DAVID NELSON to Fragile X Syndrome
This is a "connection" page, showing publications DAVID NELSON has written about Fragile X Syndrome.
Connection Strength
7.260
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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.
Score: 0.677
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The Fragile X proteins Fmrp and Fxr2p cooperate to regulate glucose metabolism in mice. Hum Mol Genet. 2015 Apr 15; 24(8):2175-84.
Score: 0.434
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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.
Score: 0.419
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Ectopic expression of CGG containing mRNA is neurotoxic in mammals. Hum Mol Genet. 2009 Jul 01; 18(13):2443-51.
Score: 0.292
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Argonaute-2-dependent rescue of a Drosophila model of FXTAS by FRAXE premutation repeat. Hum Mol Genet. 2007 Oct 01; 16(19):2326-32.
Score: 0.259
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FMR2 function: insight from a mouse knockout model. Cytogenet Genome Res. 2003; 100(1-4):129-39.
Score: 0.189
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Instability of a premutation-sized CGG repeat in FMR1 YAC transgenic mice. Genomics. 2002 Oct; 80(4):423-32.
Score: 0.186
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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.
Score: 0.181
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Impaired conditioned fear and enhanced long-term potentiation in Fmr2 knock-out mice. J Neurosci. 2002 Apr 01; 22(7):2753-63.
Score: 0.179
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Functional consequences of postnatal interventions in a mouse model of Fragile X syndrome. Neurobiol Dis. 2022 01; 162:105577.
Score: 0.175
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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.
Score: 0.170
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(Over)correction of FMR1 deficiency with YAC transgenics: behavioral and physical features. Hum Mol Genet. 2000 May 01; 9(8):1145-59.
Score: 0.157
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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.
Score: 0.156
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Metabolic pathways modulate the neuronal toxicity associated with fragile X-associated tremor/ataxia syndrome. Hum Mol Genet. 2019 03 15; 28(6):980-991.
Score: 0.145
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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.
Score: 0.121
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Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. Nat Genet. 1996 May; 13(1):109-13.
Score: 0.119
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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.
Score: 0.118
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Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome. Nat Genet. 1995 Aug; 10(4):483-5.
Score: 0.113
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The fragile X syndromes. Semin Cell Biol. 1995 Feb; 6(1):5-11.
Score: 0.109
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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.
Score: 0.107
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A de novo deletion in FMR1 in a patient with developmental delay. Hum Mol Genet. 1994 Sep; 3(9):1705-6.
Score: 0.106
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Fine structure of the human FMR1 gene. Hum Mol Genet. 1994 Apr; 3(4):684-5.
Score: 0.103
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Frequency and stability of the fragile X premutation. Hum Mol Genet. 1994 Mar; 3(3):393-8.
Score: 0.102
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Advances in molecular analysis of fragile X syndrome. JAMA. 1994 Feb 16; 271(7):536-42.
Score: 0.102
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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.
Score: 0.100
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Alternative splicing in the fragile X gene FMR1. Hum Mol Genet. 1993 Aug; 2(8):1348.
Score: 0.098
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Trinucleotide repeat instability: when and where? Nat Genet. 1993 Jun; 4(2):107-8.
Score: 0.097
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Homeostatic responses fail to correct defective amygdala inhibitory circuit maturation in fragile X syndrome. J Neurosci. 2013 Apr 24; 33(17):7548-58.
Score: 0.097
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Alternative splicing in the fragile X gene FMR1. Hum Mol Genet. 1993 Apr; 2(4):399-404.
Score: 0.096
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The unstable repeats--three evolving faces of neurological disease. Neuron. 2013 Mar 06; 77(5):825-43.
Score: 0.096
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Triplet repeat mutations in human disease. Science. 1992 May 08; 256(5058):784-9.
Score: 0.090
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AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome. Genet Med. 2012 Aug; 14(8):729-36.
Score: 0.090
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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.
Score: 0.089
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Absence of expression of the FMR-1 gene in fragile X syndrome. Cell. 1991 Aug 23; 66(4):817-22.
