Results 61 to 70 of about 19,426 (255)

Postpartum Depression in Women with the FMR1 Premutation [PDF]

Current Psychiatry Reviews, 2013
Psychiatric disorders in women with the FMR1 premutation are common and include attention deficit hyperactivity disorder, anxiety, depression, and eating disorders. This pilot study explored the risk factors for postpartum depression (PPD) in women with the premutation.We conducted a chart review of 50 women premutation carriers with major depressive ...
Roberta W. Obadia, Ana-Maria Iosif, Andreea L. Seritan   +2 more
openaire   +3 more sources

Fmr1-Deficiency Impacts Body Composition, Skeleton, and Bone Microstructure in a Mouse Model of Fragile X Syndrome

Frontiers in Endocrinology, 2019
Fragile X syndrome (FXS) is a neurodevelopmental disorder associated with intellectual disability, hyperactivity, and autism. FXS is due to the silencing of the X-linked FMR1 gene.
Antoine Leboucher, Patricia Bermudez-Martin, Xavier Mouska, Ez-Zoubir Amri, Didier F. Pisani, Laetitia Davidovic   +5 more
doaj   +1 more source

Neuroimaging Insight Into Fragile X-Associated Neuropsychiatric Disorders: Literature Review

Frontiers in Psychiatry, 2021
FMR1 premutation is defined by 55–200 CGG repeats in the Fragile X Mental Retardation 1 (FMR1) gene. FMR1 premutation carriers are at risk of developing a neurodegenerative disease called fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X ...
Andrea Elias-Mas, Andrea Elias-Mas, Andrea Elias-Mas, Maria Isabel Alvarez-Mora, Maria Isabel Alvarez-Mora, Maria Isabel Alvarez-Mora, Conxita Caro-Benito, Laia Rodriguez-Revenga, Laia Rodriguez-Revenga, Laia Rodriguez-Revenga   +9 more
doaj   +1 more source

Small Molecules Targeting H3K9 Methylation Prevent Silencing of Reactivated FMR1 Alleles in Fragile X Syndrome Patient Derived Cells

Genes, 2020
In fragile X syndrome (FXS), expansion of a CGG repeat tract in the 5′-untranslated region of the FMR1 gene to >200 repeats causes transcriptional silencing by inducing heterochromatin formation. Understanding the mechanism of FMR1 silencing is important
D. Kumari, Nicholas Sciascia, K. Usdin
semanticscholar   +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  

Epigenetic Characterization of the FMR1 Promoter in Induced Pluripotent Stem Cells from Human Fibroblasts Carrying an Unmethylated Full Mutation

Stem Cell Reports, 2014
Silencing of the FMR1 gene leads to fragile X syndrome, the most common cause of inherited intellectual disability. To study the epigenetic modifications of the FMR1 gene during silencing in time, we used fibroblasts and induced pluripotent stem cells ...
Celine E.F. de Esch, Mehrnaz Ghazvini, Friedemann Loos, Nune Schelling-Kazaryan, W. Widagdo, Shashini T. Munshi, Erik van der Wal, Hannie Douben, Nilhan Gunhanlar, Steven A. Kushner, W.W.M. Pim Pijnappel, Femke M.S. de Vrij, Niels Geijsen, Joost Gribnau, Rob Willemsen   +14 more
doaj   +1 more source

Reduced mitochondrial fusion and Huntingtin levels contribute to impaired dendritic maturation and behavioral deficits in Fmr1 mutant mice

Nature Neuroscience, 2019
Fragile X syndrome results from a loss of the RNA-binding protein fragile X mental retardation protein (FMRP). How FMRP regulates neuronal development and function remains unclear.
Minjie Shen, Feifei Wang, M. Li, N. Sah, Michael E. Stockton, Joseph J. Tidei, Yu Gao, Tomer Korabelnikov, Sudharsan Kannan, Jason D. Vevea, E. Chapman, A. Bhattacharyya, H. van Praag, Xinyu Zhao   +13 more
semanticscholar   +1 more source

FMRpolyG accumulates in FMR1 premutation granulosa cells

Journal of Ovarian Research, 2020
Background Fragile X premutation (Amplification of CGG number 55–200) is associated with increased risk for fragile X-Associated Premature Ovarian Insufficiency (FXPOI) in females and fragile X-associated tremor/ataxia syndrome (FXTAS) predominantly in ...
M. Friedman-Gohas, S. Elizur, O. Dratviman‐Storobinsky, A. Aizer, J. Haas, H. Raanani, R. Orvieto, Y. Cohen   +7 more
semanticscholar   +1 more source

Modeling Fragile X Syndrome: Characterizing Fmr1 Gene Knockout Mice across Genotype, Behavior, and Morphology

Neurological Sciences and Neurophysiology
Objective: Fragile X syndrome (FXS) is a hereditary condition resulting from dynamic mutations in the Fmr1 gene, leading to reduced or absent fragile X mental retardation protein (FMRP). Although molecular genetic diagnostics for FXS have advanced, there
Yonghua Liao, Junjie Liu, Jinyuan Zhang, Da Chen, Yifan Liu, Zhuolin Li, Hao Su, Jiaye Tang, Shengqiang Chen   +8 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