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Fragile X syndrome. [PDF]

Colombia medica (Cali, Colombia), 2014
Fragile X Syndrome (FXS) is a genetic disease due to a CGG trinucleotide expansion, named full mutation (greater than 200 CGG repeats), in the fragile X mental retardation 1 gene locus Xq27.3; which leads to an hypermethylated region in the gene promoter
Ayala-Zapata, Sebastián, Forero-Forero, Jose Vicente, González-Teshima, Laura Yuriko, Hagerman, Randi, Saldarriaga, Wilmar, Tassone, Flora   +5 more
core   +8 more sources

Fragile X Syndrome

Pediatric Neurology Briefs, 1987
Japanese patients with infantile autism were studied cytogenetically for the occurrence of fragile X (fra(x)) syndrome at the Universities of Kurume and Nagasaki.
J Gordon Millichap
doaj   +5 more sources

Fragile-X Syndrome

Pediatric Neurology Briefs, 1988
A characteristic epileptogenic EEG pattern is described in five of 12 male subjects with fragile-X syndrome evaluated at the Instituto Oasi, via C. Ruggero, Troina, Italy, and Clinica Neurologica, II Universita Roma and Bologna, Italy.
J Gordon Millichap
doaj   +4 more sources

Neural progenitor cells from an adult patient with fragile X syndrome [PDF]

BMC Medical Genetics, 2005
Background Currently, there is no adequate animal model to study the detailed molecular biochemistry of fragile X syndrome, the leading heritable form of mental impairment.
Nethercott Hubert E, Greco Claudia M, Tassone Flora, Schwartz Philip H, Ziaeian Boback, Hagerman Randi J, Hagerman Paul J   +6 more
doaj   +4 more sources

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.
A Contractor, A Estes, A Mullard, Aditi Newadkar, Anubhuti Goel, B Zupan, Barbara Todisco, BN Armbruster, BV Atallah, C He, CA Runyan, Carlos Portera-Cailliau, CD Harvey, CE Robertson, CM Niell, Craig A. Erickson, CS Kogan, CS Kogan, CX He, Daniel A. Cantu, Diego de Alba, Ernest Pedapati, F Farzin, G Fata La, Gunvant R. Chaudhari, HA Zariwala, HK Kato, IS Knoth, J Akerboom, J Poort, Janna Guilfoyle, JC Cottam, JJ LeBlanc, JM Pakan, JP Hamm, JT Gonçalves, K Juczewski, K Plaisted, L Pinto, Lauren M. Schmitt, M Dipoppa, M Rifé, MT Arnett, Nazim Kourdougli, PJ Mineault, SB Hofer, SH Lee, SR Hooper, TA Pologruto, The Dutch-Belgian Fragile X Consortium., TW Chen, Y Gonchar, Y Zhang, ZV Guo   +53 more
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Developmental studies in fragile X syndrome

Journal of Neurodevelopmental Disorders, 2020
Fragile X syndrome (FXS) is the most common single gene cause of autism and intellectual disabilities. Humans with FXS exhibit increased anxiety, sensory hypersensitivity, seizures, repetitive behaviors, cognitive inflexibility, and social behavioral ...
Khaleel A. Razak, Kelli C. Dominick, Craig A. Erickson   +2 more
doaj   +2 more sources

Fragile X syndrome and fragile X-associated disorders [version 1; referees: 2 approved] [PDF]

F1000Research, 2017
Fragile X syndrome (FXS) is caused by a full mutation on the FMR1 gene and a subsequent lack of FMRP, the protein product of FMR1. FMRP plays a key role in regulating the translation of many proteins involved in maintaining neuronal synaptic connections;
Akash Rajaratnam, Jasdeep Shergill, Maria Salcedo-Arellano, Wilmar Saldarriaga, Xianlai Duan, Randi Hagerman   +5 more
doaj   +3 more sources

Fragile X Syndrome

Journal of Health Science and Medical Research (JHSMR), 2012
Fragile X syndrome (FXS) is the most common X-linked mental retardation disorder. Most patients are males. In Thailand, the incidence of FXS in boys with mental retardation or delayed development is approximately 7%.
Ninlapa Pruksanusak, Pornprot Limprasert
doaj   +2 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

Modeling Fragile X Syndrome in Drosophila

Frontiers in Molecular Neuroscience, 2018
Intellectual disability (ID) and autism are hallmarks of Fragile X Syndrome (FXS), a hereditary neurodevelopmental disorder. The gene responsible for FXS is Fragile X Mental Retardation gene 1 (FMR1) encoding the Fragile X Mental Retardation Protein ...
Małgorzata Drozd, Małgorzata Drozd, Barbara Bardoni, Barbara Bardoni, Maria Capovilla, Maria Capovilla   +5 more
doaj   +2 more sources