Results 81 to 90 of about 14,262 (208)

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

A sound-driven cortical phase-locking change in the Fmr1 KO mouse requires Fmr1 deletion in a subpopulation of brainstem neurons

Neurobiology of Disease, 2022
Background: Sensory impairments commonly occur in patients with autism or intellectual disability. Fragile X syndrome (FXS) is one form of intellectual disability that is often comorbid with autism.
Andrew J. Holley, Aleya Shedd, Anna Boggs, Jonathan Lovelace, Craig Erickson, Christina Gross, Miranda Jankovic, Khaleel Razak, Kimberly Huber, Jay R. Gibson   +9 more
doaj  

Conservation of CGG region in FMR1 gene in mammals [PDF]

, 1994
Wout H. Deelen, Cathy Bakker, Dicky Halley, Ben A. Oostra   +3 more
openalex   +1 more source

Abstracts

Molecular Oncology, Volume 19, Issue S1, Page 1-895, June 2025.
Abstracts submitted to the ‘EACR 2025 Congress: Innovative Cancer Science’, from 16–19 June 2025 and accepted by the Congress Organising Committee are published in this Supplement of Molecular Oncology, an affiliated journal of the European Association for Cancer Research (EACR).
wiley   +1 more source

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

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

The effect of FMR1 CGG repeat interruptions on mutation frequency as measured by sperm typing. [PDF]

, 1997
Catherine B. Kunst, Esther P. Leeflang, Jane Iber, Norman Arnheim, Stephen T. Warren   +4 more
openalex   +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

Tissue-specific expression of a FMR1/β-galactosidase fusion gene in transgenic mice [PDF]

, 1995
Martin Hergersberg, Koichi Matsuo, Max Gassmann, Walter Schaffner, Bernhard Lüscher, Thomas Rülicke, Adriano Aguzzi   +6 more
openalex   +1 more source

Functional characterization of the several splice variants of Fmr1 [PDF]

Research Ideas and Outcomes, 2016
Fmr1 has been known to be a crucial contributor in neurodevelopment. Events such as alternative splicing in its coding region and the use of different trancription start and end sites in its non-coding regions result in the production of a range of mRNA transcripts.
openaire   +3 more sources