| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Zahra Fazeli, Sayyed Mohammad Hossein Ghaderian, Hossein Najmabadi, Mir Davood Omran. High expression of miR-510 was associated with CGG expansion located at upstream of FMR1 into full mutation. Journal of cellular biochemistry. 2019-11-20. PMID:30160796. |
the cgg expansion and its methylation at the promoter of fmr1 located in this fragile site were associated with clinical symptoms of fragile x syndrome (fxs). |
2019-11-20 |
2023-08-13 |
Not clear |
| Camilla J Lundbye, Anna Karina H Toft, Tue G Bank. Inhibition of GluN2A NMDA receptors ameliorates synaptic plasticity deficits in the Fmr1 The Journal of physiology. vol 596. issue 20. 2019-11-04. PMID:30132892. |
inhibition of glun2a nmda receptors ameliorates synaptic plasticity deficits in the fmr1 fragile x syndrome (fxs) is a genetic condition that is the most common form of inherited intellectual impairment and causes a range of neurodevelopmental complications including learning disabilities and intellectual disability and shares many characteristics with autism spectrum disorder (asd). |
2019-11-04 |
2023-08-13 |
mouse |
| Naohiro Sunamura, Shinzo Iwashita, Kei Enomoto, Taisuke Kadoshima, Fujio Ison. Loss of the fragile X mental retardation protein causes aberrant differentiation in human neural progenitor cells. Scientific reports. vol 8. issue 1. 2019-10-21. PMID:30072797. |
fragile x syndrome (fxs) is caused by transcriptional silencing of the fmr1 gene during embryonic development with the consequent loss of the encoded fragile x mental retardation protein (fmrp). |
2019-10-21 |
2023-08-13 |
mouse |
| Laura Del Hoyo Soriano, Angela John Thurman, Danielle Jenine Harvey, W Ted Brown, Leonard Abbedut. Genetic and maternal predictors of cognitive and behavioral trajectories in females with fragile X syndrome. Journal of neurodevelopmental disorders. vol 10. issue 1. 2019-10-03. PMID:29925305. |
fragile x syndrome (fxs) is caused by a mutation in the fmr1 gene on the x chromosome, leading to decreased levels of fmr1 protein (fmrp), which causes the array of neuropsychological impairments that define fxs. |
2019-10-03 |
2023-08-13 |
Not clear |
| Rachel B Kay, Nicole A Gabreski, Jason W Triplet. Visual subcircuit-specific dysfunction and input-specific mispatterning in the superior colliculus of fragile X mice. Journal of neurodevelopmental disorders. vol 10. issue 1. 2019-10-03. PMID:29950161. |
for example, patients with fragile x syndrome (fxs), caused by a silencing of the fmr1 gene, exhibit impairments in visual function specific to the dorsal system, which processes motion information. |
2019-10-03 |
2023-08-13 |
mouse |
| Aleksandra Landowska, Sylwia Rzońca, Jerzy Bal, Monika Go. [Fragile X syndrome and FMR1-dependent diseases - diagnostic scheme based on own experience .] Developmental period medicine. vol 22. issue 1. 2019-09-30. PMID:29641418. |
the presence of dynamic mutation in the fmr1 gene localized on the x chromosome (xq28) is the major cause of fragile x syndrome. |
2019-09-30 |
2023-08-13 |
Not clear |
| David Hessl, Danielle Harvey, Stephanie Sansone, Crystal Crestodina, Jamie Chin, Reshma Joshi, Randi J Hagerman, Elizabeth Berry-Kravi. Effects of mavoglurant on visual attention and pupil reactivity while viewing photographs of faces in Fragile X Syndrome. PloS one. vol 14. issue 1. 2019-09-25. PMID:30653533. |
numerous preclinical studies have supported the theory that enhanced activation of mglur5 signaling, due to the absence or reduction of the fmr1 protein, contributes to cognitive and behavioral deficits in patients with fragile x syndrome (fxs). |
2019-09-25 |
2023-08-13 |
Not clear |
| Claudia Danesi, Venkat Swaroop Achuta, Padraic Corcoran, Ulla-Kaisa Peteri, Giorgio Turconi, Nobuaki Matsui, Ilyas Albayrak, Veronika Rezov, Anders Isaksson, Maija L Castré. Increased Calcium Influx through L-type Calcium Channels in Human and Mouse Neural Progenitors Lacking Fragile X Mental Retardation Protein. Stem cell reports. vol 11. issue 6. 2019-09-20. PMID:30503263. |
the absence of fmr1 protein (fmrp) causes fragile x syndrome (fxs) and disturbed fmrp function is implicated in several forms of human psychopathology. |
2019-09-20 |
2023-08-13 |
mouse |
| Xiaoqiang Cai, Mohammad Arif, Haolei Wan, Ruth Kornreich, Lisa J Edelman. Clinical Genetic Testing for Fragile X Syndrome by Polymerase Chain Reaction Amplification and Southern Blot Analyses. Methods in molecular biology (Clifton, N.J.). vol 1942. 2019-08-21. PMID:30900172. |
fragile x syndrome (fxs) is characterized by mental retardation and in the vast majority of cases it is caused by expansion of cgg trinucleotide repeats in the 5' untranslated region (or utr) in the fmr1 gene on the x chromosome. |
2019-08-21 |
2023-08-13 |
Not clear |
| Meng Li, Jack Faro Vander Stoep Hunt, Anita Bhattacharyya, Xinyu Zha. One-Step Generation of Seamless Luciferase Gene Knockin Using CRISPR/Cas9 Genome Editing in Human Pluripotent Stem Cells. Methods in molecular biology (Clifton, N.J.). vol 1942. 2019-08-21. PMID:30900175. |
