| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Federica Alice Maria Montanaro, Paolo Alfieri, Cristina Caciolo, Alessia Brunetti, Alessandra Airoldi, Anna de Florio, Luigi Tinella, Andrea Bosco, Stefano Vicar. Fragile X Syndrome and FMR1 premutation: results from a survey on associated conditions and treatment priorities in Italy. Orphanet journal of rare diseases. vol 19. issue 1. 2024-07-12. PMID:38997701. |
fragile x syndrome and fmr1 premutation: results from a survey on associated conditions and treatment priorities in italy. |
2024-07-12 |
2024-07-15 |
human |
| Federica Alice Maria Montanaro, Paolo Alfieri, Cristina Caciolo, Alessia Brunetti, Alessandra Airoldi, Anna de Florio, Luigi Tinella, Andrea Bosco, Stefano Vicar. Fragile X Syndrome and FMR1 premutation: results from a survey on associated conditions and treatment priorities in Italy. Orphanet journal of rare diseases. vol 19. issue 1. 2024-07-12. PMID:38997701. |
fragile x syndrome (fxs) is the most common cause of inherited intellectual disability, caused by cgg-repeat expansions (> 200) in the fmr1 gene leading to lack of expression. |
2024-07-12 |
2024-07-15 |
human |
| Nawon Kim, Katherine Bonnycastle, Peter C Kind, Michael A Cousi. Delayed recruitment of activity-dependent bulk endocytosis in Fmr1 knockout neurons. Journal of neurochemistry. 2024-07-09. PMID:38978454. |
importantly, optimal adbe recruitment was delayed until div 21 in fmr1 knockout neurons, which model fragile x syndrome (fxs). |
2024-07-09 |
2024-07-12 |
rat |
| M Angeles Luque, Sara Morcuende, Blas Torres, Luis Herrer. Kv7/M channel dysfunction produces hyperexcitability in hippocampal CA1 pyramidal cells of Fmr1 knockout mice. The Journal of physiology. 2024-07-08. PMID:38976504. |
fragile x syndrome (fxs), the most frequent monogenic form of intellectual disability, is caused by transcriptional silencing of the fmr1 gene that could render neuronal hyperexcitability. |
2024-07-08 |
2024-07-12 |
mouse |
| Jordan E Norris, Elizabeth M Berry-Kravis, Mark D Harnett, Scott A Reines, Melody A Reese, Abigail H Outterson, Claire Michalak, Jeremiah Furman, Mark E Gurney, Lauren E Ethridg. Auditory N1 event-related potential amplitude is predictive of serum concentration of BPN14770 in fragile x syndrome. Research square. 2024-07-01. PMID:38946987. |
fragile x syndrome (fxs) is a rare neurodevelopmental disorder caused by a cgg repeat expansion ≥ 200 repeats in 5' untranslated region of the fmr1 gene, leading to intellectual disability and cognitive difficulties, including in the domain of communication. |
2024-07-01 |
2024-07-03 |
human |
| Ana M Salmerón, Cristian Pérez-Fernández, Ana C Abreu, Silvia Fernández, Ana I Tristán, Diego Ruiz-Sobremazas, María Cabré, Laia Guardia-Escote, Ignacio Fernández, Fernando Sánchez-Sante. Exploring Microbiota-Gut-Brain Axis Biomarkers Linked to Autism Spectrum Disorder in Prenatally Chlorpyrifos-Exposed Fmr1 Knock-Out and Wild-Type Male Rats. Toxicology. 2024-06-26. PMID:38925359. |
fmr1 (fragile x messenger ribonucleoprotein 1)-knockout (ko) rats, modeling the human fragile x syndrome (fxs), are of particular interest for exploring the asd-like phenotype in preclinical studies. |
2024-06-26 |
2024-06-29 |
human |
| Soraya O Sandoval, Natasha M Méndez-Albelo, Zhiyan Xu, Xinyu Zha. From wings to whiskers to stem cells: why every model matters in fragile X syndrome research. Journal of neurodevelopmental disorders. vol 16. issue 1. 2024-06-13. PMID:38872088. |
