisting of Low-Dose Total Body Irradiation and Pentostatin
- Fludarabine-Based Conditioning Used in Successful Bone Marrow Transplantation from an Unrelated Donor in a Heavily Transfused Patient with Severe Aplastic Anemia
- Autoimmune Neutropenia With Cyclic Oscillation of Neutrophil Count After Steroid Administration
- A Sudden Death Due to Central Hypoventilation in A 3-Year-Old Boy with Idiopathic Hypothalamic Dysfunction
- A Sudden Death Due to Central Hypoventilation in A 3-Year-Old Boy with Idiopathic Hypothalamic Dysfunction
- Expression of Adipose Differentiation-Related Protein (ADRP) Is Conjointly Regulated by PU.1 and AP-1 in Macrophages
- Analysis of the NSD1 promoter region in patients with a Sotos syndrome phenotype
- Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Leri-Weill dyschondrosteosis
- Comparison of two assays for fibroblast growth factor (FGF)-23
- Final Height of Female Patients with Early-onset Anorexia Nervosa
- Final Height of Female Patients with Early-onset Anorexia Nervosa
- Lack of Correlation between the Endocrinological Abnormalities and Obesity Index in Anorexia Nervosa in Childhood and Adolescence
- 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
- No Improvement of Adult Height in Non-growth Hormone (GH) Deficient Short Children with GH Treatment
- Studies of Very Severe Short Stature with Severe GH Deficiency : From the Data Registered with the Foundation for Growth Science
- Genome-wide linkage analysis of type 2 diabetes mellitus reconfirms the susceptibility locus on 11p13-p12 in Japanese
- SAFE ENDOSCOPIC RESECTION USING A DETACHABLE SNARE : LARGE PEDUNCULATED BRUNNER'S GLAND HYPERPLASIA
- MEN1 Gene Analysis in Patients with Primary Hyperparathyroidism : 10-year Experience of a Single Institution for Thyroid and Parathyroid Care in Japan
- BRAF Mutation in Papillary Thyroid Carcinoma in a Japanese Population : Its Lack of Correlation with High-Risk Clinicopathological Features and Disease-Free Survival of Patients
- Hypertonic saline-epinephrine injection plus endoscopic band ligation therapy for gastric Dieulafoy's lesion
- Importance of TGF-β expressed by regulatory T cells for immunosuppression at mucosal surface
- Novel germline mutation of the PTEN gene in Japanese family with Cowden disease
- PEDUNCULATED GASTRIC CARCINOMA DEMONSTRATING A GASTRIC FOVEOLAR PHENOTYPE
- Altered gap junction activity in cardiovascular tissues of diabetes
- Blocking of monocyte chemoattractant protein-1 (MCP-1) activity attenuates the severity of acute pancreatitis in rats
- A Case of a Preterm Infant with 21-Hydroxylase Deficiency : Implications of the Biochemical Diagnosis with Urinary Pregnanetriolone by Gas Chromatography/Mass Spectrometry in Selected Ion Monitoring (GCMS-SIM)
- A Case of Pediatric Virilizing Adrenocortical Tumor Resulting in Hypothalamic-pituitary Activation and Central Precocious Puberty Following Surgical Removal
- The Circadian Variation of Cortisol Secretion in Patients with Anorexia Nervosa in Childhood and Adolescence after Recovery of Body Weight by Treatment Using Gas Chromatography/Mass Spectrometry in Selected Ion Monitoring
- Reference Values for Urinary Steroids in Japanese Newborn Infants : Gas Chromatography/Mass Spectrometry in Selected Ion Monitoring
- Y-box binding protein expression in thyroid neoplasms : Its linkage with anaplastic transformation
- Changes in Serum Sex Hormone Profiles after Short-term Low-dose Administration of Dehydroepiandrosterone (DHEA) to Young and Elderly Persons
- Coregulator-Related Diseases
- Statural Growth in 31 Japanese Patients with SHOX Haploinsufficiency : Support for a Disadvantageous Effect of Gonadal Estrogens
- A comparison of incidences of vertebral fracture in Japanese patients with involutional osteoporosis treated with risedronate and etidronate : a randomized, double-masked trial
- Prevalence of TSH Receptor and Gsα Mutations in 45 Autonomously Functioning Thyroid Nodules in Japan
- Large-scale Analysis of Mutations in RET Exon 16 in Sporadic Medullary Thyroid Carcinomas in Japan
- A Case of Repeated Painless Thyroiditis Followed by Graves' Disease
- Androgen Insensitivity by Coactivator Abnormality
- Efficacy and tolerability of once-weekly administration of 17.5mg risedronate in Japanese patients with involutional osteoporosis : a comparison with 2.5-mg once-daily dosage regimen
- Gonadal Function in 15 Patients Associated with WT1 Gene Mutations
- Association of Micropenis with Pro185Ala Polymorphism of the Gene for Aryl Hydrocarbon Receptor Repressor Involved in Dioxin Signaling
