| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Dan Vershkov, Nina Fainstein, Sapir Suissa, Tamar Golan-Lev, Tamir Ben-Hur, Nissim Benvenist. FMR1 Reactivating Treatments in Fragile X iPSC-Derived Neural Progenitors In Vitro and In Vivo. Cell reports. vol 26. issue 10. 2020-06-05. PMID:30840878. |
fragile x syndrome (fxs) is caused primarily by a cgg repeat expansion in the fmr1 gene that triggers its transcriptional silencing. |
2020-06-05 |
2023-08-13 |
mouse |
| Frankie H F Lee, Terence K Y Lai, Ping Su, Fang Li. Altered cortical Cytoarchitecture in the Fmr1 knockout mouse. Molecular brain. vol 12. issue 1. 2020-05-26. PMID:31200759. |
fragile x syndrome (fxs) is a neurodevelopmental disorder caused by silencing of the fmr1 gene and subsequent loss of its protein product, fragile x retardation protein (fmrp). |
2020-05-26 |
2023-08-13 |
mouse |
| Marco Carotenuto, Michele Roccella, Francesco Pisani, Sara Matricardi, Alberto Verrotti, Giovanni Farello, Francesca Felicia Operto, Ilaria Bitetti, Francesco Precenzano, Giovanni Messina, Maria Ruberto, Cristiana Ciunfrini, Mariagrazia Riccardi, Eugenio Merolla, Grazia Maria Giovanna Pastorino, Anna Nunzia Polito, Rosa Marott. Polysomnographic Findings in Fragile X Syndrome Children with EEG Abnormalities. Behavioural neurology. vol 2019. 2020-05-18. PMID:31885726. |
fragile x syndrome (fxs) is a genetic syndrome with intellectual disability due to the loss of expression of the fmr1 gene located on chromosome x (xq27.3). |
2020-05-18 |
2023-08-13 |
human |
| Mariel Ormazábal, Andrea Solari, Lucía Espeche, Tania Castro, Noemí Buzzalin. [Fragile X syndrome and other entities associated with the FMR1 gene: Study of 28 affected families]. Archivos argentinos de pediatria. vol 117. issue 3. 2020-05-13. PMID:31063313. |
[fragile x syndrome and other entities associated with the fmr1 gene: study of 28 affected families]. |
2020-05-13 |
2023-08-13 |
Not clear |
| Mariel Ormazábal, Andrea Solari, Lucía Espeche, Tania Castro, Noemí Buzzalin. [Fragile X syndrome and other entities associated with the FMR1 gene: Study of 28 affected families]. Archivos argentinos de pediatria. vol 117. issue 3. 2020-05-13. PMID:31063313. |
the fragile x syndrome occurs due to an expansion of cgg trinucleotides, called full mutation, which is found at the xq27.3 locus of the fmr1 gene. |
2020-05-13 |
2023-08-13 |
Not clear |
| Chao Wu, Xiaoling Zhang, Pan Chen, Xiangbin Ruan, Wei Liu, Yanchao Li, Changjie Sun, Lin Hou, Bin Yin, Boqin Qiang, Pengcheng Shu, Xiaozhong Pen. MicroRNA-129 modulates neuronal migration by targeting Fmr1 in the developing mouse cortex. Cell death & disease. vol 10. issue 4. 2020-05-05. PMID:30911036. |
in addition, we showed that fragile x mental retardation gene 1 (fmr1), which is mutated in the autism spectrum disorder fragile x syndrome, is an important regulatory target for mir-129-5p. |
2020-05-05 |
2023-08-13 |
mouse |
| Sohani Das Sharma, Jordan B Metz, Hongyu Li, Benjamin D Hobson, Nicholas Hornstein, David Sulzer, Guomei Tang, Peter A Sim. Widespread Alterations in Translation Elongation in the Brain of Juvenile Fmr1 Knockout Mice. Cell reports. vol 26. issue 12. 2020-04-29. PMID:30893603. |
fmrp (fragile x mental retardation protein) is a polysome-associated rna-binding protein encoded by fmr1 that is lost in fragile x syndrome. |
