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microRNAs and Fragile X Syndrome
2015Fragile X syndrome (FXS) is one of the major causes for autism and mental retardation in humans. The etiology of FXS is linked to the expansion of the CGG trinucleotide repeats, r(CGG), suppressing the fragile X mental retardation 1 (FMR1) gene on the X chromosome, resulting in a loss of fragile X mental retardation protein (FMRP) expression, which is ...
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Fragile X Syndrome: Introduction
2019Fragile X syndrome (FXS) is one of the most common reasons for intellectual disability (ID). First described in the 1940s, it took many years to understand the disease. The awe-inspiring breakthroughs in both science and technology facilitated the recognition of the unique inheritance pattern and the genetic mechanism of fragile X.
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ATP Synthase c-Subunit Leak Causes Aberrant Cellular Metabolism in Fragile X Syndrome
Cell, 2020Nelli Mnatsakanyan, Han-A Park, Jing Wu
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Recent Progress in Lynch Syndrome and Other Familial Colorectal Cancer Syndromes
Ca-A Cancer Journal for Clinicians, 2018Patrick Boland +2 more
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Rescue of Fragile X Syndrome Neurons by DNA Methylation Editing of the FMR1 Gene
Cell, 2018Charles H Li, Hao Wu, Rudolf Jaenisch
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Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation
New England Journal of Medicine, 1991François Rousseau +2 more
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Prevalence of Fragile X Syndrome
American Journal of Medical Genetics, Part A, 1996G Turner, H Robinson, T Webb
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