| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Yun Tae Hwang, Tracy Dudding, Solange Mabel Aliaga, Marta Arpone, David Francis, Xin Li, Howard Robert Slater, Carolyn Rogers, Lesley Bretherton, Desirée du Sart, Robert Heard, David Eugeny Godle. Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia. Genes. vol 7. issue 9. 2016-09-23. PMID:27657133. |
we describe a 38 year old male carrying a 100% methylated fm detected with southern blot (sb), which is consistent with complete silencing of fmr1 and a diagnosis of fragile x syndrome. |
2016-09-23 |
2023-08-13 |
Not clear |
| Brian E Kalmbach, Daniel Johnston, Darrin H Brage. Cell-Type Specific Channelopathies in the Prefrontal Cortex of the fmr1-/y Mouse Model of Fragile X Syndrome. eNeuro. vol 2. issue 6. 2016-09-20. PMID:26601124. |
fragile x syndrome (fxs) is caused by transcriptional silencing of the fmr1 gene resulting in the loss of fragile x mental retardation protein (fmrp) expression. |
2016-09-20 |
2023-08-13 |
mouse |
| Thu N Huynh, Manan Shah, So Yeon Koo, Kirsten S Faraud, Emanuela Santini, Eric Klan. eIF4E/Fmr1 double mutant mice display cognitive impairment in addition to ASD-like behaviors. Neurobiology of disease. vol 83. 2016-09-14. PMID:26306459. |
using the fmr1 knockout mouse and the eif4e transgenic mouse, two previously characterized mouse models of fragile x syndrome and asd, respectively, we generated the eif4e/fmr1 double mutant mouse. |
2016-09-14 |
2023-08-13 |
mouse |
| Peter H Frederikse, Anoop Nandanoor, Chinnaswamy Kasinatha. Fragile X Syndrome FMRP Co-localizes with Regulatory Targets PSD-95, GABA Receptors, CaMKIIα, and mGluR5 at Fiber Cell Membranes in the Eye Lens. Neurochemical research. vol 40. issue 11. 2016-08-24. PMID:26298628. |
fmr1 and fmrp underlie fragile x syndrome (fxs) and are linked with related autism spectrum disorders (asd). |
2016-08-24 |
2023-08-13 |
Not clear |
| Elisabetta Tabolacci, Federica Palumbo, Veronica Nobile, Giovanni Ner. Transcriptional Reactivation of the FMR1 Gene. A Possible Approach to the Treatment of the Fragile X Syndrome. Genes. vol 7. issue 8. 2016-08-23. PMID:27548224. |
fragile x syndrome (fxs) is the most common cause of inherited intellectual disability, caused by cgg expansion over 200 repeats (full mutation, fm) at the 5' untranslated region (utr) of the fragile x mental retardation 1 (fmr1) gene and subsequent dna methylation of the promoter region, accompanied by additional epigenetic histone modifications that result in a block of transcription and absence of the fragile x mental retardation protein (fmrp). |
2016-08-23 |
2023-08-13 |
Not clear |
| Emilie M Sørensen, Freja Bertelsen, Pia Weikop, Maria M Skovborg, Tue Banke, Kim R Drasbek, Jørgen Scheel-Krüge. Hyperactivity and lack of social discrimination in the adolescent Fmr1 knockout mouse. Behavioural pharmacology. vol 26. issue 8 Spec No. 2016-08-22. PMID:26110222. |
the aims of this study were to investigate behaviour relevant to human autism spectrum disorder (asd) and the fragile x syndrome in adolescent fmr1 knockout (ko) mice and to evaluate the tissue levels of striatal monoamines. |
2016-08-22 |
2023-08-13 |
mouse |
| Snezana Stefanovic, Brett A DeMarco, Ayana Underwood, Kathryn R Williams, Gary J Bassell, Mihaela Rita Mihailesc. Fragile X mental retardation protein interactions with a G quadruplex structure in the 3'-untranslated region of NR2B mRNA. Molecular bioSystems. vol 11. issue 12. 2016-08-19. PMID:26412477. |
fragile x syndrome, the most common cause of inherited intellectual disability, is caused by a trinucleotide cgg expansion in the 5'-untranslated region of the fmr1 gene, which leads to the loss of expression of the fragile x mental retardation protein (fmrp). |
2016-08-19 |
2023-08-13 |
