Results 41 to 50 of about 19,643 (207)

The generation of a conditional Fmr1 knock out mouse model to study Fmrp function in vivo

Neurobiology of Disease, 2006
The FMR1 gene, mutated in Fragile X syndrome patients, has been modeled in mice with a neomycin cassette inserted in exon 5 of the mouse Fmr1 gene creating an Fmr1 knockout (Fmr1 KO) allele.
E.J. Mientjes, I. Nieuwenhuizen, L. Kirkpatrick, T. Zu, M. Hoogeveen-Westerveld, L. Severijnen, M. Rifé, R. Willemsen, D.L. Nelson, B.A. Oostra   +9 more
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Tau reduction attenuates autism-like features in Fmr1 knockout mice

Molecular Autism, 2023
Background Fragile X syndrome (FXS) is a leading cause of autism spectrum disorder (ASD) and resulted from a loss of the FMR1-encoded fragile X messenger ribonucleoprotein 1 (FMRP) protein due to large CGG repeat expansions in the promoter region of the ...
Shanshan Zhao, Xiangyu Jiang, Linkun Han, Yiru Jiang, Yong Wang, Jian Meng, Xiang Zhu, Xian Zhang, Hong Luo, Yun-wu Zhang   +9 more
doaj   +1 more source

Rescue of Fragile X Syndrome Neurons by DNA Methylation Editing of the FMR1 Gene.

Cell, 2018
Fragile X syndrome (FXS), the most common genetic form of intellectual disability in males, is caused by silencing of the FMR1 gene associated with hypermethylation of the CGG expansion mutation in the 5' UTR of FMR1 in FXS patients.
Shawn Liu, Hao Wu, Marine Krzisch, Xuebing Wu, J. Graef, J. Muffat, Denes Hnisz, Charles H. Li, Bingbing Yuan, Chuanyun Xu, Yun Li, Dan Vershkov, A. Cacace, R. Young, R. Jaenisch   +14 more
semanticscholar   +1 more source

FMR1: A gene with three faces [PDF]

Biochimica et Biophysica Acta (BBA) - General Subjects, 2009
The FMR1 gene is involved in three different syndromes, the fragile X syndrome (FXS), premature ovarian insufficiency (POI) and the fragile X-associated tremor/ataxia syndrome (FXTAS) at older age. Fragile X syndrome is caused by an expansion of a CGG repeat above 200 units in the FMR1 gene resulting in the absence of the FMR1 mRNA and protein.
Oostra, Ben, Willemsen, Rob
openaire   +3 more sources

Gamma power abnormalities in a Fmr1-targeted transgenic rat model of fragile X syndrome

Scientific Reports, 2020
Fragile X syndrome (FXS) is characteristically displayed intellectual disability, hyperactivity, anxiety, and abnormal sensory processing. Electroencephalography (EEG) abnormalities are also observed in subjects with FXS, with many researchers paying ...
Naoki Kozono, A. Okamura, Sokichi Honda, M. Matsumoto, Takuma Mihara   +4 more
semanticscholar   +1 more source

Fragile X Premutation: Medications, Therapy and Lifestyle Advice

Pharmacogenomics and Personalized Medicine, 2021
Deepika Kour Sodhi,1 Randi Hagerman1,2 1The MIND Institute, University of California Davis Health, Sacramento, CA, USA; 2Department of Pediatrics, University of California Davis Health, Sacramento, CA, USACorrespondence: Randi HagermanUC Davis MIND ...
Sodhi DK, Hagerman R
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Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety

Journal of Neurodevelopmental Disorders, 2017
Background Autonomic dysfunction is implicated in a range of psychological conditions, including depression and anxiety. The fragile X mental retardation-1 (FMR1) premutation is a common genetic mutation that affects ~1:150 women and is associated with ...
Jessica Klusek, Giuseppe LaFauci, Tatyana Adayev, W. Ted Brown, Flora Tassone, Jane E. Roberts   +5 more
doaj   +1 more source

Exosomal FMR1-AS1 facilitates maintaining cancer stem-like cell dynamic equilibrium via TLR7/NFκB/c-Myc signaling in female esophageal carcinoma

Molecular Cancer, 2019
Though esophageal cancer is three to four times more common among males than females worldwide, this type of cancer still ranks in the top incidence among women, even more than the female specific cancer types.
Wei Li, Liyuan Zhang, Binbin Guo, Jieqiong Deng, Siqi Wu, Fang Li, Yirong Wang, Jiachun Lu, Yifeng Zhou   +8 more
semanticscholar   +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

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
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