Results 21 to 30 of about 5,538,805 (353)
Fragile X Premutation Associated Conditions (FXPAC)
Frontiers in Pediatrics, 2020 The European Fragile X Network (EFXN) proposes that Fragile X Premutation Associated Conditions (FXPAC) be adopted as a universal term covering any condition linked to the Fragile X premutation.
Kirsten Johnson +2 more
doaj +1 more source
Drugs development and fragile X syndrome translational success story [PDF]
Medicinski Podmladak, 2016 nema
Budimirović Dejan, Protić Dragana
doaj +1 more source
Clinical Science, 1992 An amplification of a highly unstable DNA element has been identified at the fragile X locus in Xq27.3. This sequence appears to be both the source of the primary mutation causing the fragile X syndrome, apparently having its causative effect through the methylation of the FMR-1 HTF island and the region of cytogenetic fragility. The direct analysis of
Hirst, M +4 more
+11 more sources
A native function for RAN translation and CGG repeats in regulating Fragile X protein synthesis
Nature Neuroscience, 2020 Repeat-associated non-AUG-initiated translation of expanded CGG repeats (CGG RAN) from the FMR1 5′-leader produces toxic proteins that contribute to neurodegeneration in fragile X-associated tremor/ataxia syndrome.
Caitlin M. Rodriguez +15 more
semanticscholar +1 more source
Observation of topological Euler insulators with a trapped-ion quantum simulator [PDF]
Commun Phys 5, 223 (2022), 2022 Symmetries play a crucial role in the classification of topological phases of matter. Although recent studies have established a powerful framework to search for and classify topological phases based on symmetry indicators, there exists a large class of fragile topology beyond the description.
arxiv +1 more source
A perspective on the fragility of glass-forming liquids [PDF]
Journal of Non-Crystalline Solids: X 14, (2022), 100100, 2022 We discuss possible extraneous effects entering in the conventional measures of "fragility" at atmospheric pressure that may obscure a characterization of the genuine super-Arrhenius slowdown of relaxation. We first consider the role of density, which increases with decreasing temperature at constant pressure, and then the potential influence of the ...
arxiv +1 more source
Science Translational Medicine, 2020 Selective inhibition of GSK3α corrects diverse impairments in the Fmr1−/y mouse model of fragile X syndrome. Blocking GSK3α in a fragile X mouse model Fragile X syndrome is a heritable cause of autism and intellectual disability.
Patrick K. McCamphill +16 more
semanticscholar +1 more source
Cardiovascular Problems in the Fragile X Premutation
Frontiers in Genetics, 2020 There is a dearth of information about cardiovascular problems in fragile X premutation carriers who have 55–200 CGG repeats in fragile X mental retardation 1 (FMR1) gene.
Nattaporn Tassanakijpanich +6 more
doaj +1 more source
Journal of Medical Genetics, 1998 The fragile X syndrome is characterised by mental retardation, behavioural features, and physical features, such as a long face with large protruding ears and macro-orchidism. In 1991, after identification of the fragile X mental retardation (FMR1) gene, the cytogenetic marker (a fragile site at Xq27.3) became replaced by molecular diagnosis.
Ben A. Oostra +3 more
openaire +3 more sources
European Journal of Human Genetics, 2008 Fragile X syndrome, an X-linked dominant disorder with reduced penetrance, is associated with intellectual and emotional disabilities ranging from learning problems to mental retardation, and mood instability to autism. It is most often caused by the transcriptional silencing of the FMR1 gene, due to an expansion of a CGG repeat found in the 5 ...
Kathryn B. Garber +2 more
openaire +2 more sources