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Fragile X Syndrome

Fragile X Syndrome diagram by Emw, Wikimedia
Emw, Wikimedia

Fragile X syndrome is caused by an expanded CGG repeat (> 200 repeats) in the 5' untranslated portion of the fragile mental retardation 1 gene (FMR1) within the X chromosome, leading to deficiency of fragile X mental retardation protein (FMRP). It is cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. Intellectual disability occurs in nearly all males and roughly 50% of females with the full mutation. Discover the latest research on Fragile X syndrome here.

Top 20 most recent papers
Future Neurology

Fragile X- associated Neuropsychiatric Disorders: A Case Report

Future NeurologyFebruary 25, 2020
Maria Melinda TanRandi J Hagerman
1
12
JBRA Assisted Reproduction

First custom next-generation sequencing infertility panel in Latin America: design and first results

JBRA Assisted ReproductionMarch 11, 2020
Daniela LorenziSergio Papier
1
bioRxiv

Genetic association of FMRP targets with psychiatric disorders

bioRxivFebruary 24, 2020
Nicholas E CliftonAndrew Pocklington
7
Frontiers in Molecular Biosciences

In silico, in vitro , and in vivo Approaches to Identify Molecular Players in Fragile X Tremor and Ataxia Syndrome

Frontiers in Molecular BiosciencesMarch 29, 2020
Saif N HaifyGian Gaetano Tartaglia
Molecular Cell

Brain Translation: A Feather Tips the Scale

Molecular CellMarch 24, 2020
Dmytro UstianenkoChaolin Zhang
10
Biochemical and Biophysical Research Communications

MiR-315 is required for neural development and represses the expression of dFMR1 in Drosophila melanogaster

Biochemical and Biophysical Research CommunicationsFebruary 29, 2020
Liudi YuanMingkuan Sun
2

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