| 1 | OPHN1
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| Oligophrenin-1 regulates number, morphology and synaptic properties of adult-born inhibitory interneurons in the olfactory bulb.
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| Redolfi N, Galla L, Maset A, Murru L, Savoia E, Zamparo I, Gritti A, Billuart P, Passafaro M, Lodovichi C.
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| Hum Mol Genet 25(23):5198-5211. doi: 10.1093/hmg/ddw340.
2016
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| 2 | OPHN1, ROCK1
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| 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.
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| Compagnucci C, Barresi S, Petrini S, Billuart P, Piccini G, Chiurazzi P, Alfieri P, Bertini E, Zanni G.
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| Stem Cells Transl Med 5(7):860-9. doi: 10.5966/sctm.2015-0303. Epub 2016 May 9.
2016
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| 3 | OPHN1
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| Oligophrenin-1 Connects Exocytotic Fusion to Compensatory Endocytosis in Neuroendocrine Cells.
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| Houy S, Estay-Ahumada C, Croisé P, Calco V, Haeberlé AM, Bailly Y, Billuart P, Vitale N, Bader MF, Ory S, Gasman S.
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| J Neurosci 35(31):11045-55. doi: 10.1523/JNEUROSCI.4048-14.2015.
2015
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| 4 | OPHN1
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| Loss of oligophrenin1 leads to uncontrolled Rho activation and increased thrombus formation in mice.
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| Fotinos A, Klier M, Gowert NS, Münzer P, Klatt C, Beck S, Borst O, Billuart P, Schaller M, Lang F, Gawaz M, Elvers M.
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| J Thromb Haemost 13(4):619-30. doi: 10.1111/jth.12834. Epub 2015 Jan 29.
2015
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| 5 | HOMER1, OPHN1
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| The X-linked mental retardation protein OPHN1 interacts with Homer1b/c to control spine endocytic zone positioning and expression of synaptic potentiation.
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| Nakano-Kobayashi A, Tai Y, Nadif Kasri N, Van Aelst L.
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| J Neurosci 34(26):8665-71. doi: 10.1523/JNEUROSCI.0894-14.2014.
2014
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| 6 | OPHN1
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| Oligophrenin-1 is associated with cell adhesion and migration in prostate cancer.
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| Goto K, Oue N, Hayashi T, Shinmei S, Sakamoto N, Sentani K, Teishima J, Matsubara A, Yasui W.
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| Pathobiology 81(4):190-8. doi: 10.1159/000363345. Epub 2014 Aug 27.
2014
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| 7 | OPHN1
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| Oligophrenin-1 (OPHN1), a gene involved in X-linked intellectual disability, undergoes RNA editing and alternative splicing during human brain development.
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| Barresi S, Tomaselli S, Athanasiadis A, Galeano F, Locatelli F, Bertini E, Zanni G, Gallo A.
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| PLoS One 9(3):e91351. doi: 10.1371/journal.pone.0091351. eCollection 2014.
2014
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| 8 | MRX60, OPHN1
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| A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations.
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| 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.
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| Eur J Hum Genet 22(5):644-51. doi: 10.1038/ejhg.2013.216. Epub 2013 Oct 9.
2014
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| 9 | CDC42, OPHN1, RAC1, RHOA
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| The GRAF family member oligophrenin1 is a RhoGAP with BAR domain and regulates Rho GTPases in platelets.
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| Elvers M, Beck S, Fotinos A, Ziegler M, Gawaz M.
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| Cardiovasc Res 94(3):526-36. doi: 10.1093/cvr/cvs079. Epub 2012 Feb 1.
2012
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| 10 | OPHN1
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| Oligophrenin-1 (Ophn1) is expressed in mouse retinal vessels.
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| Sel S, Kaiser M, Nass N, Trau S, Roepke A, Storsberg J, Hampel U, Paulsen F, Kalinski T.
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| Gene Expr Patterns 12(1-2):63-7. doi: 10.1016/j.gep.2011.11.003. Epub 2011 Nov 20.
2012
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| 11 | MRX60, OPHN1
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| Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance.
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| Al-Owain M, Kaya N, Al-Zaidan H, Al-Hashmi N, Al-Bakheet A, Al-Muhaizea M, Chedrawi A, Basran RK, Milunsky A.
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| Clin Genet 79(4):363-70. doi: 10.1111/j.1399-0004.2010.01462.x.
2011
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| 12 | MRX60, OPHN1
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| Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance.
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| Al-Owain M, Kaya N, Al-Zaidan H, Al-Hashmi N, Al-Bakheet A, Al-Muhaizea M, Chedrawi A, Basran R, Milunsky A.
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| Clin Genet lin Genet. 2010 May 7. [Epub ahead of print]PMID: 20528889 2010
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| 13 | MRX60, OPHN1
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| The Rho-linked mental retardation protein oligophrenin-1 controls synapse maturation and plasticity by stabilizing AMPA receptors.
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| Nadif Kasri N, Nakano-Kobayashi A, Malinow R, Li B, Van Aelst L.
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| Genes Dev 23(11):1289-302.PMID: 19487570 2009
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| 14 | OPHN1
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| The Rho-linked mental retardation protein OPHN1 controls synaptic vesicle endocytosis via endophilin A1.
