Citations for
1DDX3X, FMR1
DDX3X and specific initiation factors modulate FMR1 repeat-associated non-AUG-initiated translation.
Linsalata AE, He F, Malik AM, Glineburg MR, Green KM, Natla S, Flores BN, Krans A, Archbold HC, Fedak SJ, Barmada SJ, Todd PK.
EMBO Rep 20(9):e47498. doi: 10.15252/embr.201847498. Epub 2019 Jul 25. 2019
2FMR1, YTHDF2
Fragile X mental retardation protein modulates the stability of its m6A-marked messenger RNA targets.
Zhang F, Kang Y, Wang M, Li Y, Xu T, Yang W, Song H, Wu H, Shu Q, Jin P.
Hum Mol Genet 27(22):3936-3950. doi: 10.1093/hmg/ddy292. 2018
3FMR1, NRGN
Rapid, experience-dependent translation of neurogranin enables memory encoding.
Jones KJ, Templet S, Zemoura K, Kuzniewska B, Pena FX, Hwang H, Lei DJ, Haensgen H, Nguyen S, Saenz C, Lewis M, Dziembowska M, Xu W.
Proc Natl Acad Sci U S A 115(25):E5805-E5814. doi: 10.1073/pnas.1716750115. Epub 2018 Jun 7. 2018
4FMR1, FXPOF
Women who carry a fragile X premutation are biologically older than noncarriers as measured by telomere length.
Albizua I, Rambo-Martin BL, Allen EG, He W, Amin AS, Sherman SL.
Am J Med Genet A m J Med Genet A. 2017 Sep 21. doi: 10.1002/ajmg.a.38476. [Epub ahead of print] 2017
5FMR1
Adult Fmr1 knockout mice present with deficiencies in hippocampal interleukin-6 and tumor necrosis factor-α expression.
Hodges SL, Nolan SO, Taube JH, Lugo JN.
Neuroreport euroreport. 2017 Sep 14. doi: 10.1097/WNR.0000000000000905. [Epub ahead of print] 2017
6FMR1, FXTAS
Altered expression of the FMR1 splicing variants landscape in premutation carriers.
Tseng E, Tang HT, AlOlaby RR, Hickey L, Tassone F.
Biochim Biophys Acta iochim Biophys Acta. 2017 Sep 6. pii: S1874-9399(17)30176-1. doi: 10.1016/j.bbagrm.2017.08.007. [Epub ahead of print] 2017
7FMR1, MYF5
Fragile X mental retardation protein regulates skeletal muscle stem cell activity by regulating the stability of Myf5 mRNA.
Fujita R, Zismanov V, Jacob JM, Jamet S, Asiev K, Crist C.
Skelet Muscle 7(1):18. doi: 10.1186/s13395-017-0136-8. 2017
8FMR1
White matter microstructure, cognition, and molecular markers in fragile X premutation females.
Shelton AL, Cornish KM, Godler D, Bui QM, Kolbe S, Fielding J.
Neurology 88(22):2080-2088. doi: 10.1212/WNL.0000000000003979. Epub 2017 May 5. 2017
9FMR1, MEF2
FMRP-dependent Mdm2 dephosphorylation is required for MEF2-induced synapse elimination.
Tsai NP, Wilkerson JR, Guo W, Huber KM.
Hum Mol Genet 26(2):293-304. doi: 10.1093/hmg/ddw386. 2017
10FMR1
Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events?
Maia N, Loureiro JR, Oliveira B, Marques I, Santos R, Jorge P, Martins S.
J Hum Genet 62(2):269-275. doi: 10.1038/jhg.2016.122. Epub 2016 Oct 27. 2017
11FMR1
Activity Induces Fmr1-Sensitive Synaptic Capture of Anterograde Circulating Neuropeptide Vesicles.
Cavolo SL, Bulgari D, Deitcher DL, Levitan ES.
J Neurosci 36(46):11781-11787. 2016
12FMR1
FMRP Associates with Cytoplasmic Granules at the Onset of Meiosis in the Human Oocyte.
Rosario R, Filis P, Tessyman V, Kinnell H, Childs AJ, Gray NK, Anderson RA.
PLoS One 11(10):e0163987. doi: 10.1371/journal.pone.0163987. eCollection 2016. 2016
13FMR1, TARDBP
Co-regulation of mRNA translation by TDP-43 and Fragile X Syndrome protein FMRP.
Majumder P, Chu JF, Chatterjee B, Swamy KB, Shen CJ.
Acta Neuropathol 132(5):721-738. Epub 2016 Aug 12. 2016
14FMR1
Identification of consensus binding sites clarifies FMRP binding determinants.
Anderson BR, Chopra P, Suhl JA, Warren ST, Bassell GJ.
Nucleic Acids Res 44(14):6649-59. doi: 10.1093/nar/gkw593. Epub 2016 Jul 4. 2016
15FMR1
Synaptic vesicle dynamic changes in a model of fragile X.
Broek JAC, Lin Z, de Gruiter HM, van 't Spijker H, Haasdijk ED, Cox D, Ozcan S, van Cappellen GWA, Houtsmuller AB, Willemsen R, de Zeeuw CI, Bahn S.
Mol Autism 7:17. doi: 10.1186/s13229-016-0080-1. eCollection 2016. 2016
16FMR1
Fragile X Mental Retardation Protein expression in the retina is regulated by light.
Guimarães-Souza EM, Perche O, Morgans CW, Duvoisin RM, Calaza KC.
Exp Eye Res 146:72-82. doi: 10.1016/j.exer.2015.11.025. Epub 2015 Dec 21. 2016
17CYFIP1, EIF4E, FMR1, MKNK1, MKNK2
The MAP kinase-interacting kinases regulate cell migration, vimentin expression and eIF4E/CYFIP1 binding.
Beggs JE, Tian S, Jones GG, Xie J, Iadevaia V, Jenei V, Thomas G, Proud CG.
Biochem J 467(1):63-76. doi: 10.1042/BJ20141066. 2015
18FMR1, GABRB3, GRM5
Hippocampal dysregulation of FMRP/mGluR5 signaling in engrailed-2 knockout mice: a model of autism spectrum disorders.
Provenzano G, Sgadò P, Genovesi S, Zunino G, Casarosa S, Bozzi Y.
Neuroreport 26(18):1101-5. doi: 10.1097/WNR.0000000000000477. 2015
19FMR1, FXR2, GRIA1
Fragile X Proteins FMRP and FXR2P Control Synaptic GluA1 Expression and Neuronal Maturation via Distinct Mechanisms.
Guo W, Polich ED, Su J, Gao Y, Christopher DM, Allan AM, Wang M, Wang F, Wang G, Zhao X.
Cell Rep 11(10):1651-66. doi: 10.1016/j.celrep.2015.05.013. Epub 2015 Jun 4. 2015
20FMR1, GABBR1
GABAB receptor upregulates fragile X mental retardation protein expression in neurons.
Zhang W, Xu C, Tu H, Wang Y, Sun Q, Hu P, Hu Y, Rondard P, Liu J.
Sci Rep 5:10468. doi: 10.1038/srep10468. 2015
21FMR1
A novel fragile X syndrome mutation reveals a conserved role for the carboxy-terminus in FMRP localization and function.
Okray Z, de Esch CE, Van Esch H, Devriendt K, Claeys A, Yan J, Verbeeck J, Froyen G, Willemsen R, de Vrij FM, Hassan BA.
EMBO Mol Med 7(4):423-37. doi: 10.15252/emmm.201404576. 2015
22FMR1, FRAXA
A novel fragile X syndrome mutation reveals a conserved role for the carboxy-terminus in FMRP localization and function.
Okray Z, de Esch CE, Van Esch H, Devriendt K, Claeys A, Yan J, Verbeeck J, Froyen G, Willemsen R, de Vrij FM, Hassan BA.
EMBO Mol Med 7(4):423-37. doi: 10.15252/emmm.201404576. 2015
23FMR1
Human FMRP contains an integral tandem Agenet (Tudor) and KH motif in the amino terminal domain.
Myrick LK, Hashimoto H, Cheng X, Warren ST.
Hum Mol Genet 24(6):1733-40. doi: 10.1093/hmg/ddu586. Epub 2014 Nov 20. 2015
24DLG4, FMR1, FXR2
FXR2P Exerts a Positive Translational Control and Is Required for the Activity-Dependent Increase of PSD95 Expression.
Fernández E, Li KW, Rajan N, De Rubeis S, Fiers M, Smit AB, Achsel T, Bagni C.
J Neurosci 35(25):9402-8. doi: 10.1523/JNEUROSCI.4800-14.2015. 2015
25FMR1, FXR2
The Fragile X proteins Fmrp and Fxr2p cooperate to regulate glucose metabolism in mice.
Lumaban JG, Nelson DL.