fragile x syndrome (fxs) is caused by epigenetic silencing of the x-linked fragile x messenger ribonucleoprotein 1 (fmr1) gene located on chromosome xq27.3, which leads to the loss of its protein product, fragile x messenger ribonucleoprotein (fmrp). |
2024-06-13 |
2024-06-16 |
human |
| Carissa L Sirois, Yu Guo, Meng Li, Natalie E Wolkoff, Tomer Korabelnikov, Soraya Sandoval, Jiyoun Lee, Minjie Shen, Amaya Contractor, Andre M M Sousa, Anita Bhattacharyya, Xinyu Zha. CGG repeats in the human FMR1 gene regulate mRNA localization and cellular stress in developing neurons. Cell reports. vol 43. issue 6. 2024-06-12. PMID:38865241. |
the 5' untranslated region (utr) of the fragile x messenger ribonucleoprotein 1 (fmr1) gene contains polymorphic cgg repeats, the length of which has differing effects on fmr1 expression and human health, including the neurodevelopmental disorder fragile x syndrome. |
2024-06-12 |
2024-06-15 |
human |
| Bohan Zhang, Jingbao Zhang, Huan Chen, Dan Qiao, Fangzhen Guo, Xiangting Hu, Chao Qin, Xiaowen Jin, Kaixi Zhang, Chang Wang, Huixian Cui, Sha L. Role of FMRP in AKT/mTOR pathway-mediated hippocampal autophagy in fragile X syndrome. Progress in neuro-psychopharmacology & biological psychiatry. vol 134. 2024-06-08. PMID:38823765. |
fragile x syndrome (fxs) is caused by epigenetic silencing of the fmr1 gene, leading to the deletion of the coding protein fmrp. |
2024-06-08 |
2024-06-11 |
mouse |
| Cui Yang, Yu-Ting Huang, Yi-Fei Yao, Jun-Yi Fu, Yue-Sheng Lon. Hippocampal proteome comparison of infant and adult Fmr1 deficiency mice reveals adult-related changes associated with postsynaptic density. Journal of proteomics. 2024-05-26. PMID:38797434. |
deficiency in fragile x mental retardation 1 (fmr1) leads to loss of its encoded protein fmrp and causes fragile x syndrome (fxs) by dysregulating its target gene expression in an age-related fashion. |
2024-05-26 |
2024-05-31 |
mouse |
| Olivier Dionne, Armita Abolghasemi, François Corbin, Artuela Çak. Implication of the endocannabidiome and metabolic pathways in fragile X syndrome pathophysiology. Psychiatry research. vol 337. 2024-05-19. PMID:38763080. |
fragile x syndrome (fxs) results from the silencing of the fmr1 gene and is the most prevalent inherited cause of intellectual disability and the most frequent monogenic cause of autism spectrum disorder. |
2024-05-19 |
2024-05-27 |
Not clear |
| S D'Antoni, M Spatuzza, C M Bonaccorso, M V Catani. Role of Fragile X Messenger Ribonucleoprotein 1 in the pathophysiology of brain disorders: a glia perspective. Neuroscience and biobehavioral reviews. 2024-05-19. PMID:38763180. |
mutations in the fmr1 gene encoding fmrp are responsible for fragile x syndrome (fxs), a leading genetic cause of intellectual disability and autism spectrum disorder, and fragile x-associated tremor-ataxia syndrome (fxtas), a neurodegenerative disorder in aging men. |
2024-05-19 |
2024-05-27 |
Not clear |
| Giovanni Pagano, Alex Lyakhovich, Federico V Pallardó, Luca Tiano, Adriana Zatterale, Marco Trifuogg. Mitochondrial dysfunction in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome: prospect use of antioxidants and mitochondrial nutrients. Molecular biology reports. vol 51. issue 1. 2024-04-05. PMID:38578387. |
fragile x syndrome (fxs) is a genetic disorder characterized by mutation in the fmr1 gene, leading to the absence or reduced levels of fragile x messenger ribonucleoprotein 1 (fmrp). |