- Glucosamine-induced β-cell Dysfunction : A Possible Involvement of Glucokinase or Glucose-transporter Type 2
- Utility of Computed Tomography in Identifying an Ectopic Thyroid in Infants and Pre-school Children
- Quantitative Analysis of Osteonectin mRNA in Thyroid Carcinomas
- Self-Examination of Thyroid Nodules
- Increased Free Form of Insulin-Like Growth Factor-I in Circulation throughout Normal Human Pregnancy
- Clinical Utility of Insulin-Like Growth Factor-l(IGF-I)and IGF Binding Protein-3 Levels in the Diagnosis of GH Deficiency(GHD)During Childhood
- Practical Treatment with Minimum Maintenance Dose of Anti-Thyroid Drugs for Prediction of Remission in Graves' Disease
- Blocking Type Anti-TSH Receptor Antibodies Detected by Radioreceptor Assay in Graves' Disease
- Genetic and enzymatic analysis for two Japanese patients with idiopathic infantile arterial calcification
- Pregnanetriol in the Range of 1.2-2.1mg/m^2/day as an Index of Optimal Control in CYP21A2 Deficiency
- Mutational Analysis of Androgen Receptor (AR) Gene in 46, XY Patients with Ambiguous Genitalia and Normal Testosterone Secretion : Endocrinological Characteristics of Three Patients with AR Gene Mutations
- A Novel Thyrotropin Receptor Germline Mutation (Asp617Tyr) Causing Hereditary Hyperthyroidism
- Adrenocorticotropic Hormone and 17-Hydroxyprogesterone Levels during High-dose Glucocorticoid Supplement for the Management of Clitoroplasty of CYP21A2 Deficiency
- A Case of Congenital Hypopituitarism: Difficulty in the Diagnosis of ACTH Deficiency Due to High Serum Cortisol Levels from a Hypothyroid State
- Abosence of Proteolysis of lnsulin-like Growth Factor Binding Protein-3 in Serum from Patients with Growth Hormone Deficiency
- Increase in Free Insulin-Like Growth Factor-I Levels in Precocious and Normal Puberty
- Proteolytic Activity of IGFBP-3 in Various Clinical Conditions During Childhood Studied by Means of Western Immunoblotting
- Development of Growth Hormone and Adrenocorticotropic Hormone Deficiencies in Patients with Prenatal or Perinatal-Onset Hypothalamic Hypopituitarism Having Invisible or Thin Pituitary Stalk on Magnetic Resonance Imaging
- Encapsulated Anaplastic Thyroid Carcinoma Without Invasive Phenotype with Favorable Prognosis : Report of a Case
- Effects of OP 2507, a Stable Analogue of Prostaglandin I_2, on Carbon Tetrachloride-Induced Liver Damage in Starved Rats
- Intravenous glycerol therapy should not be used in patients with unrecognized fructose-1, 6-bisphosphatase deficiency
- Joint laxity, vitreoretinal degeneration, facial abnormalities, and generalized skeletal alterations : A new syndrome?
- Expression of cdc25A and cdc25B Phosphatase in Breast Carcinoma
- Long-Term Effects of Thyroid Hormone on Lymphocyte Subsets in Spleens and Thymuses of Mice
- Significance of Thyroid Stimulating Antibody and Long Term Follow Up in Patients with Euthyroid Grave's Disease
- Thrombospondin 1 mRNA as a Candidate for a Marker to Detect Thyroid-derived Fibroblasts in Fine Needle Aspiration Biopsy of the Thyroid
- Hashimoto's Disease and Dr. Hakaru Hashimoto
- Z-338, a Newly Synthetized Carboxyamide Derivative, Stimulates Gastric Motility Through Enhancing the Excitatory Neurotransmission
- Ovarian Histological Findings in an Adult Patient with the Steroidogenic Acute Regulatory Protein (StAR) Deficiency Reveal the Impairment of Steroidogenesis by Lipoid Deposition
- Clinical findings and P450 Oxidoreductase (POR) gene analysis in Antley-Bixler syndrome with abnormal genitalia
- Evaluation of IGF-I Levels in Subjects whose GH Secretion Status was Judged Mainly by Auxological Data
- Growth Failure in an Infant with Congenital Nephrogenic Diabetes Insipidus During Sodium Restriction
- A Novel Mutation of Androgen Receptor Gene in Complete Androgen Insensitivity Syndrome
- Mental Retardation in a Boy with Congenital Adrenal Hypoplasia : A Clue to Contiguous Gene Syndrome Involving DAX1 and IL1RAPL
- A case of impairment of mitochondrial fatty acid β-oxidation
- Infrequent voiding in nephrogenic diabetes insipidus as a cause of renal failure
- A Response to Human Chorionic Gonadotropin Test in Boys with Normal Gonadal Function and with Hypogonadism
- Final Height of Japanese Patients with X-Linked Hypophosphatemic Rickets : Effect of Vitamin D and Phosphate Therapy
- 川崎病における抗利尿ホルモン不適合分泌症候群の検討
- Molecular analysis of the GATA3 gene in five Japanese patients with HDR syndrome
- High iFGF23 level despite hypophosphatemia is one of the clinical indicators to make diagnosis of XLH
- Serum FSH level below 10mIU/mL at twelve years old is an index of spontaneous and cyclical menstruation in Turner syndrome