Hum Mol Genet 24(8):2175-84. doi: 10.1093/hmg/ddu737. Epub 2014 Dec 30. 2015
26FMR1, MOV10
MOV10 and FMRP regulate AGO2 association with microRNA recognition elements.
Kenny PJ, Zhou H, Kim M, Skariah G, Khetani RS, Drnevich J, Arcila ML, Kosik KS, Ceman S.
Cell Rep 9(5):1729-41. doi: 10.1016/j.celrep.2014.10.054. Epub 2014 Nov 20. 2014
27FMR1
FMRP regulates multipolar to bipolar transition affecting neuronal migration and cortical circuitry.
La Fata G, Gärtner A, Domínguez-Iturza N, Dresselaers T, Dawitz J, Poorthuis RB, Averna M, Himmelreich U, Meredith RM, Achsel T, Dotti CG, Bagni C.
Nat Neurosci 17(12):1693-700. doi: 10.1038/nn.3870. Epub 2014 Nov 17. 2014
28FMR1, STUB1
Regulation of fragile X mental retardation 1 protein by C-terminus of Hsc70-interacting protein depends on its phosphorylation status.
Choi YN, Jeong DH, Lee JS, Yoo SJ.
Biochem Biophys Res Commun 453(1):192-7. doi: 10.1016/j.bbrc.2014.09.099. Epub 2014 Sep 28. 2014
29FMR1
Elevated levels of FMR1 mRNA in granulosa cells are associated with low ovarian reserve in FMR1 premutation carriers.
Elizur SE, Lebovitz O, Derech-Haim S, Dratviman-Storobinsky O, Feldman B, Dor J, Orvieto R, Cohen Y.
PLoS One 9(8):e105121. doi: 10.1371/journal.pone.0105121. eCollection 2014. 2014
30FMR1
Distribution of fragile X mental retardation protein in the human auditory brainstem.
Beebe K, Wang Y, Kulesza R.
Neuroscience 273:79-91. doi: 10.1016/j.neuroscience.2014.05.006. Epub 2014 May 15. 2014
31FMR1
A chromatin-dependent role of the fragile X mental retardation protein FMRP in the DNA damage response.
Alpatov R, Lesch BJ, Nakamoto-Kinoshita M, Blanco A, Chen S, Stützer A, Armache KJ, Simon MD, Xu C, Ali M, Murn J, Prisic S, Kutateladze TG, Vakoc CR, Min J, Kingston RE, Fischle W, Warren ST, Page DC, Shi Y.
Cell 157(4):869-81. doi: 10.1016/j.cell.2014.03.040. 2014
32FMR1
Fragile X mental retardation protein regulates translation by binding directly to the ribosome.
Chen E, Sharma MR, Shi X, Agrawal RK, Joseph S.
Mol Cell 54(3):407-417. doi: 10.1016/j.molcel.2014.03.023. Epub 2014 Apr 17. 2014
33FMR1
Subcellular fractionation and localization studies reveal a direct interaction of the fragile X mental retardation protein (FMRP) with nucleolin.
Taha MS, Nouri K, Milroy LG, Moll JM, Herrmann C, Brunsveld L, Piekorz RP, Ahmadian MR.
PLoS One 9(3):e91465. doi: 10.1371/journal.pone.0091465. eCollection 2014. 2014
34FMR1, MYO5A
Myosin Va is required for the transport of fragile X mental retardation protein (FMRP) granules.
Lindsay AJ, McCaffrey MW.
Biol Cell 106(2):57-71. doi: 10.1111/boc.201200076. Epub 2014 Jan 8. 2014
35FMR1
Nuclear Fragile X Mental Retardation Protein is localized to Cajal bodies.
Dury AY, El Fatimy R, Tremblay S, Rose TM, Côté J, De Koninck P, Khandjian EW.
PLoS Genet 9(10):e1003890. doi: 10.1371/journal.pgen.1003890. Epub 2013 Oct 31. 2013
36EIF4A3, ELAVL1, FMR1, HNRNPC, PABPC1, RALY
Proteome-wide characterization of the RNA-binding protein RALY-interactome using the in vivo-biotinylation-pulldown-quant (iBioPQ) approach.
Tenzer S, Moro A, Kuharev J, Francis AC, Vidalino L, Provenzani A, Macchi P.
J Proteome Res 12(6):2869-84. doi: 10.1021/pr400193j. Epub 2013 May 6. 2013
37FMR1, PKP4
FMRP regulates actin filament organization via the armadillo protein p0071.
Nolze A, Schneider J, Keil R, Lederer M, Hüttelmaier S, Kessels MM, Qualmann B, Hatzfeld M.
RNA 19(11):1483-96. doi: 10.1261/rna.037945.112. Epub 2013 Sep 23. 2013
38FMR1, FRAXA
Programmed cell death is impaired in the developing brain of FMR1 mutants.
Cheng Y, Corbin JG, Levy RJ.
Dev Neurosci 35(4):347-58. doi: 10.1159/000353248. Epub 2013 Jul 27. 2013
39CTCF, FMR1
Role of CTCF protein in regulating FMR1 locus transcription.
Lanni S, Goracci M, Borrelli L, Mancano G, Chiurazzi P, Moscato U, Ferrè F, Helmer-Citterich M, Tabolacci E, Neri G.
PLoS Genet 9(7):e1003601. doi: 10.1371/journal.pgen.1003601. Epub 2013 Jul 18. 2013
40FMR1
Brain structure in asymptomatic FMR1 premutation carriers at risk for fragile X-associated tremor/ataxia syndrome.
Battistella G, Niederhauser J, Fornari E, Hippolyte L, Gronchi Perrin A, Lesca G, Forzano F, Hagmann P, Vingerhoets FJ, Draganski B, Maeder P, Jacquemont S.
Neurobiol Aging 34(6):1700-7. doi: 10.1016/j.neurobiolaging.2012.12.001. Epub 2013 Jan 5. 2013
41FMR1, FRAXA
Craniofacial characteristics of fragile X syndrome in mouse and man.
Heulens I, Suttie M, Postnov A, De Clerck N, Perrotta CS, Mattina T, Faravelli F, Forzano F, Kooy RF, Hammond P.
Eur J Hum Genet 21(8):816-23. doi: 10.1038/ejhg.2012.265. Epub 2012 Dec 5. 2013
42FMR1, STAU1, TARDBP
Neurodegeneration-associated TDP-43 interacts with fragile X mental retardation protein (FMRP)/Staufen (STAU1) and regulates SIRT1 expression in neuronal cells.
Yu Z, Fan D, Gui B, Shi L, Xuan C, Shan L, Wang Q, Shang Y, Wang Y.
J Biol Chem 287(27):22560-72. Epub 2012 May 14. 2012
43FMR1, SHANK2
Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology.
Berkel S, Tang W, Treviño M, Vogt M, Obenhaus HA, Gass P, Scherer SW, Sprengel R, Schratt G, Rappold GA.
Hum Mol Genet 21(2):344-57. doi: 10.1093/hmg/ddr470. Epub 2011 Oct 12. 2012
44FMR1, MRD37, POGZ
De novo gene disruptions in children on the autistic spectrum.
Iossifov I, Ronemus M, Levy D, Wang Z, Hakker I, Rosenbaum J, Yamrom B, Lee YH, Narzisi G, Leotta A, Kendall J, Grabowska E, Ma B, Marks S, Rodgers L, Stepansky A, Troge J, Andrews P, Bekritsky M, Pradhan K, Ghiban E, Kramer M, Parla J, Demeter R, Fulton LL, Fulton RS, Magrini VJ, Ye K, Darnell JC, Darnell RB, Mardis ER, Wilson RK, Schatz MC, McCombie WR, Wigler M.
Neuron 74(2):285-99. doi: 10.1016/j.neuron.2012.04.009. 2012
45FMR1, NTF3
Excessive astrocyte-derived neurotrophin-3 contributes to the abnormal neuronal dendritic development in a mouse model of fragile X syndrome.
Yang Q, Feng B, Zhang K, Guo YY, Liu SB, Wu YM, Li XQ, Zhao MG.
PLoS Genet 8(12):e1003172. doi: 10.1371/journal.pgen.1003172. Epub 2012 Dec 27. 2012
46FMR1, STAU1, TARDBP
Neurodegeneration-associated TDP-43 interacts with fragile X mental retardation protein (FMRP)/Staufen (STAU1) and regulates SIRT1 expression in neuronal cells.
Yu Z, Fan D, Gui B, Shi L, Xuan C, Shan L, Wang Q, Shang Y, Wang Y.
J Biol Chem 287(27):22560-72. doi: 10.1074/jbc.M112.357582. Epub 2012 May 14. 2012
47FMR1, NOS1
Species-dependent posttranscriptional regulation of NOS1 by FMRP in the developing cerebral cortex.
