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6 Hits
検索条件 : 絞込み (MeSH = Intellectual Disability / metabolism)
生物種
リソース名
RRC ID
タイトル
ジャーナル
公開日
外部リンク
ショウジョウバエ
DGRC#205260
70732
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
Am J Hum Genet
2021-9-2
Pubmed
Full text
ショウジョウバエ
31935R-3
60813
The Warburg Micro Syndrome-associated Rab3GAP-Rab18 module promotes autolysosome maturation through the Vps34 Complex I.
FEBS J
2021-1-1
Pubmed
Full text
ゼブラフィッシュ
Tg(EF1α:mKO2-zCdt1(1/190))
,
Tg(EF1α:mAG-hGem(1/60))
51252
Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control.
Nat Genet
2017-11-1
Pubmed
Full text
実験動物マウス
RBRC01345
34774
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.
Hum Mol Genet
2015-11-15
Pubmed
Full text
遺伝子材料
Genome Network Project Clone IRAL038I16 (HGY095408)
34525
Cereblon is recruited to aggresome and shows cytoprotective effect against ubiquitin-proteasome system dysfunction.
Biochem Biophys Res Commun
2015-9-4
Pubmed
Full text
ショウジョウバエ
12153R-1
33239
Intellectual disability-associated dBRWD3 regulates gene expression through inhibition of HIRA/YEM-mediated chromatin deposition of histone H3.3.
EMBO Rep
2015-4-1
Pubmed
Full text