Reference - RRC(Research Resource Circulation)

Species	Resource	RRC ID	Title	Journal	Published	Link
Drosophila	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
Human and Animal Cells	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
Drosophila	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
Human and Animal Cells	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
Zebrafish	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
Drosophila	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

Reference - List