Results 21 to 30 of about 14,330 (189)

Fragile X family members have important and non-overlapping functions

Biomolecular Concepts, 2011
The fragile X family of genes encodes a small family of RNA binding proteins including FMRP, FXR1P and FXR2P that were identified in the 1990s. All three members are encoded by 17 exons and show alternative splicing at the 3′ ends of their respective ...
Winograd Claudia, Ceman Stephanie
doaj   +1 more source

Methotrexate treatment of FraX fibroblasts results in FMR1 transcription but not in detectable FMR1 protein levels [PDF]

Journal of Neurodevelopmental Disorders, 2013
Abstract Background Fragile X syndrome is caused by the loss of FMRP expression due to methylation of the FMR1 promoter. Treatment of fragile X syndrome patients’ lymphoblastoid cells with 5-azadeoxycytidine results in demethylation of the promoter and reactivation of the gene.
Brendel, Cornelia, Mielke, Benjamin, Hillebrand, Merle, Gärtner, Jutta, Huppke, Peter   +4 more
openaire   +3 more sources

Metabolic Alterations in FMR1 Premutation Carriers [PDF]

Frontiers in Molecular Biosciences, 2020
FMR1 gene premutation carriers are at risk of developing Fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X-associated primary ovarian insufficiency (FXPOI) in adulthood. Currently the development of biomarkers and effective treatments in FMR1 premutations is still in its infancy.
Yiqu Cao, Yiqu Cao, Yun Peng, Yun Peng, Ha Eun Kong, Emily G. Allen, Peng Jin   +6 more
openaire   +3 more sources

Variable Expressivity in Fragile X Syndrome: Towards the Identification of Molecular Characteristics That Modify the Phenotype

The Application of Clinical Genetics, 2021
César Payán-Gómez,1 Julian Ramirez-Cheyne,2,3 Wilmar Saldarriaga2,3 1Deparment of Biology, Faculty of Natural Sciences, Universidad del Rosario, Bogotá, Colombia; 2Health Faculty, Universidad del Valle, Cali, Colombia; 3Hospital Universitario del Valle ...
Payán-Gómez C, Ramirez-Cheyne J, Saldarriaga W   +2 more
doaj  

Fmr1-Deficiency Impacts Body Composition, Skeleton, and Bone Microstructure in a Mouse Model of Fragile X Syndrome

Frontiers in Endocrinology, 2019
Fragile X syndrome (FXS) is a neurodevelopmental disorder associated with intellectual disability, hyperactivity, and autism. FXS is due to the silencing of the X-linked FMR1 gene.
Antoine Leboucher, Patricia Bermudez-Martin, Xavier Mouska, Ez-Zoubir Amri, Didier F. Pisani, Laetitia Davidovic   +5 more
doaj   +1 more source

Evaluation of the role of FMR1 CGG repeat allele in Parkinson’s disease from the Chinese population

Frontiers in Aging Neuroscience, 2023
ObjectiveThere is controversial evidence that FMR1 premutation or “gray zone” (GZ) allele (small CGG expansion, 45–54 repeats) was associated with Parkinson’s disease (PD).
Juan Chen, Juan Chen, Yuwen Zhao, Yuwen Zhao, Xun Zhou, Jin Xue, Qiao Xiao, Hongxu Pan, Xiaoxia Zhou, Yaqin Xiang, Jian Li, Liping Zhu, Zhou Zhou, Yang Yang, Qian Xu, Qiying Sun, Xinxiang Yan, Jieqiong Tan, Jinchen Li, Jinchen Li, Jinchen Li, Jifeng Guo, Jifeng Guo, Jifeng Guo, Jifeng Guo, Ranhui Duan, Beisha Tang, Beisha Tang, Beisha Tang, Beisha Tang, Qiao Yu, Zhenhua Liu, Zhenhua Liu, Zhenhua Liu, Zhenhua Liu   +34 more
doaj   +1 more source

Modeling Fragile X Syndrome: Characterizing Fmr1 Gene Knockout Mice across Genotype, Behavior, and Morphology

Neurological Sciences and Neurophysiology
Objective: Fragile X syndrome (FXS) is a hereditary condition resulting from dynamic mutations in the Fmr1 gene, leading to reduced or absent fragile X mental retardation protein (FMRP). Although molecular genetic diagnostics for FXS have advanced, there
Yonghua Liao, Junjie Liu, Jinyuan Zhang, Da Chen, Yifan Liu, Zhuolin Li, Hao Su, Jiaye Tang, Shengqiang Chen   +8 more
doaj   +1 more source

Epigenetic Characterization of the FMR1 Promoter in Induced Pluripotent Stem Cells from Human Fibroblasts Carrying an Unmethylated Full Mutation

Stem Cell Reports, 2014
Silencing of the FMR1 gene leads to fragile X syndrome, the most common cause of inherited intellectual disability. To study the epigenetic modifications of the FMR1 gene during silencing in time, we used fibroblasts and induced pluripotent stem cells ...
Celine E.F. de Esch, Mehrnaz Ghazvini, Friedemann Loos, Nune Schelling-Kazaryan, W. Widagdo, Shashini T. Munshi, Erik van der Wal, Hannie Douben, Nilhan Gunhanlar, Steven A. Kushner, W.W.M. Pim Pijnappel, Femke M.S. de Vrij, Niels Geijsen, Joost Gribnau, Rob Willemsen   +14 more
doaj   +1 more source

Neuroimaging Insight Into Fragile X-Associated Neuropsychiatric Disorders: Literature Review

Frontiers in Psychiatry, 2021
FMR1 premutation is defined by 55–200 CGG repeats in the Fragile X Mental Retardation 1 (FMR1) gene. FMR1 premutation carriers are at risk of developing a neurodegenerative disease called fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X ...
Andrea Elias-Mas, Andrea Elias-Mas, Andrea Elias-Mas, Maria Isabel Alvarez-Mora, Maria Isabel Alvarez-Mora, Maria Isabel Alvarez-Mora, Conxita Caro-Benito, Laia Rodriguez-Revenga, Laia Rodriguez-Revenga, Laia Rodriguez-Revenga   +9 more
doaj   +1 more source

Language dysfluencies in females with the FMR1 premutation [PDF]

Brain and Cognition, 2013
Recent evidence suggests that there are age-related neurocognitive implications for fragile X premutation carriers, including deficits in executive function, and that such deficits are more common in male than female premutation carriers. The purpose of the current study is to examine one aspect of executive function, language dysfluencies, in a group ...
Audra M, Sterling, Marsha, Mailick, Jan, Greenberg, Steven F, Warren, Nancy, Brady   +4 more
openaire   +2 more sources