Connection

DAVID NELSON to Fragile X Mental Retardation Protein

This is a "connection" page, showing publications DAVID NELSON has written about Fragile X Mental Retardation Protein.
  1. Ectopic expression of CGG-repeats alters ovarian response to gonadotropins and leads to infertility in a murine FMR1 premutation model. Hum Mol Genet. 2021 05 29; 30(10):923-938.
    View in: PubMed
    Score: 0.673
  2. The Fragile X proteins Fmrp and Fxr2p cooperate to regulate glucose metabolism in mice. Hum Mol Genet. 2015 Apr 15; 24(8):2175-84.
    View in: PubMed
    Score: 0.432
  3. Altered hippocampal synaptic plasticity in the FMR1 gene family knockout mouse models. J Neurophysiol. 2009 May; 101(5):2572-80.
    View in: PubMed
    Score: 0.288
  4. The Drosophila FMRP and LARK RNA-binding proteins function together to regulate eye development and circadian behavior. J Neurosci. 2008 Oct 08; 28(41):10200-5.
    View in: PubMed
    Score: 0.280
  5. Argonaute-2-dependent rescue of a Drosophila model of FXTAS by FRAXE premutation repeat. Hum Mol Genet. 2007 Oct 01; 16(19):2326-32.
    View in: PubMed
    Score: 0.257
  6. Intercepting IRE1 kinase-FMRP signaling prevents atherosclerosis progression. EMBO Mol Med. 2022 04 07; 14(4):e15344.
    View in: PubMed
    Score: 0.177
  7. Simultaneous Screening of the FRAXA and FRAXE Loci for Rapid Detection of FMR1 CGG and/or AFF2 CCG Repeat Expansions by Triplet-Primed PCR. J Mol Diagn. 2021 08; 23(8):941-951.
    View in: PubMed
    Score: 0.169
  8. Deletion of Fmr1 from Forebrain Excitatory Neurons Triggers Abnormal Cellular, EEG, and Behavioral Phenotypes in the Auditory Cortex of a Mouse Model of Fragile X Syndrome. Cereb Cortex. 2020 03 14; 30(3):969-988.
    View in: PubMed
    Score: 0.155
  9. Selective Deletion of Astroglial FMRP Dysregulates Glutamate Transporter GLT1 and Contributes to Fragile X Syndrome Phenotypes In Vivo. J Neurosci. 2016 07 06; 36(27):7079-94.
    View in: PubMed
    Score: 0.120
  10. The GABAA receptor is an FMRP target with therapeutic potential in fragile X syndrome. Cell Cycle. 2015; 14(18):2985-95.
    View in: PubMed
    Score: 0.108
  11. AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome. Genet Med. 2012 Aug; 14(8):729-36.
    View in: PubMed
    Score: 0.089
  12. FXR1P but not FMRP regulates the levels of mammalian brain-specific microRNA-9 and microRNA-124. J Neurosci. 2011 Sep 28; 31(39):13705-9.
    View in: PubMed
    Score: 0.086
  13. Ablation of Fmrp in adult neural stem cells disrupts hippocampus-dependent learning. Nat Med. 2011 May; 17(5):559-65.
    View in: PubMed
    Score: 0.084
  14. Ultrastructural analysis of the functional domains in FMRP using primary hippocampal mouse neurons. Neurobiol Dis. 2009 Aug; 35(2):241-50.
    View in: PubMed
    Score: 0.073
  15. Ectopic expression of CGG containing mRNA is neurotoxic in mammals. Hum Mol Genet. 2009 Jul 01; 18(13):2443-51.
    View in: PubMed
    Score: 0.073
  16. Reversal of sensorimotor gating abnormalities in Fmr1 knockout mice carrying a human Fmr1 transgene. Behav Neurosci. 2008 Dec; 122(6):1371-7.
    View in: PubMed
    Score: 0.071
  17. Social behavior in Fmr1 knockout mice carrying a human FMR1 transgene. Behav Neurosci. 2008 Jun; 122(3):710-5.
    View in: PubMed
    Score: 0.068
  18. Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice. Neurobiol Dis. 2008 Jul; 31(1):127-32.
    View in: PubMed
    Score: 0.068
  19. Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation. Am J Med Genet A. 2007 Jun 15; 143A(12):1358-65.
    View in: PubMed
    Score: 0.064
  20. Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation. Exp Cell Res. 2007 Jan 15; 313(2):244-53.
    View in: PubMed
    Score: 0.061
  21. Audiogenic seizure susceptibility is reduced in fragile X knockout mice after introduction of FMR1 transgenes. Exp Neurol. 2007 Jan; 203(1):233-40.
    View in: PubMed
    Score: 0.061
  22. Exaggerated behavioral phenotypes in Fmr1/Fxr2 double knockout mice reveal a functional genetic interaction between Fragile X-related proteins. Hum Mol Genet. 2006 Jun 15; 15(12):1984-94.
    View in: PubMed
    Score: 0.059
  23. The generation of a conditional Fmr1 knock out mouse model to study Fmrp function in vivo. Neurobiol Dis. 2006 Mar; 21(3):549-55.
    View in: PubMed
    Score: 0.057
  24. Fxr1 knockout mice show a striated muscle phenotype: implications for Fxr1p function in vivo. Hum Mol Genet. 2004 Jul 01; 13(13):1291-302.
    View in: PubMed
    Score: 0.052
  25. Instability of a premutation-sized CGG repeat in FMR1 YAC transgenic mice. Genomics. 2002 Oct; 80(4):423-32.
    View in: PubMed
    Score: 0.046
  26. Identification of PSMB5 as a genetic modifier of fragile X-associated tremor/ataxia syndrome. Proc Natl Acad Sci U S A. 2022 05 31; 119(22):e2118124119.
