A novel homozygous missense mutation in the fatty aldehyde dehydrogenase gene causes Sjogren-Larsson syndrome
スポンサーリンク
概要
- 論文の詳細を見る
- 2008-11-01
著者
-
Nakano Hajime
Department of Dermatology, Hirosaki University Graduate School of Medicine
-
SAWAMURA Daisuke
Department of Dermatology, School of Medicine, Hirosaki University Hirosaki
-
Sawamura Daisuke
駿河台日本大学病院 皮膚科
-
Sawamura Daisuke
Department Of Dermatology Hirosaki University Graduate School Of Medicine
-
Nakano H
Department Of Dermatology Hirosaki University Graduate School Of Medicine
-
Nakano Hajime
弘前大学 医学部皮膚科学
-
Nakano Hajime
駿河台日本大学病院 皮膚科
-
Yokoyama Shohei
Department Of Dermatology Hirosaki University School Of Medicine
-
Yokoyama Shohei
Department Of Dermatology Aomori National Hospital
-
Nakano Hajime
Department Of Dermatology Hirosaki University Graduate School Of Medicine
-
UMEGAKI NORIKO
Department of Dermatology, Hirosaki University School of Medicine
-
ROKUNOHE Daiki
Department of Dermatology, Hirosaki University Graduate School of Medicine
-
AKASAKA Eijiro
Department of Dermatology, Hirosaki University Graduate School of Medicine
-
TOYOMAKI Yuka
Department of Dermatology, Hirosaki University Graduate School of Medicine
-
MITSUHASHI Yoshihiko
Department of Dermatology, Tokyo Medical University
-
Toyomaki Yuka
Department Of Dermatology Hirosaki University Graduate School Of Medicine
-
Rokunohe Daiki
Department Of Dermatology Hirosaki University Graduate School Of Medicine
-
Akasaka Eijiro
Department Of Dermatology Hirosaki University Graduate School Of Medicine
-
Umegaki Noriko
Department Of Dermatology Hirosaki University Graduate School Of Medicine
-
Mitsuhashi Yoshihiko
Department Of Dermatology Tokyo Medical University
-
Mitsuhashi Yoshihiko
Department Of Dermatology Hirosaki University Graduate School Of Medicine
-
Nakano Hajime
Department Of Cardiovascular Medicine Ohmori Hospital Toho University School Of Medicine
-
Umegaki Noriko
Department Of Dermatology Course Of Integrated Medicine Graduate School Of Medicine Osaka University
-
Sawamura Daisuke
Department of Dermatology, Hirosaki University School of Medicine
関連論文
- Characterization of Hair Follicles in Hirosaki Hairless Rats with Deletion of Basic Hair Keratin Genes. Enlarged Medulla, Loss of Cuticle and Long Catagen
- Retinoic acid-inducible gene-I（ RIG-I） and diseases
- Role of β-defensins in oral epithelial health and disease
- -474-AN ISSUE AND UTILITY OF PTCA FOR SILENT MYOCARDIAL ISCHEMIA : PTCA, CABG : FREE COMMUNICATIONS(II) : PROCEEDINGS OF THE 53th ANNUAL SCIENTIFIC MEETING OF THE JAPANESE CIRCULATION SOCIETY
- -473-IS PTCA EFFECTIVE STRATEGY FOR SILENT MYOCARDIAL ISCHEMIA (SMI)? : EFFICACY OF PTCA FOR SMI IN TERMS OF ANAEROBIC THRESHOLD (AT) : PTCA, CABG : FREE COMMUNICATIONS(II) : PROCEEDINGS OF THE 53th ANNUAL SCIENTIFIC MEETING OF THE JAPANESE CIRCULATION SO
- -251-HOW EXPECTABLE IS THE PERSISTENT PATENCY OF DILATED OR NON-DILATED VESSELS AFTER PTCA? : PTCA, CABG : FREE COMMUNICATIONS(I) : PROCEEDINGS OF THE 53th ANNUAL SCIENTIFIC MEETING OF THE JAPANESE CIRCULATION SOCIETY
- -248-LONG TERM RESULTS OF PERCUTANEOUS TRANSLUMINAL CORONARY ANGIOPLASTY : PTCA, CABG : FREE COMMUNICATIONS(I) : PROCEEDINGS OF THE 53th ANNUAL SCIENTIFIC MEETING OF THE JAPANESE CIRCULATION SOCIETY
- Amicrobial pustulosis associated with IgA nephropathy and Sjögren's syndrome
- ITGB4 missense mutation in a transmembrane domain causes non-lethal variant of junctional epidermolysis bullosa with pyloric atresia