2020-04-29 |
2023-08-13 |
mouse |
| Subhajit Giri, Meera Purushottam, Biju Viswanath, Ravi S Muddashett. Generation of a FMR1 homozygous knockout human embryonic stem cell line (WAe009-A-16) by CRISPR/Cas9 editing. Stem cell research. vol 39. 2020-04-27. PMID:31280136. |
mutations in fmr1 gene is the cause of fragile x syndrome (fxs) leading inherited cause of intellectual disability and autism spectrum disorders. |
2020-04-27 |
2023-08-13 |
human |
| Timothy D Folsom, LeeAnn Higgins, Todd W Markowski, Timothy J Griffin, S Hossein Fatem. Quantitative proteomics of forebrain subcellular fractions in fragile X mental retardation 1 knockout mice following acute treatment with 2-Methyl-6-(phenylethynyl)pyridine: Relevance to developmental study of schizophrenia. Synapse (New York, N.Y.). vol 73. issue 1. 2020-04-22. PMID:30176067. |
the fragile x mental retardation 1 knockout (fmr1 ko) mouse replicates behavioral deficits associated with autism, fragile x syndrome, and schizophrenia. |
2020-04-22 |
2023-08-13 |
mouse |
| Kyoungmi Kim, David Hessl, Jamie L Randol, Glenda M Espinal, Andrea Schneider, Dragana Protic, Elber Yuksel Aydin, Randi J Hagerman, Paul J Hagerma. Association between IQ and FMR1 protein (FMRP) across the spectrum of CGG repeat expansions. PloS one. vol 14. issue 12. 2020-04-06. PMID:31891607. |
fragile x syndrome, the leading heritable form of intellectual disability, is caused by hypermethylation and transcriptional silencing of large (cgg) repeat expansions (> 200 repeats) in the 5' untranslated region of the fragile x mental retardation 1 (fmr1) gene. |
2020-04-06 |
2023-08-13 |
Not clear |
| Séverine Bacrot, Sophie Monnot, Georges Haddad, Giulia Barcia, Myriam Rachid, Marie Boisson, Nathalie Pasquier, Sophie Rondeau, Arnold Munnich, Julie Steffann, Jean-Paul Bonnefont, Martine Raynau. Prenatal diagnosis of fragile X syndrome: Small meiotic recombination events at the FMR1 locus. Prenatal diagnosis. vol 39. issue 5. 2020-03-12. PMID:30779209. |
prenatal diagnosis of fragile x syndrome: small meiotic recombination events at the fmr1 locus. |
2020-03-12 |
2023-08-13 |
Not clear |
| Jerzy Zieba, Duncan Sinclair, Terri Sebree, Marcel Bonn-Miller, Donna Gutterman, Steven Siegel, Tim Kar. Cannabidiol (CBD) reduces anxiety-related behavior in mice via an FMRP-independent mechanism. Pharmacology, biochemistry, and behavior. vol 181. 2020-02-25. PMID:31063743. |
fragile x syndrome is a neurodevelopmental disorder which affects intellectual, social and physical development due to mutation of the fragile x mental retardation 1 (fmr1) gene. |
2020-02-25 |
2023-08-13 |
mouse |
| Saida Lahbib, Mediha Trabelsi, Hamza Dallali, Rania Sakka, Rym Bourourou, Rym Kefi, Ridha Mrad, Sonia Abdelhak, Naoufel Gaddou. Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family. Molecular biology reports. vol 46. issue 4. 2020-02-14. PMID:31098807. |
through fragile x syndrome test, we identified the full fmr1 mutation in only two males. |
2020-02-14 |
2023-08-13 |
Not clear |
| Veronica Nobile, Federica Palumbo, Stella Lanni, Valentina Ghisio, Alberto Vitali, Massimo Castagnola, Valeria Marzano, Giuseppe Maulucci, Claudio De Angelis, Marco De Spirito, Laura Pacini, Laura D'Andrea, Rino Ragno, Giulia Stazi, Sergio Valente, Antonello Mai, Pietro Chiurazzi, Maurizio Genuardi, Giovanni Neri, Elisabetta Tabolacc. Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene. Human genetics. vol 139. issue 2. 2020-02-05. PMID:31919630. |
