| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Jonathan W Lovelace, Maham Rais, Arnold R Palacios, Xinghao S Shuai, Steven Bishay, Otilia Popa, Patricia S Pirbhoy, Devin K Binder, David L Nelson, Iryna M Ethell, Khaleel A Raza. Deletion of Fmr1 from Forebrain Excitatory Neurons Triggers Abnormal Cellular, EEG, and Behavioral Phenotypes in the Auditory Cortex of a Mouse Model of Fragile X Syndrome. Cerebral cortex (New York, N.Y. : 1991). vol 30. issue 3. 2021-06-08. PMID:31364704. |
deletion of fmr1 from forebrain excitatory neurons triggers abnormal cellular, eeg, and behavioral phenotypes in the auditory cortex of a mouse model of fragile x syndrome. |
2021-06-08 |
2023-08-13 |
mouse |
| María Isabel Tejada, Nekane Ibarluze. Non-syndromic X linked intellectual disability: Current knowledge in light of the recent advances in molecular and functional studies. Clinical genetics. vol 97. issue 5. 2021-06-07. PMID:31898314. |
since the discovery of the fmr1 gene and the clinical and molecular characterization of fragile x syndrome in 1991, more than 141 genes have been identified in the x-chromosome in these 28 years thanks to applying continuously evolving molecular techniques to x-linked intellectual disability (xlid) families. |
2021-06-07 |
2023-08-13 |
Not clear |
| Lena Constantin, Rebecca E Poulsen, Leandro A Scholz, Itia A Favre-Bulle, Michael A Taylor, Biao Sun, Geoffrey J Goodhill, Gilles C Vanwalleghem, Ethan K Scot. Altered brain-wide auditory networks in a zebrafish model of fragile X syndrome. BMC biology. vol 18. issue 1. 2021-06-04. PMID:32938458. |
loss or disrupted expression of the fmr1 gene causes fragile x syndrome (fxs), the most common monogenetic form of autism in humans. |
2021-06-04 |
2023-08-13 |
zebrafish |
| Elaine Spector, Andrea Behlmann, Kathryn Kronquist, Nancy C Rose, Elaine Lyon, Honey V Redd. Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genetics in medicine : official journal of the American College of Medical Genetics. vol 23. issue 5. 2021-06-03. PMID:33795824. |
pathogenic variants in the fmr1 gene are associated with fragile x syndrome, fragile x-associated tremor ataxia syndrome (fxtas), and fragile x-associated primary ovarian insufficiency (fxpoi). |
2021-06-03 |
2023-08-13 |
Not clear |
| Bumwhee Lee, Shree Panda, Hye Young Le. Primary Ciliary Deficits in the Dentate Gyrus of Fragile X Syndrome. Stem cell reports. vol 15. issue 2. 2021-06-02. PMID:32735823. |
fragile x syndrome (fxs) is a common form of inheritance for intellectual disabilities with a high risk for autism spectrum disorders, and fmr1 ko mice, a mouse model for fxs, demonstrate deficits in newborn neuron differentiation, dendritic morphology, and memory formation in the dg. |
2021-06-02 |
2023-08-13 |
mouse |
| Yi-Mei Yang, Jason Arsenault, Alaji Bah, Mickael Krzeminski, Adam Fekete, Owen Y Chao, Laura K Pacey, Alex Wang, Julie Forman-Kay, David R Hampson, Lu-Yang Wan. Identification of a molecular locus for normalizing dysregulated GABA release from interneurons in the Fragile X brain. Molecular psychiatry. vol 25. issue 9. 2021-05-14. PMID:30224722. |
here, we find that excessive gaba release from basket cells (bcs) attenuates the firing frequency of purkinje neurons (pns) in the cerebellum of fragile x mental retardation 1 (fmr1) knockout (ko) mice, a model of fragile x syndrome (fxs) with abrogated expression of the fragile x mental retardation protein (fmrp). |
2021-05-14 |
2023-08-13 |
mouse |
| Arijita Chakraborty, Piroon Jenjaroenpun, Jing Li, Sami El Hilali, Andrew McCulley, Brian Haarer, Elizabeth A Hoffman, Aimee Belak, Audrey Thorland, Heidi Hehnly, Carl L Schildkraut, Chun-Long Chen, Vladimir A Kuznetsov, Wenyi Fen. Replication Stress Induces Global Chromosome Breakage in the Fragile X Genome. Cell reports. vol 32. issue 12. 2021-05-05. PMID:32966779. |
