Identification and functional analysis of novel calcium-sensing receptor gene mutation in familial hypocalciuric hypercalcemia

スポンサーリンク

概要

• 論文の詳細を見る
• 2010-09-01

著者

• 清水 力

  北海道大学病院検査・輸血部

• MIYOSHI Hideaki

  Department of Gastroenterology and Hepatology, Kansai Medical University

• YOSHIOKA Narihito

  Department of Medicine II, Hokkaido University Graduate School of Medicine

• Shimizu Chikara

  Department Of Medicine Ii Division Of Pathophysiological Science Hokkaido University Graduate School

• Yoshioka Narihito

  Department Of Medicine Ii Hokkaido University Graduate School Of Medicine

• Koike Takao

  Department Of Internal Medicine Hokkaido University School Of Medicine

• Nagai So

  Department Of Medicine Ii Hokkaido University Graduate School Of Medicine

• KONDO Takuma

  Department of Medicine II, Hokkaido University Graduate School of Medicine

• Tajima Toshihiro

  Department Of Pediatrics Hokkaido University Graduate School Of Medicine

• Nanjo Kazuhiro

  Department Of Medicine Ii Hokkaido University Graduate School Of Medicine

• Miyoshi Hideaki

  Department Of Medicine Ii Hokkaido University Graduate School Of Medicine

• Miyoshi Hideaki

  Department of Bioinformatics and Genomics, Nara Institute of Science and Technology, Ikoma, Nara 630-0192, Japan

• Koike Takao

  Department of Medicine II, Hokkaido University Graduate School of Medicine

• KOIKE Takao

  Department II, Hokkaido University Graduate School of Medicine

• Yoshioka Narihito

  Department of Diabetes and Endocrine Medicine, Kagoshima University Graduate School of Medical and Dental Science

