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.
Sign Up to like & getrecommendations! Published in 2022 at "Gene"
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
Low and High-Normal FMR1 Triplet Cytosine, Guanine Guanine Repeats Affect Ovarian Reserve and Fertility in Women Who Underwent In Vitro Fertilization Treatment? Results from a Cross-Sectional Study
Sign Up to like & getrecommendations! Published in 2024 at "DNA and Cell Biology"
DOI: 10.1089/dna.2023.0395
Abstract: Dynamic mutations in the 5′ untranslated region of FMR1 are associated with infertility. Premutation alleles interfere with prenatal development and increase infertility risks. The number of CGG repeats that causes the highest decrease in ovarian… read more here.
Keywords: treatment; guanine; cgg; low normal ... 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
The association of CGG repeat length and AGG interruption patterns on FMR1 alleles with female infertility
Sign Up to like & getrecommendations! Published in 2025 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2025.1609471
Abstract: Background The aim of the present study was to investigate whether the CGG repeat length and AGG interruption patterns on the FMR1 gene affect female fecundity. Methods A total of 266 infertile patients and 276… read more here.
Keywords: repeat; infertility; cgg; cgg repeat ... 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