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Transcription-associated R-loop formation across the human FMR1 CGG-repeat region.

Loomis EW, Sanz LA, Chédin F, Hagerman PJ.

PLoS Genet. 2014 Apr 17;10(4):e1004294. doi: 10.1371/journal.pgen.1004294. eCollection 2014 Apr.


Sequencing the unsequenceable: expanded CGG-repeat alleles of the fragile X gene.

Loomis EW, Eid JS, Peluso P, Yin J, Hickey L, Rank D, McCalmon S, Hagerman RJ, Tassone F, Hagerman PJ.

Genome Res. 2013 Jan;23(1):121-8. doi: 10.1101/gr.141705.112. Epub 2012 Oct 11.


FMR1 CGG repeat lengths mediate different regulation of reporter gene expression in comparative transient and locus specific integration assays.

Sølvsten C, Nielsen AL.

Gene. 2011 Oct 15;486(1-2):15-22. doi: 10.1016/j.gene.2011.06.034. Epub 2011 Jul 13.


Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats.

Loesch DZ, Bui QM, Huggins RM, Mitchell RJ, Hagerman RJ, Tassone F.

J Med Genet. 2007 Mar;44(3):200-4. Epub 2006 Aug 11.


Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development.

Cunningham CL, Martínez Cerdeño V, Navarro Porras E, Prakash AN, Angelastro JM, Willemsen R, Hagerman PJ, Pessah IN, Berman RF, Noctor SC.

Hum Mol Genet. 2011 Jan 1;20(1):64-79. doi: 10.1093/hmg/ddq432. Epub 2010 Oct 8.


Fragile X-associated tremor/ataxia syndrome: influence of the FMR1 gene on motor fiber tracts in males with normal and premutation alleles.

Wang JY, Hessl D, Schneider A, Tassone F, Hagerman RJ, Rivera SM.

JAMA Neurol. 2013 Aug;70(8):1022-9. doi: 10.1001/jamaneurol.2013.2934.


The role of AGG interruptions in the transcription of FMR1 premutation alleles.

Yrigollen CM, Tassone F, Durbin-Johnson B, Tassone F.

PLoS One. 2011;6(7):e21728. doi: 10.1371/journal.pone.0021728. Epub 2011 Jul 19.


Initiation of translation of the FMR1 mRNA Occurs predominantly through 5'-end-dependent ribosomal scanning.

Ludwig AL, Hershey JW, Hagerman PJ.

J Mol Biol. 2011 Mar 18;407(1):21-34. doi: 10.1016/j.jmb.2011.01.006. Epub 2011 Jan 12.


Epigenetic characterization of the FMR1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of fragile X syndrome.

Sheridan SD, Theriault KM, Reis SA, Zhou F, Madison JM, Daheron L, Loring JF, Haggarty SJ.

PLoS One. 2011;6(10):e26203. doi: 10.1371/journal.pone.0026203. Epub 2011 Oct 12.


Transcription of the FMR1 gene in individuals with fragile X syndrome.

Tassone F, Hagerman RJ, Chamberlain WD, Hagerman PJ.

Am J Med Genet. 2000 Fall;97(3):195-203.


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. 2005 Dec 1;14(23):3661-71. Epub 2005 Oct 20.


Histone deacetylases suppress CGG repeat-induced neurodegeneration via transcriptional silencing in models of fragile X tremor ataxia syndrome.

Todd PK, Oh SY, Krans A, Pandey UB, Di Prospero NA, Min KT, Taylor JP, Paulson HL.

PLoS Genet. 2010 Dec 9;6(12):e1001240. doi: 10.1371/journal.pgen.1001240.


CGG-repeat length threshold for FMR1 RNA pathogenesis in a cellular model for FXTAS.

Hoem G, Raske CR, Garcia-Arocena D, Tassone F, Sanchez E, Ludwig AL, Iwahashi CK, Kumar M, Yang JE, Hagerman PJ.

Hum Mol Genet. 2011 Jun 1;20(11):2161-70. doi: 10.1093/hmg/ddr101. Epub 2011 Mar 9.


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. 2004 Mar 1;13(5):543-9. Epub 2004 Jan 13.


Nucleosomal occupancy and CGG repeat expansion: a comparative analysis of triplet repeat region from mouse and human fragile X mental retardation gene 1.

Datta S, Alam MP, Majumdar SS, Mehta AK, Maiti S, Wadhwa N, Brahmachari V.

Chromosome Res. 2011 May;19(4):445-55. doi: 10.1007/s10577-011-9206-7. Epub 2011 Apr 16.


Comprehensive analysis of the transcriptional landscape of the human FMR1 gene reveals two new long noncoding RNAs differentially expressed in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome.

Pastori C, Peschansky VJ, Barbouth D, Mehta A, Silva JP, Wahlestedt C.

Hum Genet. 2014 Jan;133(1):59-67. doi: 10.1007/s00439-013-1356-6. Epub 2013 Sep 5.


Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation.

Brouwer JR, Mientjes EJ, Bakker CE, Nieuwenhuizen IM, Severijnen LA, Van der Linde HC, Nelson DL, Oostra BA, Willemsen R.

Exp Cell Res. 2007 Jan 15;313(2):244-53. Epub 2006 Oct 13.


Similar prevalence of expanded CGG repeat lengths in the fragile X mental retardation I gene among infertile women and among women with proven fertility: a prospective study.

De Geyter C, M'Rabet N, De Geyter J, Zürcher S, Moffat R, Bösch N, Zhang H, Heinimann K.

Genet Med. 2014 May;16(5):374-8. doi: 10.1038/gim.2013.146. Epub 2013 Oct 10.


Unstable mutations in the FMR1 gene and the phenotypes.

Loesch D, Hagerman R.

Adv Exp Med Biol. 2012;769:78-114. Review.

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