| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Indhu-Shree Rajan-Babu, Gui Ping Phang, Hai-Yang Law, Caroline G Lee, Samuel S Chon. High-Throughput Methylation-Specific Triplet-Primed PCR and Melting Curve Analysis for Selective and Reliable Identification of Actionable FMR1 Genotypes. The Journal of molecular diagnostics : JMD. 2022-01-17. PMID:35038595. |
methylated fmr1 full-mutation expansions cause fragile x syndrome. |
2022-01-17 |
2023-08-13 |
Not clear |
| Jin-Yu Zhang, Ding-Wen Wu, Ru-Lai Yang, Lin Zhu, Meng-Yi Jiang, Wen-Jun Wang, Xue-Kun Li, Xiao-Ling Jiang, Fan Tong, Qiang Sh. FMR1 allele frequencies in 51,000 newborns: a large-scale population study in China. World journal of pediatrics : WJP. vol 17. issue 6. 2021-12-03. PMID:34738199. |
fragile x syndrome (fxs), caused by cgg-repeat expansion in fmr1 promoter, is one of the most common causes of mental retardation. |
2021-12-03 |
2023-08-13 |
Not clear |
| Qi Ding, Xueting Wu, Xuan Li, Hongbing Wan. Vorinostat corrects cognitive and non-cognitive symptoms in a mouse model of fragile X syndrome. The international journal of neuropsychopharmacology. 2021-11-18. PMID:34791268. |
fragile x syndrome (fxs) is caused by mutations in the fmr1 gene. |
2021-11-18 |
2023-08-13 |
mouse |
| Maria Mody, Yoann Petibon, Paul Han, Darshini Kuruppu, Chao Ma, Daniel Yokell, Ramesh Neelamegam, Marc D Normandin, Georges El Fakhri, Anna-Liisa Brownel. In vivo imaging of mGlu5 receptor expression in humans with Fragile X Syndrome towards development of a potential biomarker. Scientific reports. vol 11. issue 1. 2021-11-08. PMID:34354107. |
fragile x syndrome (fxs) is a neurodevelopmental disorder caused by silencing of the fragile x mental retardation (fmr1) gene. |
2021-11-08 |
2023-08-13 |
Not clear |
| Nisha Raj, Zachary T McEachin, William Harousseau, Ying Zhou, Feiran Zhang, Megan E Merritt-Garza, J Matthew Taliaferro, Magdalena Kalinowska, Samuele G Marro, Chadwick M Hales, Elizabeth Berry-Kravis, Marisol W Wolf-Ochoa, Veronica Martinez-Cerdeño, Marius Wernig, Lu Chen, Eric Klann, Stephen T Warren, Peng Jin, Zhexing Wen, Gary J Bassel. Cell-type-specific profiling of human cellular models of fragile X syndrome reveal PI3K-dependent defects in translation and neurogenesis. Cell reports. vol 35. issue 2. 2021-11-05. PMID:33852833. |
transcriptional silencing of the fmr1 gene in fragile x syndrome (fxs) leads to the loss of the rna-binding protein fmrp. |
2021-11-05 |
2023-08-13 |
human |
| Michael Rosenheck, Carrie Sheeler, Rachel Michelle Saré, Mark E Gurney, Carolyn Beebe Smit. Effects of chronic inhibition of phosphodiesterase-4D on behavior and regional rates of cerebral protein synthesis in a mouse model of fragile X syndrome. Neurobiology of disease. vol 159. 2021-11-03. PMID:34411704. |
fragile x syndrome (fxs) is caused by silencing the fmr1 gene which results in intellectual disability, hyperactivity, sensory hypersensitivity, autistic-like behavior, and susceptibility to seizures. |
2021-11-03 |
2023-08-13 |
mouse |
| Mélodie Proteau-Lemieux, Angélina Lacroix, Luc Galarneau, François Corbin, Jean-François Lepage, Artuela Çak. The safety and efficacy of metformin in fragile X syndrome: An open-label study. Progress in neuro-psychopharmacology & biological psychiatry. vol 110. 2021-11-01. PMID:33757860. |
fragile x syndrome (fxs) is a rare genetic disorder characterized by a deficit of the fragile x mental retardation protein (fmrp), encoded by the fragile x mental retardation gene (fmr1) on the x chromosome. |
