| Effect of the OPHN1 novel variant c.1025+1 G>A on RNA splicing: insights from a minigene assay. | Effect of the OPHN1 novel variant c.1025+1 G>A on RNA splicing: insights from a minigene assay.
Yang F, Wang M., Free PMC Article | 07/25/2024 |
| Androgen deprivationinduced OPHN1 amplification promotes castrationresistant prostate cancer. | Androgen deprivation‑induced OPHN1 amplification promotes castration‑resistant prostate cancer.
Liu J, Zhang Y, Li S, Sun F, Wang G, Wei D, Yang T, Gu S., Free PMC Article | 01/15/2022 |
| Novel unconventional variants expand the allelic spectrum of OPHN1 gene. | Novel unconventional variants expand the allelic spectrum of OPHN1 gene.
Nuovo S, Brankovic V, Caputi C, Casella A, Nigro V, Leuzzi V, Valente EM. | 08/14/2021 |
| 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 | Fasudil treatment in adult reverses behavioural changes and brain ventricular enlargement in Oligophrenin-1 mouse model of intellectual disability.
Meziane H, Khelfaoui M, Morello N, Hiba B, Calcagno E, Reibel-Foisset S, Selloum M, Chelly J, Humeau Y, Riet F, Zanni G, Herault Y, Bienvenu T, Giustetto M, Billuart P. | 09/30/2017 |
| 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. | Oligophrenin-1 regulates number, morphology and synaptic properties of adult-born inhibitory interneurons in the olfactory bulb.
Redolfi N, Galla L, Maset A, Murru L, Savoia E, Zamparo I, Gritti A, Billuart P, Passafaro M, Lodovichi C. | 07/29/2017 |
| 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. | Large in-frame intragenic deletion of OPHN1 in a male patient with a normal intelligence quotient score.
Busa T, Caietta E, Chabrol B, Girard N, Philip N, Missirian C. | 02/18/2017 |
| A neuronal stem cell-based model for the treatment of OPHN1 syndrome and other neurological disorders due to ROCK dysfunction. | Rho Kinase Inhibition Is Essential During In Vitro Neurogenesis and Promotes Phenotypic Rescue of Human Induced Pluripotent Stem Cell-Derived Neurons With Oligophrenin-1 Loss of Function.
Compagnucci C, Barresi S, Petrini S, Billuart P, Piccini G, Chiurazzi P, Alfieri P, Bertini E, Zanni G., Free PMC Article | 09/10/2016 |
| results suggest that oligophrenin-1 is involved in tumor progression in prostate cancer | Oligophrenin-1 is associated with cell adhesion and migration in prostate cancer.
Goto K, Oue N, Hayashi T, Shinmei S, Sakamoto N, Sentani K, Teishima J, Matsubara A, Yasui W. | 07/25/2015 |
| This is the first description of an in-frame deletion within the BAR domain of OPHN1 and could provide new insights into the role of this domain in relation to brain and cognitive development or function. | A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations.
Santos-Rebouças CB, Belet S, Guedes de Almeida L, Ribeiro MG, Medina-Acosta E, Bahia PR, Alves da Silva AF, Lima dos Santos F, Borges de Lacerda GC, Pimentel MM, Froyen G., Free PMC Article | 01/31/2015 |
| Our results demonstrate that multiple post-transcriptional events occur on OPHN1, a gene playing an important role in brain function and development. | Oligophrenin-1 (OPHN1), a gene involved in X-linked intellectual disability, undergoes RNA editing and alternative splicing during human brain development.
Barresi S, Tomaselli S, Athanasiadis A, Galeano F, Locatelli F, Bertini E, Zanni G, Gallo A., Free PMC Article | 01/10/2015 |
| In response to GPVI stimulation, OPHN1 becomes phosphorylated at Tyr370 and plays a role in the formation of filopodia during platelet spreading on collagen. | Targeted phosphotyrosine profiling of glycoprotein VI signaling implicates oligophrenin-1 in platelet filopodia formation.
Bleijerveld OB, van Holten TC, Preisinger C, van der Smagt JJ, Farndale RW, Kleefstra T, Willemsen MH, Urbanus RT, de Groot PG, Heck AJ, Roest M, Scholten A. | 08/31/2013 |
| Several genes expressed at exceptionally high levels were identified associated with early oocyte development, TMEFF2, the Rho-GTPase-activating protein oligophrenin 1 (OPHN1) and the mitochondrial-encoded ATPase6 (ATP6). | Global gene analysis of oocytes from early stages in human folliculogenesis shows high expression of novel genes in reproduction.
