• 6 Hits
  • 検索条件 : 絞込み (MeSH = Intellectual Disability / metabolism)
生物種 リソース名 タイトル
ショウジョウバエ DGRC#205260 TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
ショウジョウバエ 31935R-3 The Warburg Micro Syndrome-associated Rab3GAP-Rab18 module promotes autolysosome maturation through the Vps34 Complex I.
ゼブラフィッシュ Tg(EF1α:mKO2-zCdt1(1/190)) , Tg(EF1α:mAG-hGem(1/60)) Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control.
実験動物マウス RBRC01345 De novo inbred heterozygous Zeb2/Sip1 mutant mice uniquely generated by germ-line conditional knockout exhibit craniofacial, callosal and behavioral defects associated with Mowat-Wilson syndrome.
遺伝子材料 Genome Network Project Clone IRAL038I16 (HGY095408) Cereblon is recruited to aggresome and shows cytoprotective effect against ubiquitin-proteasome system dysfunction.
ショウジョウバエ 12153R-1 Intellectual disability-associated dBRWD3 regulates gene expression through inhibition of HIRA/YEM-mediated chromatin deposition of histone H3.3.