Connection

DAVID NELSON to Fragile X Syndrome

This is a "connection" page, showing publications DAVID NELSON has written about Fragile X Syndrome.
Connection Strength

7.261
  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: 0.677
  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: 0.434
  3. CGG repeats in RNA modulate expression of TDP-43 in mouse and fly models of fragile X tremor ataxia syndrome. Hum Mol Genet. 2014 Nov 15; 23(22):5906-15.
    View in: PubMed
    Score: 0.419
  4. Ectopic expression of CGG containing mRNA is neurotoxic in mammals. Hum Mol Genet. 2009 Jul 01; 18(13):2443-51.
    View in: PubMed
    Score: 0.293
  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: 0.259
  6. FMR2 function: insight from a mouse knockout model. Cytogenet Genome Res. 2003; 100(1-4):129-39.
    View in: PubMed
    Score: 0.189
  7. Instability of a premutation-sized CGG repeat in FMR1 YAC transgenic mice. Genomics. 2002 Oct; 80(4):423-32.
    View in: PubMed
    Score: 0.186
  8. 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: 0.181
  9. Impaired conditioned fear and enhanced long-term potentiation in Fmr2 knock-out mice. J Neurosci. 2002 Apr 01; 22(7):2753-63.
    View in: PubMed
    Score: 0.179
  10. Functional consequences of postnatal interventions in a mouse model of Fragile X syndrome. Neurobiol Dis. 2022 01; 162:105577.
    View in: PubMed
    Score: 0.176
  11. 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: 0.170
  12. (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: 0.157
  13. 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: 0.156
  14. Metabolic pathways modulate the neuronal toxicity associated with fragile X-associated tremor/ataxia syndrome. Hum Mol Genet. 2019 03 15; 28(6):980-991.
    View in: PubMed
    Score: 0.145
  15. 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: 0.121
  16. Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. Nat Genet. 1996 May; 13(1):109-13.
    View in: PubMed
    Score: 0.119
  17. 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: 0.118
  18. 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: 0.113
  19. The fragile X syndromes. Semin Cell Biol. 1995 Feb; 6(1):5-11.
    View in: PubMed
    Score: 0.109
  20. Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE. Nat Genet. 1994 Nov; 8(3):229-35.
    View in: PubMed
    Score: 0.107
  21. A de novo deletion in FMR1 in a patient with developmental delay. Hum Mol Genet. 1994 Sep; 3(9):1705-6.
    View in: PubMed
    Score: 0.106
  22. Fine structure of the human FMR1 gene. Hum Mol Genet. 1994 Apr; 3(4):684-5.
    View in: PubMed
    Score: 0.103
  23. Frequency and stability of the fragile X premutation. Hum Mol Genet. 1994 Mar; 3(3):393-8.
    View in: PubMed
    Score: 0.102
  24. Advances in molecular analysis of fragile X syndrome. JAMA. 1994 Feb 16; 271(7):536-42.
    View in: PubMed
    Score: 0.102
  25. Genome-wide alteration of 5-hydroxymethylcytosine in a mouse model of fragile X-associated tremor/ataxia syndrome. Hum Mol Genet. 2014 Feb 15; 23(4):1095-107.
    View in: PubMed
    Score: 0.100
  26. Alternative splicing in the fragile X gene FMR1. Hum Mol Genet. 1993 Aug; 2(8):1348.
    View in: PubMed
    Score: 0.098
  27. Trinucleotide repeat instability: when and where? Nat Genet. 1993 Jun; 4(2):107-8.
    View in: PubMed
    Score: 0.097
  28. Homeostatic responses fail to correct defective amygdala inhibitory circuit maturation in fragile X syndrome. J Neurosci. 2013 Apr 24; 33(17):7548-58.
    View in: PubMed
    Score: 0.097
  29. Alternative splicing in the fragile X gene FMR1. Hum Mol Genet. 1993 Apr; 2(4):399-404.
    View in: PubMed
    Score: 0.096
  30. The unstable repeats--three evolving faces of neurological disease. Neuron. 2013 Mar 06; 77(5):825-43.
    View in: PubMed
    Score: 0.096
  31. Triplet repeat mutations in human disease. Science. 1992 May 08; 256(5058):784-9.
    View in: PubMed
    Score: 0.090
  32. 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: 0.090
  33. 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: 0.089
  34. Absence of expression of the FMR-1 gene in fragile X syndrome. Cell. 1991 Aug 23; 66(4):817-22.
    View in: PubMed
    Score: 0.086
  35. 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
  36. 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: 0.071
  37. Fragile X-related proteins regulate mammalian circadian behavioral rhythms. Am J Hum Genet. 2008 Jul; 83(1):43-52.
    View in: PubMed
    Score: 0.069
  38. 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
  39. 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: 0.065
  40. 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
  41. 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
  42. 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: 0.057
