Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat sequences
T Gall-Duncan, N Sato, RKC Yuen… - Genome …, 2022 - genome.cshlp.org
Expansions of gene-specific DNA tandem repeats (TRs), first described in 1991 as a
disease-causing mutation in humans, are now known to cause> 60 phenotypes, not just …
disease-causing mutation in humans, are now known to cause> 60 phenotypes, not just …
Molecular mechanisms in pentanucleotide repeat diseases
JR Loureiro, AF Castro, AS Figueiredo, I Silveira - Cells, 2022 - mdpi.com
The number of neurodegenerative diseases resulting from repeat expansion has increased
extraordinarily in recent years. In several of these pathologies, the repeat can be transcribed …
extraordinarily in recent years. In several of these pathologies, the repeat can be transcribed …
Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications
Short tandem repeats (STRs) are a class of repetitive elements, composed of tandem arrays
of 1–6 base pair sequence motifs, that comprise a substantial fraction of the human genome …
of 1–6 base pair sequence motifs, that comprise a substantial fraction of the human genome …
Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment
A pentanucleotide TTTCA repeat insertion into a polymorphic TTTTA repeat element in
SAMD12 causes benign adult familial myoclonic epilepsy. Although the precise …
SAMD12 causes benign adult familial myoclonic epilepsy. Although the precise …
A novel FAME1 repeat configuration in a European family identified using a combined genomics approach
T Maroilley, MH Tsai, R Mascarenhas, C Diao… - Epilepsia …, 2023 - Wiley Online Library
Familial adult myoclonic epilepsy (FAME) is an adult‐onset neurological disease
characterized by cortical tremor, myoclonus, and seizures due to a pentanucleotide repeat …
characterized by cortical tremor, myoclonus, and seizures due to a pentanucleotide repeat …
Uncovering essential tremor genetics: The promise of long-read sequencing
Long-read sequencing (LRS) technologies have been recently introduced to overcome
intrinsic limitations of widely-used next-generation sequencing (NGS) technologies, namely …
intrinsic limitations of widely-used next-generation sequencing (NGS) technologies, namely …
Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8
P Yeetong, ME Dembélé, M Pongpanich… - Movement …, 2024 - Wiley Online Library
Background Benign adult familial myoclonic epilepsy (BAFME) is an autosomal dominant
disorder characterized by cortical tremors and seizures. Six types of BAFME, all caused by …
disorder characterized by cortical tremors and seizures. Six types of BAFME, all caused by …
G-quadruplexes in repeat expansion disorders
Y Teng, M Zhu, Z Qiu - International Journal of Molecular Sciences, 2023 - mdpi.com
The repeat expansions are the main genetic cause of various neurodegeneration diseases.
More than ten kinds of repeat sequences with different lengths, locations, and structures …
More than ten kinds of repeat sequences with different lengths, locations, and structures …
Genetics of familial adult myoclonus epilepsy: from linkage studies to noncoding repeat expansions
MA Corbett, C Depienne, L Veneziano, KM Klein… - …, 2023 - Wiley Online Library
Familial adult myoclonus epilepsy (FAME) is a genetic epilepsy syndrome that for many
years has resisted understanding of its underlying molecular cause. This review covers the …
years has resisted understanding of its underlying molecular cause. This review covers the …
History of familial adult myoclonus epilepsy/benign adult familial myoclonic epilepsy around the world
SF Berkovic, P Striano, S Tsuji - Epilepsia, 2023 - Wiley Online Library
Familial adult myoclonus epilepsy/benign adult familial myoclonic epilepsy (FAME/BAFME)
has emerged as a specific and recognizable epilepsy syndrome with autosomal dominant …
has emerged as a specific and recognizable epilepsy syndrome with autosomal dominant …