Results 101 to 110 of about 15,002 (209)

Analysis of the FMR1 gene expression in the ovary

, 2011
Este estudo teve como objetivo geral a análise do gene FMR1 (Fragile X Mental Retardation gene 1) quanto a sua relação com a insuficiência ovariana primária (Fragile X-related Primary Ovarian Insufficiency, FXPOI).
Larissa Fontes, Fontes, Larissa
core   +1 more source

Pharmacologic MRI Brain Imaging Studies of Serotonin 5‐HT1 Receptor Agonists in Awake Mice

Pharmacology Research &Perspectives, Volume 14, Issue 3, June 2026.
ABSTRACT Serotonin (5‐hydroxytryptamine, 5‐HT) type‐1 G protein‐coupled receptors are expressed throughout the central nervous system. 5‐HT1AR activation is the putative mechanism of approved drugs for generalized anxiety disorder and major depressive disorder and is being studied in the treatment of autism and neurological disorders.
Brittany M. Brems, Erin E. Sullivan, Ryan P. McGlynn, Praveen Kulkarni, Craig F. Ferris, Raymond G. Booth   +5 more
wiley   +1 more source

FXR1‐Directed Alternative Splicing of MK5 Drives Hepatocellular Carcinoma Progression by Activating GSK3β Signaling

Cancer Science, Volume 117, Issue 6, Page 1580-1593, June 2026.
The RNA‐binding protein FXR1 promotes hepatocellular carcinoma (HCC) progression by driving alternative splicing of MK5 to generate an oncogenic isoform, MK5‐L, which activates the Wnt/β‐catenin pathway. Targeting FXR1 with an antisense oligonucleotide suppresses tumor growth in vivo, revealing a promising therapeutic strategy for HCC.
Yutong Li, Jin Xiang, Bin Cheng, Chenhao Li, Kai Wang, Ni Tang, Luyi Huang   +6 more
wiley   +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

Pharmacological Reactivation of the Silenced FMR1 Gene as a Targeted Therapeutic Approach for Fragile X Syndrome

Brain Sciences, 2019
More than ~200 CGG repeats in the 5′ untranslated region of the FMR1 gene results in transcriptional silencing and the absence of the FMR1 encoded protein, FMRP.
Daman Kumari, Inbal Gazy, Karen Usdin
doaj   +1 more source

Case report: genetic analysis of a novel frameshift mutation in FMR1 gene in a Chinese family. [PDF]

Front Genet, 2023
Jin C, Zhang X, Lei Q, Chen P, Hu H, Shen S, Liu J, Ye S.   +7 more
europepmc   +1 more source

Differential gene expression in Fmr1 or Mbnl1-depleted cells.

, 2023
(A) Schematic of experiment. Created with BioRender.com. (B) qPCR showing depletion of Fmr1 following Fmr1 or Mbnl1 knockdown using siRNA. All RT-qPCR determinations were made relative to hprt (relative expression) and were performed in triplicate.
Suna Jung (17550046), Geongoo Han (17550049), Sneha Shah (418933), Joel D. Richter (9510890)   +3 more
core   +1 more source

A Transcriptomic Dataset of Embryonic Murine Telencephalon of Fmr1-Deficient Mice

Scientific Data
Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by mutations in the fragile X messenger ribonucleoprotein 1 (FMR1) gene. FXS patients exhibit autistic behaviors and abnormal brain structures, with notable sex differences.
Sara Ebrahimiazar, Takako Kikkawa, Yohei Minakuchi, Satoshi Miyashita, Shyu Manabe, Mikio Hoshino, Atsushi Toyoda, Noriko Osumi   +7 more
doaj   +1 more source

Germinal mosaicism for a deletion of the FMR1 gene leading to fragile X syndrome

, 2016
Aberrant CGG trinucleotide amplification within the FMR1 gene, which spans approximately 38 Kb of genomic DNA is almost always what leads to fragile X syndrome (FXS). However, deletions of part or the entire FMR1 gene can also cause FXS.
Neri, Giovanni, Tassone, Francesco, Murdolo, Marina, Zollino, Marcella   +3 more
core   +1 more source

Health problems in females carriers of premutation in the FMR1 gene

Psychiatria Polska, 2017
Nosicielstwo premutacji w genie FMR1 dotyczy 1 na 130-260 kobiet oraz 1 na 250-810 mężczyzn. Obecnie wiadomo, że nosiciele premutacji są w grupie ryzyka rozwinięcia spektrum zaburzeń neurologicznych, psychiatrycznych oraz immunologicznych w wieku dorosłym.
openaire   +2 more sources