scholarly article | Q13442814 |
P819 | ADS bibcode | 1995Sci...268..731F |
P356 | DOI | 10.1126/SCIENCE.7732383 |
P698 | PubMed publication ID | 7732383 |
P5875 | ResearchGate publication ID | 15467572 |
P2093 | author name string | Warren ST | |
Feng Y | |||
Zhang F | |||
Eberhart D | |||
Lokey LK | |||
Chastain JL | |||
Lakkis L | |||
P433 | issue | 5211 | |
P407 | language of work or name | English | Q1860 |
P304 | page(s) | 731-734 | |
P577 | publication date | 1995-05-01 | |
P1433 | published in | Science | Q192864 |
P1476 | title | Translational suppression by trinucleotide repeat expansion at FMR1. | |
P478 | volume | 268 |
Q51972762 | 9th international workshop on fragile X syndrome and X-linked mental retardation. |
Q38987390 | A MicroRNA Profile in Fmr1 Knockout Mice Reveals MicroRNA Expression Alterations with Possible Roles in Fragile X Syndrome |
Q52299158 | A fragile X male with a broad smear on Southern blot analysis representing 100-500 CGG repeats and no methylation at the EagI site of the FMR-1 gene. |
Q48943788 | A fragile X mosaic male with a cryptic full mutation detected in epithelium but not in blood |
Q35148962 | A mouse model of the fragile X premutation: effects on behavior, dendrite morphology, and regional rates of cerebral protein synthesis |
Q89748818 | A native function for RAN translation and CGG repeats in regulating fragile X protein synthesis |
Q51986224 | A simple multiplex FRAXA, FRAXE, and FRAXF PCR assay convenient for wide screening programs. |
Q38345118 | A study of the distributional characteristics of FMR1 transcript levels in 238 individuals |
Q37143251 | A study of the ultrastructure of fragile-X-related proteins |
Q51984888 | Acetylated histones are associated with FMR1 in normal but not fragile X-syndrome cells. |
Q34699414 | Advances in understanding of fragile X pathogenesis and FMRP function, and in identification of X linked mental retardation genes. |
Q37376532 | Amyloid precursor protein and alpha synuclein translation, implications for iron and inflammation in neurodegenerative diseases |
Q50855638 | An unusual fragile X sibship: female compound heterozygote and male with a partially methylated full mutation. |
Q51996297 | Assessment of FMR1 expression by reverse transcriptase-polymerase chain reaction of KH domains. |
Q92350891 | Association between IQ and FMR1 protein (FMRP) across the spectrum of CGG repeat expansions |
Q51978995 | Association between idiopathic premature ovarian failure and fragile X premutation. |
Q54959630 | BC RNA Mislocalization in the Fragile X Premutation. |
Q47922301 | Bidirectional regulation of fragile X mental retardation protein phosphorylation controls rhodopsin homoeostasis |
Q37021134 | CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome. |
Q37254039 | Ca2+/calmodulin-dependent protein kinase IV links group I metabotropic glutamate receptors to fragile X mental retardation protein in cingulate cortex. |
Q35809701 | Capturing the fragile X premutation phenotypes: a collaborative effort across multiple cohorts |
Q37204530 | Cellular reprogramming: a novel tool for investigating autism spectrum disorders |
Q34295112 | Cerebral protein synthesis in a knockin mouse model of the fragile X premutation |
Q48326274 | Changes in mGlu5 receptor-dependent synaptic plasticity and coupling to homer proteins in the hippocampus of Ube3A hemizygous mice modeling angelman syndrome |
Q35035766 | Changes in sensitivity of reward and motor behavior to dopaminergic, glutamatergic, and cholinergic drugs in a mouse model of fragile X syndrome |
Q26864726 | Channelopathy pathogenesis in autism spectrum disorders |
Q42652903 | Characterization of a cDNA containing trinucleotide repeat sequences that is highly enriched in spermatogenic cells |
Q47877248 | Characterization of the cystatin B gene promoter harboring the dodecamer repeat expanded in progressive myoclonus epilepsy, EPM1. |
Q36016607 | Chromatin changes in the development and pathology of the Fragile X-associated disorders and Friedreich ataxia |
Q36265538 | Chromosomal fragility and human genetic disorders |
Q41025202 | Clinical implications of unstable DNA repeat sequences |
Q52169510 | Clinical involvement and protein expression in individuals with the FMR1 premutation. |
Q34626140 | Cognitive Aspects of Fragile X syndrome |
Q24650948 | Comparative genomics and molecular dynamics of DNA repeats in eukaryotes |
Q34465437 | Deficits in LTP induction by 5-HT2A receptor antagonist in a mouse model for fragile X syndrome |
Q42482484 | Deficits in trace fear memory and long-term potentiation in a mouse model for fragile X syndrome. |
