| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Molly E Mitchell, Lauren C Cook, Stephanie Shiers, Diana Tavares-Ferreira, Armen N Akopian, Gregory Dussor, Theodore J Pric. Characterization of Fragile X Mental Retardation Protein expression in human nociceptors and their axonal projections to the spinal dorsal horn. The Journal of comparative neurology. 2023-02-22. PMID:36808110. |
mutations in the fmr1 gene that hinder or ablate fmrp function cause fragile x syndrome (fxs), a disorder associated with sensory processing dysfunction. |
2023-02-22 |
2023-08-14 |
mouse |
| Hideo Shimizu, Hirohiko Hohjo. FMRP, FXR1 protein and Dlg4 mRNA, which are associated with fragile X syndrome, are involved in the ubiquitin-proteasome system. Scientific reports. vol 13. issue 1. 2023-02-02. PMID:36732356. |
here we show novel ups-related factors: the fragile x mental retardation 1 (fmr1) and fmr1 autosomal homolog 1 (fxr1) proteins and discs large maguk scaffold protein 4 (dlg4) mrna, which are associated with fragile x syndrome, are involved in ups activity. |
2023-02-02 |
2023-08-14 |
Not clear |
| Mei-Mei Gao, Hang Shi, Hua-Juan Yan, Yue-Sheng Lon. Proteome profiling of the prefrontal cortex of Fmr1 knockout mouse reveals enhancement of complement and coagulation cascades. Journal of proteomics. 2023-01-16. PMID:36646274. |
fragile x mental retardation protein (fmrp) deficit resulted from mutations in its encoded fragile x mental retardation 1 (fmr1) gene is a common inherited cause of fragile x syndrome (fxs) characterized by intellectual disability and autism spectrum disorder (asd). |
2023-01-16 |
2023-08-14 |
mouse |
| Baiyan Ren, Maria Burkovetskaya, Yoosun Jung, Lara Bergdolt, Steven Totusek, Veronica Martinez-Cerdeno, Kelly Stauch, Zeljka Korade, Anna Dunaevsk. Dysregulated cholesterol metabolism, aberrant excitability and altered cell cycle of astrocytes in fragile X syndrome. Glia. 2023-01-03. PMID:36594399. |
fragile x syndrome (fxs), the most prevalent heritable form of intellectual disability, is caused by the transcriptional silencing of the fmr1 gene. |
2023-01-03 |
2023-08-14 |
human |
| Karo Talvio, Rimante Minkeviciene, Kayla G Townsley, Venkat Swaroop Achuta, Laura M Huckins, Padraic Corcoran, Kristen J Brennand, Maija L Castré. Reduced Frontiers in cell and developmental biology. vol 10. 2022-12-12. PMID:36506088. |
reduced lack of fmr1 protein results in fragile x syndrome (fxs), which is the most common inherited intellectual disability syndrome and serves as an excellent model disease to study molecular mechanisms resulting in neuropsychiatric comorbidities. |
2022-12-12 |
2023-08-14 |
human |
| Isha Jalnapurkar, Jean A Frazier, Mark Roth, David M Cochran, Ann Foley, Taylor Merk, Lauren Venuti, Lucienne Ronco, Shane Raines, Diego Cadavi. The feasibility and utility of hair follicle sampling to measure FMRP and FMR1 mRNA in children with or without fragile X syndrome: a pilot study. Journal of neurodevelopmental disorders. vol 14. issue 1. 2022-12-09. PMID:36494616. |
the feasibility and utility of hair follicle sampling to measure fmrp and fmr1 mrna in children with or without fragile x syndrome: a pilot study. |
2022-12-09 |
2023-08-14 |
Not clear |
| Yujeong Kim, Se Jin Jeon, Edson Luck Gonzales, Dongpil Shin, Chilly Gay Remonde, TaeJin Ahn, Chan Young Shi. Pirenperone relieves the symptoms of fragile X syndrome in Fmr1 knockout mice. Scientific reports. vol 12. issue 1. 2022-12-05. PMID:36470953. |
pirenperone relieves the symptoms of fragile x syndrome in fmr1 knockout mice. |
2022-12-05 |
2023-08-14 |
mouse |