Kwan KY, Lam MM, Johnson MB, Dube U, Shim S, Rašin MR, Sousa AM, Fertuzinhos S, Chen JG, Arellano JI, Chan DW, Pletikos M, Vasung L, Rowitch DH, Huang EJ, Schwartz ML, Willemsen R, Oostra BA, Rakic P, Heffer M, Kostović I, Judaš M, Sestan N.
Cell 149(4):899-911. doi: 10.1016/j.cell.2012.02.060. 2012
48DLG4, FMR1, MEF2A, PCDH10
Multiple autism-linked genes mediate synapse elimination via proteasomal degradation of a synaptic scaffold PSD-95.
Tsai NP, Wilkerson JR, Guo W, Maksimova MA, DeMartino GN, Cowan CW, Huber KM.
Cell 151(7):1581-94. doi: 10.1016/j.cell.2012.11.040. 2012
49FMR1, FRAXA
FMRP targets distinct mRNA sequence elements to regulate protein expression.
Ascano M Jr, Mukherjee N, Bandaru P, Miller JB, Nusbaum JD, Corcoran DL, Langlois C, Munschauer M, Dewell S, Hafner M, Williams Z, Ohler U, Tuschl T.
Nature 492(7429):382-6. doi: 10.1038/nature11737. Epub 2012 Dec 12. 2012
50FMR1, KCND2
Fragile X mental retardation protein regulates protein expression and mRNA translation of the potassium channel Kv4.2.
Gross C, Yao X, Pong DL, Jeromin A, Bassell GJ.
J Neurosci 31(15):5693-8. 2011
51DELXQF, FMR1, POF1
Terminal deletions of the long arm of chromosome X that include the FMR1 gene in female patients: A case series.
Yachelevich N, Gittler JK, Klugman S, Feldman B, Martin J, Brooks SS, Dobkin C, Nolin SL.
Am J Med Genet A 155(4):870-4. doi: 10.1002/ajmg.a.33936. Epub 2011 Mar 15. 2011
52FMR1
FMRP regulates the transition from radial glial cells to intermediate progenitor cells during neocortical development.
Saffary R, Xie Z.
J Neurosci 31(4):1427-39. 2011
53FMR1
Dual regulation of fragile X mental retardation protein by group I metabotropic glutamate receptors controls translation-dependent epileptogenesis in the hippocampus.
Zhao W, Chuang SC, Bianchi R, Wong RK.
J Neurosci 31(2):725-34. 2011
54FMR1, FRAXA
Fragile X mental retardation protein regulates new neuron differentiation in the adult olfactory bulb.
Scotto-Lomassese S, Nissant A, Mota T, Néant-Féry M, Oostra BA, Greer CA, Lledo PM, Trembleau A, Caillé I.
J Neurosci 31(6):2205-15. 2011
55FMR1
Ablation of Fmrp in adult neural stem cells disrupts hippocampus-dependent learning.
Guo W, Allan AM, Zong R, Zhang L, Johnson EB, Schaller EG, Murthy AC, Goggin SL, Eisch AJ, Oostra BA, Nelson DL, Jin P, Zhao X.
Nat Med 17(5):559-65. Epub 2011 Apr 24. 2011
56FMR1
Structure-function studies of FMRP RGG peptide recognition of an RNA duplex-quadruplex junction.
Phan AT, Kuryavyi V, Darnell JC, Serganov A, Majumdar A, Ilin S, Raslin T, Polonskaia A, Chen C, Clain D, Darnell RB, Patel DJ.
Nat Struct Mol Biol 18(7):796-804. doi: 10.1038/nsmb.2064. 2011
57FMR1
FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism.
Darnell JC, Van Driesche SJ, Zhang C, Hung KY, Mele A, Fraser CE, Stone EF, Chen C, Fak JJ, Chi SW, Licatalosi DD, Richter JD, Darnell RB.
Cell 146(2):247-61. 2011
58FMR1
Fragile X mental retardation protein is required for programmed cell death and clearance of developmentally-transient peptidergic neurons.
Gatto CL, Broadie K.
Dev Biol 356(2):291-307. Epub 2011 May 10. 2011
59FMR1, TSC1, TSC2
Mutations causing syndromic autism define an axis of synaptic pathophysiology.
Auerbach BD, Osterweil EK, Bear MF.
Nature 480(7375):63-8. doi: 10.1038/nature10658. 2011
60DUPXQ27, DUPXQ28, FMR1
Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition.
Rio M, Malan V, Boissel S, Toutain A, Royer G, Gobin S, Morichon-Delvallez N, Turleau C, Bonnefont JP, Munnich A, Vekemans M, Colleaux L.
Eur J Hum Genet 18(3):285-90. Epub 2009 Oct 21.PMID: 19844254 2010
61FMR1, FRAXA
Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.
Godler DE, Tassone F, Loesch DZ, Taylor AK, Gehling F, Hagerman RJ, Burgess T, Ganesamoorthy D, Hennerich D, Gordon L, Evans A, Choo KH, Slater HR.
Hum Mol Genet 19(8):1618-32. Epub 2010 Jan 29. 2010
62FMR1, NEUROG1
Fragile x mental retardation protein regulates proliferation and differentiation of adult neural stem/progenitor cells.
Luo Y, Shan G, Guo W, Smrt RD, Johnson EB, Li X, Pfeiffer RL, Szulwach KE, Duan R, Barkho BZ, Li W, Liu C, Jin P, Zhao X.
PLoS Genet 6(4):e1000898. 2010
63FMR1, FXR1, FXR2
Fragile X mental retardation protein has a unique, evolutionarily conserved neuronal function not shared with FXR1P or FXR2P.
Coffee RL Jr, Tessier CR, Woodruff EA 3rd, Broadie K.
Dis Model Mech is Model Mech. 2010 May 4. [Epub ahead of print]PMID: 20442204 2010
64FMR1, FXTAS
Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome.
Ross-Inta C, Omanska-Klusek A, Wong S, Barrow C, Garcia-Arocena D, Iwahashi C, Berry-Kravis E, Hagerman RJ, Hagerman PJ, Giulivi C.
Biochem J 429(3):545-52. 2010
65FMR1, KCNT1
Fragile X mental retardation protein controls gating of the sodium-activated potassium channel Slack.
Brown MR, Kronengold J, Gazula VR, Chen Y, Strumbos JG, Sigworth FJ, Navaratnam D, Kaczmarek LK.
Nat Neurosci 13(7):819-21. Epub 2010 May 30.PMID: 20512134 2010
66FMR1, FRAXA
The behavioral phenotype of FMR1 mutations.
Boyle L, Kaufmann WE.
Am J Med Genet C Semin Med Genet 154C(4):469-76. Review. 2010
67FMR1, FRAXA
The distribution of repressive histone modifications on silenced FMR1 alleles provides clues to the mechanism of gene silencing in fragile X syndrome.
Kumari D, Usdin K.
Hum Mol Genet 19(23):4634-42. Epub 2010 Sep 14. 2010
68FMR1
Fragile X protein FMRP is required for homeostatic plasticity and regulation of synaptic strength by retinoic acid.
Soden ME, Chen L.
J Neurosci. 30(50):16910-21. 2010
69FMR1, FMRP
Fragile X mental retardation protein FMRP binds mRNAs in the nucleus.
Kim M, Bellini M, Ceman S
Mol Cell Biol. 29(1):214-28 2009
70FMR1, FXTAS
Is there evidence for neuropsychological and neurobehavioral phenotypes among adults without FXTAS who carry the FMR1 premutation? A review of current literature.
Hunter JE, Abramowitz A, Rusin M, Sherman SL.
Genet Med 11(2):79-89. 2009
71FMR1, FXPOF
Very early premature ovarian failure in two sisters compound heterozygous for the FMR1 premutation.
Van Esch H, Buekenhout L, Race V, Matthijs G.
Eur J Med Genet 52(1):37-40. Epub 2008 Nov 17. 2009
72ATM, FMR1
The role of DNA damage response pathways in chromosome fragility in Fragile X syndrome.
Kumari D, Somma V, Nakamura AJ, Bonner WM, D'Ambrosio E, Usdin K.
Nucleic Acids Res 37(13):4385-92. Epub 2009 May 21. 2009
73FMR1, FXPOF, FXTAS
Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families.
Rodriguez-Revenga L, Madrigal I, Pagonabarraga J, Xunclà M, Badenas C, Kulisevsky J, Gomez B, Milà M.
Eur J Hum Genet 17(10):1359-62. Epub 2009 Apr 15. 2009
74FMR1, FRAXA
Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA.
Coffee B, Keith K, Albizua I, Malone T, Mowrey J, Sherman SL, Warren ST.
Am J Hum Genet 85(4):503-14. 2009
75FMR1, FRAXA
A distinct DNA-methylation boundary in the 5'- upstream sequence of the FMR1 promoter binds nuclear proteins and is lost in fragile X syndrome.
