Results 11 to 20 of about 82,738 (226)

A transgenic cell line with inducible transcription for studying (CGG)n repeat expansion mechanisms

Вавиловский журнал генетики и селекции, 2021
There are more than 30 inherited human disorders connected with repeat expansion (myotonic dystrophy type I, Huntington’s disease, Fragile X syndrome).
I. V. Grishchenko, A. A. Tulupov, Y. M. Rymareva, E. D. Petrovskiy, A. A. Savelov, A. M. Korostyshevskaya, Y. V. Maksimova, A. R. Shorina, E. M. Shitik, D. V. Yudkin   +9 more
doaj   +1 more source

Triplet-primed PCR and Melting Curve Analysis for Rapid Molecular Screening of Spinocerebellar Ataxia Types 1, 2, and 3

Bio-Protocol, 2023
There are more than 40 types of spinocerebellar ataxia (SCA), most of which are caused by abnormal expansion of short tandem repeats at various gene loci.
Mulias Lian, Mingjue Zhao, Gui- Phang, Indhu- Rajan-Babu, Samuel Chong   +4 more
doaj   +1 more source

The Fecal Position: Tracking Progressive DNA Repeat Expansion via Stool DNA Extraction [PDF]

, 2022
Friedreich Ataxia is a progressive DNA repeat expansion disease. Examining DNA repeat expansion in mouse models require sacrificing the mouse and taking samples of organs.
Conrad, Margaret, Ulloa, Hayley, Grabczyk, Ed   +2 more
core   +1 more source

A probable cis-acting genetic modifier of Huntington disease frequent in individuals with African ancestry

HGG Advances, 2022
Summary: Huntington disease (HD)is a dominantly inherited neurodegenerative disorder caused by the expansion of a polyglutamine encoding CAG repeat in the huntingtin gene. Recently, it has been established that disease severity in HD is best predicted by
Jessica Dawson, Fiona K. Baine-Savanhu, Marc Ciosi, Alastair Maxwell, Darren G. Monckton, Amanda Krause   +5 more
doaj   +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

Synthesis and cloning of long repeat sequences using single-stranded circular DNA

Frontiers in Bioengineering and Biotechnology, 2023
Non-coding repeat expansion causes several neurodegenerative diseases, such as fragile X syndrome, amyotrophic lateral sclerosis/frontotemporal dementia, and spinocerebellar ataxia (SCA31).
Afsana Bhuiyan, Shuichi Asakawa
doaj   +1 more source

Polyglutamine Expansion in Huntingtin and Mechanism of DNA Damage Repair Defects in Huntington’s Disease

Frontiers in Cellular Neuroscience, 2022
Emerging evidence suggests that DNA repair deficiency and genome instability may be the impending signs of many neurological diseases. Genome-wide association (GWAS) studies have established a strong correlation between genes that play a role in DNA ...
Subrata Pradhan, Rui Gao, Keegan Bush, Nan Zhang, Yogesh P. Wairkar, Yogesh P. Wairkar, Partha S. Sarkar, Partha S. Sarkar   +7 more
doaj   +1 more source

Mechanisms of intron gain and loss in Cryptococcus [PDF]

, 2008
Background: Genome comparisons across deep phylogenetic divergences have revealed that spliceosomal intron gain and loss are common evolutionary events.
Sharpton, Thomas J, Neafsey, Daniel E., Galagan, James E., Sharpton, Thomas J., Taylor, John W., Daniel E Neafsey, Thomas J Sharpton, James E Galagan, Taylor, John W, Neafsey, Daniel, John W Taylor   +10 more
core   +1 more source

A Single Common Assay for Robust and Rapid Fragile X Mental Retardation Syndrome Screening From Dried Blood Spots

Frontiers in Genetics, 2018
Background:FMR1 CGG trinucleotide repeat hyper-expansions are observed in 99% of individuals with fragile X mental retardation syndrome (FXS). We evaluated the reliability of a rapid single-step gender-neutral molecular screen for FXS when performed on ...
Vivienne J. Tan, Mulias Lian, Sultana M.H. Faradz, Tri I. Winarni, Samuel S. Chong, Samuel S. Chong, Samuel S. Chong   +6 more
doaj   +1 more source

A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes

EBioMedicine, 2019
Background: Huntington disease (HD) is caused by an unstable CAG/CAA repeat expansion encoding a toxic polyglutamine tract. Here, we tested the hypotheses that HD outcomes are impacted by somatic expansion of, and polymorphisms within, the HTT CAG/CAA ...
Marc Ciosi, Alastair Maxwell, Sarah A. Cumming, Davina J. Hensman Moss, Asma M. Alshammari, Michael D. Flower, Alexandra Durr, Blair R. Leavitt, Raymund A.C. Roos, Peter Holmans, Lesley Jones, Douglas R. Langbehn, Seung Kwak, Sarah J. Tabrizi, Darren G. Monckton   +14 more
doaj   +1 more source