Not clear |
| Lu Wang, Yan Wang, Shimeng Zhou, Liukun Yang, Qixin Shi, Yujiao Li, Kun Zhang, Le Yang, Minggao Zhao, Qi Yan. Imbalance between Glutamate and GABA in Fmr1 Knockout Astrocytes Influences Neuronal Development. Genes. vol 7. issue 8. 2016-08-13. PMID:27517961. |
fragile x syndrome (fxs) is a form of inherited mental retardation that results from the absence of the fragile x mental retardation protein (fmrp), the product of the fmr1 gene. |
2016-08-13 |
2023-08-13 |
mouse |
| Dorota Gudanis, Lukasz Popenda, Kamil Szpotkowski, Ryszard Kierzek, Zofia Gdanie. Structural characterization of a dimer of RNA duplexes composed of 8-bromoguanosine modified CGG trinucleotide repeats: a novel architecture of RNA quadruplexes. Nucleic acids research. vol 44. issue 5. 2016-08-08. PMID:26743003. |
fragile x syndrome and fragile x-associated tremor/ataxia syndrome (fxtas) are neurodegenerative disorders caused by the pathogenic expansion of cgg triplet repeats in the fmr1 gene. |
2016-08-08 |
2023-08-13 |
Not clear |
| Chul-Yong Park, Tomer Halevy, Dongjin R Lee, Jin Jea Sung, Jae Souk Lee, Ofra Yanuka, Nissim Benvenisty, Dong-Wook Ki. Reversion of FMR1 Methylation and Silencing by Editing the Triplet Repeats in Fragile X iPSC-Derived Neurons. Cell reports. vol 13. issue 2. 2016-08-04. PMID:26440889. |
fragile x syndrome (fxs) is the most common form of inherited intellectual disability, resulting from a cgg repeat expansion in the fragile x mental retardation 1 (fmr1) gene. |
2016-08-04 |
2023-08-13 |
Not clear |
| Sally M Till, Antonis Asiminas, Adam D Jackson, Danai Katsanevaki, Stephanie A Barnes, Emily K Osterweil, Mark F Bear, Sumantra Chattarji, Emma R Wood, David J A Wyllie, Peter C Kin. Conserved hippocampal cellular pathophysiology but distinct behavioural deficits in a new rat model of FXS. Human molecular genetics. vol 24. issue 21. 2016-08-02. PMID:26243794. |
using a new rat model of fragile x syndrome, we report that fmr1 knockout (ko) rats exhibit elevated basal protein synthesis and an increase in mglur-dependent long-term depression in ca1 of the hippocampus that is independent of new protein synthesis. |
2016-08-02 |
2023-08-13 |
mouse |
| Aia Elise Jønch, Karen Grønskov, Jytte Merete Carlsen Lunding, Jørgen E Nielsen, Karen Brøndum-Nielse. [Carriers of fragile X syndrome can present with a broad spectrum of clinical disorders]. Ugeskrift for laeger. vol 176. issue 26. 2016-07-20. PMID:25294575. |
fragile x syndrome, fragile x-associated tremor/ataxia syndrome (fxtas) and fragile x-associated primary ovarian insufficiency (fxpoi) are three clinically distinct disorders caused by expansions of a cgg repeat sequence in the non-coding part of the fmr1. |
2016-07-20 |
2023-08-13 |
Not clear |
| Weirui Guo, Gemma Molinaro, Katie A Collins, Seth A Hays, Richard Paylor, Paul F Worley, Karen K Szumlinski, Kimberly M Hube. Selective Disruption of Metabotropic Glutamate Receptor 5-Homer Interactions Mimics Phenotypes of Fragile X Syndrome in Mice. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 36. issue 7. 2016-06-29. PMID:26888925. |
mglu5 dysfunction has been most well characterized in the fragile x syndrome mouse model, the fmr1 knock-out (ko) mouse, where pharmacological and genetic reduction of mglu5 reverses many phenotypes. |
2016-06-29 |
2023-08-13 |
mouse |
| Markus Kaufmann, Ansgar Schuffenhauer, Isabelle Fruh, Jessica Klein, Anke Thiemeyer, Pierre Rigo, Baltazar Gomez-Mancilla, Valerie Heidinger-Millot, Tewis Bouwmeester, Ulrich Schopfer, Matthias Mueller, Barna D Fodor, Amanda Cobos-Corre. High-Throughput Screening Using iPSC-Derived Neuronal Progenitors to Identify Compounds Counteracting Epigenetic Gene Silencing in Fragile X Syndrome. Journal of biomolecular screening. vol 20. issue 9. 2016-06-28. PMID:26024946. |
