| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Yi Tan, Carmelo Sgobio, Thomas Arzberger, Felix Machleid, Qilin Tang, Elisabeth Findeis, Jorg Tost, Tasnim Chakroun, Pan Gao, Mathias Höllerhage, Kai Bötzel, Jochen Herms, Günter Höglinger, Thomas Koeglsperge. Loss of fragile X mental retardation protein precedes Lewy pathology in Parkinson's disease. Acta neuropathologica. vol 139. issue 2. 2021-01-12. PMID:31768670. |
unlike fragile x syndrome (fxs), fmr1 expression in response to α-syn was regulated by a mechanism involving protein kinase c (pkc) and camp response element-binding protein (creb). |
2021-01-12 |
2023-08-13 |
mouse |
| Gabriela Aparecida Marcondes Suardi, Luciana Amaral Hadda. FMRP ribonucleoprotein complexes and RNA homeostasis. Advances in genetics. vol 105. 2021-01-12. PMID:32560791. |
fragile x syndrome (fxs) is the leading cause of inherited intellectual disability among men, and is most frequently due to fmr1 full mutation and consequent transcription repression. |
2021-01-12 |
2023-08-13 |
Not clear |
| Emma K Baker, Marta Arpone, Claudine Kraan, Minh Bui, Carolyn Rogers, Michael Field, Lesley Bretherton, Ling Ling, Alexandra Ure, Jonathan Cohen, Matthew F Hunter, Lorena Santa María, Victor Faundes, Bianca Curotto, Paulina Morales, Cesar Trigo, Isabel Salas, Angelica Alliende, David J Amor, David E Godle. FMR1 mRNA from full mutation alleles is associated with ABC-C Scientific reports. vol 10. issue 1. 2021-01-07. PMID:32678152. |
fmr1 mrna from full mutation alleles is associated with abc-c fragile x syndrome (fxs) is caused by a hypermethylated full mutation (fm) expansion with ≥ 200 cgg repeats, and a decrease in fmr1 mrna and its protein. |
2021-01-07 |
2023-08-13 |
Not clear |
| Maria Jimena Salcedo-Arellano, Brett Dufour, Yingratana McLennan, Veronica Martinez-Cerdeno, Randi Hagerma. Fragile X syndrome and associated disorders: Clinical aspects and pathology. Neurobiology of disease. vol 136. 2021-01-04. PMID:31927143. |
this review aims to assemble many years of research and clinical experience in the fields of neurodevelopment and neuroscience to present an up-to-date understanding of the clinical presentation, molecular and brain pathology associated with fragile x syndrome, a neurodevelopmental condition that develops with the full mutation of the fmr1 gene, located in the q27.3 loci of the x chromosome, and fragile x-associated tremor/ataxia syndrome a neurodegenerative disease experienced by aging premutation carriers of the fmr1 gene. |
2021-01-04 |
2023-08-13 |
Not clear |
| Renee Carroll, Marie Shaw, Maria Arvio, Alison Gardner, Raman Kumar, Bree Hodgson, Sarah Heron, Fiona McKenzie, Irma Järvelä, Jozef Gec. Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion. European journal of medical genetics. vol 63. issue 10. 2020-12-24. PMID:32688058. |
two novel intragenic variants in the fmr1 gene in patients with suspect clinical diagnosis of fragile x syndrome and no cgg repeat expansion. |
2020-12-24 |
2023-08-13 |
Not clear |
| Tue G Banke, Andres Barri. Transient Enhanced GluA2 Expression in Young Hippocampal Neurons of a Fragile X Mouse Model. Frontiers in synaptic neuroscience. vol 12. 2020-12-22. PMID:33343326. |
here, we have investigated the development of ampar-mediated synaptic transmission in the hippocampus of the fmr1 knock-out (ko) mouse, a widely used model of fragile x syndrome (fxs). |
2020-12-22 |
2023-08-13 |
mouse |
| Liudi Yuan, Xingjie Ren, Yongwei Zheng, Jinjun Qian, Leyi Xu, Mingkuan Su. MiR-315 is required for neural development and represses the expression of dFMR1 in Drosophila melanogaster. Biochemical and biophysical research communications. vol 525. issue 2. 2020-11-11. PMID:32107003. |
