Small Molecule Screening Discovers Compounds that Reduce FMRpolyG Protein Aggregates and Splicing Defect Toxicity in Fragile X-Associated Tremor/Ataxia Syndrome.
Sign Up to like & getrecommendations! Published in 2022 at "Molecular neurobiology"
DOI: 10.1007/s12035-021-02697-z
Abstract: Expansion of CGG trinucleotide repeats in 5' untranslated region of the FMR1 gene is the causative mutation of neurological diseases such as fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), and ovarian disorder such… read more here.
Keywords: associated tremor; cgg; tremor ataxia; ataxia syndrome ... See more keywords
Usefulness of fragile X checklist and CGG distribution in specialized institutions in Kinshasa, DR Congo
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Community Genetics"
DOI: 10.1007/s12687-018-0374-4
Abstract: Screening for fragile X syndrome (FXS) is essential in children with developmental delay or intellectual disability (ID). In addition, using clinical screening checklists remains of high interest in resource-limited settings. We aimed to gain insight… read more here.
Keywords: specialized institutions; kinshasa congo; cgg; institutions kinshasa ... See more keywords
Elucidation of the aggregation mechanism of bentonite with cationic guar gum as flocculant and application to filtration
Sign Up to like & getrecommendations! Published in 2020 at "Colloids and Surfaces A: Physicochemical and Engineering Aspects"
DOI: 10.1016/j.colsurfa.2020.124660
Abstract: Abstract Cationized guar gum (CGG) was synthesized by imparting a positive charge to the natural polymer guar gum (GG) and was used as a flocculant for bentonite suspensions. The effect of CGG on bentonite aggregation… read more here.
Keywords: guar gum; cgg; aggregation; bentonite ... See more keywords
High normal sized CGG repeat on the FMR1 gene reduces live birth rates after in vitro fertilization in Han Chinese.
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DOI: 10.1016/j.gene.2022.146204
Abstract: Substantial evidence now suggests an association between the FMR1 genotype and female fertility. The aim of this study was to determine whether a high normal FMR1 allele (35-54 repeats) affects in vitro fertilization (IVF) outcomes… read more here.
Keywords: normal sized; cgg; rate; high normal ... See more keywords
Does theFMR1 gene affect IVF success?
Sign Up to like & getrecommendations! Published in 2019 at "Reproductive biomedicine online"
DOI: 10.1016/j.rbmo.2018.11.009
Abstract: FMR1 CGG trinucleotide repeat expansions are associated with Fragile X syndrome (full mutations) and primary ovarian insufficiency (premutation range); the effect of FMR1 on the success of fertility treatment is unclear. The effect of FMR1… read more here.
Keywords: repeat; success; cgg; ivf ... See more keywords
Comprehensive Analysis of Fragile X Syndrome: Full Characterization of the FMR1 Locus by Long-Read Sequencing.
Sign Up to like & getrecommendations! Published in 2022 at "Clinical chemistry"
DOI: 10.1093/clinchem/hvac154
Abstract: BACKGROUND Fragile X syndrome (FXS) is the most frequent cause of inherited X-linked intellectual disability. Conventional FXS genetic testing methods mainly focus on FMR1 CGG expansions and fail to identify AGG interruptions, rare intragenic variants,… read more here.
Keywords: long read; cgg; read sequencing; fragile syndrome ... See more keywords
Screening for FMR1 CGG Repeat Expansion in Thai Patients with Autism Spectrum Disorder
Sign Up to like & getrecommendations! Published in 2021 at "BioMed Research International"
DOI: 10.1155/2021/4359308
Abstract: Autism spectrum disorder (ASD) is a complex disorder with a heterogeneous etiology. Fragile X syndrome (FXS) is recognized as the most common single gene mutation associated with ASD. FXS patients show some autistic behaviors and… read more here.
Keywords: cgg repeat; cgg; disorder; thai patients ... See more keywords
Prenatal Diagnosis of Fragile X: Can a Full Mutation Allele in the FMR1 Gene Contract to a Normal Size?
Sign Up to like & getrecommendations! Published in 2017 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2017.00158
Abstract: Here we describe a case of a prenatal diagnosis of a male fetus that inherited the unstable allele from his full mutation mosaic mother (29, 160, >200 CGG repeats) reduced to a normal size range… read more here.
Keywords: diagnosis; prenatal diagnosis; cgg; size ... See more keywords
Curcumin Regulates the r(CGG)exp RNA Hairpin Structure and Ameliorate Defects in Fragile X-Associated Tremor Ataxia Syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Neuroscience"
DOI: 10.3389/fnins.2020.00295
Abstract: Fragile X-associated tremor ataxia syndrome is an untreatable neurological and neuromuscular disorder caused by unstable expansion of 55–200 CGG nucleotide repeats in 5′ UTR of Fragile X intellectual disability 1 (FMR1) gene. The expansion of… read more here.
Keywords: fragile associated; tremor ataxia; associated tremor; rna ... See more keywords
Human DNA Helicase B as a Candidate for Unwinding Secondary CGG Repeat Structures at the Fragile X Mental Retardation Gene
Sign Up to like & getrecommendations! Published in 2018 at "Frontiers in Molecular Neuroscience"
DOI: 10.3389/fnmol.2018.00138
Abstract: The fragile X syndrome (FXS) is caused by a CGG repeat expansion at the fragile X mental retardation (FMR1) gene. FMR1 alleles with more than 200 CGG repeats bear chromosomal fragility when cells experience folate… read more here.
Keywords: dna; repeat; cgg; gene ... See more keywords