Results 51 to 60 of about 19,944 (229)

Relative expression of FMR1 gene.

, 2018
FMR1 RNA expression using different set of primers in granulosa cells from women with normal alleles of FMR1. Different characters indicate significant statistical difference between columns.
Norbert Gleicher (235028), David H. Barad (235040), Emanuela Lazzaroni-Tealdi (597681), Yan-Guang Wu (361812), Lin Zhang (8926), Qi Wang (22418), Sarah K. Darmon (2736229), David F. Albertini (832880), Vitaly A. Kushnir (597678)   +8 more
core   +1 more source

Deficient Sleep in Mouse Models of Fragile X Syndrome

Frontiers in Molecular Neuroscience, 2017
In patients with fragile X syndrome (FXS), sleep problems are commonly observed but are not well characterized. In animal models of FXS (dfmr1 and Fmr1 knockout (KO)/Fxr2 heterozygote) circadian rhythmicity is affected, but sleep per se has not been ...
R. Michelle Saré, Lee Harkless, Merlin Levine, Anita Torossian, Carrie A. Sheeler, Carolyn B. Smith   +5 more
doaj   +1 more source

FMR1 Iso-Seq: final files

, 2017
<p>seng, E., Tang, H.-T., AlOlaby, R. R., Hickey, L. & Tassone, F. Altered expression of the FMR1 splicing variants landscape in premutation carriers. <em>BBA - Gene Regulatory Mechanisms</em> <strong>1860,</strong> 1117&
Tang, Hiu-Tung, Tseng, Elizabeth (5240491), Tassone, Flora (5524544), Hickey, Luke (5524535), AlOlaby, Reem Rafik, Tang, Hiu-Tung (5524541), AlOlaby, Reem Rafik (5524538), Tseng, Elizabeth, Tassone, Flora, Hickey, Luke   +9 more
core   +1 more source

Drug Repurposing for Treating NCOR‐Related Intellectual Disability

Advanced Science, EarlyView.
An autism‐associated NCOR1 heterozygous mutation upregulates NRGs and activates NRG backward signaling in hypothalamic GABAergic neurons in mouse models, leading to Gabra2 downregulation and cognitive deficits, which can be therapeutically targeted by repurposing FDA‐approved drugs.
Yan Kong, Wenjun Zhou, Yuxiang Sun, Zihan Huang, Zhiyue Liu, Udhaya Kumar. S, Chenyan Li, Yi Lu, Chengchuang Song, Veronica C. Ciliberto, Makenna Mack, Lana E. Kim, Zhaoyong Hu, Fang Luo, Aihua Cao, Zheng Sun   +15 more
wiley   +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   +1 more source

Arhgef1 Deletion Disrupts Early Cortical Neurogenesis via PAK1 Overactivation and Causes Motor Dysfunction in Adulthood

Advanced Science, EarlyView.
ARHGEF1 plays a pivotal role in both embryonic cortical neurogenesis and adult motor function. During early development, it governs genesis of deep‐layer cortical neurons by negatively regulating RAC1/CDC42‐PAK1‐Cofilin signaling. In adulthood, ARHGEF1 is important for the maintenance of neuronal morphology and activity in the motor cortex, ensuring ...
Liuren Li, Xuanyue Ma, Zhenyu Ding, Bang Sun, Linglin Liu, Hei Matthew Yip, Wei Wang, Tianying Wu, Yuan Guo, Yinghui Peng, Shiqing Zhang, Jacque Pak Kan Ip, Li Zhang, Keshen Li, Lei Shi   +14 more
wiley   +1 more source

Histone deacetylases suppress CGG repeat-induced neurodegeneration via transcriptional silencing in models of fragile X tremor ataxia syndrome.

PLoS Genetics, 2010
Fragile X Tremor Ataxia Syndrome (FXTAS) is a common inherited neurodegenerative disorder caused by expansion of a CGG trinucleotide repeat in the 5'UTR of the fragile X syndrome (FXS) gene, FMR1.
Peter K Todd, Seok Yoon Oh, Amy Krans, Udai B Pandey, Nicholas A Di Prospero, Kyung-Tai Min, J Paul Taylor, Henry L Paulson   +7 more
doaj   +1 more source

Prevalence of cytogenetic abnormalities and FMR1 gene premutation in a Portuguese population with premature ovarian insufficiency

Acta Médica Portuguesa, 2021
Introduction: Chromosome abnormalities contribute to about 10% of cases of premature ovarian insufficiency. Most are associated with X chromosome. Fragile mental retardation 1 (FMR1) gene premutation has an estimated prevalence of 1% - 7% in sporadic ...
Ana Raquel Neves, Ana Sofia Pais, Susana Isabel Ferreira, Vera Ramos, Maria João Carvalho, Alexandra Estevinho, Eunice Matoso, Fernanda Geraldes, Isabel Marques Carreira, Fernanda Águas   +9 more
doaj   +1 more source

Genômica do X-frágil: elementos de regulação do Gene FMR1 [PDF]

, 2008
Tese (doutorado) - Universidade Federal de Santa Catarina, Centro Tecnológico. Programa de Pós-Graduação em Engenharia Química, Florianópolis, 2008.A Síndrome do X Frágil (SXF) é a forma de retardo mental herdado mais comum encontrada, afetando um entre ...
Serpa, Gisele
core  

Modeling fragile X syndrome in the Fmr1 knockout mouse [PDF]

, 2014
Fragile X Syndrome (FXS) is a commonly inherited form of intellectual disability and one of the leading genetic causes for autism spectrum disorder.
Crawley, Jacqueline N, Silverman, Jill L, Kazdoba, Tatiana M, Leach, Prescott T   +3 more
core   +1 more source