Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0022716 (Menkes)
 1,057 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Connective tissue disorders affecting skin can be inherited or acquired and might result from an alteration of structure, function or metabolism of the constitutive elements of the supporting matrix. Collagen, the protein building the fibrous framework of the dermis, is considered as an example in understanding such a pathology at the molecular level. The molecular structure, the polymerizing capacity and the degradation of this large protein depends upon the activity of several specific post-transcriptional enzymes operating inside or outside of the cells. Pathology is known to be associated with an altered activity of most of these enzymes. Several pathological skin conditions are defined at the level of their molecular defect as in several types of the Ehlers-Danlos syndrome, osteogenesis imperfecta. Menkes' kinky hair disease, epidermolysis bullosa and scurvy. A similar molecular pathogenesis can be logically hypothesized for various other processes involving connective tissue as in scleroderma, pretibial myxoedema, cheloids, Werner syndrome, aging and corticosteroid induced atrophy.
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PMID:[Connective tissue diseases with cutaneous manifestation (author's transl)]. 75 6

The homeostasis of all self-renewing tissues is dependent on adult stem cells. As undifferentiated stem cells undergo asymmetric divisions, they generate daughter cells that retain the stem cell phenotype and transit-amplifying cells (TA cells) that migrate from the stem cell niche, undergo rapid proliferation and terminally differentiate to repopulate the tissue. Epithelial stem cells have been identified in the epidermis, hair follicle, and intestine as cells with a high in vitro proliferative potential and as slow-cycling label-retaining cells in vivo (1-3). Adult, tissue-specific stem cells are responsible for the regeneration of the tissues in which they reside during normal physiologic turnover as well as during times of stress (4-5). Moreover, stem cells are generally considered to be multi-potent, possessing the capacity to give rise to multiple cell types within the tissue (6). For example, rodent hair follicle stem cells can generate epidermis, sebaceous glands, and hair follicles (7-9). We have shown that stem cells from the human hair follicle bulge region exhibit multi-potentiality (10). Stem cells have become a valuable tool in biomedical research, due to their utility as an in vitro system for studying developmental biology, differentiation, tumorigenesis and for their possible therapeutic utility. It is likely that adult epithelial stem cells will be useful in the treatment of diseases such as ectodermal dysplasias, monilethrix, Netherton syndrome, Menkes disease, hereditary epidermolysis bullosa and alopecias (11-13). Additionally, other skin problems such as burn wounds, chronic wounds and ulcers will benefit from stem cell related therapies (14,15). Given the potential for reprogramming of adult cells into a pluripotent state (iPS cells)(16,17), the readily accessible and expandable adult stem cells in human skin may provide a valuable source of cells for induction and downstream therapy for a wide range of disease including diabetes and Parkinson's disease.
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PMID:Isolation and culture of adult epithelial stem cells from human skin. 2149 May 79

It is likely that adult epithelial stem cells will be useful in the treatment of diseases, such as ectodermal dysplasias, monilethrix, Netherton syndrome, Menkes disease, hereditary epidermolysis bullosa, and alopecias. Additionally, other skin problems such as burn wounds, chronic wounds, and ulcers will benefit from stem cell-related therapies. However, there are many questions that need to be answered before this goal can be realized. The most important of these questions is what regulates the adhesion of stem cells to the niche versus migration to the site of injury. We have started to identify the mechanisms involved in this decision-making process.
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PMID:Epithelial stem cells. 2161 97