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| Nakano-Kobayashi A, Kasri NN, Newey SE, Van Aelst L.
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| Curr Biol 19(13):1133-9. Epub 2009 May 28.PMID: 19481455 2009
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| 15 | OPHN1
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| Inhibition of RhoA pathway rescues the endocytosis defects in Oligophrenin1 mouse model of mental retardation.
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| Khelfaoui M, Pavlowsky A, Powell AD, Valnegri P, Cheong KW, Blandin Y, Passafaro M, Jefferys JG, Chelly J, Billuart P.
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| Hum Mol Genet 18(14):2575-83. Epub 2009 Apr 28.PMID: 19401298 2009
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| 16 | OPHN1
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| Deletion of the OPHN1 gene detected by aCGH.
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| Madrigal I, Rodríguez-Revenga L, Badenas C, Sánchez A, Milà M.
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| J Intellect Disabil Res 52(Pt 3):190-4.PMID: 18261018 2008
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| 17 | CFNS, EFNB1, OPHN1, PJA1, EDA
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| Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome.
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| Wieland I, Weidner C, Ciccone R, Lapi E, McDonald-McGinn D, Kress W, Jakubiczka S, Collmann H, Zuffardi O, Zackai E, Wieacker P.
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| Clin Genet 72(6):506-16. Epub 2007 Oct 16. 2007
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| 18 | ACSL4, AFF2, AGTR2, ARHGEF6, ARX, ATRX, DLG3, ESMR, FTSJ1, GDI1, IL1RAPL1, KDM5C, MECP2, MRX68, MRX89, MRX90, MRXS31, NLGN3, NLGN4X, OPHN1, PQBP1, RPS6KA3, RTTM, SLC16A2, SLC6A8, SYN1, TSPAN7, ZNF41
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| X linked mental retardation: a clinical guide.
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| Raymond FL.
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| J Med Genet 43(3):193-200. Epub 2005 Aug 23. 2006
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| 19 | OPHN1, MRX60
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| Delineation of the clinical phenotype associated with OPHN1 mutations based on the clinical and neuropsychological evaluation of three families.
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| Chabrol B, Girard N, N'Guyen K, Gerard A, Carlier M, Villard L, Philip N.
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| Am J Med Genet A 138(4):314-7. 2005
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| 20 | OPHN1, MRX60
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| Specific clinical and brain MRI features in mentally retarded patients with mutations in the Oligophrenin-1 gene.
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| des Portes V, Boddaert N, Sacco S, Briault S, Maincent K, Bahi N, Gomot M, Ronce N, Bursztyn J, Adamsbaum C, Zilbovicius M, Chelly J, Moraine C.
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| Am J Med Genet 124A(4):364-71. 2004
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| 21 | OPHN1, MRX60
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| The X-linked mental retardation protein oligophrenin-1 is required for dendritic spine morphogenesis.
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| Govek EE, Newey SE, Akerman CJ, Cross JR, Van der Veken L, Van Aelst L.
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| Nat Neurosci 7(4):364-72. Epub 2004 Mar 14. 2004
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| 22 | MRX60, OPHN1
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| Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia.
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| Bergmann C, Zerres K, Senderek J, Rudnik-Schoneborn S, Eggermann T, Hausler M, Mull M, Ramaekers VT.
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| Brain 126(Pt 7):1537-44. Epub 2003 May 21. Review. 2003
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| 23 | OPHN1
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| The RhoGAP activity of OPHN1, a new F-actin-binding protein, is negatively controlled by its amino-terminal domain.
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| Fauchereau F, Herbrand U, Chafey P, Eberth A, Koulakoff A, Vinet MC, Ahmadian MR, Chelly J, Billuart P.
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| Mol Cell Neurosci 23(4):574-86. 2003
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| 24 | OPHN1
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| Significant overexpression of oligophrenin-1 in colorectal tumors detected by cDNA microarray analysis.
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| Pinheiro NA, Caballero OL, Soares F, Reis LF, Simpson AJ.
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| Cancer Lett 172(1):67-73. 2001
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| 25 | OPHN1
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| Determination of the gene structure of human oligophrenin-1 and identification of three novel polymorphisms by screening of DNA from 164 patients with non-specific X-linked mental retardation.
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| Billuart P, Chelly J, Carrie A, Vinet M, Couvert P, McDonell N, Zemni R, Kahn A, Moraine C, Beldjord C, Bienvenu T.
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| Ann Genet 43(1):5-9. 2000
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| 26 | EFNB1, HEPH, MSN, OPHN1
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| Large-insert clone/STS contigs in Xq11-q12, spanning deletions in patients with androgen insensitivity and mental retardation.
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| Schueler MG, Higgins AW, Nagaraja R, Tentler D, Dahl N, Gustashaw K, Willard HF.
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| Genomics 66(1):104-9. 2000
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| 27 | OPHN1, FGD1, FMR1, GDI1, PAK3, RPS6KA3, MRX1
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| Breakthroughs in molecular and cellular mechanisms underlying X-linked mental retardation.
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| Chelly J.
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| Hum Mol Genet 8(10):1833-8. Review. 1999
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| 28 | OPHN1, MRX60
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| Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation.
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| Billuart P, et al.
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| Nature 392 : 923-926. 1998
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