- Keratin 1 Gene Mutation Detected in Epidermal Nevus with Epidermolytic Hyperkeratosis
- Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity
- Juvenile myelomonocytic leukemia presenting multiple painful erythematous lesions diagnosed as Sweet's syndrome
- Case of hypereosinophilic syndrome with cutaneous necrotizing vasculitis
- COL7A1 mutation G2037E causes epidermal retention of type VII collagen
- PE-050 Long-Term Prognosis of Permanent Inferior Vena Cava Filter in Deep Vein Thrombosis Associated with Pulmonary Thromboembolism(Thromboembolism/Thrombolysis 1 (IHD) : PE9)(Poster Session (English))
- In vivo transfer of TGF-α and β genes to keratinocytes
- Low-grade myxofibrosarcoma invaded into the underlying skeletal muscle
- Remodeling of desmosomal and hemidesmosomal adhesion systems during human hair follicle development
- Cytokine modulation of retinoic acid-inducible gene-I (RIG-I) expression in human epidermal keratinocytes
- Possible role of 1,25-dihydroxyvitamin D_3-induced metallothionein in photoprotection against UVB injury in mouse skin and cultured rat keratinocytes
- -0701-IS PTCA EFFECTIVE PROCEDURE FOR SILENT MYOCARDIAL ISCHEMIA (SMI)? EVATION FROM THE VIEWPOINT OF ANAEROBIC THRESHOLD (AT) BY MESUREMENT OF VENOUSE LACTIC ACID (IInd REPORT)
- A Japanese family with dominant pretibial dystrophic epidermolysis bullosa : Identification of a new glycine substitution in the triple-helical collagenous domain of type VII collagen
- Genotype-phenotype correlation in non-Hallopeau-Siemens recessive dystrophic epidermolysis bullosa : The splice site mutation c.6216+5G>T in the COL7A1 gene results in aberrant and normal splicings
- A case of Meckel's diverticulum adherent to the posterior abdominal wall : the efficacy of small-bowel radiography coupled with barium enema examination
- PJ-480 A Study of Characteristics of Myocardial Bridge in Patients with Myocardial Infarction by Using Multi-Detector Computed Tomography(PJ081,CT/MRI (Coronary/Vascular) 3 (I),Poster Session (Japanese),The 73rd Annual Scientific Meeting of The Japanese C
- PJ-171 Simvastatin Decreases Cardiac Oxidative Stress and Ameliorates Myocardial Dysfunction in Diabetic Cardiomyopathy, through Increasing Heme Oxygenase-1 (HO-1)(PJ029,Diabetes 2 (H),Poster Session (Japanese),The 73rd Annual Scientific Meeting of The Ja
- PJ-665 Evaluation of Myocardial Bridge and its Proximal Regions on MDCT(CT / DSA(10)(I),Poster Session(Japanese),The 72nd Annual Scientific Meeting of the Japanese Circulation Society)
- PJ-154 Evaluation of Sympathetic Activity By ^l-MIBG (Metaiodobenzylguanidine)Myocardial Scintigraphy in Dilated Cardiomyopathy Patientswith Sleep Breathing Disorder(Nuclear cardiology(07)(I),Poster Session(Japanese),The 72nd Annual Scientific Meetin
- PJ-798 Comparison between Long-acting and Short-acting Loop Diuretics in Chronic Heart Failure : Evaluation by I123MIBG(Heart failure, clinical-18, The 71st Annual Scientific Meeting of the Japanese Circulation Society)
- PE-262 SBD was Enhancement of Inflammatory and Nervus Sympathetic Activity?(Nuclear cardiology-3, The 71st Annual Scientific Meeting of the Japanese Circulation Society)
- OJ-134 The effect of varsaltan on insulin resistance and Aortic stiffness in hypertensive patients(Atherosclerosis, Clinical 2 (IHD) : OJ16)(Oral Presentation (Japanese))
- Effect of Helicobacter pylori eradication in the treatment of Japanese patients with chronic idiopathic urticaria
