| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Taro Chaya, Hiroshi Ishikane, Leah R Varner, Yuko Sugita, Yamato Maeda, Ryotaro Tsutsumi, Daisuke Motooka, Daisuke Okuzaki, Takahisa Furukaw. Deficiency of the neurodevelopmental disorder-associated gene Cyfip2 alters the retinal ganglion cell properties and visual acuity. Human molecular genetics. 2021-09-11. PMID:34508581. |
cytoplasmic fragile x mental retardation 1 (fmr1)-interacting protein 2 (cyfip2) is an interacting partner of the fmr protein, whose loss results in fragile x syndrome, the most common inherited cause of id. |
2021-09-11 |
2023-08-13 |
mouse |
| Ekaterina M Shitik, Anastasia A Velmiskina, Alexander A Dolskiy, Dmitry V Yudki. Reactivation of FMR1 gene expression is a promising strategy for fragile X syndrome therapy. Gene therapy. vol 27. issue 6. 2021-08-18. PMID:32203197. |
reactivation of fmr1 gene expression is a promising strategy for fragile x syndrome therapy. |
2021-08-18 |
2023-08-13 |
Not clear |
| Ekaterina M Shitik, Anastasia A Velmiskina, Alexander A Dolskiy, Dmitry V Yudki. Reactivation of FMR1 gene expression is a promising strategy for fragile X syndrome therapy. Gene therapy. vol 27. issue 6. 2021-08-18. PMID:32203197. |
fragile x syndrome (fxs) is the most common form of intellectual disability and autism spectrum disorder and is caused by cgg repeat expansion in the promoter region of the fmr1 gene, which encodes fragile x mental retardation protein. |
2021-08-18 |
2023-08-13 |
Not clear |
| Lara Costa, Alessandra Tempio, Enza Lacivita, Marcello Leopoldo, Lucia Cirann. Serotonin 5-HT7 receptors require cyclin-dependent kinase 5 to rescue hippocampal synaptic plasticity in a mouse model of Fragile X Syndrome. The European journal of neuroscience. 2021-08-18. PMID:33949019. |
electrophysiology studies in fmr1 knockout (ko) mice, a murine model of fragile x syndrome, have demonstrated alterations of synaptic plasticity, with exaggerated long-term depression induced by activation of metabotropic glutamate receptors (mglur-ltd) in fmr1 ko hippocampus. |
2021-08-18 |
2023-08-13 |
mouse |
| Lara Costa, Alessandra Tempio, Enza Lacivita, Marcello Leopoldo, Lucia Cirann. Serotonin 5-HT7 receptors require cyclin-dependent kinase 5 to rescue hippocampal synaptic plasticity in a mouse model of Fragile X Syndrome. The European journal of neuroscience. 2021-08-18. PMID:33949019. |
5-ht7 receptors require cdk5 to modulate synaptic plasticity in wild-type and rescue abnormal plasticity in fmr1 ko neurons, pointing out cdk5 as a possible novel target in fragile x syndrome. |
2021-08-18 |
2023-08-13 |
mouse |
| Farzane Vafaeie, Masoome Alerasool, Nasrin Kaseb Mojaver, Majid Mojarra. Fragile X Syndrome in a Female With Homozygous Full-Mutation Alleles of the FMR1 Gene. Cureus. vol 13. issue 7. 2021-08-17. PMID:34395123. |
fragile x syndrome in a female with homozygous full-mutation alleles of the fmr1 gene. |
2021-08-17 |
2023-08-13 |
Not clear |
| Emilie Erbs, Jesper Fenger-Grøn, Cecilie Mondrup Jacobsen, Dorte Launholt Lildballe, Maria Rasmusse. Spontaneous rescue of a FMR1 repeat expansion and review of deletions in the FMR1 non-coding region. European journal of medical genetics. vol 64. issue 8. 2021-08-10. PMID:34022415. |
fragile x syndrome (fxs) is caused by cgg-repeat expansion in the 5' utr of fmr1 of >200 repeats. |
2021-08-10 |
2023-08-13 |
Not clear |
