Erythrocyte dematin is a candidate gene for Marie Unna hereditary hypotrichosis and related hairloss disorders.
Erythrocyte dematin is a candidate gene for Marie Unna hereditary hypotrichosis and related hairloss disorders.
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红细胞脱蛋白是 Marie Unna 遗传性少毛症和相关脱发性疾病的候选基因。
DOI：
10.1002/ajh.21153
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发表时间：
2008
影响因子：
12.8
通讯作者：
Chishti,AtharH
中科院分区：
文献类型：
--
作者：
Mohseni,Morvarid;Chishti,AtharH
Whether or not a mutation of the dematin gene is responsible for the MUHH-associated hair-loss phenotype in humans is not known. However, systemic deletion of the dematin headpiece domain in mice results in a profound hairloss phenotype that may be due to loss of function of dematin in the dermis. Anemia induced alopecia is a widely known phenomenon and is thought to be a consequence of the iron deficiency leading to defective DNA synthesis [15]. However, since these HPKO mice suffer from a very mild form of anemia, it is unlikely that the hairloss phenotype observed is a consequence of iron deficiency. The proximity of the dematin gene to the HR gene, its location within a broadly defined MUHH locus, and the phenotypic evidence of hair-loss in HPKO mice suggest that screening for mutations of EPB49 may be of interest in patients exhibiting hair-loss of unknown origin.
