Results 1 to 10 of about 7,392 (202)

Urine-Derived Epithelial Cell Lines: A New Tool to Model Fragile X Syndrome (FXS) [PDF]

Cells, 2020
Fragile X syndrome (FXS) is an X-linked neurodevelopmental condition associated with intellectual disability and behavioral problems due to the lack of the Fragile X mental retardation protein (FMRP), which plays a crucial role in synaptic plasticity and
Marwa Zafarullah, Mittal Jasoliya, Flora Tassone   +2 more
exaly   +11 more sources

Vocabulary comprehension in adults with fragile X syndrome (FXS) [PDF]

Journal of Neurodevelopmental Disorders, 2019
Background Receptive and expressive vocabulary in adult and adolescent males with fragile X syndrome (FXS) have been shown as significantly lower than their chronological age; however, receptive vocabulary has been considered a strength relative to ...
Anne Hoffmann, Sue Ellen Krause, Joanne Wuu, Sue Leurgans, Stephen J. Guter, Sandra S. Block, Jeff Salt, Edwin Cook, Dominick M. Maino, Elizabeth Berry-Kravis   +9 more
doaj   +5 more sources

Novel p.Arg534del Mutation and MTHFR C667T Polymorphism in Fragile X Syndrome (FXS) With Autism Spectrum Phenotype: A Case Report [PDF]

Case Reports in Genetics
Fragile X syndrome (FXS) presents with autism spectrum disorder (ASD), intellectual disability, developmental delay, seizures, hypotonia during infancy, joint laxity, behavioral issues, and characteristic facial features. The predominant mechanism is due to CGG trinucleotide repeat expansion of more than 200 repeats in the 5′UTR ...
Ellery Santos, Flora Tassone, Jamie Leah Randol   +2 more
exaly   +7 more sources

Fragile X Syndrome and Targeted Treatments

Journal of Biomedicine and Translational Research, 2020
Many targeted treatment studies have been carried out in individuals with Fragile X Syndrome (FXS) guided by animal studies from the Fragile X Mental Retardation 1 (FMR1) knock out (KO) mice and the fragile X Drosophila studies.
Nattaporn Tassanakijpanich, Ana María Cabal-Herrera, Maria Jimena Salcedo-Arellano, Randi Jenssen Hagerman   +3 more
doaj   +3 more sources

Identity and Reproductive Aspects in Females with Fragile X Syndrome

Women's Health Reports, 2021
Purpose: Fragile X Syndrome (FXS) is caused by a full mutation in the FMR1 gene, defined by >200 CGG repeats. It is the leading cause of inherited intellectual disability, but presents with a wide range of clinical variability in males and ...
Sarah Reiss, Laura Zalles, Catherine Gbekie, Reymundo Lozano   +3 more
doaj   +2 more sources

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

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   +2 more sources

Progress toward therapeutic potential for AFQ056 in Fragile X syndrome

Journal of Experimental Pharmacology, 2013
Mary Sourial, Connie Cheng, Laurie C Doering Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada Abstract: Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and the leading ...
Sourial M, Cheng C, Doering LC
doaj   +1 more source

Proteomics insights into fragile X syndrome: Unraveling molecular mechanisms and therapeutic avenues

Neurobiology of Disease
Fragile X Syndrome (FXS) is a neurodevelopment disorder characterized by cognitive impairment, behavioral challenges, and synaptic abnormalities, with a genetic basis linked to a mutation in the FMR1 (Fragile X Messenger Ribonucleoprotein 1) gene that ...
Diana A. Abbasi, Elizabeth Berry-Kravis, Xinyu Zhao, Stephanie M. Cologna   +3 more
doaj   +3 more sources

Case report: genetic analysis of a novel frameshift mutation in FMR1 gene in a Chinese family

Frontiers in Genetics, 2023
Fragile X syndrome (FXS) [OMIM 300624] is a common X-linked inherited syndrome with an incidence only second to that of trisomy 21. More than 95% of fragile X syndrome is caused by reduced or absent fragile X intellectual disability protein 1 (FMRP ...
Chunlei Jin, Xiangdong Zhang, Qiang Lei, Penglong Chen, Hui Hu, Shuangshuang Shen, Jiao Liu, Shixuanbao Ye   +7 more
doaj   +1 more source

An indirect examination of the function of problem behaviour associated with Fragile X Syndrome and Smith-Magenis Syndrome [PDF]

, 2011
Fragile X syndrome (FXS) and Smith-Magenis syndrome (SMS) are associated with a number of specific topographies of problem behavior. Very few studies have examined the function served by problem behavior in these groups.
Peter McGill, Paul Langthorne, McGill, Peter, Langthorne, Paul   +3 more
core   +1 more source