Results 11 to 20 of about 5,818,395 (361)

Impaired perceptual learning in a mouse model of Fragile X syndrome is mediated by parvalbumin neuron dysfunction and is reversible. [PDF]

Nature Neuroscience, 2018
To uncover the circuit-level alterations that underlie atypical sensory processing associated with autism, we adopted a symptom-to-circuit approach in the Fmr1-knockout (Fmr1–/–) mouse model of Fragile X syndrome.
Anubhuti Goel, Daniel A. Cantu, Janna Guilfoyle, Gunvant R. Chaudhari, Aditi Newadkar, Barbara Todisco, Diego de Alba, Nazim Kourdougli, Lauren M. Schmitt, E. Pedapati, C. Erickson, C. Portera-Cailliau   +11 more
semanticscholar   +4 more sources

Epigenetic insights into Fragile X Syndrome [PDF]

Frontiers in Cell and Developmental Biology
Fragile X Syndrome (FXS) is a genetic neurodevelopmental disorder closely associated with intellectual disability and autism spectrum disorders. The core of the disease lies in the abnormal expansion of the CGG trinucleotide repeat sequence at the 5′end ...
Liangqun Xie, Liangqun Xie, Huiying Li, MengLiang Xiao, Ningjing Chen, Xiaoxiao Zang, Yingying Liu, Hong Ye, Chaogang Tang   +8 more
doaj   +2 more sources

The fragile X syndrome. [PDF]

Journal of Medical Genetics, 1991
P.A. Jacobs
openalex   +3 more sources

The Use of “Retardation” in FRAXA, FMRP, FMR1 and Other Designations

Cells, 2022
The European Fragile X Network met in Wroclaw, Poland, November 2021, and agreed to work towards the eradication of the word “retardation” in regard to the naming of the fragile X gene (FRAXA) and protein (FMRP).
Jonathan Herring, Kirsten Johnson, Jörg Richstein   +2 more
doaj   +1 more source

A human forebrain organoid model of fragile X syndrome exhibits altered neurogenesis and highlights new treatment strategies

Nature Neuroscience, 2021
Fragile X syndrome (FXS) is caused by the loss of fragile X mental retardation protein (FMRP), an RNA-binding protein that can regulate the translation of specific mRNAs. In this study, we developed an FXS human forebrain organoid model and observed that
Yunhee Kang, Ying Zhou, Yujing Li, Yanfei Han, Jie Xu, Weibo Niu, Ziyi Li, Shi-qiang Liu, H. Feng, Wen Huang, R. Duan, Tianmin Xu, Nisha Raj, Feiran Zhang, J. Dou, Chongchong Xu, Hao Wu, G. Bassell, S. Warren, E. Allen, P. Jin, Z. Wen   +21 more
semanticscholar   +1 more source

Fragile X Syndrome [PDF]

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, Polussa, Jonathan, Tassone, Flora, Hagerman, Randi   +3 more
openaire   +6 more sources

Fragile X Syndrome: Recent Research Updates toward Capturing Treatments’ Improvement in Clinical Trials

Brain Sciences, 2022
This Brain Sciences 2020 Special Issue of nine manuscripts contribute novel data on treatment updates in fragile X syndrome (FXS) [...]
Dejan B. Budimirovic, Dragana D. Protic
doaj   +1 more source

Fragile X Premutation [PDF]

Journal of Neurodevelopmental Disorders, 2014
Whereas full mutation CGG-repeat expansions (>200 repeats) of the fragile X gene (FMR1) give rise to the neurodevelopmental disorder, fragile X syndrome (FXS); smaller, 'premutation' expansions (55 to 200 repeats) are now gaining increasing recognition as the basis for a spectrum of clinical involvement, from neurodevelopmental problems; to mid-adult ...
Tassone, Flora, Hagerman, Paul J, Hagerman, Randi J   +2 more
openaire   +5 more sources

FMR1 gene mutations cause neurodevelopmental-degenerative disorders: Importance of fragile X testing in Serbia [PDF]

Vojnosanitetski Pregled, 2016
nema
Budimirovic Dejan B., Protic Dragana
doaj   +1 more source

Fragile X Premutation Associated Conditions (FXPAC)

Frontiers in Pediatrics, 2020
The European Fragile X Network (EFXN) proposes that Fragile X Premutation Associated Conditions (FXPAC) be adopted as a universal term covering any condition linked to the Fragile X premutation.
Kirsten Johnson, Jonathan Herring, Jörg Richstein   +2 more
doaj   +1 more source