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4983 OPHN1

4983

OPHN1

oligophrenin 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition oligophrenin 1

研究结论

Date Results Publications
2017-09-30 11:58:00 Here, we report that chronic treatment in adult mouse with Fasudil, is able to counteract vertical and horizontal hyperactivities, restores recognition memory and limits the brain ventricular dilatation observed in Ophn1(-)(/y) However, deficits in working and spatial memories are partially or not rescued by the treatment 27146843
2017-07-29 12:44:00 Furthermore, we found that olfactory behaviour was perturbed in OPHN1 ko mice. Chronic treatment with a Rho kinase inhibitor rescued most of the defects of the newly generated neurons. Altogether, our data indicated that OPHN1 plays a key role in regulating the number, morphology and function of adult-born inhibitory interneurons and contributed to identify potential therapeutic targets. 27742778
2017-02-18 12:18:00 we reported on the first male patient carrying an OPHN1 mutation with IQ score within the normal limits. This observation expands the phenotypic spectrum of OPHN1 mutations. 27390894
2016-09-10 10:44:00 A neuronal stem cell-based model for the treatment of OPHN1 syndrome and other neurological disorders due to ROCK dysfunction. 27160703
2015-07-25 10:06:00 results suggest that oligophrenin-1 is involved in tumor progression in prostate cancer 25170626

名称对应

Type IDs
Synonymous ARHGAP41, MRX60, OPN1
Gene
UniProtKB-ID: OPHN1_HUMAN
UniprotKB: O60890
UniParc: UPI000003319E, UPI00001D6EFC
EMBL: AJ248248, AL672138, AJ248262, AJ248256, AJ248257, AJ248250, AJ248253, AJ248260, AJ248266, AJ248263, AJ248246, AJ248249, AJ248267, AB102656, AJ248259, AJ248251, AJ248261, AJ248254, BC140763, AJ248245, BC059393, AJ001189, AJ248265, AL158201, AJ248264, Z82203, AJ248252, AJ248247, AJ248258, AL157700, AJ248255
Ensembl: ENSG00000079482
KO: hsa:4983
Nucleutide sequences
EMBL-CDS: CAA04579.1, AAI40764.1, CAI42695.1, CAI40982.1, BAC81125.1, CAB96181.1, AAH59393.1, CAD18899.2, CAI41508.1
Ensembl_TRS: ENST00000355520
Protein sequencees
Ensembl_PRO: ENSP00000347710
RefSeq: XP_005262327.1, XP_006724716.1, XP_011529263.1, XP_016885044.1, NP_002538.1
Others
UniRef100: UniRef100_O60890
UniRef90: UniRef90_O60890
UniRef50: UniRef50_O60890
UniGene: Hs.128824
CCDS: CCDS14388.1

全选

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