Results 11 to 20 of about 40,130 (258)
Fragile X syndrome and fragile X-associated disorders [version 1; referees: 2 approved] [PDF]
F1000Research, 2017 Fragile X syndrome (FXS) is caused by a full mutation on the FMR1 gene and a subsequent lack of FMRP, the protein product of FMR1. FMRP plays a key role in regulating the translation of many proteins involved in maintaining neuronal synaptic connections;
Akash Rajaratnam +5 more
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Astrocytes in fragile X syndrome
Frontiers in Cellular NeuroscienceAstrocytes have an important role in neuronal maturation and synapse function in the brain. The interplay between astrocytes and neurons is found to be altered in many neurodevelopmental disorders, including fragile X syndrome (FXS) that is the most ...
Karo Talvio, Maija L. Castrén
doaj +4 more sources
Colombia medica (Cali, Colombia), 2014 Fragile X Syndrome (FXS) is a genetic disease due to a CGG trinucleotide expansion, named full mutation (greater than 200 CGG repeats), in the fragile X mental retardation 1 gene locus Xq27.3; which leads to an hypermethylated region in the gene promoter therefore silencing it and lowering the expression levels of the fragile X mental retardation 1, a ...
Saldarriaga, Wilmar +5 more
openaire +4 more sources
Fragile X syndrome in children [PDF]
Colombia Medica, 2023 Fragile X syndrome is caused by the expansion of CGG triplets in the FMR1 gene, which generates epigenetic changes that silence its expression. The absence of the protein coded by this gene, FMRP, causes cellular dysfunction, leading to impaired brain development and functional abnormalities.
David O. Acero-Garcés +4 more
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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
+8 more sources
Current Genomics, 2011 Recent data from a national survey highlighted a significant difference in obesity rates in young fragile X males (31%) compared to age matched controls (18%). Fragile X syndrome (FXS) is the most common cause of intellectual disability in males and the most common single gene cause of autism.
McLennan, Yingratana +3 more
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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
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Diagnosis of Fragile X Syndrome
Pediatric Neurology Briefs, 1991 Direct diagnosis by DNA analysis of the fragile X syndrome was studied in 511 persons from 63 families with the syndrome at the Institute National de la Sante et de la Recherce Medicale (INSERM), Unite 184, Faculte de Medecine, Strasbourg, France and ...
J Gordon Millichap
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Epilepsy and Fragile X Syndrome
Pediatric Neurology Briefs, 2003 The seizure history of 136 patients with fragile X syndrome (FXS), (age range 2 to 51 years; 113 males and 23 females), were reviewed at RUSH-Presbyterian-St Luke’s Medical Center, Chicago, IL.
J Gordon Millichap
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Fragile X syndrome: Current insight
Egyptian Journal of Medical Human Genetics, 2016 Fragile X syndrome (FXS) is a multigenerational disorder having massive adverse effect not only on the individuals but also on their families. It is the most common type of intellectual disability after Down’s syndrome. Over two decades have passed since
Deepika Delsa Dean +2 more
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