fragile x syndrome (fxs) is a neurodevelopmental disorder caused by mutations in the fmr1 gene and deficiency of a functional fmrp protein. |
2021-05-05 |
2023-08-13 |
Not clear |
| Jia Hu, Lei Chen, Jian Yin, Huancai Yin, Yinong Huang, Jingjing Tia. Hyperactivity, Memory Defects, and Craniofacial Abnormalities in Zebrafish fmr1 Mutant Larvae. Behavior genetics. vol 50. issue 3. 2021-04-28. PMID:32048109. |
fragile x syndrome (fxs) is a heritable mental retardation disease caused by unstable trinucleotide repeat sequences in fmr1. |
2021-04-28 |
2023-08-13 |
human |
| Bozena Kuzniewska, Dominik Cysewski, Michal Wasilewski, Paulina Sakowska, Jacek Milek, Tomasz M Kulinski, Maciej Winiarski, Pawel Kozielewicz, Ewelina Knapska, Michal Dadlez, Agnieszka Chacinska, Andrzej Dziembowski, Magdalena Dziembowsk. Mitochondrial protein biogenesis in the synapse is supported by local translation. EMBO reports. vol 21. issue 8. 2021-04-27. PMID:32558077. |
importantly, in a mouse model of fragile x syndrome, fmr1 ko mice, a common disease associated with dysregulation of synaptic protein synthesis, we observed altered morphology and respiration rates of synaptic mitochondria. |
2021-04-27 |
2023-08-13 |
mouse |
| Fei Gao, Wen Huang, Yanjun You, Jie Huang, Juan Zhao, Jin Xue, Huaixing Kang, Yingbao Zhu, Zhengmao Hu, Emily G Allen, Peng Jin, Kun Xia, Ranhui Dua. Development of Chinese genetic reference panel for Fragile X Syndrome and its application to the screen of 10,000 Chinese pregnant women and women planning pregnancy. Molecular genetics & genomic medicine. vol 8. issue 6. 2021-04-13. PMID:32281281. |
fragile x syndrome (fxs) is the most common inherited form of intellectual disability caused by a cgg repeat expansion in the 5' untranslated region of the fmr1 gene. |
2021-04-13 |
2023-08-13 |
Not clear |
| Wen-Jing Yang, Ai-Zhen Yan, Yong-Jun Xu, Xiao-Yan Guo, Xian-Guo Fu, Dan Li, Juan Liao, Duo Zhang, Feng-Hua La. Further identification of a 140bp sequence from amid intron 9 of human FMR1 gene as a new exon. BMC genetics. vol 21. issue 1. 2021-03-29. PMID:32552710. |
the disease gene of fragile x syndrome, fmr1 gene, encodes fragile x mental retardation protein (fmrp). |
2021-03-29 |
2023-08-13 |
human |
| Sneha Shah, Gemma Molinaro, Botao Liu, Ruijia Wang, Kimberly M Huber, Joel D Richte. FMRP Control of Ribosome Translocation Promotes Chromatin Modifications and Alternative Splicing of Neuronal Genes Linked to Autism. Cell reports. vol 30. issue 13. 2021-03-26. PMID:32234480. |
silencing of fmr1 and loss of its gene product, fmrp, results in fragile x syndrome (fxs). |
2021-03-26 |
2023-08-13 |
Not clear |
| Anita Torossian, Rachel Michelle Saré, Inna Loutaev, Carolyn Beebe Smit. Increased rates of cerebral protein synthesis in Shank3 knockout mice: Implications for a link between synaptic protein deficit and dysregulated protein synthesis in autism spectrum disorder/intellectual disability. Neurobiology of disease. vol 148. 2021-03-23. PMID:33276083. |
in fragile x syndrome (fxs), a syndromic form of autism, shank3 is one of the 842 targets of fragile x mental retardation protein (fmrp), the protein product of the silenced fmr1 gene. |
2021-03-23 |
2023-08-13 |
mouse |
| Marta Prieto, Alessandra Folci, Stéphane Marti. Post-translational modifications of the Fragile X Mental Retardation Protein in neuronal function and dysfunction. Molecular psychiatry. vol 25. issue 8. 2021-03-22. PMID:31822816. |
importantly, fmrp loss-of-function leads to fragile x syndrome (fxs), a rare genetic developmental condition causing a range of neurological alterations including intellectual disability (id), learning and memory impairments, autistic-like features and seizures. here, we also explore the possibility that recently reported missense mutations in the fmr1 gene disrupt the ptm homoeostasis of fmrp, thus participating in the aetiology of fxs. |
