Non-ataxic manifestations of Spinocerebellar ataxia-2, their determinants and predictors
Sign Up to like & getrecommendations! Published in 2018 at "Journal of the Neurological Sciences"
DOI: 10.1016/j.jns.2018.08.024
Abstract: INTRODUCTION To evaluate the non-ataxic clinical manifestations in genetically proven Spinocerebellar ataxia 2 (SCA2) and identify their determinants and predictors. METHODS Seventy-three subjects with genetically proven SCA2 were evaluated clinically for the common non-ataxic manifestations.… read more here.
Keywords: determinants predictors; cag repeat; repeat length; non ataxic ... 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
Repeat length variations in polyglutamine disease-associated genes affect body mass index
Sign Up to like & getrecommendations! Published in 2018 at "International Journal of Obesity"
DOI: 10.1038/s41366-018-0161-7
Abstract: BackgroundThe worldwide prevalence of obesity, a major risk factor for numerous debilitating chronic disorders, is increasing rapidly. Although a substantial amount of the variation in body mass index (BMI) is estimated to be heritable, the… read more here.
Keywords: repeat; polyglutamine disease; repeat length; associated genes ... See more keywords
Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat
Sign Up to like & getrecommendations! Published in 2022 at "Acta Neuropathologica Communications"
DOI: 10.1101/2022.01.27.478096
Abstract: X-linked dystonia-parkinsonism (XDP) is a progressive adult-onset neurodegenerative disorder caused by insertion of a SINE-VNTR-Alu (SVA) retrotransposon in the TAF1 gene. The SVA retrotransposon contains a CCCTCT hexameric repeat tract of variable length, whose length… read more here.
Keywords: ccctct repeat; repeat length; instability; repeat ... See more keywords
Huntingtin HTT1a is generated in a CAG repeat-length-dependent manner in human tissues
Sign Up to like & getrecommendations! Published in 2024 at "Molecular Medicine"
DOI: 10.1186/s10020-024-00801-2
Abstract: The disease-causing mutation in Huntington disease (HD) is a CAG trinucleotide expansion in the huntingtin (HTT) gene. The mutated CAG tract results in the production of a small RNA, HTT1a, coding for only exon 1… read more here.
Keywords: expression; repeat length; htt1a; cag repeat ... 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
Size Matters: The CAG Repeat Length of the Androgen Receptor Gene, Testosterone, and Male Adolescent Depression Severity
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Psychiatry"
DOI: 10.3389/fpsyt.2021.732759
Abstract: There is a distinct increase in the prevalence of depression with the onset of puberty. The role of peripubertal testosterone levels in boys in this context is insufficiently understood and may be modulated by a… read more here.
Keywords: depression; cag repeat; testosterone; severity ... See more keywords