Results 71 to 80 of about 10,792 (169)
Autonomic Function in Fragile X Syndrome: A Systematic Review
Journal of Intellectual Disability Research, Volume 70, Issue 8, Page 773-787, August 2026.ABSTRACT Background Fragile X syndrome (FXS) is a monogenic X‐linked cause of intellectual disability and autism. Individuals with FXS often have high levels of anxiety and sometimes display challenging behaviours. Autonomic dysfunction has been suggested to be one physiological mechanism that may contribute to these.
Sydni Weissgold +4 more
wiley +1 more source
Frontiers in Cellular Neuroscience, 2017 The abnormal expansion of unstable simple sequence DNA repeats can cause human disease through a variety of mechanisms, including gene loss-of-function, toxic gain-of-function of the encoded protein and toxicity of the repeat-containing RNA transcript ...
Mário Gomes-Pereira +2 more
doaj +1 more source
Multilevel genomic constraints shape nuclear tRNA gene organization in plants
The Plant Journal, Volume 127, Issue 3, August 2026.SUMMARY Transfer RNAs (tRNAs) are essential components of the translation machinery. Their abundance and diversity shape decoding capacity as well as the efficiency and accuracy of protein synthesis. Because tRNA abundance is encoded in the genome through tDNA copy number, chromosomal organization, and cis‐regulatory sequences controlling transcription,
Guillaume Hummel +4 more
wiley +1 more source
The central role of DNA damage and repair in CAG repeat diseases
Disease Models & Mechanisms, 2018 Diseases such as Huntington's disease and certain spinocerebellar ataxias are caused by the expansion of genomic cytosine-adenine-guanine (CAG) trinucleotide repeats beyond a specific threshold.
Thomas H. Massey, Lesley Jones
doaj +1 more source
PLoS Computational Biology, 2015 Conformational polymorphism of DNA is a major causative factor behind several incurable trinucleotide repeat expansion disorders that arise from overexpansion of trinucleotide repeats located in coding/non-coding regions of specific genes.
Noorain Khan +2 more
doaj +1 more source
Molecular Therapy: Nucleic Acids, 2019 Huntington’s disease (HD) is a currently incurable and, ultimately, fatal neurodegenerative disorder caused by a CAG trinucleotide repeat expansion within exon 1 of the huntingtin (HTT) gene, which results in the production of a mutant protein that forms
Freja K. Ekman +5 more
doaj +1 more source
The TCF4 Trinucleotide Repeat Expansion of Fuchs' Endothelial Corneal Dystrophy: Implications for the Anterior Segment of the Eye. [PDF]
Invest Ophthalmol Vis Sci, 2023 Hu J +4 more
europepmc +1 more source
Suppression of trinucleotide repeat expansion in spermatogenic cells in Huntington's disease. [PDF]
J Assist Reprod Genet, 2022 Cho IK, Easley CA, Chan AWS.
europepmc +1 more source
Relationship of Body Mass Index With Fuchs Endothelial Corneal Dystrophy Severity and TCF4 CTG18.1 Trinucleotide Repeat Expansion. [PDF]
Cornea, 2021 Kinariwala BB +9 more
europepmc +1 more source
The Role of the Immune System in Triplet Repeat Expansion Diseases
Mediators of Inflammation, 2015 Trinucleotide repeat expansion disorders (TREDs) are a group of dominantly inherited neurological diseases caused by the expansion of unstable repeats in specific regions of the associated genes.
Marta Olejniczak +2 more
doaj +1 more source