Results 31 to 40 of about 22,945 (246)
Transcriptomic signatures of neuronal differentiation and their association with risk genes for autism spectrum and related neuropsychiatric disorders. [PDF]
, 2016 Genes for autism spectrum disorders (ASDs) are also implicated in fragile X syndrome (FXS), intellectual disabilities (ID) or schizophrenia (SCZ), and converge on neuronal function and differentiation. The SH-SY5Y neuroblastoma cell line, the most widely
Chiocchetti, AG +10 more
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FMRP regulates neuronal migration via MAP1B
, 2023 Abstract The Fragile X Syndrome (FXS) is the most common form of inherited intellectual disability, and the first monogenic cause of Autism Spectrum Disorder. FXS is caused by the absence of the RNA-binding protein FMRP (Fragile X Messenger Ribonucleoprotein).
S. Messaoudi +7 more
openaire +1 more source
The Application of Clinical Genetics, 2021 César Payán-Gómez,1 Julian Ramirez-Cheyne,2,3 Wilmar Saldarriaga2,3 1Deparment of Biology, Faculty of Natural Sciences, Universidad del Rosario, Bogotá, Colombia; 2Health Faculty, Universidad del Valle, Cali, Colombia; 3Hospital Universitario del Valle ...
Payán-Gómez C +2 more
doaj
Frontiers in Molecular Neuroscience, 2018 Fragile X syndrome (FXS) is the leading monogenic cause of autism and intellectual disability. The disease arises through loss of fragile X mental retardation protein (FMRP), which normally exhibits peak expression levels in early-use critical periods ...
James C. Sears +3 more
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Early intervention combined with targeted treatment promotes cognitive and behavioral improvements in young children with fragile x syndrome. [PDF]
, 2012 Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability due to an expansion in the full mutation range (>200 CGG repeats) of the promoter region of the FMR1 gene leading to gene silencing.
Borodyanskara, Mariya +3 more
core +3 more sources
SnapShot: FMRP mRNA Targets and Diseases
Cell, 2014 FMRP, or fragile X mental retardation protein is an RNA-binding protein. Mutations in the FMRP protein have been associated with neurological disease as have a number of its mRNA-binding targets. This SnapShot presents 40 bona fide FMRP targets for which mRNA binding and protein regulation have been robustly reported in mammals along with the diseases ...
Pasciuto, E, BAGNI, CLAUDIA
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Phosphorylation of FMRP inhibits association with Dicer [PDF]
RNA, 2009 Fragile X syndrome is caused by an absence of the protein product of the fragile X mental retardation gene (FMR1). The fragile X mental retardation protein (FMRP) is an RNA-binding protein that regulates translation of associated mRNAs; however, the mechanism for this regulation remains unknown.
Anne, Cheever, Stephanie, Ceman
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FMRP differentially regulates BK channels [PDF]
Journal of General Physiology, 2020 Study suggests that the fragile X syndrome-associated protein FMRP can interact with different types of BK channels and modulate their kinetics in different ways.
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Immune dysregulation as a cause of autoinflammation in fragile X premutation carriers: link between FMRI CGG repeat number and decreased cytokine responses. [PDF]
, 2014 BackgroundIncreased rates of autoinflammatory and autoimmune disorders have been observed in female premutation carriers of CGG repeat expansion alleles of between 55-200 repeats in the fragile X mental retardation 1 (FMR1) gene.
Ashwood, Paul +5 more
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A phenotypic and molecular characterization of the fmr1-tm1Cgr Fragile X mouse [PDF]
, 2004 Fragile X Syndrome is the most common form of\ud inherited mental retardation. It is also known for having\ud a substantial behavioral morbidity, including autistic features. In humans, Fragile X Syndrome is almost always\ud caused by inactivation of the
Bauchwitz, Dr. Robert P.
core +1 more source