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  • 9 Hits
  • 検索条件 : 絞込み (MeSH = Microcephaly / genetics*)
生物種 リソース名 タイトル
ヒト・動物細胞 M10(RCB0136) Functional analysis of XRCC4 mutations in reported microcephaly and growth defect patients in terms of radiosensitivity.
ヒト・動物細胞 HCT116(RCB2979) , HCT116-XRCC4(-/-)(RCB2981) XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency.
ヒト・動物細胞 P19.CL6(RCB1539) RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis.
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(HuC:Kaede) Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.
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.
ヒト・動物細胞 Ionizing radiation downregulates ASPM, a gene responsible for microcephaly in humans.
ゼブラフィッシュ Tg(chx10:GFP)/nns1 Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.
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.