Results 21 to 30 of about 10,792 (169)
A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy. [PDF]
PLoS ONE, 2012 Fuchs endothelial corneal dystrophy (FECD) is a common, familial disease of the corneal endothelium and is the leading indication for corneal transplantation.
Eric D Wieben +6 more
doaj +1 more source
Interrogating the “unsequenceable” genomic trinucleotide repeat disorders by long-read sequencing
Genome Medicine, 2017 Microsatellite expansion, such as trinucleotide repeat expansion (TRE), is known to cause a number of genetic diseases. Sanger sequencing and next-generation short-read sequencing are unable to interrogate TRE reliably.
Qian Liu +4 more
doaj +1 more source
Gene expression in the corneal endothelium of Fuchs endothelial corneal dystrophy patients with and without expansion of a trinucleotide repeat in TCF4. [PDF]
PLoS ONE, 2018 Fuchs Endothelial Corneal Dystrophy (FECD) is a late onset, autosomal dominant eye disease that can lead to loss of vision. Expansion of a CTG trinucleotide repeat in the third intron of the transcription factor 4 (TCF4) gene is highly associated with ...
Eric D Wieben +7 more
doaj +1 more source
The 26S proteasome drives trinucleotide repeat expansions [PDF]
Nucleic Acids Research, 2013 Trinucleotide repeat (TNR) expansion is the causative mutation for at least 17 inherited neurological diseases. An important question in the field is which proteins drive the expansion process. This study reports that the multi-functional protein Sem1 is a novel driver of TNR expansions in budding yeast. Mutants of SEM1 suppress up to 90% of expansions.
Concannon, C., Lahue, R. S.
openaire +2 more sources
Neurobiology of Disease, 1995 Genetic factors are of major aetiological importance in Bipolar Affective Disorder (BPAD type I and II). The exact mode of inheritance of BPAD is unknown, but the recent demonstration of anticipation suggests that dynamic mutations could be involved in ...
Kerstin Lindblad +12 more
doaj +1 more source
Repeat expansion scanning of the NOTCH2NLC gene in patients with multiple system atrophy
Annals of Clinical and Translational Neurology, 2020 Objective Trinucleotide GGC repeat expansion in the 5’UTR of the NOTCH2NLC gene has been recognized as the pathogenesis of neuronal intranuclear inclusion disease (NIID).
Pu Fang +11 more
doaj +1 more source
GFP-based fluorescence assay for CAG repeat instability in cultured human cells. [PDF]
PLoS ONE, 2014 Trinucleotide repeats can be highly unstable, mutating far more frequently than point mutations. Repeats typically mutate by addition or loss of units of the repeat.
Beatriz A Santillan +3 more
doaj +1 more source
Variation within the Huntington's disease gene influences normal brain structure. [PDF]
PLoS ONE, 2012 Genetics of the variability of normal and diseased brain structure largely remains to be elucidated. Expansions of certain trinucleotide repeats cause neurodegenerative disorders of which Huntington's disease constitutes the most common example. Here, we
Mark Mühlau +9 more
doaj +1 more source
Neurobiology of Disease, 2022 Dentatorubral–pallidoluysian atrophy (DRPLA) is a devastating genetic disease presenting myoclonus, epilepsy, ataxia, and dementia. DRPLA is caused by the expansion of a CAG repeat in the ATN1 gene.
Yuhei Hasuike +8 more
doaj +1 more source
Cell Reports, 2015 Fragile X syndrome (FXS) is the most common form of inherited intellectual disability, resulting from a CGG repeat expansion in the fragile X mental retardation 1 (FMR1) gene.
Chul-Yong Park +7 more
doaj +1 more source