2021-11-01 |
2023-08-13 |
mouse |
| Carly Moser, Laura Mattie, Leonard Abbeduto, Jessica Kluse. The FMR1 Premutation Phenotype and Mother-Youth Synchrony in Fragile X Syndrome. American journal on intellectual and developmental disabilities. vol 126. issue 6. 2021-11-01. PMID:34700350. |
the fmr1 premutation phenotype and mother-youth synchrony in fragile x syndrome. |
2021-11-01 |
2023-08-13 |
Not clear |
| Carly Moser, Laura Mattie, Leonard Abbeduto, Jessica Kluse. The FMR1 Premutation Phenotype and Mother-Youth Synchrony in Fragile X Syndrome. American journal on intellectual and developmental disabilities. vol 126. issue 6. 2021-11-01. PMID:34700350. |
this study examined the association between the fmr1 phenotype and the quality of interactions between mothers and their adolescent/young adult sons with fragile x syndrome. |
2021-11-01 |
2023-08-13 |
Not clear |
| Tatyana Adayev, Giuseppe LaFauci, Weimin Xu, Carl Dobkin, Richard Kascsak, W Ted Brown, Jeffrey H Goodma. Development of a Quantitative FMRP Assay for Mouse Tissue Applications. Genes. vol 12. issue 10. 2021-10-26. PMID:34680911. |
fragile x syndrome results from the absence of the fmr1 gene product-fragile x mental retardation protein (fmrp). |
2021-10-26 |
2023-08-13 |
mouse |
| Sigan L Hartley, Marsha Mailick Seltzer, Jinkuk Hong, Jan S Greenberg, Leann Smith, David Almeida, Chris Coe, Leonard Abbedut. Cortisol response to behavior problems in FMR1 premutation mothers of adolescents and adults with fragile X syndrome: A diathesis-stress model. International journal of behavioral development. vol 36. issue 1. 2021-10-21. PMID:22798702. |
cortisol response to behavior problems in fmr1 premutation mothers of adolescents and adults with fragile x syndrome: a diathesis-stress model. |
2021-10-21 |
2023-08-12 |
Not clear |
| Marsha Mailick Seltzer, Leonard Abbeduto, Jan S Greenberg, David Almeida, Jinkuk Hong, Whitney Wit. Biomarkers in the Study of Families of Individuals with Developmental Disabilities. International review of research in mental retardation. vol 37. 2021-10-20. PMID:20414357. |
we focus on two examples: (1) variations in the fmr1 gene, fmrp, and fmr1 messenger rna in mothers of children with fragile x syndrome and the association of these measures with maternal depression and anxiety; and (2) profiles of cortisol expression in mothers of children with disabilities and the association of cortisol with daily measures of caregiving stress. |
2021-10-20 |
2023-08-12 |
Not clear |
| Jenny L Fulks, Bliss E O'Bryhim, Sara K Wenzel, Stephen C Fowler, Elena Vorontsova, Jonathan W Pinkston, Andrea N Ortiz, Michael A Johnso. Dopamine Release and Uptake Impairments and Behavioral Alterations Observed in Mice that Model Fragile X Mental Retardation Syndrome. ACS chemical neuroscience. vol 1. issue 10. 2021-10-20. PMID:21116467. |
in this study we evaluated the relationship between amphetamine-induced behavioral alterations and dopamine release and uptake characteristics in fmr1 knockout (fmr1 ko) mice, which model fragile x syndrome. |
2021-10-20 |
2023-08-12 |
mouse |
| Carlo Brighi, Federico Salaris, Alessandro Soloperto, Federica Cordella, Silvia Ghirga, Valeria de Turris, Maria Rosito, Pier Francesca Porceddu, Chiara D'Antoni, Angelo Reggiani, Alessandro Rosa, Silvia Di Angelantoni. Novel fragile X syndrome 2D and 3D brain models based on human isogenic FMRP-KO iPSCs. Cell death & disease. vol 12. issue 5. 2021-10-14. PMID:33993189. |