| Jordan E Norris, Lisa A DeStefano, Lauren M Schmitt, Ernest V Pedapati, Craig A Erickson, John A Sweeney, Lauren E Ethridg. Hemispheric Utilization of Alpha Oscillatory Dynamics as a Unique Biomarker of Neural Compensation in Females with Fragile X Syndrome. ACS chemical neuroscience. 2022-11-21. PMID:36411085. |
fragile x syndrome (fxs) is a neurodevelopmental disorder caused by a trinucleotide expansion on the fmr1 gene and characterized by intellectual disability, sensory hypersensitivity, executive function difficulties, and social anxiety. |
2022-11-21 |
2023-08-14 |
Not clear |
| Emma K Baker, Marta Arpone, Minh Bui, Claudine M Kraan, Ling Ling, David Francis, Mathew F Hunter, Carolyn Rogers, Michael J Field, Lorena Santa María, Víctor Faundes, Bianca Curotto, Paulina Morales, Cesar Trigo, Isabel Salas, Angelica M Alliende, David J Amor, David E Godle. Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome. American journal of medical genetics. Part A. 2022-11-09. PMID:36349505. |
tissue mosaicism, fmr1 expression and intellectual functioning in males with fragile x syndrome. |
2022-11-09 |
2023-08-14 |
Not clear |
| Emma K Baker, Marta Arpone, Minh Bui, Claudine M Kraan, Ling Ling, David Francis, Mathew F Hunter, Carolyn Rogers, Michael J Field, Lorena Santa María, Víctor Faundes, Bianca Curotto, Paulina Morales, Cesar Trigo, Isabel Salas, Angelica M Alliende, David J Amor, David E Godle. Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome. American journal of medical genetics. Part A. 2022-11-09. PMID:36349505. |
fragile x syndrome (fxs) is caused by hypermethylation of the fmr1 promoter due to the full mutation expansion (full mutation [fm]: cgg ≥ 200 repeats) and silencing of fmr1. |
2022-11-09 |
2023-08-14 |
Not clear |
| Amy A Lightbody, Kristi L Bartholomay, Tracy L Jordan, Cindy H Lee, Jonas G Miller, Allan L Reis. Anxiety, Depression, and Social Skills in Girls with Fragile X Syndrome: Understanding the Cycle to Improve Outcomes. Journal of developmental and behavioral pediatrics : JDBP. 2022-10-11. PMID:36219483. |
female patients with fragile x syndrome (fxs), a genetic condition associated with a mutation in the fmr1 gene, are at significantly elevated risk for developing anxiety and depression. |
2022-10-11 |
2023-08-14 |
Not clear |
| Qiaowei Liang, Yingdi Liu, Yaning Liu, Ranhui Duan, Wanli Meng, Jiahan Zhan, Jiahui Xia, Aiping Mao, Desheng Liang, Lingqian W. Comprehensive Analysis of Fragile X Syndrome: Full Characterization of the FMR1 Locus by Long-Read Sequencing. Clinical chemistry. 2022-09-28. PMID:36171182. |
comprehensive analysis of fragile x syndrome: full characterization of the fmr1 locus by long-read sequencing. |
2022-09-28 |
2023-08-14 |
Not clear |
| Ianina C Ferder, Lucía D Espeche, Carlos D Bruque, Fernanda Parborell, Marta Tesone, Liliana Dai. Expression and characterisation of Fmr1 splice variants during folliculogenesis in the rat. Reproduction, fertility, and development. 2022-09-18. PMID:36116785. |
fmr1 is involved in four genetic disorders depending on the cgg repeats length in its 5'utr: the full mutation is responsible for the fragile x syndrome while the premutation is associated with the fragile x-associated tremor/ataxia syndrome, fragile x-associated primary ovarian insufficiency (fxpoi) and fragile x-associated neuropsychiatric disorders. |
2022-09-18 |
2023-08-14 |
rat |
| Aadil Yousuf, Nadeem Ahmed, Abrar Qurash. Non-canonical DNA/RNA structures associated with the pathogenesis of Fragile X-associated tremor/ataxia syndrome and Fragile X syndrome. Frontiers in genetics. vol 13. 2022-09-16. PMID:36110216. |