the fragile x mental retardation protein (fmrp), the product of the fmr1 gene, is responsible for the fragile x syndrome (fxs). |
2020-11-11 |
2023-08-13 |
drosophila_melanogaster |
| Zeinab Salimy, Mohammad Taghi Akbari, Faravareh Khordadpoor Deilaman. Assessment of FMR1 triplet repeats in patients affected with mental retardation, fragile X syndrome and primary ovarian insufficiency. Journal of genetics. vol 99. 2020-10-13. PMID:32089525. |
assessment of fmr1 triplet repeats in patients affected with mental retardation, fragile x syndrome and primary ovarian insufficiency. |
2020-10-13 |
2023-08-13 |
Not clear |
| Dimitrina Georgieva, Roumen Dimitrov, Meglena Kitanova, Ginka Genov. New X-chromosomal interactors of dFMRP regulate axonal and synaptic morphology of brain neurons in Biotechnology, biotechnological equipment. vol 28. issue 4. 2020-10-01. PMID:26740770. |
new x-chromosomal interactors of dfmrp regulate axonal and synaptic morphology of brain neurons in fragile x syndrome is a neuro-developmental disease caused by transcriptional inactivation of the gene fmr1 (fragile x mental retardation 1) and loss of its protein product fmrp. |
2020-10-01 |
2023-08-13 |
Not clear |
| Melissa Raspa, Amanda Wylie, Anne C Wheeler, Jacek Kolacz, Anne Edwards, Keri Heilman, Stephen W Porge. Sensory Difficulties in Children With an FMR1 Premutation. Frontiers in genetics. vol 9. 2020-10-01. PMID:30233641. |
studies of young children with fragile x syndrome (fxs) and the fmr1 premutation have shown sensory challenges as early as infancy and into early childhood. |
2020-10-01 |
2023-08-13 |
human |
| Seyed Ahmad Aleyasin, Fatemeh Salamat, Mojgan Mirakhor. Haplotype Analysis of DXS548 and FRAXAC1 Microsatellite Loci in Iranian Patients with Fragile X Syndrome. Iranian journal of child neurology. vol 12. issue 1. 2020-09-30. PMID:29379561. |
fragile x syndrome (fxs) is the most common cause of inherited mental retardation caused by expansion of a (cgg) repeat region up to 1000 repeat in 5' region of the fmr1 gene located in fraxa locus xq27.3. |
2020-09-30 |
2023-08-13 |
Not clear |
| Malan Zhang, Xin Li, Du Xiao, Tao Lu, Bing Qin, Zhigang Zheng, Yonggen Zhang, Yi Liu, Tiebin Yan, Xinjia Ha. Identification of differentially expressed microRNAs and their target genes in the hippocampal tissues of Fmr1 knockout mice. American journal of translational research. vol 12. issue 3. 2020-09-28. PMID:32269714. |
fragile x syndrome (fxs) is one of the most common forms of inherited mental retardation; it is usually associated with the transcriptional silencing of the fmr1 gene and loss of its encoded protein, the fragile x mental retardation protein (fmrp). |
2020-09-28 |
2023-08-13 |
mouse |
| Yong L. Subtle differences in synaptic transmission in medial nucleus of trapezoid body neurons between wild-type and Fmr1 knockout mice. Brain research. vol 1717. 2020-09-24. PMID:31004576. |
in animal models for fragile x syndrome where the gene for fragile x mental retardation protein is knocked out (fmr1 ko), neurotransmission in multiple brain regions shifts excitation/inhibition balance, resulting in hyperexcitability in neural circuits. |
2020-09-24 |
2023-08-13 |
mouse |
| Jessica Klusek, Jinkuk Hong, Audra Sterling, Elizabeth Berry-Kravis, Marsha R Mailic. Inhibition deficits are modulated by age and CGG repeat length in carriers of the FMR1 premutation allele who are mothers of children with fragile X syndrome. Brain and cognition. vol 139. 2020-09-09. PMID:31887710. |