fragile x syndrome (fxs) is the most common form of inherited mental retardation, and it is caused in most of cases by epigenetic silencing of the fmr1 gene. |
2016-06-28 |
2023-08-13 |
Not clear |
| Beata Stepniak, Anne Kästner, Giulia Poggi, Marina Mitjans, Martin Begemann, Annette Hartmann, Sandra Van der Auwera, Farahnaz Sananbenesi, Dilja Krueger-Burg, Gabriela Matuszko, Cornelia Brosi, Georg Homuth, Henry Völzke, Fritz Benseler, Claudia Bagni, Utz Fischer, Alexander Dityatev, Hans-Jörgen Grabe, Dan Rujescu, Andre Fischer, Hannelore Ehrenreic. Accumulated common variants in the broader fragile X gene family modulate autistic phenotypes. EMBO molecular medicine. vol 7. issue 12. 2016-06-20. PMID:26612855. |
fragile x syndrome (fxs) is mostly caused by a cgg triplet expansion in the fragile x mental retardation 1 gene (fmr1). |
2016-06-20 |
2023-08-13 |
human |
| Pieter Verdyck, Veerle Berckmoes, Anick De Vos, Willem Verpoest, Inge Liebaers, Maryse Bonduelle, Martine De Ryck. Chromosome fragility at FRAXA in human cleavage stage embryos at risk for fragile X syndrome. American journal of medical genetics. Part A. vol 167A. issue 10. 2016-06-14. PMID:25953684. |
fragile x syndrome (fxs), the most common inherited intellectual disability syndrome, is caused by expansion and hypermethylation of the cgg repeat in the 5' utr of the fmr1 gene. |
2016-06-14 |
2023-08-13 |
human |
| D T Collins, E M Mannina, M Mendonc. Total body irradiation in a patient with fragile X syndrome for acute lymphoblastic leukemia in preparation for stem cell transplantation: A case report and literature review. American journal of medical genetics. Part A. vol 167A. issue 10. 2016-06-09. PMID:26097012. |
fragile x syndrome (fxs) is a congenital disorder caused by expansion of cgg trinucleotide repeat at the 5' end of the fragile x mental retardation gene 1 (fmr1) on the x chromosome that leads to chromosomal instability and diminished serum levels of fragile x mental retardation protein (fmrp). |
2016-06-09 |
2023-08-13 |
Not clear |
| Solange M Aliaga, Howard R Slater, David Francis, Desiree Du Sart, Xin Li, David J Amor, Angelica M Alliende, Lorena Santa Maria, Víctor Faundes, Paulina Morales, Cesar Trigo, Isabel Salas, Bianca Curotto, David E Godle. Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis. Clinical chemistry. vol 62. issue 2. 2016-06-07. PMID:26715660. |
fmr1 full mutations (fms) (cgg expansion >200) in males mosaic for a normal (<45 cgg) or gray-zone (gz) (45-54 cgg) allele can be missed with the standard 2-step fragile x syndrome (fxs) testing protocols, largely because the first-line pcr tests showing a normal or gz allele are not reflexed to the second-line test that can detect fm. |
2016-06-07 |
2023-08-13 |
Not clear |
| Kirin Basuta, Andrea Schneider, Louise Gane, Jonathan Polussa, Bryan Woodruff, Dalyir Pretto, Randi Hagerman, Flora Tasson. High functioning male with fragile X syndrome and fragile X-associated tremor/ataxia syndrome. American journal of medical genetics. Part A. vol 167A. issue 9. 2016-05-19. PMID:25920745. |
fragile x syndrome (fxs) affects individuals with more than 200 cgg repeats (full mutation) in the fragile x mental retardation 1 (fmr1) gene. |
2016-05-19 |
2023-08-13 |
Not clear |
| Benjamin C Reiner, Anna Dunaevsk. Deficit in motor training-induced clustering, but not stabilization, of new dendritic spines in FMR1 knock-out mice. PloS one. vol 10. issue 5. 2016-05-03. PMID:25950728. |
it was previously shown that the fmr1 knock-out mice, a common mouse model of fragile x syndrome, recapitulates this motor learning deficit and that the deficit is associated with altered plasticity of dendritic spines. |
2016-05-03 |
2023-08-13 |
mouse |