| A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes. | |
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MedLine Citation:
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PMID: 19555431 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Inherited diseases of pigmentation were among the first traits studied in humans because of their easy recognition. The discovery of genes that regulate melanocytic development and function and the identification of disease-causative mutations have greatly improved our understanding of the molecular basis of pigmentary genodermatoses and their underlying pathogenetic mechanisms. Pigmentation mutants can account for hypo-/amelanosis, with or without altered melanocyte number, resulting in different phenotypes, such as Waardenburg syndrome, piebaldism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, oculocutaneous albinism and Griscelli syndrome. In this review, we summarize the basic concepts of melanocyte biology and discuss how molecular defects in melanocyte development and function can result in the development of hypopigmentary hereditary skin diseases. |
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Authors:
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Clio Dessinioti; Alexander J Stratigos; Dimitris Rigopoulos; Andreas D Katsambas |
Publication Detail:
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Type: Journal Article; Review Date: 2009-06-23 |
Journal Detail:
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Title: Experimental dermatology Volume: 18 ISSN: 1600-0625 ISO Abbreviation: Exp. Dermatol. Publication Date: 2009 Sep |
Date Detail:
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Created Date: 2009-08-21 Completed Date: 2009-12-28 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9301549 Medline TA: Exp Dermatol Country: Denmark |
Other Details:
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Languages: eng Pagination: 741-9 Citation Subset: IM |
Affiliation:
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Department of Dermatology, A. Sygros Hospital, University of Athens, Athens, Greece. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Humans Hypopigmentation / genetics* Keratinocytes / physiology Melanins / biosynthesis Melanocytes / physiology* |
| Chemical | |
Reg. No./Substance:
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0/Melanins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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