2021-03-22 |
2023-08-13 |
Not clear |
| Jessica L Huebschman, Samantha L Hodges, Conner D Reynolds, Suzanne O Nolan, Joaquin N Lug. A single episode of early-life status epilepticus impacts neonatal ultrasonic vocalization behavior in the Fmr1 knockout mouse. Epilepsy & behavior : E&B. vol 111. 2021-03-17. PMID:32693376. |
fragile x syndrome (fxs) is a genetic disorder caused by a trinucleotide (cgg) expansion mutation in the fmr1 gene located on the x chromosome. |
2021-03-17 |
2023-08-13 |
mouse |
| Noemie Ranisavljevic, Mathilde Hess, Christel Castelli, Marjolene Willems, Alice Ferrieres-Hoa, Anne Girardet, Tal Anahor. Are ovarian response and pregnancy rates similar in selected FMR1 premutated and mutated patients undergoing preimplantation genetic testing? Journal of assisted reproduction and genetics. vol 37. issue 7. 2021-03-10. PMID:32483686. |
to assess if the ovarian response of fmr1 premutated women undergoing preimplantation genetic testing (pgt) for fragile x syndrome is lower compared with fully mutated patients, due to their frequent premature ovarian failure. |
2021-03-10 |
2023-08-13 |
Not clear |
| Samantha L Hodges, Suzanne O Nolan, Lindsay A Tomac, Ilyasah D A Muhammad, Matthew S Binder, Joseph H Taube, Joaquin N Lug. Lipopolysaccharide-induced inflammation leads to acute elevations in pro-inflammatory cytokine expression in a mouse model of Fragile X syndrome. Physiology & behavior. vol 215. 2021-03-04. PMID:31838149. |
fragile x syndrome (fxs) is a neurodevelopmental disorder caused by a single genetic mutation in the fmr1 gene, serving as the largest genetic cause of intellectual disability. |
2021-03-04 |
2023-08-13 |
mouse |
| Kagistia Hana Utami, Niels H Skotte, Ana R Colaço, Nur Amirah Binte Mohammad Yusof, Bernice Sim, Xin Yi Yeo, Han-Gyu Bae, Marta Garcia-Miralles, Carola I Radulescu, Qiyu Chen, Georgia Chaldaiopoulou, Herty Liany, Srikanth Nama, Ulla-Kaisa A Peteri, Prabha Sampath, Maija L Castrén, Sangyong Jung, Matthias Mann, Mahmoud A Poulad. Integrative Analysis Identifies Key Molecular Signatures Underlying Neurodevelopmental Deficits in Fragile X Syndrome. Biological psychiatry. vol 88. issue 6. 2021-03-03. PMID:32653109. |
fragile x syndrome (fxs) is a neurodevelopmental disorder caused by epigenetic silencing of fmr1 and loss of fmrp expression. |
2021-03-03 |
2023-08-13 |
human |
| Meng Li, Junha Shin, Ryan D Risgaard, Molly J Parries, Jianyi Wang, Deborah Chasman, Shuang Liu, Sushmita Roy, Anita Bhattacharyya, Xinyu Zha. Identification of FMR1-regulated molecular networks in human neurodevelopment. Genome research. vol 30. issue 3. 2021-02-24. PMID:32179589. |
here, we applied a modified clip-seq strategy to identify genome-wide targets of the fmrp translational regulator 1 (fmr1), a brain-enriched rna-bp, whose deficiency leads to fragile x syndrome (fxs), the most prevalent inherited intellectual disability. |
2021-02-24 |
2023-08-13 |
human |
| Molly Winston, Kritika Nayar, Abigail L Hogan, Jamie Barstein, Chelsea La Valle, Kevin Sharp, Elizabeth Berry-Kravis, Molly Los. Physiological regulation and social-emotional processing in female carriers of the FMR1 premutation. Physiology & behavior. vol 214. 2021-01-22. PMID:31765665. |
the fmr1 gene is associated with a wide range of clinical and cognitive phenotypes, ranging from intellectual disability and autism symptoms in fragile x syndrome (caused by the fmr1 full mutation), to a more varied, and still poorly understood range of clinical and cognitive phenotypes among carriers of the gene in its premutation state. |
2021-01-22 |
2023-08-13 |
human |