| Noriko Watanabe, Kohei Kitada, Katherine E Santostefano, Airi Yokoyama, Sara M Waldrop, Coy D Heldermon, Daisuke Tachibana, Masayasu Koyama, Amy M Meacham, Christina A Pacak, Naohiro Terad. Generation of Induced Pluripotent Stem Cells from a Female Patient with a Xq27.3-q28 Deletion to Establish Disease Models and Identify Therapies. Cellular reprogramming. vol 22. issue 4. 2021-08-04. PMID:32608992. |
the deletion site on the x chromosome includes fragile x mental retardation 1 (fmr1), the gene responsible for fragile x syndrome, which likely contributes to the patient's neurodevelopmental abnormalities. |
2021-08-04 |
2023-08-13 |
human |
| Maria Jimena Salcedo-Arellano, Ana Maria Cabal-Herrera, Ruchi Harendra Punatar, Courtney Jessica Clark, Christopher Allen Romney, Randi J Hagerma. Overlapping Molecular Pathways Leading to Autism Spectrum Disorders, Fragile X Syndrome, and Targeted Treatments. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. vol 18. issue 1. 2021-07-30. PMID:33215285. |
the full mutation of the fragile x mental retardation 1 (fmr1) gene leads to fragile x syndrome (fxs), the most common cause of monogenic origin of asd, accounting for ~ 2% of the cases. |
2021-07-30 |
2023-08-13 |
Not clear |
| Mohamed S Taha, Fereshteh Haghighi, Anja Stefanski, Saeideh Nakhaei-Rad, Neda S Kazemein Jasemi, Mohamed Aghyad Al Kabbani, Boris Görg, Masahiro Fujii, Phillip A Lang, Dieter Häussinger, Roland P Piekorz, Kai Stühler, Mohammad R Ahmadia. Novel FMRP interaction networks linked to cellular stress. The FEBS journal. vol 288. issue 3. 2021-07-26. PMID:32525608. |
silencing of the fragile x mental retardation 1 (fmr1) gene and consequently lack of synthesis of fmr protein (fmrp) are associated with fragile x syndrome, which is one of the most prevalent inherited intellectual disabilities, with additional roles in increased viral infection, liver disease, and reduced cancer risk. |
2021-07-26 |
2023-08-13 |
Not clear |
| Joel D Richter, Xinyu Zha. The molecular biology of FMRP: new insights into fragile X syndrome. Nature reviews. Neuroscience. vol 22. issue 4. 2021-07-26. PMID:33608673. |
fragile x mental retardation protein (fmrp) is the product of the fragile x mental retardation 1 gene (fmr1), a gene that - when epigenetically inactivated by a triplet nucleotide repeat expansion - causes the neurodevelopmental disorder fragile x syndrome (fxs). |
2021-07-26 |
2023-08-13 |
mouse |
| Katherine Bangert, Carly Moser, Laura Friedman, Jessica Kluse. Family as a Context for Child Development: Mothers with the FMR1 Premutation and Their Children with Fragile X Syndrome. Seminars in speech and language. vol 42. issue 4. 2021-07-26. PMID:34311480. |
family as a context for child development: mothers with the fmr1 premutation and their children with fragile x syndrome. |
2021-07-26 |
2023-08-13 |
Not clear |
| Chiara De Luca, Valérie Race, Liesbeth Keldermans, Marijke Bauters, Hilde Van Esc. Challenges in molecular diagnosis of X-linked Intellectual disability. British medical bulletin. vol 133. issue 1. 2021-07-15. PMID:32043524. |
fragile x syndrome, due to the silencing of the fmr1 gene, is the most common form of id, with a prevalence of around 1:5000 males. |
2021-07-15 |
2023-08-13 |
human |
| Alexandra Marsillo, Lovena David, Bishoy Gerges, Daniel Kerr, Rodina Sadek, Vitaliy Lasiychuk, David Salame, Youstina Soliman, Silvia Menkes, Aheli Chatterjee, Andrew Mancuso, Probal Banerje. PKC epsilon as a neonatal target to correct FXS-linked AMPA receptor translocation in the hippocampus, boost PVN oxytocin expression, and normalize adult behavior in Fmr1 knockout mice. Biochimica et biophysica acta. Molecular basis of disease. vol 1867. issue 4. 2021-07-02. PMID:33359697. |