Naumann A, Hochstein N, Weber S, Fanning E, Doerfler W.
Am J Hum Genet 85(5):606-16. Epub 2009 Oct 22.PMID: 19853235 2009
76FMR1, SHANK1, SHANK2, SHANK3
Fragile X mental retardation protein regulates the levels of scaffold proteins and glutamate receptors in postsynaptic densities.
Schütt J, Falley K, Richter D, Kreienkamp HJ, Kindler S.
J Biol Chem 284(38):25479-87. Epub 2009 Jul 28.PMID: 19640847 2009
77FMR1, FXR1, FXR2
Discrimination of common and unique RNA-binding activities among Fragile X mental retardation protein paralogs.
Darnell JC, Fraser CE, Mostovetsky O, Darnell RB.
Hum Mol Genet 18(17):3164-77. Epub 2009 Jun 1.PMID: 19487368 2009
78FMR1, FXTAS
The FMR1 gene and fragile X-associated tremor/ataxia syndrome.
Brouwer JR, Willemsen R, Oostra BA.
Am J Med Genet B Neuropsychiatr Genet 150B(6):782-98. Review.PMID: 19105204 2009
79FMR1, FXTAS
Penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutation.
Sévin M, Kutalik Z, Bergman S, Vercelletto M, Renou P, Lamy E, Vingerhoets FJ, Di Virgilio G, Boisseau P, Bezieau S, Pasquier L, Rival JM, Beckmann JS, Damier P, Jacquemont S.
J Med Genet 46(12):818-24. Epub 2009 Jun 18.PMID: 19542082 2009
80FMR1, FXR2
Fragile X-related proteins regulate mammalian circadian behavioral rhythms.
Zhang J, Fang Z, Jud C, Vansteensel MJ, Kaasik K, Lee CC, Albrecht U, Tamanini F, Meijer JH, Oostra BA, Nelson DL.
Am J Hum Genet 83(1):43-52. Epub 2008 Jun 26. 2008
81BCYRN1, FMR1
On BC1 RNA and the fragile X mental retardation protein.
Iacoangeli A, Rozhdestvensky TS, Dolzhanskaya N, Tournier B, SchŸtt J, Brosius J, Denman RB, Khandjian EW, Kindler S, Tiedge H.
Proc Natl Acad Sci U S A 105(2):734-9. Epub 2008 Jan 9. 2008
82FMR1, FXTAS
A low symptomatic form of neurodegeneration in younger carriers of the FMR1 premutation, manifesting typical radiological changes.
Loesch DZ, Cook M, Litewka L, Gould E, Churchyard A, Tassone F, Slater HR, Storey E.
J Med Genet 45(3):179-81. Epub 2007 Dec 5. 2008
83FMR1
The G-quartet containing FMRP binding site in FMR1 mRNA is a potent exonic splicing enhancer.
Didiot MC, Tian Z, Schaeffer C, Subramanian M, Mandel JL, Moine H.
Nucleic Acids Res 36(15):4902-12. Epub 2008 Jul 24. 2008
84FMR1
XLMR genes: update 2007.
Chiurazzi P, Schwartz CE, Gecz J, Neri G.
Eur J Hum Genet 16(4):422-34. Epub 2008 Jan 16. 2008
85FMR1, FXTAS
A quantitative assessment of tremor and ataxia in FMR1 premutation carriers using CATSYS.
Aguilar D, Sigford KE, Soontarapornchai K, Nguyen DV, Adams PE, Yuhas JM, Tassone F, Hagerman PJ, Hagerman RJ.
Am J Med Genet A 146(5):629-35. 2008
86FRAXA, FMR1
Aberrant early-phase ERK inactivation impedes neuronal function in fragile X syndrome.
Kim SH, Markham JA, Weiler IJ, Greenough WT.
Proc Natl Acad Sci U S A 105(11):4429-34. Epub 2008 Mar 10. 2008
87CYFIP1, EIF4E, FMR1
The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP.
Napoli I, Mercaldo V, Boyl PP, Eleuteri B, Zalfa F, De Rubeis S, Di Marino D, Mohr E, Massimi M, Falconi M, Witke W, Costa-Mattioli M, Sonenberg N, Achsel T, Bagni C.
Cell 134(6):1042-54. 2008
88DDX3X, FMR1, SERBP1, TDRD3
TDRD3, a novel Tudor domain-containing protein, localizes to cytoplasmic stress granules.
Goulet I, Boisvenue S, Mokas S, Mazroui R, Côté J.
Hum Mol Genet 17(19):3055-74. Epub 2008 Jul 15. 2008
89FMR1, FXTAS
Dementia in fragile X-associated tremor/ataxia syndrome (FXTAS): comparison with Alzheimer's disease.
Seritan AL, Nguyen DV, Farias ST, Hinton L, Grigsby J, Bourgeois JA, Hagerman RJ.
Am J Med Genet B Neuropsychiatr Genet 147B(7):1138-44. 2008
90FMR1, TDRD3
Tdrd3 is a novel stress granule-associated protein interacting with the Fragile-X syndrome protein FMRP.
Linder B, Plöttner O, Kroiss M, Hartmann E, Laggerbauer B, Meister G, Keidel E, Fischer U.
Hum Mol Genet 17(20):3236-46. Epub 2008 Jul 28. 2008
91FMR1, FRAXA
No evidence for a difference in neuropsychological profile among carriers and noncarriers of the FMR1 premutation in adults under the age of 50.
Hunter JE, Allen EG, Abramowitz A, Rusin M, Leslie M, Novak G, Hamilton D, Shubeck L, Charen K, Sherman SL.
Am J Hum Genet 83(6):692-702. Epub 2008 Nov 20. 2008
92FMR1, FMRP
A direct role for FMRP in activity-dependent dendritic mRNA transport links filopodial-spine morphogenesis to fragile X syndrome.
Dictenberg, J. B.; Swanger, S. A.; Antar, L. N.; Singer, R. H.; Bassell, G. J.
Dev. Cell 14: 926-939 2008
93FMR1, FXR2
Fragile X-related proteins regulate mammalian circadian behavioral rhythms.
Zhang J, Fang Z, Jud C, Vansteensel MJ, Kaasik K, Lee CC, Albrecht U, Tamanini F, Meijer JH, Oostra BA, Nelson DL.
Am J Hum Genet 83(1):43-52. Epub 2008 Jun 26.PMID: 18589395 2008
94FMR1, GRM1
Roles of calcium-stimulated adenylyl cyclase and calmodulin-dependent protein kinase IV in the regulation of FMRP by group I metabotropic glutamate receptors.
Wang H, Wu LJ, Zhang F, Zhuo M.
J Neurosci 28(17):4385-97.PMID: 18434517 2008
95FMR1, MAP1B
Fragile X mental retardation protein interactions with the microtubule associated protein 1B RNA.
Menon L, Mader SA, Mihailescu MR.
RNA 14(8):1644-55. Epub 2008 Jun 25. 2008
96FMR1
FMRP acts as a key messenger for dopamine modulation in the forebrain.
Wang H, Wu LJ, Kim SS, Lee FJ, Gong B, Toyoda H, Ren M, Shang YZ, Xu H, Liu F, Zhao MG, Zhuo M.
Neuron 59(4):634-47. 2008
97FMR1, FXTAS, FRAXA
Neuropathic features in fragile X premutation carriers.
Berry-Kravis E, Goetz CG, Leehey MA, Hagerman RJ, Zhang L, Li L, Nguyen D, Hall DA, Tartaglia N, Cogswell J, Tassone F, Hagerman PJ.
Am J Med Genet A 143(1):19-26. 2007
98FMR1
Fragile X related protein 1 isoforms differentially modulate the affinity of fragile X mental retardation protein for G-quartet RNA structure.
Bechara E, Davidovic L, Melko M, Bensaid M, Tremblay S, Grosgeorge J, Khandjian EW, Lalli E, Bardoni B.
Nucleic Acids Res 35(1):299-306. Epub 2006 Dec 14. 2007
99DLGAP4,DLG4,FMR1
A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability.
Zalfa F, Eleuteri B, Dickson KS, Mercaldo V, De Rubeis S, di Penta A, Tabolacci E, Chiurazzi P, Neri G, Grant SG, Bagni C.
Nat Neurosci 10(5):578-87. Epub 2007 Apr 8. 2007
100FMR1,GPR155,JAKMIP1
Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways.
Nishimura Y, Martin CL, Vazquez-Lopez A, Spence SJ, Alvarez-Retuerto AI, Sigman M, Steindler C, Pellegrini S, Schanen NC, Warren ST, Geschwind DH.
Hum Mol Genet 16(14):1682-98. Epub 2007 May 21. 2007
101FRAXA, GRM5, FMR1
Fragile X mental retardation protein deficiency leads to excessive mGluR5-dependent internalization of AMPA receptors.
