Keratin 17 mutation in pachyonychia congenita type 2 patient with early onset steatocystoma multiplex and Hutchinson-like tooth deformity
スポンサーリンク
概要
- 論文の詳細を見る
- 2006-03-01
著者
-
Lee Jeong
Department of Obstetrics and Gynaecology, College od Medicine, Soonchunhyang University
-
Kim Moon
Department Of Immunology School Of Medicine Kyungpook National University
-
Oh Se-woong
Department Of Dermatology And Cutaneous Biology Research Institute Yonsei University College Of Medi
-
KIM Soo-Chan
Department of Dermatology and Cutaneous Biology Research Institute, Yonsei University College of Med
-
Kim Soo-chan
Department Of Dermatology And Cutaneous Biology Research Institute Yonsei University College Of Medi
-
Kim Moon
Department Of Dermatology And Cutaneous Biology Research Institute Yonsei University College Of Medi
-
Lee Jeong
Department Of Clothing And Textiles Gyeongsang National University
-
Kim Soo-chan
Department Of Dermatology And Cutaneous Biology Research Institute Yonsei University College Of Medi
-
Oh Se-woong
Department Of Dermatology And Cutaneous Biology Research Institute Yonsei University College Of Medi
-
Lee Jeong
Department Of Dermatology And Cutaneous Biology Research Institute Yonsei University College Of Medi
-
Lee Jeong
Department Of Animal Science And Biotechnology Kyungpook National University
-
Lee Jeong
Department Of Anesthesiology And Pain Medicine Yonsei University College Of Medicine
関連論文
- IS-84 Contraception in reproductive-aged Korean women(Group11 Women's Health2,International Session)
- In vitro and ex vivo protoporphyrin IX expression induced by 5-aminolevulinic acid in human pilosebaceous unit
- Study on the Shape Memory Polyamides. Synthesis and Thermomechanical Properties of Polycaprolactone- Polyamide Block Copolymer
- Crystal Structure of a Methine Dye, C.I. Disperse Blue 354
- Crystal Structure of N-tert-Butoxycarbonylbis(2-thioacetoxyethyl)amine
- Crystal Structure of 8-Tosyloxyquinoline
- Crystal Structure of an Anthraquinone Dye, C. I. Disperse Violet 27
- Light Scattering Induced Giant Red-Shift in Photoluminescence from CdTe Quantum Dots Encapsulated in Polyacrylamide Gel Nanospheres
- Effect of Alkoxy Substitution on Photophysical Properties of Poly(p-phenylenevinylene)
- Induction of versican by ascorbic acid 2-phosphate in dermal papilla cells
- The hair growth promoting effect of ascorbic acid 2-phosphate, a long-acting Vitamin C derivative
- クリップによる圧迫損傷術を施したラット脊髄におけるカテプシンDの免疫組織化学的研究(解剖学)
- Experimental study on a model azimuthing podded propulsor in ice
- FEM Modeling of Reactor Core for Seismic Analysis Using Super-Element(Modeling & Simulation)
- Reaction Characteristics between Cu Thin Film and RF Inductively Coupled Cl_2 Plasma without/with UV Irradiation
- Protective Immunity Against Challenge Infection with Trichinella spiralis in the Rat
- 30-P2-45 Computerized Adverse Drug Reaction (ADR) monitoring system in Kangnam St. Mary's Hospital
- Cancer screening using ^F-FDG PET/CT in Korean asymptomatic volunteers : a preliminary report
- Influence of the Microstructure on the Ultrasonic Backscattered Energy from a Liquid/Solid Interface at the Rayleigh Angle
- Anti-fibrotic Effects of a Methylenedioxybenzene Compound, CW209292 on Dimethylnitrosamine-Induced Hepatic Fibrosis in Rats
- Homogeneous Nucleation of Misfit Dislocations in Strained Layers
- Crystal Structure and B-Site Ordering in Antiferroelectric Pb(Mg_W_)O_3, Pb(Co_W_)O_3 and Pb(Yb_Nb_)O_3
- Anti-obesity Effect of Dioscorea nipponica Makino with Lipase-inhibitory Activity in Rodents(Food & Nutrition Science)
- Epitaxial Growth of GaN on LaAlO_3(100) Substrate by RF Plasma Assisted Molecular Beam Epitaxy
- Molecular Authentication of 21 Korean Artemisia Species (Compositae) by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism Based on trnL–F Region of Chloroplast DNA
- Compound heterozygosity for premature termination codon and glycine substitution mutations in the COL7A1 gene in Korean siblings with a moderately severe phenotype of recessive dystrophic epidermolysis bullosa
- Ichthyosis Bullosa of Siemens : Report of a Sporadic Case
