Results 91 to 100 of about 18,012 (216)

Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype.

PLoS ONE, 2010
BackgroundFragile X syndrome (FXS) is caused by loss of function mutations in the FMR1 gene. Trinucleotide CGG-repeat expansions, resulting in FMR1 gene silencing, are the most common mutations observed at this locus.
Stephen C Collins, Brad Coffee, Paul J Benke, Elizabeth Berry-Kravis, Fred Gilbert, Ben Oostra, Dicky Halley, Michael E Zwick, David J Cutler, Stephen T Warren   +9 more
doaj   +1 more source

Az FMR1 gén molekuláris genetikai vizsgálata mentális retardációban és korai petefészek elégtelenség esetén

, 2013
Az FMR1 gén tripletexpanziójának vizsgálata ismeretlen eredetű mentális retardációban, ahol felmerül a fragilis X szindróma gyanúja, illetve korai petefészek elégtelenség esetén.gjBiológusMSc ...
Reményi-Puskár, Judit
core  

Serotonin 5‐HT7 receptor signaling in neuropsychiatric disorders

Bulletin of the Korean Chemical Society, Volume 47, Issue 6, Page 698-710, June 2026.
5‐HT7R recruits Gs, G12, and β‐arrestin signaling to regulate neuronal plasticity, circuit function, and kinase‐linked intracellular responses. This review summarizes how these pathway‐selective modules contribute to autism spectrum disorder, depression, and schizophrenia, highlighting 5‐HT7R as a pathway‐informed therapeutic target. Abstract Serotonin
Eunseo Park, Hyunah Choo
wiley   +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

Mouse models of fragile X-related disorders

Disease Models & Mechanisms, 2023
Rob Willemsen, R. Frank Kooy
doaj   +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

Neuronal Oscillation Dynamics Fmr1 KO2 mice

, 2023
In vitro and ex vivo studies have shown consistent indications of hyperexcitability in the Fmr1 KO mouse model of autism spectrum disorder. We recently introduced a method to quantify network-level functional E/I ratio (fEI) from the neuronal ...
Renate Kat, Martien Kas
core   +3 more sources

Resilience to audiogenic seizures is associated with p-ERK1/2 dephosphorylation in the subiculum of Fmr1 knockout mice

Frontiers in Cellular Neuroscience, 2013
Young, but not adult, Fmr1 knockout (KO) mice display audiogenic seizures (AGS) that can be prevented by inhibiting extracellular signal-regulated kinases 1/2 (ERK1/2) phosphorylation. In order to identify the cerebral regions involved in these phenomena,
Giulia eCuria, Fabio eGualtieri, Fabio eGualtieri, Regina eBartolomeo, Riccardo eVezzali, Giuseppe eBiagini   +5 more
doaj   +1 more source

Alternative splicing of the FMR1 gene in human tissues of fetal and adult

, 1999
To study the time- and tissue-specificity of alternative splicing of the FMR1 gene, we analyzed the alternative splicing pattern of the FMR1 gene in human tissues from adult and fetus using RT-PCR coupled with capillary electrophoresis. Seven alternative
Li, LY, Zhu, NN, Liu, EL, Shen, Y, Kan, D, Xu, Q, Fan, Y, Han, FT, Wu, GY, Lin, BC   +9 more
core  

BRCA1/2 mutations appear embryo-lethal unless rescued by low (CGG n<26) FMR1 sub-genotypes: explanation for the "BRCA paradox"?

PLoS ONE, 2012
BRCA1/2 mutations and recently described constitutional FMR1 genotypes have, independently, been associated with prematurely diminished ovarian reserve. Whether they interrelate in distribution, and whether observed effects of BRCA1/2 and FMR1 on ovaries
Andrea Weghofer, Muy-Kheng Tea, David H Barad, Ann Kim, Christian F Singer, Klaus Wagner, Norbert Gleicher   +6 more
doaj   +1 more source