- Novel p.M1T and recurrent p.G301S mutations in cathepsin C in a Japanese patient with Papillon-Lefevre syndrome : Implications for understanding the genotype/phenotype relationship
- A novel homozygous missense mutation in the fatty aldehyde dehydrogenase gene causes Sjogren-Larsson syndrome
- Dominant dystrophic epidermolysis bullosa caused by a novel G2037R mutation and by a known G2028R mutation in the type VII collagen gene (COL7A1)
- A novel Sp1-family-related cis-acting element for transcription of type VII collagen gene (COL7A1)
- Expression vector with DNA of bovine papilloma virus 1 for keratinocyte gene therapy
- A KERATIN K10 GENE MUTATION IN A JAPANESE PATIENT WITH EPIDERMOLYTIC HYPERKERATOSIS
- Clinical and genetic analysis of Fabry disease : report of six cases including three heterozygous females
- Novel mutation in a fumalate hydratase gene of a Japanese patient with multiple cutaneous and uterine leiomyomatosis
- Calcineurin/NFAT-dependent regulation of 230-kDa bullous pemphigoid antigen (BPAG1) gene expression in normal human epidermal keratinocytes
- Significance of sentinel node biopsy in the management of squamous cell carcinoma arising from recessive dystrophic epidermolysis bullosa
- Vitamin D_3 inhibits expression of bullous pemphigoid antigen 1 through posttranscriptional mechanism without new protein synthesis
- A method for rapid evaluation of photoaging by measuring fluorescence intensity of green fluorescent protein due to elastin promoter activity
- Human Metallothionein Gene Expression Is Upregulated by β-Thujaplicin : Possible Involvement of Protein Kinase C and Reactive Oxygen Species(Molecular and Cell Biology)
- A case of bullous dermatitis artefacta possibly induced by a deodorant spray
- A Japanese Case of Nuchal-Type Fibroma
- A Case of Photocontact Urticaria Induced by Photodynamic Therapy with Topical 5-Aminolaevulinic Acid
- Superficial Granulomatous Pyoderma : A Case Report of Two Japanese Patients and Clinical Comparison with Foreign Patients
- Identification of Glutathione S-Transferase p-1 as the Class Pi Form Dominantly Expressed in Mouse Hepatic Adenomas
- Decrease in Class Pi Glutathione Transferase mRNA Levels by Ultraviolet Irradiation of Cultured Rat Keratinocytes
- A unique monoclonal antibody 29A stains the cytoplasm of amniotic epithelia and cutaneous basement membrane
- Possible role of endoplasmic reticulum stress in the pathogenesis of Darier's disease
- Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism
- Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa
- The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa
- Delayed Adverse Reactions to Iodinated Contrast Media and Their Risk Factors
- Coexistence of Generalized Morphea with Histological Changes in Lichen Sclerosus et Atrophicus and Lichen Planus
- Prurigo Pigmentosa on a Patient with Soft-Drink Ketosis
- Iatrogenic Hypercalcemia Due to Vitamin D_3 Ointment (1, 24(OH)_2D_3) Combined with Thiazide Diuretics in a Case of Psoriasis
- Acute Generalized Exanthematous Pustulosis Induced by Salazosulfapyridine in a Patient with Ulcerative Colitis
- Sister Joseph's Nodule : A Case Report and Review of the Japanese Literature
- Toxic Epidermal Necrolysis Possibly Linked to Hyperacute Graft-versus-Host Disease after Allogeneic Bone Marrow Transplantation
- Six novel mutations of the ADAR1 gene in patients with dyschromatosis symmetrica hereditaria : Histological observation and comparison of genotypes and clinical phenotypes