  43. 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: 0.053
  44. Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway. Nat Neurosci. 2004 Feb; 7(2):113-7.
    View in: PubMed
    Score: 0.051
  45. Cytogenetic analysis of obsessive-compulsive disorder (OCD): identification of a FRAXE fragile site. Am J Med Genet A. 2003 Apr 01; 118A(1):25-8.
    View in: PubMed
    Score: 0.048
  46. 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: 0.045
  47. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell. 1991 Dec 20; 67(6):1047-58.
    View in: PubMed
    Score: 0.044
  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: 0.042
  49. The fragile X-related proteins FXR1P and FXR2P contain a functional nucleolar-targeting signal equivalent to the HIV-1 regulatory proteins. Hum Mol Genet. 2000 Jun 12; 9(10):1487-93.
    View in: PubMed
    Score: 0.040
  50. 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: 0.037
  51. Interruptions in the triplet repeats of SCA1 and FRAXA reduce the propensity and complexity of slipped strand DNA (S-DNA) formation. Biochemistry. 1998 Feb 24; 37(8):2701-8.
    View in: PubMed
    Score: 0.034
  52. Predisposition to the fragile X syndrome in Jews of Tunisian descent is due to the absence of AGG interruptions on a rare Mediterranean haplotype. Am J Hum Genet. 1997 Jan; 60(1):103-12.
    View in: PubMed
    Score: 0.031
  53. 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: 0.030
  54. 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
  55. FMR1 in global populations. Am J Hum Genet. 1996 Mar; 58(3):513-22.
    View in: PubMed
    Score: 0.029
  56. Learning-disabled males with a fragile X CGG expansion in the upper premutation size range. Pediatrics. 1996 Jan; 97(1):122-6.
    View in: PubMed
    Score: 0.029
  57. 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: 0.029
  58. 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: 0.028
  59. The fragile X premutation in carriers and its effect on mutation size in offspring. Am J Hum Genet. 1995 May; 56(5):1147-55.
    View in: PubMed
    Score: 0.028
  60. 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: 0.027
  61. Fragile X syndrome in a normal IQ male with learning and emotional problems. J Am Acad Child Adolesc Psychiatry. 1994 Nov-Dec; 33(9):1316-21.
    View in: PubMed
    Score: 0.027
  62. 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: 0.027
  63. 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
  64. Reliability of diagnostic assessment of normal and premutation status in the fragile X syndrome using DNA testing. Am J Med Genet. 1994 Jul 15; 51(4):339-45.
    View in: PubMed
    Score: 0.026
  65. Robust amplification and ethidium-visible detection of the fragile X syndrome CGG repeat using Pfu polymerase. Am J Med Genet. 1994 Jul 15; 51(4):522-6.
    View in: PubMed
    Score: 0.026
  66. Trinucleotide repeat expansions in neurological disease. Curr Opin Neurobiol. 1993 Oct; 3(5):752-9.
    View in: PubMed
    Score: 0.025
  67. High resolution methylation analysis of the FMR1 gene trinucleotide repeat region in fragile X syndrome. Hum Mol Genet. 1993 Oct; 2(10):1659-65.
    View in: PubMed
    Score: 0.025
  68. Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG-repeat. Nat Genet. 1993 Jul; 4(3):244-51.
    View in: PubMed
    Score: 0.024
  69. Direct versus indirect molecular diagnosis of fragile X mental retardation in 40 German families at risk. J Med Genet. 1993 Mar; 30(3):193-7.
    View in: PubMed
    Score: 0.024
  70. 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: 0.024
  71. Frequent small amplifications in the FMR-1 gene in fra(X) families: limits to the diagnosis of 'premutations'. J Med Genet. 1992 Nov; 29(11):802-6.
    View in: PubMed
    Score: 0.023
  72. DNA methylation represses FMR-1 transcription in fragile X syndrome. Hum Mol Genet. 1992 Sep; 1(6):397-400.
    View in: PubMed
    Score: 0.023
  73. Intragenic probe used for diagnostics in fragile X families. Am J Med Genet. 1992 Apr 15-May 1; 43(1-2):192-6.
    View in: PubMed
    Score: 0.022
  74. Characterization of a highly polymorphic dinucleotide repeat 150 KB proximal to the fragile X site. Am J Med Genet. 1992 Apr 15-May 1; 43(1-2):237-43.
    View in: PubMed
    Score: 0.022
  75. 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: 0.022
  76. 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: 0.014
  77. Knockout mouse model for Fxr2: a model for mental retardation. Hum Mol Genet. 2002 Mar 01; 11(5):487-98.
    View in: PubMed
    Score: 0.011
  78. 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
  79. PCR amplification and analysis of yeast artificial chromosomes. Genomics. 1992 Aug; 13(4):1303-6.
    View in: PubMed
    Score: 0.006
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.