inhibition deficits are modulated by age and cgg repeat length in carriers of the fmr1 premutation allele who are mothers of children with fragile x syndrome. |
2020-09-09 |
2023-08-13 |
human |
| Bruce Hayward, Inna Loutaev, Xiaohua Ding, Sarah L Nolin, Audrey Thurm, Karen Usdin, Carolyn B Smit. Fragile X syndrome in a male with methylated premutation alleles and no detectable methylated full mutation alleles. American journal of medical genetics. Part A. vol 179. issue 10. 2020-08-03. PMID:31356000. |
most cases of fragile x syndrome (fxs) result from aberrant methylation of the fmr1 gene. |
2020-08-03 |
2023-08-13 |
Not clear |
| Emma K Baker, Marta Arpone, Solange Aliaga Vera, Lesley Bretherton, Alexandra Ure, Claudine M Kraan, Minh Bui, Ling Ling, David Francis, Matthew F Hunter, Justine Elliott, Carolyn Rogers, Michael J Field, Jonathan Cohen, Lorena Santa Maria, Victor Faundes, Bianca Curotto, Paulina Morales, Cesar Trigo, Isabel Salas, Angelica M Alliende, David J Amor, David E Godle. Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome. Journal of neurodevelopmental disorders. vol 11. issue 1. 2020-08-03. PMID:31878865. |
fragile x syndrome (fxs) is a common cause of intellectual disability and autism spectrum disorder (asd) usually associated with a cgg expansion, termed full mutation (fm: cgg ≥ 200), increased dna methylation of the fmr1 promoter and silencing of the gene. |
2020-08-03 |
2023-08-13 |
Not clear |
| Huilin Wang, Xiaofan Zhu, Baoheng Gui, Wan Chee Cheung, Mengmeng Shi, Zhenjun Yang, Ka Yin Kwok, Ricky Lim, Sanna Pietilä, Yuanfang Zhu, Kwong Wai Cho. A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene. Journal of visualized experiments : JoVE. issue 151. 2020-06-23. PMID:31566610. |
fragile x syndrome (fxs) and associated disorders are caused by expansion of the cytosine-guanine-guanine (cgg) trinucleotide repeat in the 5' untranslated region (utr) of the fragile x mental retardation-1 (fmr1) gene promoter. |
2020-06-23 |
2023-08-13 |
Not clear |
| Carla E M Golden, Michael S Breen, Lacin Koro, Sankalp Sonar, Kristi Niblo, Andrew Browne, Natalie Burlant, Daniele Di Marino, Silvia De Rubeis, Mark G Baxter, Joseph D Buxbaum, Hala Harony-Nicola. Deletion of the KH1 Domain of Fmr1 Leads to Transcriptional Alterations and Attentional Deficits in Rats. Cerebral cortex (New York, N.Y. : 1991). vol 29. issue 5. 2020-06-17. PMID:30877790. |
fragile x syndrome (fxs) is a neurodevelopmental disorder caused by mutations in the fmr1 gene. |
2020-06-17 |
2023-08-13 |
human |
| Spencer K Cooke, Jacob Russin, Kristen Moulton, Jeffrey Nadel, Inna Loutaev, Qinhua Gu, Zheng Li, Carolyn Beebe Smit. Effects of the presence and absence of amino acids on translation, signaling, and long-term depression in hippocampal slices from Fmr1 knockout mice. Journal of neurochemistry. vol 151. issue 6. 2020-06-11. PMID:31539452. |
fragile x syndrome (fxs) is caused by silencing of the fmr1 gene and consequent absence of its protein product, fragile x mental retardation protein (fmrp). |
2020-06-11 |
2023-08-13 |
mouse |
| Lisa M Pastore, Mindy S Christianson, Bailey McGuinness, Kamaria Cayton Vaught, Jacqueline Y Maher, William G Kearn. Does theFMR1 gene affect IVF success? Reproductive biomedicine online. vol 38. issue 4. 2020-06-08. PMID:30711457. |
fmr1 cgg trinucleotide repeat expansions are associated with fragile x syndrome (full mutations) and primary ovarian insufficiency (premutation range); the effect of fmr1 on the success of fertility treatment is unclear. |
2020-06-08 |
2023-08-13 |
Not clear |