Fragile X Syndrome

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 characterized by cognitive impairment, hyperactivity, seizures, language delay, and enlargement of the ears, head, and testes. Discover the latest research on Fragile X syndrome here.

October 24, 2021
Open Access

FMRP Levels in Human Peripheral Blood Leukocytes Correlates with Intellectual Disability.

Diagnostics
Mark RothFlora Tassone
October 24, 2021
Open Access

Development of a Quantitative FMRP Assay for Mouse Tissue Applications.

Genes
Tatyana AdayevJeffrey H Goodman
October 24, 2021
Review
Open Access

Mechanisms of Genome Instability in the Fragile X-Related Disorders.

Genes
Bruce E Hayward, Karen Usdin
October 24, 2021
Review
Open Access

Interneuron Dysfunction and Inhibitory Deficits in Autism and Fragile X Syndrome.

Cells
Toshihiro Nomura
October 24, 2021

Parkinsonism and tremor syndromes.

Journal of the Neurological Sciences
Steven Bellows, Joseph Jankovic
October 19, 2021
Open Access

mGluR5 Negative Modulators for Fragile X: Treatment Resistance and Persistence.

Frontiers in Psychiatry
David C StoppelMark F Bear
October 19, 2021
Review
Open Access

Heterogeneity in Fragile X Syndrome Highlights the Need for Precision Medicine-Based Treatments.

Frontiers in Psychiatry
Edgard VerduraBaltazar Gomez-Mancilla
October 19, 2021
Open Access

Predictors of Comorbid Conditions in Women Who Carry an FMR1 Premutation.

Frontiers in Psychiatry
Emily Graves AllenStephanie L Sherman
October 15, 2021
Open Access

Characterization of FMR1 Repeat Expansion and Intragenic Variants by Indirect Sequence Capture.

Frontiers in Genetics
Valentina GrossoMarzia Rossato
October 14, 2021
Open Access

Increased 2-arachidonoyl-sn-glycerol levels normalize cortical responses to sound and improve behaviors in Fmr1 KO mice.

Journal of Neurodevelopmental Disorders
Patricia S PirbhoyDevin K Binder
October 14, 2021

Correction of amygdalar dysfunction in a rat model of fragile X syndrome.

Cell Reports
Giselle FernandesSumantra Chattarji
October 13, 2021
Open Access

Efficient marmoset genome engineering by autologous embryo transfer and CRISPR/Cas9 technology.

Scientific Reports
Yukiko AbeAtsu Aiba
October 13, 2021
Case Report
Open Access

FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report.

BMC Neurology
Megumi TokoHirofumi Maruyama
October 13, 2021

Utilization of Whole Exome Sequencing in Non-Syndromic Premature Ovarian Failure: Ficolin-3 Gene Mutation in an Iranian Family.

Iranian Biomedical Journal
Soophia MehrjooyPegah Ghandil
October 13, 2021
Open Access

Relationships between Mitochondrial Function, AMPK, and TORC1 Signaling in Lymphoblasts with Premutation Alleles of the FMR1 Gene.

International Journal of Molecular Sciences
Paul FisherSarah J Annesley
October 9, 2021
Open Access

Electroretinography and contrast sensitivity, complementary translational biomarkers of sensory deficits in the visual system of individuals with fragile X syndrome.

Journal of Neurodevelopmental Disorders
Olivier PercheSylvain Briault
October 7, 2021
Open Access

Experience-dependent weakening of callosal synaptic connections in the absence of postsynaptic FMRP.

ELife
Zhe ZhangKimberly M Huber
October 4, 2021
Case Report
Open Access

Case Report: Coexistence of Alzheimer-Type Neuropathology in Fragile X-Associated Tremor Ataxia Syndrome.

Frontiers in Neuroscience
Maria Jimena Salcedo-ArellanoVerónica Martínez-Cerdeño
October 1, 2021
Preprint
Open Access

Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing

MedRxiv : the Preprint Server for Health Sciences
I. StevanovskiIra W Deveson

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