- Design of a Mutated Adder and Its Optimization Using ILP Formulation(Digital Circuits and Computer Arithmetic, Recent Advances in Circuits and Systems-Part 1)
- Low Latency Four-Flop Synchronizer with the Handshake Interface(Communications and Wireless Systems, Recent Advances in Circuits and Systems-Part 1)
- A Low Latency Asynchronous FIFO Combining a Wave Pipeline with a Handshake Scheme(VLSI Design Technology and CAD)
- Asynchronous Multiple-Issue On-Chip Bus with In-Order/Out-of-Order Completion(Integrated Electronics)
- Differential Value Encoding for Delay Insensitive Handshake Protocol(Communications and Wireless Systems, Recent Advances in Circuits and Systems-Part 1)
- Al-Induced Crystallization of an Amorphous Si Thin Film in a Polycrystalline Al/Native SiO_2/Amorphous Si Structure
- Molecular and clinical characterization in Japanese and Korean patients with Hailey-Hailey disease : Six new mutations in the ATP2C1 gene
- Angiotensin receptor blockers are superior to angiotensin-converting enzyme inhibitors in the suppression of hepatic fibrosis in a bile duct-ligated rat model
- Novel keratin 5 mutations in epidermolysis bullosa simplex : Cases with unusual genotype-phenotype correlation
- Keratin 17 mutation in pachyonychia congenita type 2 patient with early onset steatocystoma multiplex and Hutchinson-like tooth deformity
- Microstructure and Electrical Properties of Tantalum Oxide Thin Film Prepared by Electron Cyclotron Resonance Plasma-Enhanced Chemical Vapor Deposition
- Liposome Formulations for Effective Administration of Lipophilic Malonatoplatinum(II) Complexes
- Ectopic Expression of a Foreign Aquaporin Disrupts the Natural Expression Patterns of Endogenous Aquaporin Genes and Alters Plant Responses to Different Stress Conditions
- Maternal steroid enhancement of fetal rabbit gastrointestinal motility
- Laminar Viscous Flow past a Flat Plate with Finite Thickness
- Establishment of SV40T-transformed human dermal papilla cells and identification of dihydrotestosterone-regulated genes by cDNA microarray
- URB expression in human dermal papilla cells
- Analysis of Correlation between Rectal Complications and Rectal Dose Following High Dose Rate Intracavitary Radiotherapy in Patients with Uterine Cervix Cancer:In vivo Dosimetric Analysis
- Secondary Angiosarcoma Following Irradiation-Case Report and Review of the Literature-
- Investigation of turbulent flows in a waterjet intake duct using stereoscopic PIV measurements
- Confluent and reticulated papillomatosis on the arm successfully treated with minocycline
- A Case of Mucinous Cystadenocarcinoma of the Appendix : Difficult Preoperative Differentiation from an Ovarian Tumor
- Grover's disease associated with pregnancy
- Nuchal fibroma presenting as two posterior neck masses
- Circumscribed palmar or plantar hypokeratosis : Report of a Korean case and published work review
- P3-IS-69 Comparison of Laparoscopically Assisted Vaginal Hysterectomy (LAVH) with Total Abdominal Hysterectomy (TAH)(Group93 Reproduction3,International Session)
- P3-IS-36 Clinical analysis of Non-blood transfusion treatment in patients who refused a blood transfusion for Obstetrical Part(Group89 Perinatology+Women's Health1,International Session)
- 15-27.Study on the Factor V Leiden Mutation in Pregnant Women and Relationship with Preeclampsia Severe Form (Session 17 Perinatology 6)
- 14-12.The study of comparison of first and second trimester screening for fetal anomalies (Session 15 Perinatology 4)
- Prerequisite for Photoluminescence D Line Spectra of Heat-Treated Carbon-Lean Czochralski Silicon Crystals
- Low-Temperature Crystallization of Amorphous Si Films by Metal Adsorption and Diffusion
- New Crystallization Process of LPCVD a-Si Films below 530℃ Using Metal Adsorption Method
- Erythropoietin promotes hair shaft growth in cultured human hair follicles and modulates hair growth in mice
- Identification of transcriptional targets of Wnt/β-catenin signaling in dermal papilla cells of human scalp hair follicles : EP2 is a novel transcriptional target of Wnt3a
- Novel and recurrent mutations in Keratin 5 and 14 in Korean patients with Epidermolysis bullosa simplex
- Epidermolysis Bullosa Acquisita Localized to the Face
