Results 101 to 110 of about 28,343 (239)

Mouse models of fragile X-related disorders

Disease Models & Mechanisms, 2023
Rob Willemsen, R. Frank Kooy
doaj   +1 more source

Analysis of the Fragile X Mental Retardation 1 Premutation in Han Chinese Women Presenting with Primary Ovarian Insufficiency

Reproductive and Developmental Medicine, 2017
Background: The aim of this study is to investigate the prevalence of the fragile X mental retardation 1 (FMR1) gene premutation in Han Chinese women with primary ovarian insufficiency (POI) using a rapid and cost-effective method.
Qing Chen, Qi-Qi Wang, Bao-Zhu Cai, Xiao-Jun Ren, Feng Zhang, Xiao-Jin Zhang   +5 more
doaj   +1 more source

Fragile X syndrome. [PDF]

, 2014
Fragile X Syndrome (FXS) is a genetic disease due to a CGG trinucleotide expansion, named full mutation (greater than 200 CGG repeats), in the fragile X mental retardation 1 gene locus Xq27.3; which leads to an hypermethylated region in the gene promoter
Ayala-Zapata, Sebastián, Forero-Forero, Jose Vicente, González-Teshima, Laura Yuriko, Hagerman, Randi, Saldarriaga, Wilmar, Tassone, Flora   +5 more
core   +1 more source

Generation of a FMR1 homozygous knockout human embryonic stem cell line (WAe009-A-16) by CRISPR/Cas9 editing

Stem Cell Research, 2019
Mutations in FMR1 gene is the cause of Fragile X Syndrome (FXS) leading inherited cause of intellectual disability and autism spectrum disorders. FMR1 gene encodes Fragile X Mental Retardation Protein (FMRP) which is a RNA binding protein and play ...
Subhajit Giri, Meera Purushottam, Biju Viswanath, Ravi S. Muddashetty   +3 more
doaj   +1 more source

Modeling Fragile X Syndrome in Drosophila

Frontiers in Molecular Neuroscience, 2018
Intellectual disability (ID) and autism are hallmarks of Fragile X Syndrome (FXS), a hereditary neurodevelopmental disorder. The gene responsible for FXS is Fragile X Mental Retardation gene 1 (FMR1) encoding the Fragile X Mental Retardation Protein ...
Małgorzata Drozd, Małgorzata Drozd, Barbara Bardoni, Barbara Bardoni, Maria Capovilla, Maria Capovilla   +5 more
doaj   +1 more source

Short tandem repeat expansions in 1532 patients with neurodegenerative dementia in China [PDF]

Alzheimers Dement
Abstract Background Pathogenic short tandem repeat (STR) expansions cause many neurodegenerative diseases, including frontotemporal dementia (FTD), Huntington's Disease (HD) and neuronal intranuclear inclusion disease (NIID). These STR‐associated neurodegenerative dementias are characterized by phenotypic and genetic heterogeneity.
Zhu Y, Xiao X, Xu T, Yang Q, Hao X, Zhang S, Tian Y, Jiao B, Shen L.   +8 more
europepmc   +2 more sources

Multifaceted Changes in Synaptic Composition and Astrocytic Involvement in a Mouse Model of Fragile X Syndrome. [PDF]

, 2019
Fragile X Syndrome (FXS), a common inheritable form of intellectual disability, is known to alter neocortical circuits. However, its impact on the diverse synapse types comprising these circuits, or on the involvement of astrocytes, is not well known. We
Madison, Daniel V, Micheva, Kristina D, Perez, Marc M, Sapiro, Guillermo, Simhal, Anish K, Zuo, Yi   +5 more
core   +1 more source

FMR1-dependent variability of ovarian aging patterns is already apparent in young oocyte donors [PDF]

, 2013
Norbert Gleicher, Ann Kim, David H. Barad, A. Shohat-Tal, E. Lazzaroni, Tamar Michaeli, Ho‐Joon Lee, Vitaly A. Kushnir, Andrea Weghofer   +8 more
openalex   +1 more source

Fmr1 protects cardiomyocytes against lipopolysaccharide‑induced myocardial injury

Experimental and Therapeutic Medicine, 2018
The present study explored the mechanisms by which fragile X mental retardation 1 (fmr1) overexpression inhibits lipopolysaccharide (LPS)-induced cardiomyocyte injury. Factors including oxidative stress reaction, mitochondrial membrane potential variation and cell apoptosis were evaluated.
Bao, Jiasheng, Ye, Chen, Zheng, Zhelan, Zhou, Zhengwen   +3 more
openaire   +3 more sources

EZH2 inhibition reactivates epigenetically silenced FMR1 and normalizes molecular and electrophysiological abnormalities in fragile X syndrome neurons

Frontiers in Neuroscience
Fragile X Syndrome (FXS) is a neurological disorder caused by epigenetic silencing of the FMR1 gene. Reactivation of FMR1 is a potential therapeutic approach for FXS that would correct the root cause of the disease.
Minggang Fang, Sara K. Deibler, Pranathi Meda Krishnamurthy, Feng Wang, Paola Rodriguez, Shahid Banday, Ching-Man Virbasius, Miguel Sena-Esteves, Jonathan K. Watts, Michael R. Green   +9 more
doaj   +1 more source