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Molecular advances in genetic skin diseases
Current Opinion in Pediatrics, 2002The genes for several genetic skin diseases have been identified in recent years. This development improves diagnostic capabilities and genetic counseling, and investigators can now turn to the molecular mechanisms involved in the pathogenesis of these diseases.
Dawn H, Siegel, Renee, Howard
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What’s New in Genetic Skin Diseases
Dermatologic Clinics, 2019The discoveries of new genes underlying genetic skin diseases have occurred at a rapid pace, supported by advances in DNA sequencing technologies. These discoveries have translated to an improved understanding of disease mechanisms at a molecular level and identified new therapeutic options based on molecular targets. This article highlights just a few
Callie R, Hill, Amy, Theos
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Current Opinion in Pediatrics, 1994
Recent advances in molecular genetics have led to major breakthroughs in the understanding of two heterogeneous groups of inherited skin diseases, epidermolysis bullosa and the ichthyoses. Mutations in keratins K5 or K14 are found in epidermolysis bullosa simplex.
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Recent advances in molecular genetics have led to major breakthroughs in the understanding of two heterogeneous groups of inherited skin diseases, epidermolysis bullosa and the ichthyoses. Mutations in keratins K5 or K14 are found in epidermolysis bullosa simplex.
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The genetics of human skin diseases
Current Opinion in Genetics & Development, 1996Molecular genetic analyses during the past half-decade have brought unexpected insights into the molecular defects underlying a wide variety of abnormal skin phenotypes. Highlights of the efforts in the past year include the identification of mutations in an epidermal transglutaminase gene in lamellar ichthyosis as well as mutations in an additional ...
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Genetic Counseling for Skin Diseases
Dermatologica, 2009A statistical study was carried out on 182 cases who seeked out genetic counseling about skin diseases. The size of the latent demand for the counseling was assessed to be as much as 3.0% of the outpatients. Most clients were in their twenties. A representative consultand was the patient’s child or sibling.
Isao Hashimoto +8 more
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Desmosomes and corneodesmosomes and their relevance to genetic skin diseases
Italian Journal of Dermatology and Venereology, 2017Desmosomes are critical intercellular junctions between keratinocytes in the living cell layers of the epidermis. When the cells are differentiated and become cornified cells, desmosomes are transformed into corneodesmosomes. Distribution patterns of corneodesmosomes change with cell development.
Akemi, Ishida-Yamamoto +2 more
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Therapies for genetic extracellular matrix diseases of the skin
Matrix Biology, 2018A specialized, highly developed dermal extracellular matrix (ECM) provides the skin with its unique mechano-resilient properties and is vital for organ function. Accordingly, genetically acquired deficiency of dermal ECM proteins or proteins essential for the post-translational modification and homeostasis of the dermal ECM, results in diseases ...
Nyström, Alexander +2 more
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Genetic Skin Diseases With Altered Aging
Archives of Dermatology, 1997Integration, homeostasis, and redundancy of function are hallmarks of important biological processes. Individual gene defects may overcome and override normal homeostatic systems and lead to dramatic, recognizable phenotypes by profoundly altering 1 or more physiological systems.
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