Results 21 to 30 of about 15,002 (209)
Rescue of Fragile X Syndrome Neurons by DNA Methylation Editing of the FMR1 Gene [PDF]
Cell, 2018 X Shawn Liu, Hao Wu, Xuebing Wu
exaly +2 more sources
miRNA expression and interaction with the 3′UTR of FMR1 in FRAXopathy pathogenesis
Non-coding RNA Research, 2021 FRAXopathies are caused by the expansion of the CGG repeat in the 5′UTR of the FMR1 gene, which encodes the protein responsible for the synthesis of FMRP.
Alexander A. Dolskiy +7 more
doaj +1 more source
Molecular Therapy: Methods & Clinical Development, 2022 Fragile X syndrome (FXS) is caused by the loss of the fragile X messenger ribonucleoprotein 1 (FMRP) encoded by the FMR1 gene. Gene therapy using adeno-associated virus (AAV) to restore FMRP expression is a promising therapeutic strategy. However, so far
Yiru Jiang +12 more
doaj +1 more source
Alternative splicing in the fragile X-gene FMR1
, 1993 : The FMR1 gene, associated with fragile X syndrome, has recently been cloned and the sequence of partial cDNA clones is known. We have determined additional cDNA sequences both at the 5' and 3' end.
Willems, Patrick J. +4 more
core +2 more sources
Bone Research, 2023 Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene mutations lead to fragile X syndrome, cognitive disorders, and, in some individuals, scoliosis and craniofacial abnormalities. Four-month-old (mo) male mice with deletion of the FMR1 gene exhibit a mild
Padmini Deosthale +14 more
doaj +1 more source
The Prognostic and Therapeutic Potential of Fragile X Mental Retardation 1 (FMR1) Gene Expression in Prostate Adenocarcinoma: Insights into Survival Outcomes and Oncogenic Pathway Modulation [PDF]
International Journal of Molecular SciencesSalem Baldi +2 more
exaly +1 more source
Defining the role of FMR1 gene in unexplained recurrent spontaneous abortion. [PDF]
J Assist Reprod Genet, 2019 Recurrent spontaneous abortion is a multifactorial disorder and till date, various factors have been attributed in its pathogenesis. Still, approximately 50% of RSA cases remain unexplained. Premutation (PM) expanded allele of fragile-X mental retardation 1 (FMR1) gene is known to contribute to ovarian dysfunction in 20% of the cases.
Dean DD, Agarwal S, Muthuswamy S.
europepmc +4 more sources
Precision Sensorimotor Control in Aging FMR1 Gene Premutation Carriers. [PDF]
Front Integr Neurosci, 2019 Individuals with premutation alleles of the FMR1 gene are at risk of developing fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative condition affecting sensorimotor function. Information on quantitative symptom traits associated with aging in premutation carriers is needed to clarify neurodegenerative processes contributing to ...
McKinney WS +6 more
europepmc +6 more sources
CRISPR to the Rescue: Advances in Gene Editing for the FMR1 Gene [PDF]
Brain Sciences, 2019 Gene-editing using Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) is promising as a potential therapeutic strategy for many genetic disorders. CRISPR-based therapies are already being assessed in clinical trials, and evaluation of this technology in Fragile X syndrome has been performed by a number of groups. The findings from these
Carolyn M. Yrigollen +1 more
openaire +3 more sources
The generation of a conditional Fmr1 knock out mouse model to study Fmrp function in vivo
Neurobiology of Disease, 2006 The FMR1 gene, mutated in Fragile X syndrome patients, has been modeled in mice with a neomycin cassette inserted in exon 5 of the mouse Fmr1 gene creating an Fmr1 knockout (Fmr1 KO) allele.
E.J. Mientjes +9 more
doaj +1 more source