    View in: PubMed
    Score: 0.045
  27. Functional consequences of postnatal interventions in a mouse model of Fragile X syndrome. Neurobiol Dis. 2022 01; 162:105577.
    View in: PubMed
    Score: 0.044
  28. Comparative genomic sequence analysis of the FXR gene family: FMR1, FXR1, and FXR2. Genomics. 2001 Dec; 78(3):169-77.
    View in: PubMed
    Score: 0.044
  29. (Over)correction of FMR1 deficiency with YAC transgenics: behavioral and physical features. Hum Mol Genet. 2000 May 01; 9(8):1145-59.
    View in: PubMed
    Score: 0.039
  30. Alternative splicing in the murine and human FXR1 genes. Genomics. 1999 Jul 15; 59(2):193-202.
    View in: PubMed
    Score: 0.037
  31. Genetic variation and evolutionary stability of the FMR1 CGG repeat in six closed human populations. Am J Med Genet. 1996 Jul 12; 64(1):220-5.
    View in: PubMed
    Score: 0.030
  32. Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome. Hum Mol Genet. 1996 Mar; 5(3):319-30.
    View in: PubMed
    Score: 0.029
  33. Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptions. Hum Mol Genet. 1995 Dec; 4(12):2199-208.
    View in: PubMed
    Score: 0.029
  34. Evolution of the cryptic FMR1 CGG repeat. Nat Genet. 1995 Nov; 11(3):301-8.
    View in: PubMed
    Score: 0.029
  35. Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome. Nat Genet. 1995 Aug; 10(4):483-5.
    View in: PubMed
    Score: 0.028
  36. The fragile X syndromes. Semin Cell Biol. 1995 Feb; 6(1):5-11.
    View in: PubMed
    Score: 0.027
  37. MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes. Eur J Hum Genet. 2015 Jun; 23(6):781-9.
    View in: PubMed
    Score: 0.027
  38. Length of uninterrupted CGG repeats determines instability in the FMR1 gene. Nat Genet. 1994 Sep; 8(1):88-94.
    View in: PubMed
    Score: 0.026
  39. Fine structure of the human FMR1 gene. Hum Mol Genet. 1994 Apr; 3(4):684-5.
    View in: PubMed
    Score: 0.026
  40. Advances in molecular analysis of fragile X syndrome. JAMA. 1994 Feb 16; 271(7):536-42.
    View in: PubMed
    Score: 0.025
  41. Alternative splicing in the fragile X gene FMR1. Hum Mol Genet. 1993 Aug; 2(8):1348.
    View in: PubMed
    Score: 0.024
  42. Chemical screen reveals small molecules suppressing fragile X premutation rCGG repeat-mediated neurodegeneration in Drosophila. Hum Mol Genet. 2012 May 01; 21(9):2068-75.
    View in: PubMed
    Score: 0.022
  43. AFQ056, a new mGluR5 antagonist for treatment of fragile X syndrome. Neurobiol Dis. 2011 Jun; 42(3):311-7.
    View in: PubMed
    Score: 0.021
  44. RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS. Neuron. 2007 Aug 16; 55(4):565-71.
    View in: PubMed
    Score: 0.016
  45. Deletion of FMR1 in Purkinje cells enhances parallel fiber LTD, enlarges spines, and attenuates cerebellar eyelid conditioning in Fragile X syndrome. Neuron. 2005 Aug 04; 47(3):339-52.
    View in: PubMed
    Score: 0.014
  46. High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression. Am J Med Genet. 1994 Jul 15; 51(4):298-308.
    View in: PubMed
    Score: 0.013
  47. Drosophila fragile X protein, DFXR, regulates neuronal morphology and function in the brain. Neuron. 2002 Jun 13; 34(6):961-72.
    View in: PubMed
    Score: 0.011
  48. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell. 1991 May 31; 65(5):905-14.
    View in: PubMed
    Score: 0.011
  49. Reduced mRNA for G3BP in fragile X cells: evidence of FMR1 gene regulation. Am J Med Genet. 1999 May 28; 84(3):268-71.
    View in: PubMed
    Score: 0.009
  50. Re-examination of factors associated with expansion of CGG repeats using a single nucleotide polymorphism in FMR1. Hum Mol Genet. 1998 Nov; 7(12):1935-46.
    View in: PubMed
    Score: 0.009
  51. Large domains of apparent delayed replication timing associated with triplet repeat expansion at FRAXA and FRAXE. Am J Hum Genet. 1996 Aug; 59(2):407-16.
    View in: PubMed
    Score: 0.008
  52. FMR1 in global populations. Am J Hum Genet. 1996 Mar; 58(3):513-22.
    View in: PubMed
    Score: 0.007
  53. Anomalous rapid electrophoretic mobility of DNA containing triplet repeats associated with human disease genes. Biochemistry. 1995 Dec 12; 34(49):16125-31.
    View in: PubMed
    Score: 0.007
  54. An n-allele model for progressive amplification in the FMR1 locus. Proc Natl Acad Sci U S A. 1995 May 23; 92(11):4833-7.
    View in: PubMed
    Score: 0.007
  55. Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes. Hum Mol Genet. 1994 Oct; 3(10):1823-7.
    View in: PubMed
    Score: 0.007
  56. Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome. Nat Genet. 1993 Jan; 3(1):36-43.
    View in: PubMed
    Score: 0.006
  57. DNA methylation represses FMR-1 transcription in fragile X syndrome. Hum Mol Genet. 1992 Sep; 1(6):397-400.
    View in: PubMed
    Score: 0.006
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