Results 101 to 110 of about 18,012 (216)

Expression analysis of the Fragile X messenger ribonucleoprotein 1 (FMR1) gene in FMR1-associated disorders [PDF]

, 2023
The human fragile X messenger ribonucleoprotein 1 (FMR1) gene contains an expansion-prone trinucleotide CGG repeat that alters gene expression, giving rise to various central nervous system (CNS)-centric disorders.
Randol, Jamie Leah
core  

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

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

Rin cooperates with FMR1 to suppress growth.

, 2013
(A–C) Scanning electron micrographs of adult control (A), FMR1D113M (B) and rin2 (C) mutant eyes generated by eyFLP/FRT-mediated mitotic recombination. Scale bar represents 100 µm.
Hugo Stocker (2648), Roland Baumgartner (433029), Ernst Hafen (2653)   +2 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

Influenza delle triplette CGG del gene FRMR1 premutate, intermedie o non interrotte in sindromi neurologiche (atrofia multisistemica cerebellare o MSA-C e atassia cerebellare ad esordio tardivo o ILOCA).

, 2007
L'espansione delle ripetizioni trinucleotidiche CGG (>200) nella regione 5' non tradotta (5'UTR) del gene FMR1 è la causa prevalente di ritardo mentale ereditario. Le donne portatrici e gli uomini portatori hanno ripetizioni espanse tra 55 e 200 (alleli
CARSANA, ANTONELLA
core  

Altered olfactory responses in Fmr1 KO mice

Fragile X syndrome (FXS) is a neurodevelopmental disorder oftentimes associated with abnormal social behaviors and altered sensory responsiveness. It is hypothesized that the inappropriate filtering of sensory stimuli, including olfaction, can lead to ...
Teena Philip, Jeong Ben Park, Hye Young Lee, Amtul-Noor Rana, Jan Tuma   +4 more
core   +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

Negative Effects of Chronic Rapamycin Treatment on Behavior in a Mouse Model of Fragile X Syndrome

Frontiers in Molecular Neuroscience, 2018
Fragile X syndrome (FXS), the most common form of inherited intellectual disability, is also highly associated with autism spectrum disorders (ASD). It is caused by expansion of a CGG repeat sequence on the X chromosome resulting in silencing of the FMR1
Rachel M. Saré, Alex Song, Inna Loutaev, Anna Cook, Isabella Maita, Abigail Lemons, Carrie Sheeler, Carolyn B. Smith   +7 more
doaj   +1 more source

FMR1 Iso-Seq intermediate files: FLNC and nFL reads

, 2016
<p>Over 40% of males and ~16% of female carriers of <em>FMR1</em> premutation allele (55-200 CGG repeats) are at risk for developing Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), an adult onset neurodegenerative disorder.
Tang, Hiu-Tung, Tseng, Elizabeth (5240491), Hickey, Luke (5524535), Tassone, Flora (5524544), Tang, Hiu-Tung (5524541), Tseng, Elizabeth, Rafik AlOlaby, Reem, Rafik AlOlaby, Reem (8261310), Tassone, Flora, Hickey, Luke   +9 more
core   +1 more source