Results 91 to 100 of about 2,751,167 (169)

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

Absence of BRCA/FMR1 correlations in women with ovarian cancers.

PLoS ONE, 2014
Previously reported findings in Austrian BRCA1/2 mutation carriers suggested a possible dependency of embryos with BRCA1/2 mutations on so-called low alleles of the fragile X mental retardation 1 (FMR1) gene, characterized by less than 26 CGG repeats ...
Norbert Gleicher, Jessica N McAlpine, C Blake Gilks, Vitaly A Kushnir, Ho-Joon Lee, Yan-Guang Wu, Emanuela Lazzaroni-Tealdi, David H Barad   +7 more
doaj   +1 more source

Association between mutations in the FMR1 gene and ovarian dysfunction in Brazilian patients. [PDF]

JBRA Assist Reprod, 2022
Ramos C, Ocampos M, Barbato IT, Niehues VMS, Bicalho MDG, Nisihara R.   +5 more
europepmc   +1 more source

Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report

BMC Medical Genetics, 2007
Background The association between premature ovarian failure (POF) and the FMR1 repeat number (41> CGGn< 200) has been widely investigated. Current findings suggest that the risk estimation for POF can be calculated in the offspring of women with pre ...
D'Urso Michele, Chiurazzi Pietro, Laperuta Carmela, Miano Maria, Ursini Matilde   +4 more
doaj   +1 more source

Gene expression analysis of Fmr1-KO mouse caudate putamen reveals new preclinical biomarkers for fragile X syndrome

Frontiers in Neuroscience
BackgroundFragile X syndrome is a monogenic cause of autism spectrum disorder. Fmr1-KO mice are a well-known model for the disease, and the model’s behavioral phenotype has been well-characterized. Unfortunately, translational molecular tissue biomarkers
Shirin Sharghi, Shirin Sharghi, Stefanie Flunkert, Magdalena Daurer, Livia Breznik, Boris Philippe Chagnaud, Manuela Prokesch   +6 more
doaj   +1 more source

PGT-M for Premature Ovarian Failure Related to CGG Repeat Expansion of the FMR1 Gene. [PDF]

Genes (Basel), 2023
Persico T, Tranquillo ML, Seracchioli R, Zuccarello D, Sorrentino U.   +4 more
europepmc   +1 more source

Fragile X mental retardation 1 gene FMR1 promotes proliferation, migration, and invasion of gastric cancer cells via c-MYC

Journal of Translational Medicine
Background Gastric cancer is a highly aggressive malignancy with poor prognosis and low survival rates. The Fragile X Mental Retardation 1 (FMR1) gene has been implicated in the development and progression of various tumors, but its role in gastric ...
Yiqian Han, Chenxi Mao, Kangjie Zhou, Mingtong Liang, Luming Zhao, Yidong Hong, Jingzhou Zhang, Nan Hu, Fenglei Wu   +8 more
doaj   +1 more source

Molecular mechanism of FMR1 gene silencing in fragile X syndrome

, 2007
TypescriptThesis (PhD) -- University of Melbourne, Faculty of Medicine, Dentistry and Health Sciences 2007Includes bibliographical references (pages 260-288)Fragile X syndrome is an X-linked dominant disorder and is the most common cause of inherited ...
Chow, Maggie Zi-Ying.
core   +1 more source

Single-Nucleotide Mutations in Reveal Novel Functions and Regulatory Mechanisms of the Fragile X Syndrome Protein FMRP

Journal of Experimental Neuroscience, 2015
Fragile X syndrome is a monogenic disorder and a common cause of intellectual disability. Despite nearly 25 years of research on FMR1, the gene underlying the syndrome, very few pathological mutations other than the typical CGG-repeat expansion have been
Joshua A. Suhl, Stephen T. Warren
doaj   +1 more source

Fragile X Syndrome in a Female With Homozygous Full-Mutation Alleles of the FMR1 Gene. [PDF]

Cureus, 2021
Vafaeie F, Alerasool M, Kaseb Mojaver N, Mojarrad M.   +3 more
europepmc   +1 more source