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6 Hits
検索条件 : 絞込み (MeSH = Intellectual Disability / pathology)
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
ヒト・動物細胞
HCT116(RCB2979)
63230
Intellectual disability-associated gain-of-function mutations in CERT1 that encodes the ceramide transport protein CERT.
PLoS One
2020-1-1
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
ヒト・動物細胞
COS-7(RCB0539)
53994
A novel ZC4H2 gene mutation, K209N, in Japanese siblings with arthrogryposis multiplex congenita and intellectual disability: characterization of the K209N mutation and clinical findings.
Brain Dev
2018-10-1
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
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