- A Case of Infantile Digital Fibromatosis with Spontaneous Regression
- Depigmented Macula as an Initial Manifestation of Extramammary Paget's Disease
- Hydroa Vacciniforme-like Eruptions in a Patient with Chronic Active EB Virus Infection
- Scleroedema in a Child
- Case of localized scleroderma successfully treated with bath psoralen and ultraviolet A therapy
- Cutaneous Disseminated Actinomycosis in a Patient with Acute Lymphocytic Leukemia
- Squamous Cell Carcinoma Arising in Chronic Perianal Pyoderma : A Case Report and Review of Japanese Literature
- E-cadherin Expression in Skin Tumors Using an AMeX Immunohistostaining Method
- An Immunohistochemical Study of E-Cadherin Expression in Human Squamous Cell Carcinoma of the Skin : Relationship between Decreased Expression of E-Cadherin in the Primary Lesion and Regional Lymph Node Metastasis
- A Case of Triple Extramammary Paget's Disease
- Mutation analyses of patients with dyschromatosis symmetrica hereditaria : Five novel mutations of the ADAR1 gene
- Linear immunoglobulin A bullous dermatosis possibly induced by mefenamic acid
- Leukemia cutis is an early sign of blast transformation that may mimic a common skin disease : Sycosis-like eruptions in chronic myelomonocytic leukemia
- Relation between the expression levels of the POU transcription factors Skn-1a and Skn-1n and keratinocyte differentiation
- Raf kinase inhibitor protein expression correlates with differentiation but not with ERK phosphorylation in cutaneous squamous cell carcinoma
- Lymphoscintigraphy for sentinel lymph node mapping in Japanese patients with malignant skin neoplasms of the lower extremities : comparison with previously investigated Japanese lymphatic anatomy
- Overview of epidermolysis bullosa
- Hailey-Hailey disease with affective disorder : Report of a case with novel ATP2C1 gene mutation
- Immunohistochemical Differentiation of Extra-Ocular Sebaceous Carcinoma from Other Skin Cancers
- Athlete's nodule
- Contact Dermatitis Due to Sodium Colistimethate
- Lichen Striatus in an Adult
- Dystrophic epidermolysis bullosa pruriginosa of elderly onset
- Expression of Raf Kinase Inhibitor Protein in Keratinocyte Differentiation in the Mouse Epidermis
- Garlic-induced irritant contact dermatitis mimicking nail psoriasis
- Osteo-nevus of Nanta : A Case Report and Review of the Japanese Literature
- Good's syndrome (hypogammaglobulinemia with thymoma) presenting intractable opportunistic infections and hyperkeratotic lichen planus
- The compound heterozygote for new/recurrent COL7A1 mutations in a Japanese patient with bullous dermolysis of the newborn
- Impact of Sedative and Non-Sedative Antihistamines on the Impaired Productivity and Quality of Life in Patients with Pruritic Skin Diseases
- Two cases of recessive dystrophic epidermolysis bullosa diagnosed as severe generalized
- Characterization of Stimulator of Interferon Genes (STING) Expression in Human Epidermal Keratinocytes
- Reduction in epidermal Langerhans cells in patients with necrolytic migratory erythema
- Follicular mucinosis associated with radiation therapy
- Elderly cases of Churg-Strauss syndrome: Case report and review of Japanese cases
- Nephrogenic systemic fibrosis : A case report and review on Japanese patients
- Novel mutation in the ATP2A2 gene in a Japanese Darier's disease patient with extremely hyperkeratotic lesions