Markholt S, Grøndahl ML, Ernst EH, Andersen CY, Ernst E, Lykke-Hartmann K. | 09/15/2012 |
| This mutation determines the production of a mutant oligophrenin 1 protein with 16 extra amino acids inserted in-frame in the N-terminal BAR (Bin1/amphiphysin/Rvs167) domain. (oligophrenin 1 protein ) | Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family.
Pirozzi F, Di Raimo FR, Zanni G, Bertini E, Billuart P, Tartaglione T, Tabolacci E, Brancaccio A, Neri G, Chiurazzi P. | 06/2/2012 |
| Data suggest that OPHN1 defect may be an important contributory factor to XLMR. | Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance.
Al-Owain M, Kaya N, Al-Zaidan H, Al-Hashmi N, Al-Bakheet A, Al-Muhaizea M, Chedrawi A, Basran RK, Milunsky A. | 07/23/2011 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (3) articlesSystematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.
Piton A, Gauthier J, Hamdan FF, Lafrenière RG, Yang Y, Henrion E, Laurent S, Noreau A, Thibodeau P, Karemera L, Spiegelman D, Kuku F, Duguay J, Destroismaisons L, Jolivet P, Côté M, Lachapelle K, Diallo O, Raymond A, Marineau C, Champagne N, Xiong L, Gaspar C, Rivière JB, Tarabeux J, Cossette P, Krebs MO, Rapoport JL, Addington A, Delisi LE, Mottron L, Joober R, Fombonne E, Drapeau P, Rouleau GA. Mutation of ARHGAP9 in patients with coronary spastic angina.
Takefuji M, Asano H, Mori K, Amano M, Kato K, Watanabe T, Morita Y, Katsumi A, Itoh T, Takenawa T, Hirashiki A, Izawa H, Nagata K, Hirayama H, Takatsu F, Naoe T, Yokota M, Kaibuchi K. [Anassociation study between OPHN1 gene rs492933 polymorphism and mental retardation in children of the Qinba Mountain region.].
Zhang LJ, Zheng ZJ, Zhang KJ, Gao XC, Chen C, Huang SP, Zhang FC. | 11/5/2008 |
| oligophrenin 1 gene (OPHN1) is an Rho-GTPase-activating protein involved in the regulation of the G-protein cycle required for dendritic spine morphogenesis | Deletion of the OPHN1 gene detected by aCGH.
Madrigal I, Rodríguez-Revenga L, Badenas C, Sánchez A, Milà M. | 01/21/2010 |
| Disruption of the OPHN1 gene on Xq12 is associated with mental retardation and tall stature | Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the OPHN1 gene on Xq12.
Menten B, Buysse K, Vermeulen S, Meersschaut V, Vandesompele J, Ng BL, Carter NP, Mortier GR, Speleman F., Free PMC Article | 01/21/2010 |
| Observational study of genotype prevalence. (HuGE Navigator) | Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia.
Zanni G, Saillour Y, Nagara M, Billuart P, Castelnau L, Moraine C, Faivre L, Bertini E, Durr A, Guichet A, Rodriguez D, des Portes V, Beldjord C, Chelly J, Zanni G, Saillour Y, Nagara M, Billuart P, Castelnau L, Moraine C, Faivre L, Bertini E, Durr A, Guichet A, Rodriguez D, des Portes V, Beldjord C, Chelly J. | 03/13/2008 |
| The OPHN1 gene plays a role during the development of the human cerebellum. | Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia.
Philip N, Chabrol B, Lossi AM, Cardoso C, Guerrini R, Dobyns WB, Raybaud C, Villard L., Free PMC Article | 01/21/2010 |
| Found in glial cells forming myelin sheaths in the vagus nerve, sciatic nerve and dorsal roots of guinea-pig, rat and human, in chromaffin cells of the adrenal medulla, and in chromaffin cells associated with sympathetic ganglia. | Evidence that a major site of expression of the RHO-GTPASE activating protein, oligophrenin-1, is peripheral myelin.
Xiao J, Neylon CB, Nicholson GA, Furness JB. | 01/21/2010 |
| Oligophrenin 1 mutations were found in 12% (2/17) of individuals with mental retardatin and known cerebellar anomalies and in 1% (2/196) of the X-linked mental retardation group. | Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia.
Zanni G, Saillour Y, Nagara M, Billuart P, Castelnau L, Moraine C, Faivre L, Bertini E, Durr A, Guichet A, Rodriguez D, des Portes V, Beldjord C, Chelly J, Zanni G, Saillour Y, Nagara M, Billuart P, Castelnau L, Moraine C, Faivre L, Bertini E, Durr A, Guichet A, Rodriguez D, des Portes V, Beldjord C, Chelly J. | 01/21/2010 |