Results 1 to 10 of about 19,944 (229)

Advancing Standardization in Fragile X Syndrome Molecular Diagnosis: A Dual-Structured and Scoping Review. [PDF]

Children (Basel)
Sallum BT, de Figueiredo MGC, Haddad MEO, Santos WS, Cordeiro ML.   +4 more
europepmc   +1 more source

Blarcamesine improves EEG biomarkers of cortical dysfunction in a mouse model of fragile X syndrome. [PDF]

Front Pharmacol
Jonak CR, Assad SA, Binder DK, Tran J, Missling CU, Kaufmann WE.   +5 more
europepmc   +1 more source

ERK-dependent hyperexcitability of BLA neurons projecting to dCA3 underlies social dysfunction in a male mouse model of fragile X syndrome. [PDF]

EBioMedicine
Wang S, Wu X, Dong S, Zheng L, Pan L, Zhan L, Xiao H, Yang L, Wang X, Ma H, Xu H, Pan B, Wang L, Wang H.   +13 more
europepmc   +1 more source

Clinical Application of Long-Read Sequencing for FMR1 Gene Mutation Detection in Populations From Shandong, China. [PDF]

Mol Genet Genomic Med
Li Y, Hou F, Shan S, Peng Y, Jin H.
europepmc   +1 more source

HK2 drives synaptic dysfunction in fragile X syndrome via epigenetic regulation of H3K18 lactylation. [PDF]

Front Pharmacol
Luan Y, Zhang H, Ma N, Zhang Y, Xu Z, Zhang W, Zhang X, Liu Y.   +7 more
europepmc   +1 more source

SMCHD1 Is Dispensable for Repeat-Induced FMR1 Hypermethylation in Fragile X Pluripotent Stem Cells. [PDF]

Int J Mol Sci
Aviel U, Kababw-Florentin A, Abu Diab M, Drier Y, Epsztejn-Litman S, Eiges R.   +5 more
europepmc   +1 more source

Fragile X-associated tremor/ataxia syndrome with autoimmune hepatitis requiring liver transplantation. [PDF]

BMJ Case Rep
Viteri V, Parada MF, Santos ER, Biag HMB, Schneider A, Villarreal J, Trotter JF, Hagerman RJ.   +7 more
europepmc   +1 more source

FMRP promotes gastric cancer progression via m⁶A-dependent stabilization of DVL2 and activation of the Wnt/PCP-JNK pathway. [PDF]

J Transl Med
Hou X, Gao J, Xing X, Liu Q, Yi M, Liu C, Chu Q, Zou M, Hu M, Luo Y.   +9 more
europepmc   +1 more source

<i>Fmr1</i> mutation is associated with gut microbiome structure and diversity as well as intestinal barrier integrity and function in a sex- and genotype-dependent manner. [PDF]

mSphere
Alam S, Shaughnessy CA, Lucas EA, Olawale F, Fathepure BZ, McCullagh EA.   +5 more
europepmc   +1 more source

Exclusion of RNA-binding domains from G-quadruplex condensates by G-quadruplex ligands. [PDF]

RSC Chem Biol
Hashimoto Y, Suzuki R, Aya M, Takamiya N, Tsuruta M, Torii T, Goto T, Kawauchi K, Miyoshi D.   +8 more
europepmc   +1 more source