Results 221 to 230 of about 317,567 (261)

Of mice and men: Genetic skin diseases of keratin

Cell, 1992
Elaine 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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Genetic Epidemiologic Studies in the Etiology of Skin Diseases.

Journal of Investigative Dermatology, 1994
Genetic 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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Gaucher's Disease: A Genetic Disease Detected in Skin Fibroblast Cultures

Science, 1968
Skin 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 Basis of Autoinflammatory Skin Diseases. Part I. Genetic Pathways of Complex Autoinflammatory Skin Diseases

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, Rachel, Lin, Scott A, Elman, David, Alvarez Cespedes, Willa, Thorson, Andrea, Maderal   +5 more
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Bodies in Skin: A philosophical and Theological Approach to Genetic Skin Diseases

Journal of Religion and Health, 2009
This 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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Genetic Skin Diseases With Neoplasia

2007
The 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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Systemic Therapy for a Genetic Skin Disease

New England Journal of Medicine, 2010
With 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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Genetic Diseases of the Skin

Plastic and Reconstructive Surgery, 1981
V. M. Der Kaloustian, A. K. Kurban, William C. Trier   +2 more
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Genetic or ereditary diseases of the skin

2010
In recent years the identification of mutations and analysis of polymorphisms within the canine genome has been made possible by the introduction of new molecular techniques. The study of alterations in DNA has allowed to better define the correct pathogenesis of mono or multifactorial diseases.
Zanna G, ABRAMO, FRANCESCA
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Genetic testing in prostate cancer management: Considerations informing primary care

Ca-A Cancer Journal for Clinicians, 2022
Todd M Morgan, Mary-Ellen Taplin, Veda N Giri   +2 more
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