fragile x-associated tremor/ataxia syndrome (fxtas) and fragile x syndrome (fxs) are primary examples of fragile x-related disorders (fxds) caused by abnormal expansion of cgg repeats above a certain threshold in the 5'-untranslated region of the fragile x mental retardation (fmr1) gene. |
2022-09-16 |
2023-08-14 |
Not clear |
| Jessica L Huebschman, Carolina A Monterrey, Dorothy M Foster, Chris C Omoregie, Alp E Cakir, Adrian Sevilla-Gutierrez, Elsbeth C Chow, Amanda Essoh, Yuhong Guo, Laura N Smit. The role of the dorsal striatum in a mouse model for fragile X syndrome: Behavioral and dendritic spine assessment. Brain research. 2022-08-28. PMID:36030973. |
fragile x syndrome (fxs), a leading monogenic cause of autism spectrum disorders (asds), typically occurs as the result of a mutation silencing the fmr1 gene, preventing production of the fragile x messenger ribonucleoprotein (fmrp). |
2022-08-28 |
2023-08-14 |
mouse |
| Elisabeth C DeMarco, George R Stoner, Estuardo Roble. A genetic labeling system to study dendritic spine development in zebrafish models of neurodevelopmental disorders. Disease models & mechanisms. 2022-07-25. PMID:35875841. |
the utility of this system to study neurodevelopmental disorders was validated by examining spine development in fmr1 mutant zebrafish, a model of fragile x syndrome. |
2022-07-25 |
2023-08-14 |
human |
| Igor Albizua, Krista Charen, Lisa Shubeck, Amy Talboy, Elizabeth Berry-Kravis, Walter E Kaufmann, Jennifer L Stallworth, Katy T Drazba, Craig A Erickson, John A Sweeney, Nicole Tartaglia, Steven F Warren, Randi Hagerman, Stephanie L Sherman, Stephen T Warren, Peng Jin, Emily G Alle. Descriptive analysis of seizures and comorbidities associated with fragile X syndrome. Molecular genetics & genomic medicine. 2022-07-19. PMID:35852003. |
a subset of individuals carrying the full mutation of the fmr1 gene and diagnosed with fragile x syndrome (fxs) are reported to experience seizures, mostly during the first 10 years of their life span. |
2022-07-19 |
2023-08-14 |
Not clear |
| Libiao Pan, Lu Zheng, Xiaotong Wu, Zhenggang Zhu, Siyu Wang, Yi Lu, Yang He, Qian Yang, Xiaolin Ma, Xiaomeng Wang, Hongbin Yang, Li Zhan, Yujian Luo, Xiangyao Li, Yudong Zhou, Xiaodong Wang, Jianhong Luo, Lang Wang, Shumin Duan, Hao Wan. A short period of early life oxytocin treatment rescues social behavior dysfunction via suppression of hippocampal hyperactivity in male mice. Molecular psychiatry. 2022-07-15. PMID:35840800. |
social behavior deficits in a fragile x syndrome mouse model (fmr1 ko mice) could also be recovered by early life oxt treatment, through negating dca3 over-activation. |
2022-07-15 |
2023-08-14 |
mouse |
| Magdalena Kalinowska, Mathijs B van der Lei, Michael Kitiashvili, Maggie Mamcarz, Mauricio M Oliveira, Francesco Longo, Eric Klan. Deletion of Fmr1 in parvalbumin-expressing neurons results in dysregulated translation and selective behavioral deficits associated with fragile X syndrome. Molecular autism. vol 13. issue 1. 2022-06-29. PMID:35768828. |
deletion of fmr1 in parvalbumin-expressing neurons results in dysregulated translation and selective behavioral deficits associated with fragile x syndrome. |
2022-06-29 |
2023-08-14 |
mouse |
| Keren K Griffiths, Aili Wang, Richard J Lev. Assessment of Open Probability of the Mitochondrial Permeability Transition Pore in the Setting of Coenzyme Q Excess. Journal of visualized experiments : JoVE. issue 184. 2022-06-20. PMID:35723461. |
coenzyme q (coq) is a regulator of the mptp, and tissue-specific differences have been found in coq content and open probability of the mptp in forebrain and heart mitochondria in a newborn mouse model of fragile x syndrome (fxs, fmr1 knockout). |
2022-06-20 |
2023-08-14 |
mouse |