関連論文

• インスリン低血糖試験における有効刺激と metabolic syndrome との関連性について
• 2型糖尿病発症を契機に発見された腎性尿崩症の一例
• 先端巨大症患者の耐糖能におよぼす酢酸オクトレオチドの長期効果の検討
• α-subunit が著明高値を示した TSH・GH 産生下垂体腺腫の1例
• ^C-acetate 呼気試験による糖尿病性胃麻庫の検討
• 酢酸オクトレオチド試験投与を契機に総胆管結石を発見し, 結石除去後, 再投与した際に薬剤性胆汁うっ滞を認めた先端巨大症の1例
• マウス副腎皮質刺激ホルモン受容体遺伝子の構造
• A Novel Initial Codon Mutation of the Thiazide-sensitive Na-Cl Cotransporter Gene in a Japanese Patient with Gitelman's Syndrome
• Perilipin Overexpression in White Adipose Tissue Induces a Brown Fat-Like Phenotype
• Complete remission of splenic marginal zone lymphoma after an acute flare-up of hepatitis B in a hepatitis B virus carrier
• 43 Common origin of the Q258X mutation in StAR gene responsible for congenital aderenal lipoid hyperplasia in Japanese
• 異常ヘモグロビン症 Hb J-Bangkok における各種測定法での HbA1C値の乖離
• Increase in plasma thrombin-activatable fibrinolysis inhibitor may not contribute to thrombotic tendency in antiphospholipid syndrome because of inhibitory potential of antiphospholipid antibodies toward TAFI activation
• 先端巨大症術後の成長ホルモンとIGF-1の正常化に要する期間についての検討 : いつ判定し薬物療法を導入するか
• プロラクチノーマにおける cabergoline の効果
• 3次元電気泳動法の確立 : IgG型M蛋白の多様性解析への応用
• インタクトPTH試薬Eテスト「TOSOH」II (インタクトPTH) の基礎的検討
• Case Study of a 15-Year-old Boy with McCune-Albright Syndrome Combined with Pituitary Gigantism : Effect of Octreotide-long Acting Release (LAR) and Cabergoline Therapy
• Four Japanese Patients with Adrenal Hypoplasia Congenita and Hypogonadotropic Hypogonadism Caused by DAX-1 Gene Mutations : Mutant DAX-1 Failed to Repress Steroidogenic Acute Regulatory Protein (StAR) and Luteinizing Hormone β-subunit Gene Promoter Activi
• A Novel Mutation of the Steroidogenic Acute Regulatory Protein (StAR) Gene in a Japanese Patient with Congenital Lipoid Adrenal Hyperplasia
• Novel SLC12A1 (NKCC2) Mutations in Two Families with Bartter Syndrome Type 1
• A Novel Missense Mutation (P366T) of the LHX4 Gene Causes Severe Combined Pituitary Hormone Deficiency with Pituitary Hypoplasia, Ectopic Posterior Lobe and a Poorly Developed Sella Turcica
• Two Novel Aquaporin-2 Mutations in a Sporadic Japanese Patient with Autosomal Recessive Nephrogenic Diabetes Insipidus
• A Case of Achondroplasia Associated with Cervicomedullary-Junction Compression
• Two Novel Mutations of Thiazide-Sensitive Na-Cl Cotransporter (TSC) Gene in Two Sporadic Japanese Patients with Gitelman Syndrome
• Turner Syndrome with Crohn Disease
• Two mutations of the Gsα gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia
• Evaluation of Bone Mineral Density in Patients with Turner Syndrome
• A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal
• A Japanese Case with Frasier Syndrome Caused by the Splice Junction Mutation of WT1 Gene
• PREDOMINANCE OF THE MUTATION AT 1138 OF THE cDNA FOR THE FIBROBLAST GROWTH FACTOR RECEPTOR 3 IN JAPANESE PATIENTS WITH ACHONDROPLASIA
• A Japanese Patient of Congenital Hypothyroidism with Cerebellar Atrophy
• Successful treatment of acute myelogenous leukemia with favorable cytogenetics by reduced-intensity stem cell transplantation
• Cord blood transplantation with a reduced-intensity conditioning regimen for patients with relapsed aggressive multiple myeloma after cytoreduction with bortezomib
• Efficacy of combination treatment with cyclosporin A and corticosteroids for acute interstitial pneumonitis associated with dermatomyositis
• Peripheral Pulmonary Embolism Related to a Thrombus of the Inferior Vena Cava Triggering Fatal Adrenal Crisis in Sheehan's Syndrome
• Impact of trough serum level on radiographic and clinical response to infliximab plus methotrexate in patients with rheumatoid arthritis : results from the RISING study
• Efficacy of high-dose intravenous immunoglobulin therapy in Japanese patients with steroid-resistant polymyositis and dermatomyositis
• 3P-177 光ピンセット細胞触診システムによる細胞接着の力学的機構への力学的アプローチ(細胞生物学的課題(3),第46回日本生物物理学会年会)
• Comparison of two assays for fibroblast growth factor (FGF)-23
• Long-term outcome of autoimmune pancreatitis
• Life expectancies of Japanese patients with rheumatoid arthritis : a review of deaths over a 20-year period
• Polymyalgia rheumatica as the manifestation of unclassified aortitis
• The p38 mitogen-activated protein kinase (MAPK) pathway mediates induction of the tissue factor gene in monocytes stimulated with human monoclonal anti-β_2Glycoprotein I antibodies
• A Woman with Infectious Endocarditis Caused by Abiotrophia defectiva
• The Potential Role of Macrophage Migration Inhibitory Factor on the Migration of Vascular Smooth Muscle Cells
• A novel mutation of WFS1 gene in a Japanese man of Wolfram syndrome with positive diabetes-related antibodies
• Cat-eye Syndrome with Isolated Idiopathic Hypogonadotropic Hypogonadism
• Adult-onset Idiopathic Hypogonadotropic Hypogonadism due to Isolated Pituitary Gonadotropin Deficiency
• Involvement of the Cholinergic Pathway in the Pathogenesis of Pituitary Cushing's Syndrome
• Alternate Exon in the 5'-Untranslated Region of the Human ACTH Receptor Gene