Score: 0.086
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Ablation of Fmrp in adult neural stem cells disrupts hippocampus-dependent learning. Nat Med. 2011 May; 17(5):559-65.
Score: 0.084
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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.
Score: 0.071
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Fragile X-related proteins regulate mammalian circadian behavioral rhythms. Am J Hum Genet. 2008 Jul; 83(1):43-52.
Score: 0.069
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Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice. Neurobiol Dis. 2008 Jul; 31(1):127-32.
Score: 0.068
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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.
Score: 0.065
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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.
Score: 0.061
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Audiogenic seizure susceptibility is reduced in fragile X knockout mice after introduction of FMR1 transgenes. Exp Neurol. 2007 Jan; 203(1):233-40.
Score: 0.061
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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.
Score: 0.057
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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.
Score: 0.053
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Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway. Nat Neurosci. 2004 Feb; 7(2):113-7.
Score: 0.051
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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.
Score: 0.048
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Drosophila fragile X protein, DFXR, regulates neuronal morphology and function in the brain. Neuron. 2002 Jun 13; 34(6):961-72.
Score: 0.045
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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.
Score: 0.044
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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.
Score: 0.042
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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.
Score: 0.040
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Reduced mRNA for G3BP in fragile X cells: evidence of FMR1 gene regulation. Am J Med Genet. 1999 May 28; 84(3):268-71.
Score: 0.037
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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.
Score: 0.034
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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.
Score: 0.031
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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.
Score: 0.030
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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.
Score: 0.030
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FMR1 in global populations. Am J Hum Genet. 1996 Mar; 58(3):513-22.
Score: 0.029
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Learning-disabled males with a fragile X CGG expansion in the upper premutation size range. Pediatrics. 1996 Jan; 97(1):122-6.
Score: 0.029
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Anomalous rapid electrophoretic mobility of DNA containing triplet repeats associated with human disease genes. Biochemistry. 1995 Dec 12; 34(49):16125-31.
Score: 0.029
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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.
Score: 0.028
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The fragile X premutation in carriers and its effect on mutation size in offspring. Am J Hum Genet. 1995 May; 56(5):1147-55.
Score: 0.028
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The GABAA receptor is an FMRP target with therapeutic potential in fragile X syndrome. Cell Cycle. 2015; 14(18):2985-95.
Score: 0.027
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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.
Score: 0.027
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Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes. Hum Mol Genet. 1994 Oct; 3(10):1823-7.
Score: 0.027
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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.
Score: 0.027
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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.
Score: 0.026
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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.
Score: 0.026
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Trinucleotide repeat expansions in neurological disease. Curr Opin Neurobiol. 1993 Oct; 3(5):752-9.
Score: 0.025
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High resolution methylation analysis of the FMR1 gene trinucleotide repeat region in fragile X syndrome. Hum Mol Genet. 1993 Oct; 2(10):1659-65.
Score: 0.025
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Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG-repeat. Nat Genet. 1993 Jul; 4(3):244-51.
Score: 0.024
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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.
Score: 0.024
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Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome. Nat Genet. 1993 Jan; 3(1):36-43.
Score: 0.024
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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.
Score: 0.023
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DNA methylation represses FMR-1 transcription in fragile X syndrome. Hum Mol Genet. 1992 Sep; 1(6):397-400.
Score: 0.023
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Intragenic probe used for diagnostics in fragile X families. Am J Med Genet. 1992 Apr 15-May 1; 43(1-2):192-6.
Score: 0.022
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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.
Score: 0.022
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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.
Score: 0.022
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The generation of a conditional Fmr1 knock out mouse model to study Fmrp function in vivo. Neurobiol Dis. 2006 Mar; 21(3):549-55.
Score: 0.014
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Knockout mouse model for Fxr2: a model for mental retardation. Hum Mol Genet. 2002 Mar 01; 11(5):487-98.
Score: 0.011
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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.
Score: 0.009
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PCR amplification and analysis of yeast artificial chromosomes. Genomics. 1992 Aug; 13(4):1303-6.
Score: 0.006