Results 1 to 10 of about 14,330 (189)

Comparative Behavioral Phenotypes of Fmr1 KO, Fxr2 Het, and Fmr1 KO/Fxr2 Het Mice

Brain Sciences, 2019
Fragile X syndrome (FXS) is caused by silencing of the FMR1 gene leading to loss of the protein product fragile X mental retardation protein (FMRP). FXS is the most common monogenic cause of intellectual disability. There are two known mammalian paralogs
Carolyn Smith, Rachel Sare, Abigaïl Lemons   +2 more
exaly   +3 more sources

Contribution of astrocytic calcium signaling to auditory hypersensitivity in a mouse model of fragile X syndrome [PDF]

Neurobiology of Disease
Hypersensitivity to sensory stimuli is a common co-morbidity of Fragile X syndrome (FXS), the leading monogenic form of intellectual disability and autism spectrum disorder (ASD). Neuronal impairments associated with auditory and tactile hypersensitivity
Lara Bergdolt, Alexandria Anding, Ola Alshaqi, Zahra Arbabi, Michael Douchey, Ember Eldridge, Katherine Hoffman, Ashley Reid, Kiran Sapkota, Daniel Monaghan, Olga Taraschenko, Ragunathan Padmashri, Anna Dunaevsky   +12 more
doaj   +2 more sources

Myeloid Fmr1 deficiency in mice results in reduced serum cholesterol and altered bile pathway gene expression. [PDF]

PLoS ONE
Fragile X Syndrome (FXS) is a genetic disorder caused by increased CGG repeats in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene which encodes an RNA-binding protein that can alter mRNA processing, translation and stability. Among the effects of
Xiaoning Zhao, Jianchang Zhou, Kuang-Yuh Chyu, Ebru Erbay, Bojan Cercek, Prediman K Shah, Paul C Dimayuga   +6 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

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

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

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

Increased body weight in mice with fragile X messenger ribonucleoprotein 1 (Fmr1) gene mutation is associated with hypothalamic dysfunction

Scientific Reports, 2023
Mutations in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene are linked to Fragile X Syndrome, the most common monogenic cause of intellectual disability and autism. People affected with mutations in FMR1 have higher incidence of obesity, but the
Rebecca E. Ruggiero-Ruff, Pedro A. Villa, Sarah Abu Hijleh, Bryant Avalos, Nicholas V. DiPatrizio, Sachiko Haga-Yamanaka, Djurdjica Coss   +6 more
doaj   +1 more source

Altered expression of fragile X mental retardation-1 (FMR1) in the thymus in autoimmune myasthenia gravis

Journal of Neuroinflammation, 2021
Predisposition to autoimmunity and inflammatory disorders is observed in patients with fragile X-associated syndromes. These patients have increased numbers of CGG triplets in the 5’ UTR region of FMR1 (Fragile X Mental Retardation 1) gene, that affects ...
Scott Thomas, Odessa-Maud Fayet, Frédérique Truffault, Elie Fadel, Bastien Provost, Abderaouf Hamza, Sonia Berrih-Aknin, Jean-Paul Bonnefont, Rozen Le Panse   +8 more
doaj   +1 more source

Altered GnRH neuron and ovarian innervation characterize reproductive dysfunction linked to the Fragile X messenger ribonucleoprotein (Fmr1) gene mutation

Frontiers in Endocrinology, 2023
IntroductionMutations in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene cause Fragile X Syndrome, the most common monogenic cause of intellectual disability.
Pedro A. Villa, Nancy M. Lainez, Carrie R. Jonak, Sarah C. Berlin, Iryna M. Ethell, Djurdjica Coss   +5 more
doaj   +1 more source