• The inhibition of protein C anticoagulant activity by anti-β_2-glycoprotein I (β_2GPI) antibodies isolated from patients with antiphospholipid syndrome by chromatography methods
• Two Children with Xanthogranuloma of the Sellar Region
• Familial hypomagnesemia with hypercalciuria and nephrocalcinosis : unusual clinical associations and novel claudin16 mutation in an Egyptian family
• Reply to Dr Mussa A et al.
• A Novel V2 Vasopressin Receptor Mutation with X-Linked Nephrogenic Diabetes Insipidus
• Two Japanese Patients with Gitelman Syndrome
• Molecular Analysis of the CLCNKB Gene in Japanese Patients with Classic Bartter Syndrome
• Two Novel Mutations in the Thyroid Peroxidase Gene with Goitrous Hypothyroidism
• A Pseudohypoparathyroidism Type Ia Patient with Normocalcemia
• A Novel Heterozygous Mutation of Steroidogenic Factor-1 (SF-1/Ad4BP) Gene (NR5A1) in a 46, XY Disorders of Sex Development (DSD) Patient without Adrenal Failure
• CD25^+CD4^+ regulatory T cells exert in vitro suppressive activity independent of CTLA-4
• A wide spectrum of cellagen vascular and autoimmune diseases in transgenic rats carrying the env-pX gene of human T lymphocyte virus type I
• Antigenic structures recognized by anti-β2-glycoprotein I auto-antibodies
• Anti-β_2-glycoprotein I antibodies in children with atopic dermatitis
• A case of melorheostosis with linear sclerodermatous skin changes
• Immunologic characterization and functional properties of murine antibodies raised against deleted mutants of human β_2-glycoprotein I
• A novel missense mutation in the thyroid hormone receptor β gene in a kindred with resistance to thyroid hormone
• A Case of Deoxycorticosterone-Producing Adrenal Adenoma
• Hepatic Manifestations of the Antiphospholipid Syndrome
• Unexpected role of TNF-α in graft versus host reaction (GVHR) : donor-derived TNF-α suppresses GVHR via inhibition of IFN-γ-dependent donor type-1 immunity
• Lupus Cystitis in the Japanese
• 21-Hydroxylase Deficiency Presenting as Massive Bilateral Adrenal Masses in the Seventh Decade of Life
• Screening for rheumatoid arthritis with finger joint power Doppler ultrasonography : quantification of conventional power Doppler ultrasonographic scoring
• Increased Fructose 2,6-bisphosphate in Peripheral Blood Mononuclear Cells of Patients with Diabetes
• Z-100,Extracted from Mycobacterium tuberculosis Strain Aoyama B, Inhibits the Development of Collagen-Induced Arthritis in Mice
• Hemophagocytic Syndrome in Autoimmune Diseases
• High-Dose Immunoablative Therapy with Hematopoietic Stem Cell Support in the Treatment of Severe Autoimmune Disease : Current Status and Future Direction
• Pulmonary Hypertension and the Antiphospholipid Syndrome
• Characteristics and pathogenic role of anti-β2-glycoprotein I single-chain Fv domains: induction of experimental antiphospholipid syndrome
• Increased Na reabsorption via the Na-Cl cotransporter in autosomal recessive pseudohypoaldosteronism
• Thy-1 induced on rat endothelium regulates vascular permeability at sites of inflammation
• A Novel PAX4 Mutation in a Japanese Patient with Maturity-Onset Diabetes of the Young
• Transplantation-associated thrombotic microangiopathy after steroid pulse therapy for polyserositis related to graft-versus-host disease
• Antiphospholiped syndrome
• Gitelmans Syndrome with Mental Retardation
• Molecular analysis of the GATA3 gene in five Japanese patients with HDR syndrome
• A comparison of pregnancy outcomes in Japanese women with type 2 and type 1 diabetes mellitus at tertiary centers
• Clinical features of reversible posterior leukoencephalopathy syndrome in patients with systemic lupus erythematousus
• Mutation analysis of the SDHB and SDHD genes in pheochromocytomas and paragangliomas : identification of a novel nonsense mutation (Q168X) in the SDHB gene
• ペグビソマント投与前後の耐糖能の変化を経口ブドウ糖負荷試験にて検討した先端巨大症の3症例
• Identification and functional analysis of novel calcium-sensing receptor gene mutation in familial hypocalciuric hypercalcemia
• Effects of intravenous immunoglobulin therapy in Japanese patients with polymyositis and dermatomyositis resistant to corticosteroids : a randomized double-blind placebo-controlled trial
• The PREDICTIVE^ Study : a multinational, prospective observational study to evaluate the safety and efficacy of insulin detemir treatment in patients with type 1 and 2 diabetes-data from the Japan cohort
• Treatment of idiopathic pituitary dwarfism with methionyl human growth hormone.
• Alternate Promoter and 5'-Untranslated Exon Usage of the Mouse Adrenocorticotropin Receptor Gene in Adipose Tissue
• Two novel mutations of the CYP11B2 gene in a Japanese patient with aldosterone deficiency type 1
• Favorable Impact of Growth Hormone Treatment on Cholesterol Levels in Turner Syndrome
• Molecular and Clinical Findings in Patients with LHX4 and OTX2 Mutations
• A Novel Splicing Mutation of the GNAS Gene in a Patient with Pseudohypoparathyroidism Ia

もっと見る 閉じる

スポンサーリンク