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1. 遺伝性皮膚症 the genodermatoses
2. 色素失調症 incontinentia pigmenti
3. 小児の不明熱に対するアプローチ fever of unknown origin in children evaluation
4. 染色体モザイク（伊藤白斑） pigmentary mosaicism hypomelanosis of ito
5. 原発性免疫不全症のための造血細胞移植 hematopoietic cell transplantation for primary immunodeficiency

English Journal

Happle R1.
American journal of medical genetics. Part A.Am J Med Genet A.2016 Feb;170(2):452-9. doi: 10.1002/ajmg.a.37439. Epub 2015 Oct 22.
Mosaic disorders can most easily be studied in the skin. This article presents a comprehensive overview of the different forms of cutaneous mosaicism. Major categories are genomic versus epigenetic mosaicism and nonsegmental versus segmental mosaicism. The class of nonsegmental mosaics includes sing
PMID 26494396

Effect of an EDA-A1 gene mutant on the proliferation and cell cycle distribution of cultured human umbilical vein endothelial cells.

Lei KE1, Wang L1, Ma B2, Shi P2, Li L3, Che T4, He X5.
Experimental and therapeutic medicine.Exp Ther Med.2016 Feb;11(2):535-539. Epub 2015 Dec 18.
Ectodysplasin (EDA) gene mutation is associated with hypohidrotic ectodermal dysplasia (HED). The aim of this study was to investigate the effect of ectodysplasin, transcript variant 1 (EDA-A1) on the proliferation and cell cycle of ECV304 human umbilical vein endothelial cells (HUVECs). Recombinant
PMID 26893642

Trzeciak WH1, Koczorowski R2.
Journal of applied genetics.J Appl Genet.2016 Feb;57(1):51-61. doi: 10.1007/s13353-015-0307-4. Epub 2015 Aug 21.
Recent advances in understanding the molecular events underlying hypohidrotic ectodermal dysplasia (HED) caused by mutations of the genes encoding proteins of the tumor necrosis factor α (TNFα)-related signaling pathway have been presented. These proteins are involved in signal transduction from e
PMID 26294279