here we describe one-step knockin of the nanoluc luciferase gene (nluc) to the fragile x syndrome gene, fmr1, in a human embryonic stem cell line (hesc), h1, and a fragile x disease model human induced pluripotent stem cell line (hipsc), fx-ipsc. |
2019-08-21 |
2023-08-13 |
human |
| M Mila, M I Alvarez-Mora, I Madrigal, L Rodriguez-Reveng. Fragile X syndrome: An overview and update of the FMR1 gene. Clinical genetics. vol 93. issue 2. 2019-07-30. PMID:28617938. |
fragile x syndrome: an overview and update of the fmr1 gene. |
2019-07-30 |
2023-08-13 |
Not clear |
| Zoe Nicole Talbot, Fraser Todd Sparks, Dino Dvorak, Bridget Mary Curran, Juan Marcos Alarcon, André Antonio Fento. Normal CA1 Place Fields but Discoordinated Network Discharge in a Fmr1-Null Mouse Model of Fragile X Syndrome. Neuron. vol 97. issue 3. 2019-07-22. PMID:29358017. |
silence of fmr1 causes loss of fragile x mental retardation protein (fmrp) and dysregulated translation at synapses, resulting in the intellectual disability and autistic symptoms of fragile x syndrome (fxs). |
2019-07-22 |
2023-08-13 |
mouse |
| James H Sun, Linda Zhou, Daniel J Emerson, Sai A Phyo, Katelyn R Titus, Wanfeng Gong, Thomas G Gilgenast, Jonathan A Beagan, Beverly L Davidson, Flora Tassone, Jennifer E Phillips-Cremin. Disease-Associated Short Tandem Repeats Co-localize with Chromatin Domain Boundaries. Cell. vol 175. issue 1. 2019-06-17. PMID:30173918. |
fragile x syndrome patients exhibit severe boundary disruption in a manner that correlates with local loss of ctcf occupancy and the degree of fmr1 silencing. |
2019-06-17 |
2023-08-13 |
human |
| Kailey M Owens, Lindsay Dohany, Carol Holland, Jeana DaRe, Tobias Mann, Christina Settler, Ryan E Longma. FMR1 premutation frequency in a large, ethnically diverse population referred for carrier testing. American journal of medical genetics. Part A. vol 176. issue 6. 2019-05-21. PMID:29603880. |
fragile x syndrome (fxs) is the most common inherited cause of intellectual disability and is caused by an expansion of cytosine-guanine-guanine (cgg) repeats in the fmr1 gene. |
2019-05-21 |
2023-08-13 |
Not clear |
| Hari R Sing. Epigenetic Editing: Repurposing for Rescue. Trends in biochemical sciences. vol 43. issue 8. 2019-05-09. PMID:29910019. |
al., 2018) shows that epigenetic editors can revert abnormal heterochromatin formation at the gene promoter leading to restoration of fmr1 gene expression, functionally rescuing fragile x syndrome (fxs), an otherwise unamenable genetic disorder. |
2019-05-09 |
2023-08-13 |
Not clear |
| Thomas C Dockendorff, Mariano Labrado. The Fragile X Protein and Genome Function. Molecular neurobiology. vol 56. issue 1. 2019-04-01. PMID:29796988. |
the fragile x syndrome (fxs) arises from loss of expression or function of the fmr1 gene and is one of the most common monogenic forms of intellectual disability and autism. |
2019-04-01 |
2023-08-13 |
Not clear |
| Claudine M Kraan, David E Godler, David J Amo. Epigenetics of fragile X syndrome and fragile X-related disorders. Developmental medicine and child neurology. vol 61. issue 2. 2019-03-25. PMID:30084485. |
the fragile x mental retardation 1 gene (fmr1)-related disorder fragile x syndrome (fxs) is the most common heritable form of cognitive impairment and the second most common cause of comorbid autism. |
2019-03-25 |
2023-08-13 |
Not clear |
| Kwan Young Lee, Kathryn A Jewett, Hee Jung Chung, Nien-Pei Tsa. Loss of fragile X protein FMRP impairs homeostatic synaptic downscaling through tumor suppressor p53 and ubiquitin E3 ligase Nedd4-2. Human molecular genetics. vol 27. issue 16. 2019-03-08. PMID:29771335. |
here, we showed that the homeostatic synaptic downscaling is absent in the hippocampal neurons of fmr1 ko mice, the mouse model of the most common inherited autism, fragile x syndrome (fxs). |
2019-03-08 |
2023-08-13 |
mouse |
| Kathryn A Jewett, Kwan Young Lee, Daphne E Eagleman, Stephanie Soriano, Nien-Pei Tsa. Dysregulation and restoration of homeostatic network plasticity in fragile X syndrome mice. Neuropharmacology. vol 138. 2019-02-13. PMID:29890190. |
using a mouse model of fragile x syndrome, in which fragile x mental retardation protein (fmrp) is absent (fmr1 knockout), we found that mdm2-p53 signaling, network synchronization, and the reduction of network spike amplitude upon chronic activity stimulation were all impaired. |
2019-02-13 |
2023-08-13 |
mouse |
| Kathryn A Jewett, Kwan Young Lee, Daphne E Eagleman, Stephanie Soriano, Nien-Pei Tsa. Dysregulation and restoration of homeostatic network plasticity in fragile X syndrome mice. Neuropharmacology. vol 138. 2019-02-13. PMID:29890190. |
together, our findings reveal the roles of both fmr1 and mdm2-p53 signaling in the homeostatic regulation of neural network activity and provide insight into the deficits of excitability homeostasis seen when fmr1 is compromised, such as occurs with fragile x syndrome. |
2019-02-13 |
2023-08-13 |
mouse |