fragile x syndrome (fxs) is an inherited developmental disorder caused by the non-expression of the fmr1 gene. |
2021-07-02 |
2023-08-13 |
mouse |
| Simona D'Antoni, Lidia de Bari, Daniela Valenti, Marina Borro, Carmela Maria Bonaccorso, Maurizio Simmaco, Rosa Anna Vacca, Maria Vincenza Catani. Aberrant mitochondrial bioenergetics in the cerebral cortex of the Fmr1 knockout mouse model of fragile X syndrome. Biological chemistry. vol 401. issue 4. 2021-06-24. PMID:31702995. |
aberrant mitochondrial bioenergetics in the cerebral cortex of the fmr1 knockout mouse model of fragile x syndrome. |
2021-06-24 |
2023-08-13 |
mouse |
| John D Graef, Hao Wu, Carrie Ng, Chicheng Sun, Vivian Villegas, Deena Qadir, Kimberly Jesseman, Stephen T Warren, Rudolf Jaenisch, Angela Cacace, Owen Wallac. Partial FMRP expression is sufficient to normalize neuronal hyperactivity in Fragile X neurons. The European journal of neuroscience. vol 51. issue 10. 2021-06-21. PMID:31880363. |
fragile x syndrome (fxs) is the most common genetic form of intellectual disability caused by a cgg repeat expansion in the 5'-utr of the fragile x mental retardation gene fmr1, triggering epigenetic silencing and the subsequent absence of the protein, fmrp. |
2021-06-21 |
2023-08-13 |
Not clear |
| Dušica Briševac, Ralf Scholz, Dan Du, Mohammad Nael Elagabani, Georg Köhr, Hans-Christian Korna. The small GTPase Arf6 is dysregulated in a mouse model for fragile X syndrome. Journal of neurochemistry. vol 157. issue 3. 2021-06-21. PMID:33125726. |
fragile x syndrome (fxs), the most common inherited cause of intellectual disability, results from silencing of the fragile x mental retardation gene 1 (fmr1). |
2021-06-21 |
2023-08-13 |
mouse |
| Andrea Schneider, Tri Indah Winarni, Ana María Cabal-Herrera, Susan Bacalman, Louise Gane, Paul Hagerman, Flora Tassone, Randi Hagerma. Elevated FMR1-mRNA and lowered FMRP - A double-hit mechanism for psychiatric features in men with FMR1 premutations. Translational psychiatry. vol 10. issue 1. 2021-06-18. PMID:32576818. |
fragile x syndrome (fxs) is caused by a full mutation of the fmr1 gene (>200 cgg repeats and subsequent methylation), such that there is little or no fmr1 protein (fmrp) produced, leading to intellectual disability (id). |
2021-06-18 |
2023-08-13 |
Not clear |
| Carla E M Golden, Yohan Yee, Victoria X Wang, Hala Harony-Nicolas, Patrick R Hof, Jason P Lerch, Joseph D Buxbau. Reduced axonal caliber and structural changes in a rat model of Fragile X syndrome with a deletion of a K-Homology domain of Fmr1. Translational psychiatry. vol 10. issue 1. 2021-06-18. PMID:32788572. |
reduced axonal caliber and structural changes in a rat model of fragile x syndrome with a deletion of a k-homology domain of fmr1. |
2021-06-18 |
2023-08-13 |
rat |
| Carla E M Golden, Yohan Yee, Victoria X Wang, Hala Harony-Nicolas, Patrick R Hof, Jason P Lerch, Joseph D Buxbau. Reduced axonal caliber and structural changes in a rat model of Fragile X syndrome with a deletion of a K-Homology domain of Fmr1. Translational psychiatry. vol 10. issue 1. 2021-06-18. PMID:32788572. |
fragile x syndrome (fxs) is a neurodevelopmental disorder that is caused by mutations in the fmr1 gene. |
2021-06-18 |
2023-08-13 |
rat |