as the cgg sequence expands from premutation (pm, 56-200 cggs) to full mutation (> 200 cggs), fmrp synthesis decreases until it is practically abolished in fragile x syndrome (fxs) patients, mainly due to fmr1 methylation. |
2020-02-05 |
2023-08-13 |
Not clear |
| Brett DeMarco, Snezana Stefanovic, Allison Williams, Kathryn R Moss, Bart R Anderson, Gary J Bassell, Mihaela Rita Mihailesc. FMRP - G-quadruplex mRNA - miR-125a interactions: Implications for miR-125a mediated translation regulation of PSD-95 mRNA. PloS one. vol 14. issue 5. 2020-02-03. PMID:31112584. |
fragile x syndrome, the most common inherited form of intellectual disability, is caused by the cgg trinucleotide expansion in the 5'-untranslated region of the fmr1 gene on the x chromosome, which silences the expression of the fragile x mental retardation protein (fmrp). |
2020-02-03 |
2023-08-13 |
Not clear |
| Ji Yoon Han, Woori Jang, Joonhong Park, Myungshin Kim, Yonggoo Kim, In Goo Le. Diagnostic approach with genetic tests for global developmental delay and/or intellectual disability: Single tertiary center experience. Annals of human genetics. vol 83. issue 3. 2020-01-29. PMID:30402882. |
then, two fragile x syndrome (3%, 2/75) were confirmed by fmr1 gene fragment analysis. |
2020-01-29 |
2023-08-13 |
Not clear |
| Shumaia Parvin, Renoma Takeda, Yu Sugiura, Makiko Neyazaki, Terukazu Nogi, Yukio Sasak. Fragile X mental retardation protein regulates accumulation of the active zone protein Munc18-1 in presynapses via local translation in axons during synaptogenesis. Neuroscience research. vol 146. 2020-01-27. PMID:30240639. |
fragile x mental retardation protein (fmrp), a causative gene (fmr1) product of fragile x syndrome (fxs), is an rna-binding protein to regulate local protein synthesis in dendrites for postsynaptic functions. |
2020-01-27 |
2023-08-13 |
mouse |
| Jeya Bharathi S, Balamanikandan . Spectral Analysis of Codons in the DNA Sequence of Fragile X Syndrome. Journal of medical systems. vol 43. issue 8. 2020-01-15. PMID:31267258. |
there are frequent studies undergoing related to the fragile x syndrome caused due to the triplet cgg replicates on the x chromosome of fragile x mental retardation 1 (fmr1) gene. |
2020-01-15 |
2023-08-13 |
Not clear |
| Jessica Ezzell Hunter, Charisma L Jenkins, Valerie Grim, Sue Leung, Krista H Charen, Debra R Hamilton, Emily G Allen, Stephanie L Sherma. Feasibility of an app-based mindfulness intervention among women with an FMR1 premutation experiencing maternal stress. Research in developmental disabilities. vol 89. 2019-12-09. PMID:30959430. |
women who carry an fmr1 premutation (pm) allele and are mothers of children with fragile x syndrome (fxs) experience elevated maternal stress. |
2019-12-09 |
2023-08-13 |
Not clear |
| James N Macpherson, Anna Murra. Development of Genetic Testing for Fragile X Syndrome and Associated Disorders, and Estimates of the Prevalence of FMR1 Expansion Mutations. Genes. vol 7. issue 12. 2019-11-20. PMID:27916885. |
development of genetic testing for fragile x syndrome and associated disorders, and estimates of the prevalence of fmr1 expansion mutations. |
2019-11-20 |
2023-08-13 |
human |