2024-04-05 |
2024-04-07 |
Not clear |
| Anna L Vlasits, Maria Syeda, Annelise Wickman, Pedro Guzman, Tiffany M Schmid. Atypical retinal function in a mouse model of Fragile X syndrome. bioRxiv : the preprint server for biology. 2024-04-01. PMID:38559003. |
we explored retinal function in the fmr1 knockout model of fragile x syndrome, focusing on a specific type of retinal neuron, the "sustained on alpha" retinal ganglion cell. |
2024-04-01 |
2024-04-04 |
mouse |
| Diana A Abbasi, Elizabeth Berry-Kravis, Xinyu Zhao, Stephanie M Cologn. Proteomics insights into fragile X syndrome: Unraveling molecular mechanisms and therapeutic avenues. Neurobiology of disease. 2024-03-28. PMID:38548140. |
fragile x syndrome (fxs) is a neurodevelopment disorder characterized by cognitive impairment, behavioral challenges, and synaptic abnormalities, with a genetic basis linked to a mutation in the fmr1 (fragile x messenger ribonucleoprotein 1) gene that results in a deficiency or absence of its protein product, fragile x messenger ribonucleoprotein (fmrp). |
2024-03-28 |
2024-03-31 |
Not clear |
| Pablo Juarez, Maria Jimena Salcedo-Arellano, Brett Dufour, Veronica Martinez-Cerdeñ. Fragile X cortex is characterized by decreased parvalbumin-expressing interneurons. Cerebral cortex (New York, N.Y. : 1991). vol 34. issue 3. 2024-03-24. PMID:38521994. |
fragile x syndrome is a genetic neurodevelopmental disorder caused by a mutation of the fragile x messenger ribonucleoprotein 1 (fmr1) gene in the x chromosome. |
2024-03-24 |
2024-03-26 |
Not clear |
| Dragana Protic, Randi Hagerma. State-of-the-art therapies for fragile X syndrome. Developmental medicine and child neurology. 2024-02-22. PMID:38385885. |
fragile x syndrome (fxs) is a neurodevelopmental disorder caused by a full mutation (> 200 cgg repeats) in the fmr1 gene. |
2024-02-22 |
2024-02-24 |
Not clear |
| Gabriele Giua, Daniela Iezzi, Alba Caceres-Rodriguez, Benjamin Strauss, Pascale Chavis, Olivier J Manzon. Sex-specific modulation of early life vocalization and cognition by Fmr1 gene dosage in a mouse model of Fragile X Syndrome. Biology of sex differences. vol 15. issue 1. 2024-02-21. PMID:38383408. |
sex-specific modulation of early life vocalization and cognition by fmr1 gene dosage in a mouse model of fragile x syndrome. |
2024-02-21 |
2024-02-24 |
mouse |
| Judith L A Fishburn, Heather L Larson, An Nguyen, Chloe J Welch, Taylor Moore, Aliyah Penn, Johnathan Newman, Anthony Mangino, Erin Widman, Rana Ghobashy, Jocelyn Witherspoon, Wendy Lee, Kimberly A Mulliga. Bisphenol F affects neurodevelopmental gene expression, mushroom body development and behavior in Drosophila melanogaster. Neurotoxicology and teratology. 2024-02-01. PMID:38301979. |
further, bpf may elicit a gene-environment interaction with drosophila fragile x messenger ribonucleoprotein 1 (dfmr1)-the ortholog of human fmr1, which causes fragile x syndrome and is the most common monogenetic cause of intellectual disability and autism spectrum disorder. |
2024-02-01 |
2024-02-04 |
human |
| Heleen M Van't Spijker, Joel D Richte. FMRP regulation of aggrecan mRNA translation controls perineuronal net development. Journal of neurochemistry. 2024-01-15. PMID:38225196. |
pnn formation is disrupted in fragile x syndrome, which is caused by silencing of the fragile x messenger ribonucleoprotein 1 (fmr1) gene and loss of its protein product fmrp. |
2024-01-15 |
2024-01-18 |
mouse |