Q37483297 | Destabilization of tetraplex structures of the fragile X repeat sequence (CGG)n is mediated by homolog-conserved domains in three members of the hnRNP family |
Q40452043 | Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatments. |
Q35153436 | Differential usage of transcriptional start sites and polyadenylation sites in FMR1 premutation alleles. |
Q41497643 | Dopamine Release and Uptake Impairments and Behavioral Alterations Observed in Mice that Model Fragile X Mental Retardation Syndrome |
Q38292954 | Drosophila fragile X mental retardation protein developmentally regulates activity-dependent axon pruning |
Q33193087 | Drug Discovery Targeted to the Alzheimer's APP mRNA 5'-Untranslated Region: The Action of Paroxetine and Dimercaptopropanol |
Q26782616 | Dysregulation and restoration of translational homeostasis in fragile X syndrome |
Q36879282 | Dysregulation of mTOR signaling in fragile X syndrome |
Q39720686 | Effect of in vitro promoter methylation and CGG repeat expansion on FMR-1 expression |
Q35751997 | Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation |
Q34146206 | Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. |
Q47449434 | Elevated progranulin contributes to synaptic and learning deficit due to loss of fragile X mental retardation protein |
Q47178654 | Epigenetic Aberration of FMR1 Gene in Infertile Women with Diminished Ovarian Reserve |
Q39961107 | Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations. |
Q37695480 | Epigenetic changes and non-coding expanded repeats |
Q34056154 | Epigenetic characterization of the FMR1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of fragile X syndrome |
Q36848454 | Epigenetics in nucleotide repeat expansion disorders |
Q54765415 | Epigenetics, fragile X syndrome and transcriptional therapy. |
Q60719469 | Etiologies of Primary Ovarian Insufficiency |
Q34007440 | Examination of FMR1 transcript and protein levels among 74 premutation carriers |
Q34539864 | Excessive astrocyte-derived neurotrophin-3 contributes to the abnormal neuronal dendritic development in a mouse model of fragile X syndrome |
Q39584664 | Expansion of the (CTG)(n) repeat in the 5'-UTR of a reporter gene impedes translation |
Q31106014 | FDA-preapproved drugs targeted to the translational regulation and processing of the amyloid precursor protein |
Q24801535 | Facile FMR1 mRNA structure regulation by interruptions in CGG repeats |
Q37577085 | Fear-specific amygdala function in children and adolescents on the fragile x spectrum: a dosage response of the FMR1 gene. |
Q24793185 | Fragile X (CGG)n repeats induce a transcriptional repression in cis upon a linked promoter: evidence for a chromatin mediated effect |
Q51973841 | Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA. |
Q34521866 | Fragile X mental retardation protein expression in Alzheimer's disease |
Q34993137 | Fragile X mental retardation protein in plasticity and disease |
Q43297720 | Fragile X mental retardation protein is required for chemically-induced long-term potentiation of the hippocampus in adult mice. |
Q34773158 | Fragile X mental retardation protein regulates heterosynaptic plasticity in the hippocampus |
Q28303541 | Fragile X mental retardation protein: nucleocytoplasmic shuttling and association with somatodendritic ribosomes |
Q36375813 | Fragile X premutation RNA is sufficient to cause primary ovarian insufficiency in mice |
Q35250296 | Fragile X premutations are not a major cause of early menopause |
Q34446594 | Fragile X syndrome and Friedreich's ataxia: two different paradigms for repeat induced transcript insufficiency |
Q35033858 | Fragile X syndrome: diagnostic and carrier testing |
Q33639492 | Fragile X-Associated Tremor/Ataxia Syndrome: From Molecular Pathogenesis to Development of Therapeutics |
Q74607477 | Fragile-X syndrome and myotonic dystrophy: parallels and paradoxes |
Q37735126 | From embryonic development to human diseases: The functional role of caveolae/caveolin |
Q26825821 | From genes to environment: using integrative genomics to build a "systems-level" understanding of autism spectrum disorders |
Q38542561 | Genetic Counseling for Fragile X Syndrome: Recommendations of the National Society of Genetic Counselors |
Q36208811 | Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors |
Q34017168 | Global methylation profiling of lymphoblastoid cell lines reveals epigenetic contributions to autism spectrum disorders and a novel autism candidate gene, RORA, whose protein product is reduced in autistic brain |
Q35492486 | Glycogen synthase kinase-3: a promising therapeutic target for fragile x syndrome |
