Results 121 to 130 of about 305,683 (163)
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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 Epidemiologic Studies in the Etiology of Skin Diseases.
Journal of Investigative Dermatology, 1994Genetic epidemiologic studies have provided critical insights into the etiology of both rare and common skin diseases. Designs for these studies are distinct from those generally employed in epidemiologic studies. Here, we review the types of data collected for various genetic epidemiologic designs, inherent strengths and weaknesses, and their ...
C I, Amos, S J, Bale
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Of mice and men: Genetic skin diseases of keratin
Cell, 1992Elaine Fuchs and Pierre A. Coulombe’ Howard Hughes Medical Institute Department of Molecular Genetics and Cell Biology The University of Chicago Chicago, Illinois 60637 The epidermis provides a protective interface between the body and the chemical and physical traumas of the envi- ronment.
E, Fuchs, P A, Coulombe
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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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Journal of the American Academy of Dermatology
This continuing medical education article provides a comprehensive review of the genetic underpinnings of complex autoinflammatory skin diseases, with a focus on neutrophilic dermatoses, autoinflammatory syndromes, and certain vasculitides. Genetic mutations play a critical role in both the diagnosis and management of these conditions, making a ...
Olivia M, Burke +5 more
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This continuing medical education article provides a comprehensive review of the genetic underpinnings of complex autoinflammatory skin diseases, with a focus on neutrophilic dermatoses, autoinflammatory syndromes, and certain vasculitides. Genetic mutations play a critical role in both the diagnosis and management of these conditions, making a ...
Olivia M, Burke +5 more
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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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Bodies in Skin: A philosophical and Theological Approach to Genetic Skin Diseases
Journal of Religion and Health, 2009This contribution evolved from my work in a European network and is dedicated to the rare genetic skin diseases. To gain a deeper knowledge about the question, what it means to suffer from a genetic skin disease, I have discussed the concepts of skin in philosophical and theological anthropology. Presuming that ancient interpretations of skin diseases (
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Systemic Therapy for a Genetic Skin Disease
New England Journal of Medicine, 2010With an area of almost 2 m2, the human skin forms a large physical barrier between the organism and the environment. Diseases of the skin can have a severely negative effect on the quality and length of life of the persons affected. Although effective treatments have been devised for common skin diseases, curative therapies do not exist for genetic ...
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