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論文 - 一覧

  • 12 Hits
  • 検索条件 : 絞込み (MeSH = Intellectual Disability / genetics*)
生物種 リソース名 タイトル
ゼブラフィッシュ pT2ZUASRFP HeterozygousKIDINS220/ARMSnonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity
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.
ヒト・動物細胞 HCT116(RCB2979) Intellectual disability-associated gain-of-function mutations in CERT1 that encodes the ceramide transport protein CERT.
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.
ショウジョウバエ Expression of human PQBP-1 in Drosophila impairs long-term memory and induces abnormal courtship.
ショウジョウバエ Drosophila homolog of the intellectual disability-related long-chain acyl-CoA synthetase 4 is required for neuroblast proliferation.
ヒト・動物細胞 COS-7(RCB0539) A novel ZC4H2 gene mutation, K209N, in Japanese siblings with arthrogryposis multiplex congenita and intellectual disability: characterization of the K209N mutation and clinical findings.
ゼブラフィッシュ Tg(CM-isl1:GFP) The 16p11.2 homologs fam57ba and doc2a generate certain brain and body phenotypes.
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 Generation of an ICF syndrome model by efficient genome editing of human induced pluripotent stem cells using the CRISPR system.
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 D-HA (RDB02139) , pCALwL (RDB01679) A mental retardation gene, motopsin/prss12, modulates cell morphology by interaction with seizure-related gene 6.