Q36305963 | Group I mGluR antagonist rescues the deficit of D1-induced LTP in a mouse model of fragile X syndrome |
Q27008983 | HIV: cell binding and entry |
Q43074046 | High frequency of T9 and CFTR mutations in children with idiopathic bronchiectasis |
Q33775485 | Histone deacetylases suppress CGG repeat-induced neurodegeneration via transcriptional silencing in models of fragile X tremor ataxia syndrome. |
Q37203166 | Histone modifications depict an aberrantly heterochromatinized FMR1 gene in fragile x syndrome |
Q36972709 | Human pathologies associated with defective RNA transport and localization in the nervous system |
Q37598427 | Human pluripotent stem cell models of autism spectrum disorder: emerging frontiers, opportunities, and challenges towards neuronal networks in a dish |
Q34145956 | Hypomethylation of an expanded FMR1 allele is not associated with a global DNA methylation defect |
Q83820790 | Identification of secondary structure in the 5'-untranslated region of the human adrenomedullin mRNA with implications for the regulation of mRNA translation |
Q33376873 | Identifying intrinsic and extrinsic determinants that regulate internal initiation of translation mediated by the FMR1 5' leader |
Q37208978 | Imbalance between Glutamate and GABA in Fmr1 Knockout Astrocytes Influences Neuronal Development |
Q36626883 | Impaired activity-dependent FMRP translation and enhanced mGluR-dependent LTD in Fragile X premutation mice |
Q30407652 | Impaired sensorimotor gating in Fmr1 knock out and Fragile X premutation model mice |
Q40868842 | In vitro reactivation of the FMR1 gene involved in fragile X syndrome |
Q35433625 | Increase of FMRP expression, raised levels of FMR1 mRNA, and clonal selection in proliferating cells with unmethylated fragile X repeat expansions: a clue to the sex bias in the transmission of full mutations? |
Q50600460 | Increased coupling of caveolin-1 and estrogen receptor α contributes to the fragile X syndrome. |
Q34612704 | Initiation of translation of the FMR1 mRNA Occurs predominantly through 5'-end-dependent ribosomal scanning |
Q28142664 | Interaction of the transcription factors USF1, USF2, and alpha -Pal/Nrf-1 with the FMR1 promoter. Implications for Fragile X mental retardation syndrome |
Q37696212 | Investigation of amygdala volume in men with the fragile X premutation. |
Q36966615 | Investigation of phenotypes associated with mood and anxiety among male and female fragile X premutation carriers |
Q35881984 | Large domains of apparent delayed replication timing associated with triplet repeat expansion at FRAXA and FRAXE. |
Q71167717 | Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy |
Q37687732 | Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies. |
Q47874782 | Minimum CAG repeat in the human calmodulin-1 gene 5' untranslated region is required for full expression |
Q33537385 | Molecular and cellular genetics of fragile X syndrome |
Q35174621 | Molecular background of progressive myoclonus epilepsy |
Q71621143 | Molecular-intelligence correlations in young fragile X males with a mild CGG repeat expansion in the FMR1 gene |
Q33677257 | Mosaicism for the fragile X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene |
Q39659851 | NF-Y, AP2, Nrf1 and Sp1 regulate the fragile X-related gene 2 (FXR2). |
Q36638284 | Neurodegeneration the RNA way |
Q37156229 | No evidence for a difference in neuropsychological profile among carriers and noncarriers of the FMR1 premutation in adults under the age of 50 |
Q30387508 | Normal Performance of Fmr1 Mice on a Touchscreen Delayed Nonmatching to Position Working Memory Task |
Q21135474 | Novel autism subtype-dependent genetic variants are revealed by quantitative trait and subphenotype association analyses of published GWAS data |
Q35009426 | Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disorders |
Q48291079 | Pathogenesis of neurodegenerative diseases associated with expanded glutamine repeats: new answers, new questions. |
Q34446607 | Pharmacological reactivation of inactive genes: the fragile X experience |
Q41351985 | Potential pharmacological treatment of fragile X syndrome during adulthood |
Q51985518 | Prenatal fragile X detection using cytoplasmic and nuclear-specific monoclonal antibodies. |
Q39681923 | Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1 gene in fragile X cells treated with 5-azadeoxycytidine |
Q38778353 | RNA G-quadruplexes: emerging mechanisms in disease |
Q41542861 | RNA biology of disease-associated microsatellite repeat expansions |
Q34542108 | RNA structure of trinucleotide repeats associated with human neurological diseases |