Nakamoto M, Nalavadi V, Epstein MP, Narayanan U, Bassell GJ, Warren ST.
Proc Natl Acad Sci U S A 104(39):15537-42. Epub 2007 Sep 19. 2007
102FMR1, KIF3C
The fragile X mental retardation protein is a molecular adaptor between the neurospecific KIF3C kinesin and dendritic RNA granules.
Davidovic L, Jaglin XH, Lepagnol-Bestel AM, Tremblay S, Simonneau M, Bardoni B, Khandjian EW.
Hum Mol Genet 16(24):3047-58. Epub 2007 Sep 19. 2007
103FMR1, FRAXA, ASFMR1
An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals.
Ladd PD, Smith LE, Rabaia NA, Moore JM, Georges SA, Hansen RS, Hagerman RJ, Tassone F, Tapscott SJ, Filippova GN.
Hum Mol Genet 16(24):3174-87. Epub 2007 Oct 6. 2007
104FMR1
Fragile X mental retardation protein induces synapse loss through acute postsynaptic translational regulation.
Pfeiffer BE, Huber KM.
J Neurosci 27(12):3120-30. 2007
105FMR1, FRAXA
Fronto-striatal dysfunction and potential compensatory mechanisms in male adolescents with fragile X syndrome.
Hoeft F, Hernandez A, Parthasarathy S, Watson CL, Hall SS, Reiss AL.
Hum Brain Mapp 28(6):543-54. 2007
106FMR1, FXTAS
Atypical clinical course of FXTAS: rapidly progressive dementia as the major symptom.
Gonçalves MR, Capelli LP, Nitrini R, Barbosa ER, Porto CS, Lucato LT, Vianna-Morgante AM.
Neurology 68(21):1864-6. No abstract available. 2007
107FMR1, FRAXA
Fragile X mental retardation syndrome: structure of the KH1-KH2 domains of fragile X mental retardation protein.
Valverde R, Pozdnyakova I, Kajander T, Venkatraman J, Regan L.
Structure 15(9):1090-8. 2007
108FMR1, PRMT1
Identification and characterization of the methyl arginines in the fragile X mental retardation protein Fmrp.
Stetler A, Winograd C, Sayegh J, Cheever A, Patton E, Zhang X, Clarke S, Ceman S.
Hum Mol Genet 15(1):87-96. Epub 2005 Nov 30. 2006
109FMR1, MCRS1
The nuclear MicroSpherule protein 58 is a novel RNA-binding protein that interacts with fragile X mental retardation protein in polyribosomal mRNPs from neurons.
Davidovic L, Bechara E, Gravel M, Jaglin XH, Tremblay S, Sik A, Bardoni B, Khandjian EW.
Hum Mol Genet 15(9):1525-38. Epub 2006
110FRAXA, FMR1
A cryptic full mutation in a male with a classical Fragile X phenotype.
MacKenzie JJ, Sumargo I, Taylor SA.
Clin Genet 70(1):39-42. 2006
111FMR1
The active FMR1 promoter is associated with a large domain of altered chromatin conformation with embedded local histone modifications.
Gheldof N, Tabuchi TM, Dekker J.
Proc Natl Acad Sci U S A 103(33):12463-8. Epub 2006 Aug 4. 2006
112FRAXA, FMR1
ADHD symptoms in children with FXS.
Sullivan K, Hatton D, Hammer J, Sideris J, Hooper S, Ornstein P, Bailey D Jr.
Am J Med Genet A 140(21):2275-88. 2006
113FMR1, CREB1
The gene encoding the fragile X RNA-binding protein is controlled by nuclear respiratory factor 2 and the CREB family of transcription factors.
Smith KT, Nicholls RD, Reines D.
Nucleic Acids Res 34(4):1205-15. Print 2006. 2006
114FMR1, NR3C2, PHA1A2
Methylation regulates the intracellular protein-protein and protein-RNA interactions of FMRP.
Dolzhanskaya N, Merz G, Aletta JM, Denman RB.
J Cell Sci 119(Pt 9):1933-46. 2006
115FMR1
Local functions for FMRP in axon growth cone motility and activity-dependent regulation of filopodia and spine synapses.
Antar LN, Li C, Zhang H, Carroll RC, Bassell GJ.
Mol Cell Neurosci 32(1-2):37-48. Epub 2006 May 2. 2006
116FMR1
Alternative splicing modulates protein arginine methyltransferase-dependent methylation of fragile X syndrome mental retardation protein.
Dolzhanskaya N, Merz G, Denman RB.
Biochemistry 45(34):10385-93. 2006
117FMR1, FXR2
Exaggerated behavioral phenotypes in Fmr1/Fxr2 double knockout mice reveal a functional genetic interaction between Fragile X-related proteins.
Spencer CM, Serysheva E, Yuva-Paylor LA, Oostra BA, Nelson DL, Paylor R.
Hum Mol Genet 15(12):1984-94. Epub 2006 May 4.PMID: 16675531 2006
118FMR1
Molecular dissection of the events leading to inactivation of the FMR1 gene.
Pietrobono R, Tabolacci E, Zalfa F, Zito I, Terracciano A, Moscato U, Bagni C, Oostra B, Chiurazzi P, Neri G.
Hum Mol Genet 14(2):267-77. Epub 2004 Nov 24. 2005
119FMR1, FXTAS, FRAXA
Evidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre-mutation: FXTAS and beyond.
Loesch DZ, Churchyard A, Brotchie P, Marot M, Tassone F.
Clin Genet 67(5):412-7. 2005
120FMR1, TFAP2A
AP-2alpha selectively regulates fragile X mental retardation-1 gene transcription during embryonic development.
Lim JH, Booker AB, Luo T, Williams T, Furuta Y, Lagutin O, Oliver G, Sargent TD, Fallon JR.
Hum Mol Genet 14(14):2027-34. Epub 2005 Jun 1. 2005
121LMNA, FXTAS, FMR1
Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells.
Arocena DG, Iwahashi CK, Won N, Beilina A, Ludwig AL, Tassone F, Schwartz PH, Hagerman PJ.
Hum Mol Genet 14(23):3661-71. Epub 2005 Oct 20. 2005
122FMR1
An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene.
Saluto A, Brussino A, Tassone F, Arduino C, Cagnoli C, Pappi P, Hagerman P, Migone N, Brusco A.
J Mol Diagn 7(5):605-12. 2005
123FXTAS, FMR1, FRAXA
Parkinsonism, FXTAS, and FMR1 premutations.
Toft M, Aasly J, Bisceglio G, Adler CH, Uitti RJ, Krygowska-Wajs A, Lynch T, Wszolek ZK, Farrer MJ.
Mov Disord 20(2):230-3. 2005
124FXN, FRDA, FRAXA, FMR1, FRAXE, ATXN1, SCA1, ATXN2, SCA2, ATXN3, MJD, ATXN7, SCA7, SCA6, CACNA1A, SCA17, TBP, DRPLA, ATN1, AR, SBMA, DM1, DMPK, DM2, CNBP, SCA10, ATXN10, SCA12, PPP2R2B, SCA8, ATXN8OS
Diseases of unstable repeat expansion: mechanisms and common principles.
Gatchel JR, Zoghbi HY.
Nat Rev Genet 6(10):743-55. Review. 2005
125FMR1
Facile FMR1 mRNA structure regulation by interruptions in CGG repeats.
Napierala M, Michalowski D, de Mezer M, Krzyzosiak WJ.
Nucleic Acids Res 33(2):451-63. Print 2005. 2005
126FMR1, FRAXA
New insights into Fragile X syndrome. Relating genotype to phenotype at the molecular level.
Pozdnyakova I, Regan L.
FEBS J 272(3):872-8. 2005
127FMR1, NRF1
The roles of Sp1, Sp3, USF1/USF2 and NRF-1 in the regulation and three-dimensional structure of the Fragile X mental retardation gene promoter.
Kumari D, Gabrielian A, Wheeler D, Usdin K.
Biochem J 386(Pt 2):297-303. 2005
128FMR1, FRAXA
Deletion of FMR1 in Purkinje cells enhances parallel fiber LTD, enlarges spines, and attenuates cerebellar eyelid conditioning in Fragile X syndrome.
Koekkoek SK, Yamaguchi K, Milojkovic BA, Dortland BR, Ruigrok TJ, Maex R, De Graaf W, Smit AE, VanderWerf F, Bakker CE, Willemsen R, Ikeda T, Kakizawa S, Onodera K, Nelson DL, Mientjes E, Joosten M, De Schutter E, Oostra BA, Ito M, De Zeeuw CI.
Neuron 47(3):339-52. 2005
129BCYRN1,FMR1
Fragile X mental retardation protein (FMRP) binds specifically to the brain cytoplasmic RNAs BC1/BC200 via a novel RNA-binding motif.
