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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

Alzheimer’s disease-related dysregulation of protein synthesis causes key pathological features with ageing

bioRxivDecember 21, 2019
Anshua GhoshK. Peter Giese

A Genetic Screen Links the Disease-Associated Nab2 RNA-Binding Protein to the Planar Cell Polarity Pathway in Drosophila melanogaster

bioRxivDecember 23, 2019
Wei-Hsuan LeeKen Moberg
Trends in Pharmacological Sciences

Drug Screen Tugs at Common Thread for Repeat Disorders

Trends in Pharmacological SciencesJanuary 14, 2020
Kaalak ReddyJ Andrew Berglund
Neurobiology of Disease

Fragile X syndrome and associated disorders: Clinical aspects and pathology

Neurobiology of DiseaseJanuary 14, 2020
Maria Jimena Salcedo-ArellanoRandi J Hagerman
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society

GABAergic abnormalities in the fragile X syndrome

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology SocietyJanuary 14, 2020
Nathalie Van der Aa, R Frank Kooy

Carbamazepine restores neuronal signaling, protein synthesis and cognitive function in a mouse model of fragile X syndrome

bioRxivJanuary 8, 2020
Qi DingHongbing Wang
Ecotoxicology and Environmental Safety

Soybean isoflavones prevent atrazine-induced neurodegenerative damage by inducing autophagy

Ecotoxicology and Environmental SafetyDecember 24, 2019
Peng LiBaixiang Li
Médecine sciences : M/S

Twenty years of on-site clinical genetics consultations for people with ASD

Médecine sciences : M/SDecember 18, 2019
Arnold MunnichMoise Assouline
Personality & Social Psychology Bulletin

Taking Responsibility for Others and Use of Mental Contrasting

Personality & Social Psychology BulletinJanuary 14, 2020
A Timur SevincerGabriele Oettingen
Journal of the American Geriatrics Society

Ability of Older Adults to Report Elder Abuse: An Emergency Department-Based Cross-Sectional Study

Journal of the American Geriatrics SocietyJanuary 10, 2020
Natalie L RichmondTimothy F Platts-Mills
Genetics in Medicine : Official Journal of the American College of Medical Genetics

Clustering of comorbid conditions among women who carry an FMR1 premutation

Genetics in Medicine : Official Journal of the American College of Medical GeneticsJanuary 4, 2020
Emily Graves AllenStephanie L Sherman
The Journal of Toxicological Sciences

Farnesoid X receptor and liver X receptors regulate Oct3/4 expression by multiple feedback regulating system in normal renal-derived cells and renal adenocarcinoma cells

The Journal of Toxicological SciencesJanuary 15, 2020
Tomofumi FujinoMakio Hayakawa
JPMA. the Journal of the Pakistan Medical Association

Fine mapping of MRT9 locus through genome wide homozygosity mapping in a consanguineous Pakistani family

JPMA. the Journal of the Pakistan Medical AssociationDecember 20, 2019
Shoaib Ur RehmanMasroor Hussa
Animal Cells and Systems

Differential cell-type-expression of CYFIP1 and CYFIP2 in the adult mouse hippocampus

Animal Cells and SystemsDecember 20, 2019
Yinhua ZhangKihoon Han

Splicing of exon 9a in FMR1 transcripts results in a truncated FMRP with altered subcellular distribution

GeneJanuary 15, 2020
Xian-Guo FuFeng-Hua Lan
Open Access Macedonian Journal of Medical Sciences

Dermatoporosis - The Chronic Cutaneous Fragility Syndrome

Open Access Macedonian Journal of Medical SciencesDecember 19, 2019
Uwe WollinaAndreas Nowak
International Journal of Clinical and Experimental Pathology

Expression of FXR and HRG and their clinicopathological significance in benign and malignant pancreatic lesions

International Journal of Clinical and Experimental PathologyJanuary 15, 2020
Xue-Liang ChenLian-Wen Yuan
PLoS Biology

ATRX affects the repair of telomeric DSBs by promoting cohesion and a DAXX-dependent activity

PLoS BiologyJanuary 3, 2020
Courtney A LovejoyTitia de Lange
Congenital Anomalies

5-Aminolevulinic acid can ameliorate language dysfunction of patients with ATR-X syndrome

Congenital AnomaliesDecember 25, 2019
Takahito WadaNorifumi Shioda

Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability

GenesJanuary 8, 2020
Nekane IbarluzeaMaría-Isabel Tejada

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