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Autor:
Susanne Latzko, Silvia de Juanes, Peter Krieg, Nikolas Epp, Gerhard Fürstenberger, Hans-Jürgen Stark, Mareen Neumann, Ingrid Hausser
Publikováno v:
Journal of Investigative Dermatology. (6):1429-1436
12R-lipoxygenase (12R-LOX) represents a key enzyme of a recently identified eicosanoid pathway in the skin that plays an essential role in the establishment and/or maintenance of the epidermal barrier function. Genetic studies show that loss-of-funct
Autor:
Jack Heath, A.K. Langton, Denis J. Headon, Nigel L. Hammond, Paul A. Overbeek, Michael J. Dixon
Publikováno v:
Journal of Investigative Dermatology. (10):2358-2364
The hair follicles and the interfollicular epidermis of intact mature skin are maintained by distinct stem cell populations. Upon wounding, however, emigration of hair follicle keratinocytes to the interfollicular epidermis plays a role in acute stag
Autor:
Christiane Kuschal, John J. DiGiovanna, E. Heller, Deborah Tamura, Kenneth H. Kraemer, Sikandar G. Khan
Publikováno v:
The Journal of investigative dermatology
Trichothiodystrophy (TTD) is a rare multisystem disorder, characterized by sulfur-deficient hair with alternating dark and light "tiger tail" banding on polarized light microscopy. TTD is caused by mutations in DNA repair/transcription genes XPD, XPB
Autor:
Robert Graham, Tara Hill, Eamonn Sheridan, Thomas Cullup, Elizabeth E. Norgett, Anna C. Thomas, Lakshmi Mehta, Rosemarie Watson, Helen Goodyear, Charles A. Mein, Madelena Martin, Celia D. DeLozier, Edel A. O'Toole, Anne Slavotinek, Aileen E. Taylor, David Bourn, Karen Stephens, Stephanie Barton, Nigel Burrows, Eli Sprecher, Beverly A. Dale, Roni Wolf, David P. Kelsell, Robert S. Wilroy, Philip Fleckman
Publikováno v:
Journal of Investigative Dermatology. (11):2408-2413
Harlequin ichthyosis (HI) is the most severe form of autosomal-recessive, congenital ichthyosis. Affected infants have markedly impaired barrier function and are more susceptible to infection. Abnormalities in the localization of epidermal lipids as
Autor:
Jean-Paul Ortonne, A. Charlesworth, Keith E. Linder, John D. Baird, Flavia Spirito, Guerrino Meneguzzi
Publikováno v:
Journal of Investigative Dermatology. (3):684-691
Recent achievements in the genetic correction of keratinocytes isolated from patients with junctional epidermolysis bullosa have paved the way to a gene therapy approach for the disease. Because gene therapy protocols require preclinical validation i
Publikováno v:
Journal of Investigative Dermatology. (5):1029-1034
Dorfman-Chanarin syndrome is a rare autosomal recessive inherited lipid storage disease characterized by ichthyosis, leukocyte lipid vacuoles, and involvement of several internal organs. Recently, CGI-58 mutations were identified as the cause of Dorf
Publikováno v:
Journal of Investigative Dermatology. (6):1361-1366
Mutations in the mitochondrial genome (mtDNA) are thought to be one of the causes of age-dependent cellular decline through their detrimental effects on respiration or reactive oxygen species (ROS) production. However, for many mutations, this link h
Autor:
Fredrik Wagberg, Jean Pierre Hachem, Debra Crumrine, Diane Roseeuw, Peter M. Elias, Torbjörn Egelrud, Willy Lissens, Kenneth R. Feingold, Göran Leonardsson, Theodora M. Mauro, Gary L. Clayman, Matthias Schmuth, Maria Brattsand, Evi Houben, Arumugam Jayakumar, Mary L. Williams
Publikováno v:
Journal of Investigative Dermatology. (7):1609-1621
Mutations in the SPINK5 gene encoding the serine protease (SP) inhibitor, lymphoepithelial-Kazal-type 5 inhibitor (LEKTI), cause Netherton syndrome (NS), a life-threatening disease, owing to proteolysis of the stratum corneum (SC). We assessed here t
Autor:
Ana Terron-Kwiatkowski, Michel van Geel, W.H. Irwin McLean, Peter M. Steijlen, Maurice A.M. van Steensel, E. Birgitte Lane
Publikováno v:
Journal of Investigative Dermatology. (3):607-613
Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant genodermatosis characterized by epidermolytic hyperkeratosis restricted to the palm and sole epidermis. The disorder is normally associated with dominant-negative mutations in the
Autor:
Julio C. Salas-Alanis, Robin A.J. Eady, Jemima E. Mellerio, John A. McGrath, J. R. Mcmillan, G H S Ashton, Ole Swensson
Publikováno v:
Journal of Investigative Dermatology. (3):314-321
Non-sense mutations on both alleles of either the type VII collagen gene (COL7A1) or the genes encoding laminin 5 (LAMA3, LAMB3, or LAMC2) usually result in clinically severe forms of recessive dystrophic or junctional epidermolysis bullosa, respecti