fragile x syndrome (fxs) is a neurodevelopmental disorder, characterized by intellectual disability and sensory deficits, caused by epigenetic silencing of the fmr1 gene and subsequent loss of its protein product, fragile x mental retardation protein (fmrp). |
2021-10-14 |
2023-08-13 |
mouse |
| Dai-Chi Liu, Kwan Young Lee, Simon Lizarazo, Jessie K Cook, Nien-Pei Tsa. ER stress-induced modulation of neural activity and seizure susceptibility is impaired in a fragile X syndrome mouse model. Neurobiology of disease. vol 158. 2021-10-14. PMID:34303799. |
imbalanced neuronal excitability homeostasis is commonly observed in patients with fragile x syndrome (fxs) and the animal model of fxs, the fmr1 ko. |
2021-10-14 |
2023-08-13 |
mouse |
| Jinkuk Hong, Amita Kapoor, Leann Smith DaWalt, Nell Maltman, Bryan Kim, Elizabeth M Berry-Kravis, David Almeida, Christopher Coe, Marsha Mailic. Stress and genetics influence hair cortisol in FMR1 premutation carrier mothers of children with fragile X syndrome. Psychoneuroendocrinology. vol 129. 2021-10-11. PMID:34020265. |
stress and genetics influence hair cortisol in fmr1 premutation carrier mothers of children with fragile x syndrome. |
2021-10-11 |
2023-08-13 |
human |
| Karo Talvio, Katja M Kanninen, Anthony R White, Jari Koistinaho, Maija L Castré. Increased iron content in the heart of the Fmr1 knockout mouse. Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine. vol 34. issue 4. 2021-10-11. PMID:34089433. |
we assessed the concentrations of 23 trace minerals in different tissues (brain, spleen, heart and liver) of fmr1 knockout (ko) mice that display the main phenotype of fragile x syndrome (fxs), an intellectual disability syndrome and the best-known monogenic model of autism spectrum disorder (asd). |
2021-10-11 |
2023-08-13 |
mouse |
| Sneha Shah, Joel D Richte. Do Fragile X Syndrome and Other Intellectual Disorders Converge at Aberrant Pre-mRNA Splicing? Frontiers in psychiatry. vol 12. 2021-09-29. PMID:34566717. |
fragile x syndrome is a neuro-developmental disorder caused by the silencing of the fmr1 gene, resulting in the loss of its protein product, fmrp. |
2021-09-29 |
2023-08-13 |
mouse |
| Jason Arsenault, Alexander W M Hooper, Shervin Gholizadeh, Tian Kong, Laura K Pacey, Enea Koxhioni, Yosuke Niibori, James H Eubanks, Lu-Yang Wang, David R Hampso. Interregulation between fragile X mental retardation protein and methyl CpG binding protein 2 in the mouse posterior cerebral cortex. Human molecular genetics. vol 29. issue 23. 2021-09-28. PMID:33084871. |
several x-linked neurodevelopmental disorders including rett syndrome, induced by mutations in the mecp2 gene, and fragile x syndrome (fxs), caused by mutations in the fmr1 gene, share autism-related features. |
2021-09-28 |
2023-08-13 |
mouse |
| Essra Bartlett, Alison D Archibald, David Francis, Ling Ling, Rob Thomas, Gabrielle Chandler, Lisa Ward, Gemma O'Farrell, Alison Pandelache, Martin B Delatycki, Bruce H Bennetts, Gladys Ho, Katrina Fisk, Emma K Baker, David J Amor, David E Godle. Paternal retraction of a fragile X allele to normal size, showing normal function over two generations. American journal of medical genetics. Part A. 2021-09-21. PMID:34545686. |
the fmr1 premutation (pm:55-199 cgg) is associated with fragile x-associated tremor/ataxia syndrome (fxtas) and when maternally transmitted is at risk of expansion to a hypermethylated full mutation (fm: ≥ 200 cgg) that causes fragile x syndrome (fxs). |
2021-09-21 |
2023-08-13 |
Not clear |