- 発汗低下の
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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
- The categories of cutaneous mosaicism: A proposed classification.
- 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
- Molecular basis of hypohidrotic ectodermal dysplasia: an update.
- 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
Japanese Journal
- 温浸水負荷による手掌 wrinkling が片側性に欠如した Ross 症候群例
- 自律神経 = The Autonomic nervous system 50(1), 53-57, 2013-03-15
- NAID 10031163541
- 有汗性外胚葉異形成症患者に発生した両側上顎洞部含歯性嚢胞の1例
- 日本口腔外科学会雑誌 59(11), 699-703, 2013
- NAID 130004793864
- Immunolocalization of aquaporin-5 in normal human skin and hypohidrotic skin diseases
- Journal of dermatology 39(4), 344-349, 2012-04-01
- NAID 10031184905
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★リンクテーブル★
| リンク元 | 「発汗低下」 |
| 拡張検索 | 「autosomal recessive hypohidrotic ectodermal dysplasia」「hypohidrotic ectodermal dysplasia」 |