Results 41 to 50 of about 305,683 (163)

Genetic skin diseases related to desmosomes and corneodesmosomes

Journal of Dermatological Science, 2014
The integrity of the epidermis depends on the cohesion between keratinocytes, and desmosomes are the main adhesion structures. When cells become cornified, desmosomes are modified and transformed into corneodesmosomes. Mutations in the genes encoding desmosomal components underlie several skin diseases including palmoplantar keratoderma and forms of ...
Ishida-Yamamoto, Akemi, Igawa, Satomi
openaire   +3 more sources

Experimental models of dermatological diseases

Бюллетень сибирской медицины, 2019
This review presents analysis of experimental models of atopic dermatitis, psoriasis, skin symptoms of autoimmune systemic connective tissue diseases, and blistering skin diseases.
O. N. Sergeeva, M. B. Aksenenko, Yu. F. Fefelova, E. Yu. Sergeeva, T. G. Ruksha   +4 more
doaj   +1 more source

Discovery in Genetic Skin Disease: The Impact of High Throughput Genetic Technologies [PDF]

Genes, 2014
The last decade has seen considerable advances in our understanding of the genetic basis of skin disease, as a consequence of high throughput sequencing technologies including next generation sequencing and whole exome sequencing. We have now determined the genes underlying several monogenic diseases, such as harlequin ichthyosis, Olmsted syndrome, and
Maruthappu, T, Scott, CA, Kelsell, DP
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Genetics and Omics Analysis of Autoimmune Skin Blistering Diseases

Frontiers in Immunology, 2019
Autoimmune blistering diseases (AIBDs) of the skin are characterized by autoantibodies against different intra-/extracellular structures within the epidermis and at the basement membrane zone (BMZ). Binding of the antibodies to their target antigen leads
Michael Olbrich, Michael Olbrich, Axel Künstner, Axel Künstner, Mareike Witte, Hauke Busch, Hauke Busch, Anke Fähnrich, Anke Fähnrich   +8 more
doaj   +1 more source

Topical Gentamicin for the Treatment of Genetic Skin Diseases [PDF]

Journal of Investigative Dermatology, 2018
Clinical application of topical gentamicin is a worthwhile option to investigate further for Nagashima-type palmoplantar keratosis and other genetic skin diseases caused by nonsense mutations. It is especially interesting to study gentamicin 1B because it may be more efficacious than other gentamicin components.
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Gene therapy and its application in dermatology

Indian Journal of Dermatology, 2020
Gene therapy is an experimental technique to treat genetic diseases. It is based on the introduction of nucleic acid with the help of a vector, into a diseased cell or tissue, to correct the gene expression and thus prevent, halt, or reverse a ...
Tanusree Sarkar, Somenath Sarkar, Dwijendra Nath Gangopadhyay   +2 more
doaj   +1 more source

A New Way to Classify Genetic Skin Disease [PDF]

Journal of Investigative Dermatology, 2009
Genetic disorders with skin manifestations often affect other organs as well, and diseases with a similar array of features might be linked pathogenetically. Classifying disorders by individual phenotypic components may reveal clusters with a common genetic cause and elucidate pathogenic links.
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Multiple skin neoplasms in subjects under 40 years of age in Goiania, Brazil

Revista de Saúde Pública, 2015
OBJECTIVE To describe the trend for malignant skin neoplasms in subjects under 40 years of age in a region with high ultraviolet radiation indices.METHODS A descriptive epidemiological study on melanoma and nonmelanoma skin cancers that was conducted in ...
Samir Pereira, Maria Paula Curado, Ana Maria Quinteiro Ribeiro   +2 more
doaj   +1 more source

Genetically Modified Skin to Treat Disease: Potential and Limitations.

Journal of Investigative Dermatology, 1994
Molecular definition of disease at the level of the gene and advances in recombinant DNA technology suggest that many diseases are amenable to correction by genes not bearing the defective elements that result in disease. Many questions must be answered before this therapy can be used to correct chronic diseases.
Krueger, G G, Morgan, J R, Jorgensen, C M, Schmidt, L., Li, H L, Kwan, M K, Boyce, S T, Wiley, H S, Kaplan, J., Petersen, M J   +9 more
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Molecular Genetic Approaches to Skin Disease: Keratins and Keratinisation

Journal of the Royal College of Physicians of London, 1997
Contains fulltext : 24433___.PDF (Publisher’s version ) (Open Access)
Steensel, M.A.M. van, Steijlen, P.M., Rees, J.L.   +2 more
openaire   +4 more sources