Fragile X syndrome

By R. Hagerman, E. Berry-Kravis, Heather Cody Hazlett, Donald B. Bailey, H. Moine, R. Kooy, F. Tassone, I. Gantois, Nahum Sonenberg, J. Mandel and 1 more. Nature Reviews Disease Primers, 2017

1,032 citations recorded by the source corpus.

Subfields: Cognitive Neuroscience, Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/cbe639183a66b6a6f4a6c48d3e5e34cecd3681fe

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In Genetics

1. E. Chen
2. S. Joseph

In Molecular Biology

1. Jochen Spiegel
2. E. Chen
3. Shankar Balasubramanian
4. S. Joseph

Citations in the corpus

• Fragile X Mental Retardation Protein: A Paradigm for Translational Control by RNA-Binding Proteins (2015, background): “FXS patients exhibit difficulties in learning, social shyness, hyperactivity, increased susceptibility to seizures, hypersensitivity to sensory stimuli, macroorchidism, motor incoordination, sleep disturbances, and autistic behavior (Garber et al., 2008).”
• The regulation and functions of DNA and RNA G-quadruplexes (2020, background): “A prime example is FMRP, which regulates translation of hundreds of mRNAs and is reviewed in detail elsewhere 165 .”
• Rett Syndrome and Fragile X Syndrome: Different Etiology With Common Molecular Dysfunctions (2021, background): “FXS patients may show some degree of intellectual disabilities, while females may have normal intelligence to mild intellectual disability (Maurin et al., 2014; Dahlhaus, 2018).”
• The world of protein acetylation. (2016, background): “as Huntington's disease and fragile X syndrome [286,287].”
• Discrete Choice Experiments in Health Economics: Past, Present and Future (2018, background): “studies [148, 152, 153, 162, 170]), 4% estimated utility weights within the quality-adjusted life year (QALY) framework (category D, 13 studies, e.”
• Modelling learning and memory in Drosophila to understand Intellectual Disabilities. (2020, neutral): “…majority of the patients with FXS (OMIM (2020), https://doi.org/10.1016/j.neuroscience.2020.07.034 #300624) show a CGG-triplet expansion in the 50 UTR of the FMR1 gene, which leads to hypermethylation and transcriptional silencing of the gene (Verkerk et al., 1991; Bagni et al., 2012) and Table 1.”
• ROC Analysis of Biomarker Combinations in Fragile X Syndrome-Specific Clinical Trials: Evaluating Treatment Efficacy via Exploratory Biomarkers (2025, unknown): “…and clinical measures indexing cognition is important for developing targeted treatments that address cognitive disruptions, including impaired verbal and nonverbal intelligence, language processing and production dif fi culties, crystalized cognition issues, and cognitive in fl exibility [4, 5].”