The association of FMR1 gene (CGG)n variation with idiopathic female infertility [PDF]
Archives of Medical Science, 2019 Introduction The FMR1 gene plays an important role in brain development and in the regulation of ovarian function. The FMR1 gene contains CGG repeat variation and the expansion of the repeats is associated with various phenotypes e.g. fragile X syndrome,
Adele Grasmane +4 more
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Role of CTCF protein in regulating FMR1 locus transcription. [PDF]
PLoS Genetics, 2013 Fragile X syndrome (FXS), the leading cause of inherited intellectual disability, is caused by epigenetic silencing of the FMR1 gene, through expansion and methylation of a CGG triplet repeat (methylated full mutation). An antisense transcript (FMR1-AS1),
Stella Lanni +9 more
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Generation and characterization of FMR1 knockout zebrafish. [PDF]
PLoS ONE, 2009 Fragile X syndrome (FXS) is one of the most common known causes of inherited mental retardation. The gene mutated in FXS is named FMR1, and is well conserved from human to Drosophila.
Marjo J den Broeder +5 more
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Generation of a FMR1 homozygous knockout human embryonic stem cell line (WAe009-A-16) by CRISPR/Cas9 editing [PDF]
Stem Cell Research, 2019 Mutations in FMR1 gene is the cause of Fragile X Syndrome (FXS) leading inherited cause of intellectual disability and autism spectrum disorders. FMR1 gene encodes Fragile X Mental Retardation Protein (FMRP) which is a RNA binding protein and play ...
Subhajit Giri +3 more
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Utilizing FMR1 gene mutations as predictors of treatment success in human in vitro fertilization.
PLoS ONE, 2014 ContextMutations of the fragile X mental retardation 1 (FMR1) gene are associated with distinct ovarian aging patterns.ObjectiveTo confirm in human in vitro fertilization (IVF) that FMR1 affects outcomes, and to determine whether this reflects ...
Vitaly A Kushnir +9 more
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The mGluR5 antagonist AFQ056 does not affect methylation and transcription of the mutant
BMC Medical Genetics, 2012 Background Fragile X syndrome (FXS), the leading cause of inherited mental retardation, is due to expansion and methylation of a CGG sequence in the FMR1 gene, which result in its silencing and consequent absence of FMRP protein. This absence causes loss
Tabolacci Elisabetta +4 more
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Altered GnRH neuron and ovarian innervation characterize reproductive dysfunction linked to the Fragile X messenger ribonucleoprotein (Fmr1) gene mutation. [PDF]
Front Endocrinol (Lausanne), 2023 INTRODUCTION: Mutations in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene cause Fragile X Syndrome, the most common monogenic cause of intellectual disability.
Villa PA +5 more
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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
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Molecular Characterisation and Assessment of Clinical Significance of Small Fragile X Alleles [PDF]
Journal of Analytical Research in Clinical Medicine, 2013 BACKGROUND: Fragile X syndrome is a genetic mental retardation syndrome caused by an unstable mutation in thefragile X mental retardation 1 gene (FMR1) on the X chromosome.
Mahmoud Shekari Khaniani +1 more
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陆军军医大学学报, 2022 Objective To investigate the effects of N6-methyladenosine (M6A) related genes on the prognosis and cell biological behaviors of colorectal cancer. Methods The long non-coding RNA (lncRNA) for colorectal cancer and the expression profile data of 21 M6A ...
LIU Ning +4 more
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