Zalfa F, Adinolfi S, Napoli I, Kuhn-Holsken E, Urlaub H, Achsel T, Pastore A, Bagni C.
J Biol Chem 280(39):33403-10. Epub 2005 Jul 8. 2005
130FMR1, FMRP
FMRP interferes with the Rac1 pathway and controls actin cytoskeleton dynamics in murine fibroblasts.
Castets, M.; Schaeffer, C.; Bechara, E.; Schenck, A.; Khandjian, E. W.; Luche, S.; Moine, H.; Rabilloud, T.; Mandel, J.-L.; Bardoni, B.
Hum. Molec. Genet. 14: 835-844 2005
131FMR1
Developmentally-programmed FMRP expression in oligodendrocytes: a potential role of FMRP in regulating translation in oligodendroglia progenitors.
Wang H, Ku L, Osterhout DJ, Li W, Ahmadian A, Liang Z, Feng Y.
Hum Mol Genet 13(1):79-89. Epub 2003 Nov 12. 2004
132FMR1
Redistribution of transcription start sites within the FMR1 promoter region with expansion of the downstream CGG-repeat element.
Beilina A, Tassone F, Schwartz PH, Sahota P, Hagerman PJ.
Hum Mol Genet 13(5):543-9. Epub 2004 Jan 13. 2004
133FMR1, FXTAS
Fragile-X-Associated Tremor/Ataxia Syndrome (FXTAS) in Females with the FMR1 Premutation.
Hagerman RJ, Leavitt BR, Farzin F, Jacquemont S, Greco CM, Brunberg JA, Tassone F, Hessl D, Harris SW, Zhang L, Jardini T, Gane LW, Ferranti J, Ruiz L, Leehey MA, Grigsby J, Hagerman PJ.
Am J Hum Genet 74(5):1051-6. Epub 2004 Apr 02. 2004
134FMR1
Occupancy and synergistic activation of the FMR1 promoter by Nrf-1 and Sp1 in vivo.
Smith KT, Coffee B, Reines D.
Hum Mol Genet 13(15):1611-21. Epub 2004 Jun 02. 2004
135FMR1
Biochemical evidence for the association of fragile X mental retardation protein with brain polyribosomal ribonucleoparticles.
Khandjian EW, Huot ME, Tremblay S, Davidovic L, Mazroui R, Bardoni B.
Proc Natl Acad Sci U S A 101(36):13357-62. Epub 2004 Aug 25. 2004
136FMR1, MAP1B
The fragile X protein controls microtubule-associated protein 1B translation and microtubule stability in brain neuron development.
Lu R, Wang H, Liang Z, Ku L, O'donnell WT, Li W, Warren ST, Feng Y.
Proc Natl Acad Sci U S A 101(42):15201-6. Epub 2004 Oct 08. 2004
137FMR1
Fragile X mental retardation protein is necessary for neurotransmitter-activated protein translation at synapses.
Weiler IJ, Spangler CC, Klintsova AY, Grossman AW, Kim SH, Bertaina-Anglade V, Khaliq H, de Vries FE, Lambers FA, Hatia F, Base CK, Greenough WT.
Proc Natl Acad Sci U S A 101(50):17504-9. Epub 2004 Nov 17. 2004
138FMR1
The fragile X mental retardation protein has nucleic acid chaperone properties.
Gabus C, Mazroui R, Tremblay S, Khandjian EW, Darlix JL.
Nucleic Acids Res 32(7):2129-37. Print 2004. 2004
139FMR1
Fragile X mental retardation protein is associated with translating polyribosomes in neuronal cells.
Stefani G, Fraser CE, Darnell JC, Darnell RB.
J Neurosci 24(33):7272-6. 2004
140FMR1, RANBP9
The C terminus of fragile X mental retardation protein interacts with the multi-domain Ran-binding protein in the microtubule-organising centre.
Menon RP, Gibson TJ, Pastore A.
J Mol Biol 343(1):43-53. 2004
141AGO1, DICER1, FMR1, FRAXA
Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway.
Jin P, Zarnescu DC, Ceman S, Nakamoto M, Mowrey J, Jongens TA, Nelson DL, Moses K, Warren ST.
Nat Neurosci 7(2):113-7. Epub 2004 Jan 4. 2004
142BCYRN1, FMR1
The fragile X syndrome protein FMRP associates with BC1 RNA and regulates the translation of specific mRNAs at synapses.
Zalfa F, Giorgi M, Primerano B, Moro A, Di Penta A, Reis S, Oostra B, Bagni C.
Cell 112(3):317-27. 2003
143FMR1, FXTAS
Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates.
Jacquemont S, Hagerman RJ, Leehey M, Grigsby J, Zhang L, Brunberg JA, Greco C, Des Portes V, Jardini T, Levine R, Berry-Kravis E, Brown WT, Schaeffer S, Kissel J, Tassone F, Hagerman PJ.
Am J Hum Genet 72(4):869-78. Epub 2003 Mar 12. 2003
144FMR1
Relationship of deficits of FMR1 gene specific protein with physical phenotype of fragile X males and females in pedigrees: a new perspective.
Loesch DZ, Huggins RM, Bui QM, Taylor AK, Hagerman RJ.
Am J Med Genet 118A(2):127-34. 2003
145FXTAS, FMR1
The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome.
Willemsen R, Hoogeveen-Westerveld M, Reis S, Holstege J, Severijnen LA, Nieuwenhuizen IM, Schrier M, Van Unen L, Tassone F, Hoogeveen AT, Hagerman PJ, Mientjes EJ, Oostra BA.
Hum Mol Genet 12(9):949-59. 2003
146FMR1, NUFIP2
82-FIP, a novel FMRP (fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localization.
Bardoni B, Castets M, Huot ME, Schenck A, Adinolfi S, Corbin F, PastoreA, Khandjian EW, Mandel JL.
Hum Mol Genet 12(14):1689-98. 2003
147FMR1, FXTAS
A cerebellar tremor/ataxia syndrome among fragile X premutation carriers.
Hagerman PJ, Greco CM, Hagerman RJ.
Cytogenet Genome Res 100(1-4):206-12. 2003
148DLG4, FMR1
The fragile X mental retardation protein is required for type-I metabotropic glutamate receptor-dependent translation of PSD-95.
Todd PK, Mack KJ, Malter JS.
Proc Natl Acad Sci U S A 100(24):14374-8. Epub 2003 Nov 12. 2003
149FMR1
The (CGG)n repeat element within the 5' untranslated region of the FMR1 message provides both positive and negative cis effects on in vivo translation of a downstream reporter.
Chen LS, Tassone F, Sahota P, Hagerman PJ.
Hum Mol Genet 12(23):3067-74. Epub 2003 Sep 30. 2003
150FMR1
Fragile X Mental Retardation protein determinants required for its association with polyribosomal mRNPs.
Mazroui R, Huot ME, Tremblay S, Boilard N, Labelle Y, Khandjian EW.
Hum Mol Genet 12(23):3087-96. Epub 2003 Oct 07. 2003
151HBS1L, FMR1
The fragile X mental retardation protein FMRP binds elongation factor 1A mRNA and negatively regulates its translation in vivo.
Sung YJ, Dolzhanskaya N, Nolin SL, Brown T, Currie JR, Denman RB.
J Biol Chem 278(18):15669-78. Epub 2003 Feb 19. 2003
152FMR1
The N-terminus of the fragile X mental retardation protein contains a novel domain involved in dimerization and RNA binding.
Adinolfi S, Ramos A, Martin SR, Dal Piaz F, Pucci P, Bardoni B, Mandel JL, Pastore A.
Biochemistry 42(35):10437-44. 2003
153FMR1, FXPOF
Female carriers of fragile X premutations have no increased risk for additional diseases other than premature ovarian failure.
Hundscheid RD, Smits AP, Thomas CM, Kiemeney LA, Braat DD.
Am J Med Genet A 117A(1):6-9.PMID: 12548733 2003
154FMR1
Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range.
Sullivan AK, Crawford DC, Scott EH, Leslie ML, Sherman SL.
Am J Hum Genet 70(6):1532-44. 2002
155FMR1, FRAXA
Advances in understanding of fragile X pathogenesis and FMRP function, and in identification of X linked mental retardation genes.
Bardoni B, Mandel JL.
Curr Opin Genet Dev 12(3):284-93. Review. 2002
156FMR1
Transport of fragile X mental retardation protein via granules in neurites of PC12 cells.
De Diego Otero Y, Severijnen LA, van Cappellen G, Schrier M, Oostra B, Willemsen R.
Mol Cell Biol 22(23):8332-41. 2002
157FMR1
Evidence that fragile X mental retardation protein is a negative regulator of translation.
Laggerbauer B, Ostareck D, Keidel EM, Ostareck-Lederer A, Fischer U.
