Results 11 to 20 of about 18,012 (216)

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.
Willemsen, R. (Rob), Oostra, B.A. (Ben), Willemsen, Rob, Oostra, Ben   +3 more
core   +4 more sources

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

Journal of Neurodevelopmental Disorders, 2013
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 ...
Cornelia Brendel, Merle Hillebrand, Jutta Gärtner, Mielke, Benjamin, Gärtner, Jutta, Benjamin Mielke, Hillebrand, Merle, Brendel, Cornelia, Huppke, Peter, Peter Huppke   +9 more
core   +5 more sources

Fragile X mental retardation 1 gene FMR1 promotes proliferation, migration, and invasion of gastric cancer cells via c-MYC [PDF]

Journal of Translational Medicine
Background Gastric cancer is a highly aggressive malignancy with poor prognosis and low survival rates. The Fragile X Mental Retardation 1 (FMR1) gene has been implicated in the development and progression of various tumors, but its role in gastric ...
Yiqian Han, Chenxi Mao, Kangjie Zhou, Mingtong Liang, Luming Zhao, Yidong Hong, Jingzhou Zhang, Nan Hu, Fenglei Wu   +8 more
doaj   +2 more sources

Development and validation of a single‐tube multiplex PCR for rapid screening of Fragile X and Fragile XE syndromes of FMR1 and FMR2 genes [PDF]

Songklanakarin Journal of Science and Technology (SJST), 2021
Fragile X (FRAXA) syndrome and fragile XE (FRAXE) syndrome are caused by the expansion of a trinucleotide repeat in the FMR1 and FMR2 genes, respectively.
Areerat Hnoonual, Duangkamol Tangviriyapaiboon, Chariyawan Charalsawadi, Pornprot Limprasert   +3 more
doaj   +1 more source

A fragile balance: FMR1 expression levels [PDF]

Human Molecular Genetics, 2003
The FMR1 gene is involved in three different syndromes, the Fragile X syndrome, premature ovarian failure (POF) and the Fragile X-associated tremor/ataxia syndrome (FXTAS) at older age.
Ben A. Oostra, Rob Willemsen, Willemsen, Rob, Oostra, Ben   +3 more
core   +4 more sources

FMR1 in global populations

American journal of human genetics, 1996
Fragile X syndrome, a frequent form of inherited mental retardation, results from the unstable expansion of a cryptic CGG repeat within the 5' UTR region of the FMR1 gene.
EICHLER E, WARREN ST, CHALIFOUX M, KUNST CB, BULLARD J, KARICKHOFF L, HOLDEN JJ, NELSON DL, TORRONI, ANTONIO, ZERYLNICK C   +9 more
core   +2 more sources

FMR1 Disorders: Basics of Biology and Therapeutics in Development

Cells
Fragile X Syndrome (FXS) presents with a constellation of phenotypes, including trouble regulating emotion and aggressive behaviors, disordered sleep, intellectual impairments, and atypical physical development. Genetic study of the X chromosome revealed
Drew A. Gillett, Helene Tigro, Yuan Wang, Zucai Suo   +3 more
doaj   +2 more sources

The influence of sex, genotype, and dose on serum and hippocampal cytokine levels in juvenile mice developmentally exposed to a human-relevant mixture of polychlorinated biphenyls

Current Research in Toxicology, 2020
Polychlorinated biphenyls (PCBs) are pervasive environmental contaminants implicated as risk factors for neurodevelopmental disorders (NDDs). Immune dysregulation is another NDD risk factor, and developmental PCB exposures are associated with early life ...
Lauren Matelski, Kimberly P. Keil Stietz, Sunjay Sethi, Sandra L. Taylor, Judy Van de Water, Pamela J. Lein   +5 more
doaj   +1 more source

FMRP regulates the subcellular distribution of cortical dendritic spine density in a non-cell-autonomous manner

Neurobiology of Disease, 2021
Fragile X syndrome (FXS) is the most common form of intellectual disability that arises from the dysfunction of a single gene—Fmr1. The main neuroanatomical correlate of FXS is elevated dendritic spine density on cortical pyramidal neurons, which has ...
Katherine M. Bland, Adam Aharon, Eden L. Widener, M. Irene Song, Zachary O. Casey, Yi Zuo, George S. Vidal   +6 more
doaj   +1 more source

miRNA expression and interaction with the 3′UTR of FMR1 in FRAXopathy pathogenesis

Non-coding RNA Research, 2021
FRAXopathies are caused by the expansion of the CGG repeat in the 5′UTR of the FMR1 gene, which encodes the protein responsible for the synthesis of FMRP.
Alexander A. Dolskiy, Andrey A. Yarushkin, Irina V. Grishchenko, Natalya A. Lemskaya, Alexey V. Pindyurin, Lidiya V. Boldyreva, Vladimir O. Pustylnyak, Dmitry V. Yudkin   +7 more
doaj   +1 more source