Q47071910 | RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila |
Q26992035 | RNA-mediated neurodegeneration in fragile X-associated tremor/ataxia syndrome |
Q37399680 | RNA-mediated pathogenesis in fragile X-associated disorders |
Q47630636 | Recent advances in assays for the fragile X-related disorders. |
Q34364858 | Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations. |
Q58706607 | Reduced synaptic function of Kainate receptors in the insular cortex of Fmr1 Knock-out mice |
Q35944748 | Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model |
Q35196556 | Regulation of molecular pathways in the Fragile X Syndrome: insights into Autism Spectrum Disorders |
Q33851463 | Repeat associated non-ATG translation initiation: one DNA, two transcripts, seven reading frames, potentially nine toxic entities! |
Q49905433 | Repeat-associated non-AUG (RAN) translation and other molecular mechanisms in Fragile X Tremor Ataxia Syndrome. |
Q35340115 | Repeat-associated non-AUG translation and its impact in neurodegenerative disease |
Q42057289 | Roles of CREB in the regulation of FMRP by group I metabotropic glutamate receptors in cingulate cortex. |
Q46628489 | Roles of calcium-stimulated adenylyl cyclase and calmodulin-dependent protein kinase IV in the regulation of FMRP by group I metabotropic glutamate receptors. |
Q28396707 | Roles of fragile X mental retardation protein in dopaminergic stimulation-induced synapse-associated protein synthesis and subsequent alpha-amino-3-hydroxyl-5-methyl-4-isoxazole-4-propionate (AMPA) receptor internalization |
Q36491908 | SIRT1 inhibition alleviates gene silencing in Fragile X mental retardation syndrome |
Q41579814 | Screening for fragile X syndrome: information needs for health planners |
Q53366504 | Seventh International Workshop on the Fragile X and X-linked Mental Retardation. |
Q36142068 | Signaling defects in iPSC-derived fragile X premutation neurons |
Q42584199 | Signals, synapses, and synthesis: how new proteins control plasticity |
Q92571604 | Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing |
Q46006405 | Size and methylation mosaicism in males with Fragile X syndrome. |
Q37715121 | Spatially restricting gene expression by local translation at synapses |
Q30401824 | Stem cells and modeling of autism spectrum disorders |
Q38759837 | Sustained expression of FMR1 mRNA from reactivated fragile X syndrome alleles after treatment with small molecules that prevent trimethylation of H3K27. |
Q58777280 | Targeted Reactivation of Transcription in Fragile X Syndrome Embryonic Stem Cells |
Q34016335 | Testing the FMR1 promoter for mosaicism in DNA methylation among CpG sites, strands, and cells in FMR1-expressing males with fragile X syndrome |
Q41527060 | The Neuropathology of CAG Repeat Diseases: Review and Update of Genetic and Molecular Features |
Q37204533 | The biological effects of simple tandem repeats: lessons from the repeat expansion diseases |
Q34081489 | The clinical significance of fragile sites on human chromosomes |
Q36799924 | The expanding genomic landscape of autism: discovering the 'forest' beyond the 'trees' |
Q28201533 | The fragile X gene and its function |
Q48061195 | The fragile X phenotype in a mosaic male with a deletion showing expression of the FMR1 protein in 28% of the cells |
Q34699408 | The fragile X premutation: into the phenotypic fold |
Q73484548 | The fragile X syndrome |
Q24533443 | The fragile-X premutation: a maturing perspective |
Q51989177 | The nature of the spatial deficit in young females with Fragile-X syndrome: a neuropsychological and molecular perspective. |
Q37181553 | The quadruplex r(CGG)n destabilizing cationic porphyrin TMPyP4 cooperates with hnRNPs to increase the translation efficiency of fragile X premutation mRNA |
Q36082875 | The tetraplex (CGG)n destabilizing proteins hnRNP A2 and CBF-A enhance the in vivo translation of fragile X premutation mRNA. |
Q51982923 | Tissue-specific methylation differences in a fragile X premutation carrier. |
Q40793010 | Transcription of the FMR1 gene in individuals with fragile X syndrome |
Q37604170 | Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome. |
Q37421101 | Translation of the FMR1 mRNA is not influenced by AGG interruptions |
Q73351650 | Tremor and ataxia in fragile X premutation carriers: Blinded videotape study |
Q36265488 | Trinucleotide repeats and neuropsychiatric disorders |
Q33680162 | Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats |
Q33678120 | Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family |
Q73013123 | X-linked mental retardation |
Search more.