A novel LMX1B nonsense mutation in a family with nail-patella syndrome
スポンサーリンク
概要
- 論文の詳細を見る
- 2008-10-01
著者
-
Imai Yuuki
Department Of Orthopaedic Surgery Osaka City University Graduate School Of Medicine
-
FUKAI Kazuyoshi
Department of Dermatology, Osaka City University Graduate School of Medicine
-
Shintaku Haruo
Department Of Pediatrics Osaka City University
-
Ishii Masamitsu
Department Of Dermatology Osaka City University Graduate School Of Medicine
-
Ishii Masamitsu
Department Of Dermatology Graduate School Of Medicine Osaka City University
-
Kitano Toshio
Department Of Pediatric Orthopaedic Surgery Children's Medical Center Osaka City General Hospit
-
Fukai Kazuyoshi
Department Of Dermatology Osaka City University Graduate School Of Medicine
-
Higashi Nobuhiko
Higashi Dermatology Clinic
-
OSHIMO Tomoko
Department of Dermatology, Osaka City University Graduate School of Medicine
-
Oshimo Tomoko
Department Of Dermatology Osaka City University Graduate School Of Medicine
関連論文
- Experimental pseudocyst model resembling human ganglion
- Osteoinductive capacity and heat stability of recombinant human bone morphogenetic protein-2 produced by Escherichia coli and dimerized by biochemical processing
- Sentinel Lymph Node Biopsy in Conjunctival Malignant Melanoma at the Lacrimal Caruncle A Case of Report
- An Extract of the Root of Lithospermun erythrorhison Accelerates Wound Healing in Diabetic Mice
- Accumulation of glucose in keloids with FDG-PET
- The effects of heat on the biological activity of recombinant human bone morphogenetic protein-2
- High 8-dehydrocholesterol level in a typical case of Conradi-Hunermann-Happle syndrome with a novel H76Y missense mutation
- Expression Analysis of the Aldo-Keto Reductases Involved in the Novel Biosynthetic Pathway of Tetrahydrobiopterin in Human and Mouse Tissues
- A case of 6-pyruvoyl-tetrahydropterin synthase deficiency demonstrates a more significant correlation of L-Dopa dosage with serum prolactin levels than CSF homovanillic acid leyels
- Butylated hydroxyanisole blocks the inhibitory effects of tumor necrosis factor-α on collagen production in human dermal fibroblasts
- A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2)
- Cyclic AMP enhances Smad-mediated BMP signaling through PKA-CREB pathway
- New treatment method for developmental dysplasia of the hips after walking age : arthroscopic reduction with limboplasty based on the findings of preoperative imaging
- A study of bone mineral density and physical growth in very low birth-weight infants after their discharge from hospital
- Expression profiles of phosphodiesterase 4D splicing variants in osteoblastic cells
- TIE2 Gain-of-Function Mutation in a Patient with Pancreatic Lymphangioma Associated with Blue Rubber-Bleb Nevus Syndrome : Report of a Case
- Cutaneous ulcer due to povidone-iodine solution
- Antitumor necrotic factor agent promotes BMP-2-induced ectopic bone formation
- Rapid detection of Bartonella henselae heat shock protein DNA by nested polymerase chain reaction from swollen lymph nodes of a patient with cat-scratch disease
- Local delivery of rolipram, a phosphodiesterase-4-specific inhibitor, augments bone morphogenetic protein-induced bone formation
- Laminin-511, inducer of hair growth, is down-regulated and its suppressor in hair growth, laminin-332 up-regulated in chemotherapy-induced alopecia
- RNA interference for noggin enhances the biological activity of bone morphogenetic proteins in vivo and in vitro
- Case of cheilitis granulomatosa associated with apical periodontitis
- Molecular mechanisms underlying the effects of sex steroids on bone and mineral metabolism
- Mutation analyses of patients with dyschromatosis symmetrica hereditaria : Five novel mutations of the ADAR1 gene
- A case of contact dermatitis due to Disperse Dyes in the blouse
- Deletion of distal promoter of VCXA in a patient with X-linked ichthyosis associated with borderline mental retardation
- New KIT mutations in patients with piebaldism
- A case of photosensitive drug eruption due to flutamide
- Bullous pemphigoid as a dermadrome associated with spindle cell carcinoma of the gallbladder
- Neonatal listeriosis with severe respiratory failure responding to nitric oxide inhalation
- Contact dermatitis due to cochineal carmine
- Aggressive Basal Cell Carcinoma in the Nasal Region
- Clinical Results of OK-432 Injection Therapy for Ganglions
- Molecular characterization of 6-pyruvoyl-tetrahydropterin synthase deficiency in Japanese patients
- Sensitization from cobalt chloride by patch testing
- Neopterin and biopterin concentrations in cerebrospinal fluid in controls less than 1 year old
- Papular-Purpuric Gloves-and-Socks Syndrome with Bloody Bullae
- Aggressive conservative therapy for refractory ulcer with diabetes and/or arteriosclerosis
- Biopterin in the acute phase of hypoxia-ischemia in a neonatal pig model
- 日本における新生児スクリーニング使用済み濾紙血の目的外使用と長期保存
- Diagnosis and treatment of 6-pyruvoyl-tetrahydropterin synthase deficiency
- A novel LMX1B nonsense mutation in a family with nail-patella syndrome
- A case of contact dermatitis due to glycidyl ether and polyamideamine in epoxy resin
- Importance of sentinel lymph node biopsy in Merkel cell carcinoma
- A case suggestive of systemic contact type dermatitis after lumbar anesthesia with tetracaine
- Spatial and temporal control of laminin-511 and -332 expressions during catagen
- The papillary structure identified by a novel nail wound healing model in mice
- Yellow urticaria associated with hepatitis type-C liver cirrhosis
- Measurement of bone mineral density of lumbar spine and whole body in low-birth-weight infants: comparison of two methods
- Giant epidermal cyst extending from sole to dorsum of the foot by penetrating the interosseous muscles
- A Case of Ileoileal Intussusception Caused by Metastatic Pedunculated Tumor of Cutaneous Angiosarcoma
- Dermatofibrosarcoma protuberans with atrophic appearance at early stage of the tumor
- Commentary on the mutation spectrum of and founder effects affecting the PTS gene in East-Asian populations
- Effects of Atorvastatin, Amlodipine, and Their Combination on Vascular Dysfunction in Insulin-Resistant Rats
- Allergic contact dermatitis caused by gum rosin and wood rosin in Tako-no-Suidashi ointment
- Recalcitrant subungual verruca of a child successfully treated with combination use of traditional Japanese herbal medicines, shokenchuto and makyoyokukanto
- Atypical epidermolysis bullosa simplex with a missense keratin 14 mutation p.Arg125Cys