Results 11 to 20 of about 14,330 (189)

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   +5 more sources

Generation and characterization of FMR1 knockout zebrafish.

PLoS ONE, 2009
Fragile X syndrome (FXS) is one of the most common known causes of inherited mental retardation. The gene mutated in FXS is named FMR1, and is well conserved from human to Drosophila.
Marjo J den Broeder, Herma van der Linde, Judith R Brouwer, Ben A Oostra, Rob Willemsen, René F Ketting   +5 more
doaj   +5 more sources

<i>FMR1</i> RNA interaction with DNMT1 blocks DNA methylation at the <i>FMR1 locus</i>. [PDF]

NAR Mol Med
Abstract In the FMR1 gene, expansion of the CGG triplet beyond 200 repeats triggers DNA methylation, resulting in the Fragile X Syndrome (FXS). There exist rare individuals who carry a CGG expansion &gt;200 that remains unmethylated, rescuing them from expressing the FXS phenotype.
Nobile V, Niccolini B, Pucci C, Pietrobono R, Modafferi C, Esposito CL, Cappoli N, Bianchetti G, Maulucci G, Aceto G, D'Ascenzo M, Chiurazzi P, Dello Russo C, Genuardi M, Neri G, Di Ruscio A, Tabolacci E.   +16 more
europepmc   +4 more sources

Aging in Individuals With the FMR1 Mutation [PDF]

American Journal on Mental Retardation, 2004
Individuals with fragile X mental retardation 1 (FMR1) premutation (55 to 200 CGG repeats) are typically unaffected by fragile X syndrome. However, a subgroup of older males with the premutation have developed a neurological syndrome, which usually begins between 50 and 70 years and is associated with a progressive intention tremor and/or ataxia ...
S, Jacquemont, F, Farzin, D, Hall, M, Leehey, F, Tassone, L, Gane, L, Zhang, J, Grigsby, T, Jardini, F, Lewin, E, Berry-Kravis, P J, Hagerman, R J, Hagerman   +12 more
openaire   +2 more sources

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

FMR1 promotes the progression of colorectal cancer cell by stabilizing EGFR mRNA in an m6A-dependent manner

Cell Death and Disease, 2022
FMR1, a new m6A reader, is known to be involved in the regulation of cancer progression. However, its role, regulatory mechanism, and clinical significance in colorectal cancer (CRC) are elusive.
Yuhan Hu, Qingzu Gao, Shuai Ma, Pei Yu, Shuang Ding, Xiaofei Yao, Zheying Zhang, Shuya Lu, Manman Lu, Jinghang Zhang, Yanling Wang, Xinlai Qian, Jiateng Zhong   +12 more
doaj   +1 more source

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
doaj   +1 more source

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

FMR1 and Autism, an Intriguing Connection Revisited [PDF]

Genes, 2021
Autism Spectrum Disorder (ASD) represents a distinct phenotype of behavioral dysfunction that includes deficiencies in communication and stereotypic behaviors. ASD affects about 2% of the US population. It is a highly heritable spectrum of conditions with substantial genetic heterogeneity.
William Fyke, Milen Velinov
openaire   +2 more sources

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
doaj