- The Effect of Stress on Solid-Phase Epitaxial RegroWth in As^+ -Implanted Two-Dimensional Amorphized Si : Semiconductors
- Subungual Extraskeletal Chondroma Mimicking Glomus Tumor
- Effects of Annealing Conditions on the Crystallization and Grain Growth of Metastable Ge_2Sb_2Te_5
- Adenomyoma of the small intestine : Report of two cases and review of the literature
- Usefulness of a malleable penile prosthesis in patients with a spinal cord injury
- Advancement in HCC imaging : diagnosis, staging and treatment efficacy assessments : Imaging diagnosis and staging of hepatocellular carcinoma
- Marie Unna Hypotrichosis in an Asian Family
- A Case of Acinic Cell Adenocarcinoma on the Left Hemifacial Area
- Localized Surface Plasmon Polariton Enhanced Radiative Recombination in Ion-Implanted Silicon Emitters
- Tolterodine : As effective but better tolerated than oxybutynin in Asian patients with symptoms of overactive bladder
- Inhibition of ganglioside GD1a synthesis suppresses the differentiation of human mesenchymal stem cells into osteoblasts
- Observation of CuPt-Type Ordered Structure in CdZnTe during Organometallic Vapor Phase Epitaxial Growth
- Identification of a Cryptic N-Terminal Signal in Saccharomyces cerevisiae Peroxisomal Citrate Synthase That Functions in Both Peroxisomal and Mitochondrial Targeting^1
- Juvenile xanthogranuloma on the sole : Dermoscopic findings as a diagnostic clue
- Surface Morphologies of BaTiO_3 Thin Films by Atomic Force Mieroscopy
- Quantitative evaluations of a high-voltage multiscan CCD camera
- Mutational and Functional Analysis of the Cryptic N-Terminal Targeting Signal for Both Mitochondria and Peroxisomes in Yeast Peroxisomal Citrate Synthase Cit2p
- Mucous membrane pemphigoid with immunoglobulin G autoantibodies against full-length and 120-kDa ectodomain of BP180
- The comparison of ^I whole-body scans on the third and tenth day after ^I therapy in patients with well-differentiated thyroid cancer : preliminary report
- Effect of Hydroxyethyl Starch 130/0.4 on Blood Loss and Coagulation in Patients With Recent Exposure to Dual Antiplatelet Therapy Undergoing Off-Pump Coronary Artery Bypass Graft Surgery
- Association between bone mineral density and metabolic syndrome in pre- and postmenopausal women
- Determination of L-Ascorbate by Electrocatalytic Oxidation on 1, 5, 8, 12-Tetraaza-2, 4, 9, 11-tetramethylcyclotetradecinatonickel(II) Polymer Modified Glassy Carbon Electrode
- Transmission Electron Microscopy Study on the Crystallization of Sb–Se–Te Ternary Alloys
- Orbital Lymphangioma Treated by Lateral Wall Decompression and Fat Removal
- Tracing soybean domestication history : From nucleotide to genome
- Lung injury induced by the pulmonary instillation of povidone-iodine in rats
- Metabolism of Ginsenoside Rb1 by Human Intestinal Microflora and Cloning of Its Metabolizing β-D-Glucosidase from Bifidobacterium longum H-1
- Fast Myoglobin Detection Using Nanofluidic Electrokinetic Trapping Technique
- Minoxidil activates β-catenin pathway in human dermal papilla cells : A possible explanation for its anagen prolongation effect
- Microstructural Investigation of SexTe100-x Thin Films Deposited on Si(100) Substrates by X-ray Diffractometer and Transmission Electron Microscopy Analysis
- Effects of Annealing Conditions on the Crystallization and Grain Growth of Metastable Ge2Sb2Te5
- Well-Aligned Carbon Nanotubes Synthesized by Thermal Chemical Vapor Deposition of Acetylene on Cobalt Nanoparticles
- Phase Transition Behavior of Ge–Bi–Te Thin Films from an NaCl to Rhombohedral Structure
- ISP-12-3 Study of actual condition of smoking during pregnancy in 2003 and 2010(Group 12 Perinatology-3,IS Poster,International Session)
- ISP-10-4 Placental 11β-hydroxysteroid dehydrogenase type 2 mRNA expression in low birth weight newborn at birth(Group 10 Perinatology-1,IS Poster,International Session)
- A Fast Hybrid Arithmetic Unit for Elliptic Curve Cryptosystem in Galois Fields with Prime and Composite Exponents
- Transcriptional activation of CCN1 and CCN2, targets of canonical Wnt signal, by ascorbic acid 2-phosphate in human dermal papilla cells