Hum Mol Genet 10(4):329-38. 2001
158CYFIP1, CYFIP2, FMR1
A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P.
Schenck A, Bardoni B, Moro A, Bagni C, Mandel JL.
Proc Natl Acad Sci U S A 98(15):8844-9. 2001
159FMR1
Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers.
Kenneson A, Zhang F, Hagedorn CH, Warren ST.
Hum Mol Genet 10(14):1449-54. 2001
160ANXA1, FMR1
Annexin-1 is abnormally expressed in fragile X syndrome: two-dimensional electrophoresis study in lymphocytes.
Sun HT, Cohen S, Kaufmann WE.
Am J Med Genet 103(1):81-90. 2001
161FMR1, FRAXA
Sequence variation within the fragile X locus.
Mathews DJ, Kashuk C, Brightwell G, Eichler EE, Chakravarti A.
Genome Res 11(8):1382-91. 2001
162FMR1
Fragile x syndrome: a model of gene-brain-behavior relationships.
Hagerman RJ, Hagerman PJ.
Mol Genet Metab 74(1-2):89-97. No abstract available. 2001
163BASP1, FMR1, ID3, MAP1B, TRAPPC10, UNC13B
Fragile X mental retardation protein targets G quartet mRNAs important for neuronal function.
Darnell JC, Jensen KB, Jin P, Brown V, Warren ST, Darnell RB.
Cell 107(4):489-99. 2001
164AREL1, CSNK1G2, FMR1, SORBS2, TP63, TUT4
RNA targets of the fragile X protein.
Kaytor MD, Orr HT.
Cell 107(5):555-7. Review. 2001
165FMR1, FXR1, FXR1PS, FXR2
Comparative genomic sequence analysis of the FXR gene family: FMR1, FXR1, and FXR2.
Kirkpatrick LL, McIlwain KA, Nelson DL.
Genomics 78(3):169-77. 2001
166FMR1
The fragile X gene and its function.
Oostra BA, Chiurazzi P.
Clin Genet 60(6):399-408. 2001
167FMR1
Identification of mouse YB1/p50 as a component of the FMRP-associated mRNP particle.
Ceman S, Nelson R, Warren ST.
Biochem Biophys Res Commun. 279(3):904-8. 2000
168FMR1, FXR1, FXR2
Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations.
Tamanini F, et al.
Hum Mol Genet 8(5):863-9. 1999
169FMR1, FXR1
Alternative splicing in the murine and human FXR1 genes.
Kirkpatrick LL, et al.
Genomics 59(2):193-202. 1999
170FMR1
FISH-detected delay in replication timing of mutated FMR1 alleles on both active and inactive X-chromosomes.
Yeshaya J, et al.
Hum Genet 105(1-2):86-97. 1999
171FMR1
FMR1 CGG-repeat instability in single sperm and lymphocytes of fragile-X premutation males.
Nolin SL, et al.
Am J Hum Genet 65(3):680-8 1999
172FMR1
Fully expanded FMR1 CGG repeats exhibit a length- and differentiation-dependent instability in cell hybrids that is independent of DNA methylation.
Burman RW, et al.
Hum Mol Genet 8(12):2293-2302 1999
173FMR1
Synergistic effect of histone hyperacetylation and DNA demethylation in the reactivation of the FMR1 gene.
Chiurazzi P, et al.
Hum Mol Genet 8(12):2317-2323 1999
174AFM, FMR1, HMGB1, MYLK, SFTPC, SHBG
Frequent alternative splicing of human genes.
Mironov AA, Fickett JW, Gelfand MS.
Genome Res 9(12):1288-93 1999
175FMR1, FRAXA
Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in the FMR1 gene in eight fragile X patients.
Grasso M, Faravelli F, Nigro CL, Chiurazzi P, Sperandeo MP, Argusti A, Pomponi MG, Lecora M, Sebastio GF, Perroni L, Andria G, Neri G, Bricarelli FD.
Am J Med Genet 85(3):311-6. 1999
176FMR1, NUFIP1
A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein.
Bardoni B, Schenck A, Mandel JL.
Hum Mol Genet 8(13):2557-66. 1999
177OPHN1, FGD1, FMR1, GDI1, PAK3, RPS6KA3, MRX1
Breakthroughs in molecular and cellular mechanisms underlying X-linked mental retardation.
Chelly J.
Hum Mol Genet 8(10):1833-8. Review. 1999
178FMR1, FRAXA
Mosaicism for full mutation and normal-sized allele of the FMR1 gene : a new case.
Orrico A, et al.
Am J Med Genet 78 : 341-344. 1998
179FMR1
Re-examination of factors associated with expansion of CGG repeats using a single nucleotide polymorphism in FMR1.
Gunter C, et al.
Hum Mol Genet 7 : 1935-1946. 1998
180ADRBK1, AR, ZFHX3, CACNA1A, CAPNS1, FOXE1, FOXF1, FMR1, AFF2, HCN1, NRXN1, CA10
CCG repeats in cDNAs from human brain.
Kleiderlein JJ, Nisson PE, Jessee J, Li WB, Becker KG, Derby ML, Ross CA, Margolis RL.
Hum Genet 103(6):666-73. 1998
181AFF2, FMR1, FXPOF
Studies of FRAXA and FRAXE in women with premature ovarian failure.
Murray A, Webb J, Grimley S, Conway G, Jacobs P.
J Med Genet 35(8):637-40. 1998
182FMR1
Screening of proteins interact with FMR1 by yeast two-hybrid system
Chen Y, Sittler A, Yu M, Bardoni B, Wu G.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 20(3):173-8. 1998
183FMR1, FRAXA
Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation.
Weiler IJ, et al.
Proc Natl Acad Sci U S A 94 : 5395-5400. 1997
184FMR1
Characterization of FMR1 promoter elements by in vivo-footprinting analysis.
Schwemmle S, de Graaff E, Deissler H, Glaser D, Wohrle D, Kennerknecht I, Just W, Oostra BA, Doerfler W, Vogel W, Steinbach P.
Am J Hum Genet 60(6):1354-62. 1997
185FMR1, FRAXA
Deletions in Xq26.3-q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern.
Wolff DJ, Gustashaw KM, Zurcher V, Ko L, White W, Weiss L, Van Dyke DL, Schwartz S, Willard HF.
Hum Genet 100(2):256-61. 1997
186FMR1, FXR1, FXR2
Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis.
Tamanini F, Willemsen R, van Unen L, Bontekoe C, Galjaard H, Oostra BA, Hoogeveen AT.
Hum Mol Genet 6(8):1315-22. 1997
187FMR1, FRAXA
Novel point mutation within intron 10 of FMR-1 gene causing fragile X syndrome.
Wang YC, Lin ML, Lin SJ, Li YC, Li SY.
Hum Mutat 10(5):393-9. 1997
188FMR1, HNRNPA2B1
Structural and functional characterization of the human FMR1 promoter reveals similarities with the hnRNP-A2 promoter region.
Drouin R, Angers M, Dallaire N, Rose TM, Khandjian EW, Rousseau F.
Hum Mol Genet 6(12):2051-60. 1997
189FMR1, FRAXA
FMRP associates with polyribosomes as an mRNP, and the 1304N mutation of severe fragile X syndrome abolishes this association.
Feng Y, et al.
Mol Cell 1 : 109-118. 1997
190FMR1
Fragile X mental retardation protein: nucleocytoplasmic shuttling and association with somatodendritic ribosomes.
Feng Y, et al.
J Neurosci 17(5):1539-47. 1997
191FMR1
FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association.
Feng Y, et al.
Mol Cell 1(1):109-18. 1997
192FMR1
Alternative splicing of exon 14 determines nuclear or cytoplasmic localisation of FMR1 protein isoforms.
Sittler A, et al.
Hum Mol Genet 5 : 95-102. 1996
193FMR1
The fragile X mental retardation protein is associated with ribosomes.
Khandjian EW, et al.
Nat Genet 12 : 91-93. 1996
194FMR1
Reverse mutation in fragile X syndrome.
Antinolo G, et al.
Am J Hum Genet 58 : 237-239. 1996
195FMR1
Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome.
Eichler EE, et al.
Hum Mol Genet 5 : 319-330. 1996
196IDS, FMR1, MPS2
A 5-megabase familial deletion removes the IDS and FMR-1 genes in a male Hunter patient
Birot AM, et al.
Hum Mutat 7 : 266-268. 1996
197FMR1
FMRP is associated to the ribosomes via RNA.
Tamanini F, et al.
Hum Mol Genet 5 : 809-813. 1996
198FMR1, FRAXA
FMR1 fully expanded mutation with minimal methylation in a high functioning fragile X male.
Wang Z, et al.
J Med Genet 33 : 376-378. 1996
199FRAXA, FMR1
Unexpected inheritance of the (CGG)n trinucleotide expansion in a fragile X syndrome family.
