Alan Irvine, Our Lady's Hospital for Sick Children, Dublin, Ireland
Published online: January 2006
DOI: 10.1038/npg.els.0006103
Hair formation is a complex molecular process, and abnormal hair is a feature of many genetic disorders. There is increasing understanding of the molecular basis of several single-gene disorders with hair loss, although the genetic basis for the commonest forms of hair loss is not well understood.
Keywords: skin disorder; genodermatoses; epidermis; dermis; dermatology
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| Further Reading | |
| book Freire-Maria N and Pinheiro M (1985) Ectodermal Dysplasias. New York, NY: AR Liss Incorporated. | |
| Hardy MH (1992) The secret life of the hair follicle. Trends in Genetics 8: 55–61. | |
| Irvine AD and Christiano AM (2001) Hair on a gene string: recent advances in understanding the molecular genetics of hair loss. Clinical and Experimental Dermatology 26: 59–71. | |
| Irvine AD and McLean WH (1999) Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype–genotype correlation. British Journal of Dermatology 140: 815–828. | |
| Kaufman CK and Fuchs E (2000) Its got you covered. NF-B in the epidermis. Journal of Cell Biology 149: 999–1004. | |
| Monreal AW, Ferguson BM, Headon DJ, et al. (1999) Mutations in the human homolog of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. Nature Genetics 22: 366–369. | |
| Oro AE and Scott MP (1998) Splitting hairs: dissecting roles of signaling systems in epidermal development. Cell 95: 575–578. | |
| Price JA, Bowden DW, Wright JT, Pettenati MJ and Hart TC (1998) Identification of a mutation in DLX3 associated with tricho-dento-osseous (TDO) syndrome. Human Molecular Genetics 7: 563–569. | |
| Priolo M and Lagana C (2001) Ectodermal dysplasias: a new clinical–genetic classification. Journal of Medical Genetics 38: 579–585. | |
| Richard G (2000) Connexins: a connection with the skin. Experimental Dermatology 9: 77–96. | |
| Stenn KS and Paus R (2001) Controls of hair follicle cycling. Physiological Reviews 81: 449–494. | |
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| Zonana J, Elder ME, Schneider LC, et al. (2000) A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). American Journal of Human Genetics 67: 1555–1562. | |
| Web Links | |
| ePath ATP7A (ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome)); Locus ID: 538. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=538 | |
| ePath EDAR (ectodysplasin 1, anhidrotic receptor); Locus ID: 10913. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=10913 | |
| ePath GJB6 (gap junction protein, beta 6 (connexin 30)); Locus ID: 10804. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=10804 | |
| ePath JUP (junction plakoglobin); Locus ID: 3728. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=3728 | |
| ePath ATP7A (ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome)); MIM number: 300011. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?300011 | |
| ePath EDAR (ectodysplasin 1, anhidrotic receptor); MIM number: 604095. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?604095 | |
| ePath GJB6 (gap junction protein, beta 6 (connexin 30)); MIM number: 604418. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?604418 | |
| ePath JUP (junction plakoglobin); MIM number: 173325. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?173325 | |
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