Results 181 to 190 of about 1,627,653 (237)
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Genetic Counseling for Skin Diseases
Dermatology, 1983A 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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Genetic skin diseases predisposing to basal cell carcinoma
European Journal of Dermatology, 2012Basal cell carcinoma (BCC) is the commonest cancer in humans. Predisposing factors reflect common genetic variations and environmental influences in most cases. However, an underlying Mendelian disorder should be suspected in a specific subset of patients, namely those with multiple, early onset lesions.
CASTORI, MARCO +3 more
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Preimplantation genetic diagnosis of severe inherited skin diseases
Experimental Dermatology, 1998Abstract: Considerable progress has been made recently in elucidating the molecular pathology underlying several forms of inherited skin diseases. One of the most immediate benefits of these discoveries has been the development of DNA‐based prenatal diagnosis in pregnancies at risk for recurrence of a particular disorder.
J A, McGrath, A H, Handyside
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Advances in gene therapy and their application to skin diseases: A review.
Journal of dermatological science (Amsterdam), 2021With recent advances in genetic engineering technology, gene therapy is now being considered as a treatment not only for congenital diseases but also acquired diseases, such as cancer. Gene therapeutic agents for hereditary immune disorders, haemophilia,
S. Shinkuma
semanticscholar +1 more source
Therapies for genetic extracellular matrix diseases of the skin.
Matrix Biology, 2017A specialized, highly developed dermal extracellular matrix (ECM) provides the skin with its unique mechano-resilient properties and is vital for organ function.
A. Nyström, R. Bernasconi, O. Bornert
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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 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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Skin diseases associated with atopic dermatitis.
Clinical Dermatology, 2018Atopic dermatitis is a common chronic pruritic inflammatory skin disorder, characterized by an abnormal skin barrier, immune dysfunction, and an altered skin microbiome.
Justine Fenner, N. Silverberg
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Gaucher's Disease: A Genetic Disease Detected in Skin Fibroblast Cultures
Science, 1968Skin fibroblasts from three adult patients with chronic noncerebral Gaucher's disease, three children of one of the patients, three parents, and six normal individuals were grown in cell culture. Giant fibroblasts containing metachromatic material were seen in all cultures derived from affected individuals and heterozygous carriers but not in those ...
B S, Danes, A G, Bearn
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Genetic Skin Diseases With Neoplasia
2007The relationship between the molecular defects and cutaneous neoplasia in several genetic syndromes illustrates the key role played by a variety of proteins in cell growth, proliferation, and the repair of acquired genetic damage.
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