Malzac P, et al.
Eur J Hum Genet 4 : 8-12. 1996
200FMR1, FRAXA
The fragile X mental protein is a ribonucleoprotein containing both nuclear localization and nuclear export signals.
Eberhart DE, et al.
Hum Mol Genet 5 : 1083-1091. 1996
201FMR1
Mosaicism of a microdeletion of 486 bp involving the CGG repeat of the FMR1 gene due to misalignment of GTT tandem repeats at chi-like elements flanking both breakpoints and a full mutation.
Schmucker B, et al.
Hum Genet 98 : 409-414. 1996
202FMR1
Decrease in the CGGn trinucleotide repeat mutation of the fragile X syndrome to normal size range during paternal transmission.
VŠisŠnen ML, et al.
Am J Hum Genet 59 : 540-546. 1996
203FMR1, FRAXA
Familial transmission of the FMR1 CGG repeat.
Nolin SL, et al.
Am J Hum Genet 59 : 1252-1261. 1996
204FMR1
A nuclear role for the Fragile X mental retardation protein.
Fridell RA, et al.
EMBO J 15(19):5408-14. 1996
205FMR1, FXR2
Specific sequences in the fragile X syndrome protein FMR1 and the FXR proteins mediate their binding to 60S ribosomal subunits and the interactions among them.
Siomi MC, Zhang Y, Siomi H, Dreyfuss G.
Mol Cell Biol 16(7):3825-32.PMID: 8668200 1996
206FMR1
Normal phenotype in two brothers with a full FMR1 mutation.
Smeets HJM, et al.
Hum Mol Genet 4 : 2103-2108. 1995
207FMR1
Prevalence of carriers of premutation-size alleles of the FMRI gene-and implications for the population genetics of the fragile X syndrome.
Rousseau F, et al.
Am J Hum Genet 57 : 1006-1018. 1995
208FMR1
Contribution of the FMR1 gene mutation to human intellectual dysfunction.
Reiss AL, et al.
Nat Genet 11 : 331-334. 1995
209FMR1, FRAXA
Expansion of the CGG repeat in fragile X in the FMR1 gene depends on the sex of the offspring.
Loesch DZ, et al.
Am J Hum Genet 57 : 1408-1413. 1995
210FMR1,FXR1
Highly conserved 3' UTR and expression pattern of FXR1 points to a divergent gene regulation of FXR1 and FMR1.
Coy JF, et al.
Hum Mol Genet 4 : 2209-2218. 1995
211FMR1
X inactivation of the FMR1 fragile X mental retardation gene.
Kirchgessner CU, et al.
J Med Genet 32 : 925-929. 1995
212FMR1, FRAXA
Translational suppression by trinucleotide repeat expansion at FMR1.
Feng Y, et al.
Science 268 : 731-734. 1995
213FRAXA, FMR1
An atypical case of fragile X syndrome caused by a deletion that includes the FMRI gene.
Quan F, et al.
Am J Hum Genet 56 : 1042-1051. 1995
214FMR1
Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism.
Quan F, et al.
Hum Mol Genet 4 : 1681-1684. 1995
215FMR1, FRAXA
Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome.
Lugenbeel KA, et al.
Nat Genet 10 : 483-485. 1995
216FMR1
Two new cases of FMRI deletion associated with mental impairment.
Hirst M, et al.
Am J Hum Genet 56 : 67-74. 1995
217FRAXA, FMR1
Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients.
De Graaff E, et al.
Hum Mol Genet 4 : 45-49. 1995
218FMR1, FRAXA, FXR1, FXR2
The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2.
Zhang Y, O'Connor JP, Siomi MC, Srinivasan S, Dutra A, Nussbaum RL, Dreyfuss G.
EMBO J. 14(21):5358-66. 1995
219FMR1, FRAXA
A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome.
Meijer H, et al.
Hum Mol Genet 3 : 615-620. 1994
220FRAXA, FMR1
No mental retardation in a man with 40 % abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations.
Rousseau F, et al.
Hum Mol Genet 3 : 927-930. 1994
221FRAXA, FMR1
Length of uninterrupted CGG repeats determines instability in the FMR1 gene.
Eichler EE, et al.
Nat Genet 8 : 88-94. 1994
222FMR1
A De novo deletion in FMR1 in a patient with developmental delay.
Gu Y, et al.
Hum Mol Genet 3 : 1705-1706. 1994
223FMR1
Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes.
Van den Ouweland AMW, et al.
Hum Mol Genet 3 : 1823-1827. 1994
224EWSR1, FMR1, FXR1, FXR2, FYN, GRB2, HDLBP, HNRNPA1, HNRNPA2B1, NCL, PTBP1, RBMXP1, RBMY1A1, RBMY1A2, RBM3, SF1
Conserved structures and diversity of functions of RNA-binding proteins.
Burd CG, et al.
Science 265 : 615-621. 1994
225FMR1, FRAXA
Essential role for KH domains in RNA binding : impaired RNA binding by amutation in the KH domain of FMR1 that causes fragile X syndrome.
Siomi H, et al.
Cell 77 : 33-39. 1994
226FRAXA, FMR1
Data on the CGG repeat at the fragile X site in the non-retarded Japanese population and family suggest the presence of a subgroup of normal alleles predisposing to mutate.
Arinami T, et al.
Hum Genet 92 : 431-436. 1993
227FMR1
A complex mutable polymorphism located within the fragile X gene.
Zhong N, et al.
Nat Genet 5 : 248-253. 1993
228FMR1, FRAXA
Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population.
Snow K, et al.
Am J Hum Genet 53 : 1217-1228. 1993
229FRAXA, FMR1
Alternative splicing in the fragile X gene FMR1.
Verkerk AJ, et al.
Hum Mol Genet 2 : 399-404. 1993
230FMR1, FXR1
The pre-mRNA binding K protein contains a novel evolutionarily conserved motif.
Siomi H, et al.
Nucleic Acids Res 21 : 1193-1198. 1993
231FRAXA, FMR1
Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion.
Wšhrle D, et al.
Nat Genet 4 : 140-142. 1993
232FMR1
Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain.
Abitbol M, et al.
Nat Genet 4 : 147-152. 1993
233FMR1
Characterization and localization of the FMR-1 gene product associated with fragile X syndrome.
Verheij C, et al.
Nature 363 : 722-724. 1993
234FMR1, FRAXA
Association of fragile X syndrome with delayed replication of the FMR1 gene.
Hansen RS, et al.
Cell 73 : 1403-1409. 1993
235FMR1
Human and murine FMR-1 : alternative splicing and translational initiation downstream of the CGG-repeat.
Ashley CT, et al.
Nat Genet 4 : 244-251. 1993
236FMR1
Fine structure of the human FMR1 gene.
Eichler EE, et al.
Hum Mol Genet 2 : 1147-1153. 1993
237FMR1
The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein.
Siomi H, et al.
Cell 74 : 291-298. 1993
238AR, HTT, DM1, FMR1
Fragile X syndrome unstable element, p(CCG)n, and other simple tandem repeat sequences are binding sites for specific nuclear proteins.
Richards RI, et al.
Hum Mol Genet 2 : 1429-1435. 1993
239FRAXA, FMR1
Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome.
McConkie-Rosell A, et al.
Am J Hum Genet 53 : 800-809. 1993
240FRAXA, FMR1
A point mutation in the FMR-1 gene associated with fragile X mental retardation.
De Boulle K, et al.
Nat Genet 3 : 31-35. 1993
241FMR1
Three families with high expression of a fragile site at Xq27.3, lack of anomalies at the FMR-1 CpG island, and no clear phenotypic association.
Oberle I, et al.
Am J Med Genet 43 : 224-231. 1992
242FMR1
Intragenic probe used for diagnostics in fragile X families.
Verkerk AJMH, et al.
Am J Med Genet 43 : 192-196. 1992
243FRAXA, FMR1
Fragile-X syndrome without CCG amplification has an FMR1 deletion.
Gedeon AK, et al.
Nat Genet 1 : 341-344. 1992
244FRAXA, FMR1
Detection of full fragile X mutation.
Pergolizzi RG, et al.
Lancet 339 : 271-277. 1992
245FRAXA, FMR1
Frequent small amplifications in the FMR-1 gene in fra(X) families : limits to the diagnosis of premutations.
McPherson JN, et al.
J Med Genet 29 : 802-806. 1992
246FRAXA, FMR1
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.
Verkerk AJMH, et al.
Cell 65 : 905-914. 1991
247FMR1
Absence of expression of the FMR-1 gene in fragile X syndrome.
Pieretti M, et al.
Cell 66 : 817-822. 1991
248FMR1
Fragile X syndrome : genetic localization by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site.
Richards RI, et al.
J Med Genet 28 : 818-823. 1991