Results 1 to 10 of about 18,012 (216)

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

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
Rachel Michelle Sare, Abigaïl Lemons, Carolyn Beebe Smith   +2 more
exaly   +6 more sources

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   +7 more sources

Generation and characterization of FMR1 knockout zebrafish. [PDF]

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   +6 more sources

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

NAR Mol Med
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 >200 that remains unmethylated, rescuing them from expressing ...
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

Spontaneous rescue of a FMR1 repeat expansion and review of deletions in the FMR1 non-coding region

European Journal of Medical Genetics, 2021
Fragile X syndrome (FXS) is caused by CGG-repeat expansion in the 5’ UTR of FMR1 of >200 repeats. Rarely, FXS is caused by deletions; however, it is not clear whether deletions including only the non-coding region of FMR1 are pathogenic.
Emilie Erbs, Cecilie Mondrup Jacobsen, Dorte L Lildballe   +2 more
exaly   +6 more sources

Role of CTCF protein in regulating FMR1 locus transcription. [PDF]

PLoS Genetics, 2013
Fragile X syndrome (FXS), the leading cause of inherited intellectual disability, is caused by epigenetic silencing of the FMR1 gene, through expansion and methylation of a CGG triplet repeat (methylated full mutation). An antisense transcript (FMR1-AS1),
Stella Lanni, Martina Goracci, Loredana Borrelli, Giorgia Mancano, Pietro Chiurazzi, Umberto Moscato, Fabrizio Ferrè, Manuela Helmer-Citterich, Elisabetta Tabolacci, Giovanni Neri   +9 more
doaj   +2 more sources

Elevated levels of FMR1 mRNA in granulosa cells are associated with low ovarian reserve in FMR1 premutation carriers.

PLoS ONE, 2014
AimTo assess the role of mRNA accumulation in granulosa cells as the cause of low ovarian response among FMR1 premutation carriers undergoing pre-implantation genetic diagnosis (PGD).DesignCase control study in an academic IVF unit.
Shai E Elizur, Oshrit Lebovitz, Sanaz Derech-Haim, Olga Dratviman-Storobinsky, Baruch Feldman, Jehoshua Dor, Raoul Orvieto, Yoram Cohen   +7 more
doaj   +2 more sources

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   +2 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