Results 21 to 30 of about 10,200 (202)

Replication and Expansion of Trinucleotide Repeats in Yeast [PDF]

Molecular and Cellular Biology, 2003
The mechanisms of trinucleotide repeat expansions, underlying more than a dozen hereditary neurological disorders, are yet to be understood. Here we looked at the replication of (CGG)(n) x (CCG)(n) and (CAG)(n) x (CTG)(n) repeats and their propensity to expand in Saccharomyces cerevisiae.
Richard Pelletier, Maria M. Krasilnikova, George M. Samadashwily, Robert S. Lahue, Sergei M. Mirkin   +4 more
openalex   +5 more sources

Trinucleotide repeat expansions catalyzed by human cell-free extracts [PDF]

Cell Research, 2013
Trinucleotide repeat expansions cause 17 heritable human neurological disorders. In some diseases, somatic expansions occur in non-proliferating tissues such as brain where DNA replication is limited. This finding stimulated significant interest in replication-independent expansion mechanisms.
Jennifer R. Stevens, E E Lahue, Guo‐Min Li, Robert S. Lahue   +3 more
openalex   +5 more sources

Effect of Trinucleotide Repeat Expansion on the Expression of TCF4 mRNA in Fuchs' Endothelial Corneal Dystrophy. [PDF]

Invest Ophthalmol Vis Sci, 2019
Okumura N, Hayashi R, Nakano M, Yoshii K, Tashiro K, Sato T, Blake DJ, Aleff R, Butz M, Highsmith EW, Wieben ED, Fautsch MP, Baratz KH, Komori Y, Nakahara M, Tourtas T, Schlötzer-Schrehardt U, Kruse F, Koizumi N.   +18 more
europepmc   +3 more sources

Trinucleotide repeat expansion in the transcription factor 4 (TCF4) gene in Thai patients with Fuchs endothelial corneal dystrophy. [PDF]

Eye (Lond), 2020
Okumura N, Puangsricharern V, Jindasak R, Koizumi N, Komori Y, Ryousuke H, Nakahara M, Nakano M, Adachi H, Tashiro K, Yoshii K, Chantaren P, Ittiwut R, Shotelersuk V, Suphapeetiporn K.   +14 more
europepmc   +3 more sources

Crosstalk between MSH2-MSH3 and polβ promotes trinucleotide repeat expansion during base excision repair. [PDF]

Nat Commun, 2016
Lai Y, Budworth H, Beaver JM, Chan NL, Zhang Z, McMurray CT, Liu Y.   +6 more
europepmc   +2 more sources

Mismatch Repair Blocks Expansions of Interrupted Trinucleotide Repeats in Yeast [PDF]

Molecular Cell, 2000
Disease-causing expansions of trinucleotide repeats (TNRs) can occur very frequently. In contrast, expansions are rare if the TNR is interrupted (imperfect). The molecular mechanism stabilizing interrupted alleles and thereby preventing disease has been elusive.
Michael Rolfsmeier, Michael J. Dixon, Robert S. Lahue   +2 more
openalex   +5 more sources

Chronic Exposure to Cadmium and Antioxidants Does Not Affect the Dynamics of Expanded CAG•CTG Trinucleotide Repeats in a Mouse Cell Culture System of Unstable DNA

Frontiers in Cellular Neuroscience, 2021
More than 30 human disorders are caused by the expansion of simple sequence DNA repeats, among which triplet repeats remain the most frequent. Most trinucleotide repeat expansion disorders affect primarily the nervous system, through mechanisms of ...
Mário Gomes-Pereira, Darren G. Monckton
doaj   +1 more source

Validation of methylation-specific polymerase chain reaction method and evaluation of FMR1 gene pre-mutations in premature ovarian insufficiency [PDF]

مجله پزشکی دانشگاه علوم پزشکی تبریز, 2022
Background. Fragile X-associated premature ovarian insufficiency is clinically defined as a type of early ovarian failure with irregular menstrual cycles, increased follicle-stimulating hormone, premature menopause, and infertility.
Fatemeh Afkhami, Shirin Shahbazi, Laya Farzadi, