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  • 検索条件 : 絞込み (MeSH = Intellectual Disability / genetics)
生物種 リソース名 タイトル
線虫 tm1046 , tm1515 O-GlcNAc transferase OGT-1 and the ubiquitin ligase EEL-1 modulate seizure susceptibility in C. elegans.
実験動物マウス RBRC03654 Early 17β-estradiol treatment reduces seizures but not abnormal behaviour in mice with expanded polyalanine tracts in the Aristaless related homeobox gene (ARX).
ヒト・動物細胞 HCT116(RCB2979) Intellectual-disability-associated mutations in the ceramide transport protein gene CERT1 lead to aberrant function and subcellular distribution.
ゼブラフィッシュ Tol-056 De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
線虫 tm5221 , tm5790 , tm4876 Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.
ショウジョウバエ Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
遺伝子材料 pCAG-Myc-mG alpha i2 (RDB15368) , pCAG-Myc-mG alpha i1 (RDB15369) , pCAG-Myc-mG alpha i3 (RDB15370) , pCAG-Myc-mG alpha o1 (RDB15371). Role of a heterotrimeric G-protein, Gi2, in the corticogenesis: possible involvement in periventricular nodular heterotopia and intellectual disability.
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.
ゼブラフィッシュ T2KSAG? Expression of H-RASV12 in a zebrafish model of Costello syndrome causes cellular senescence in adult proliferating cells.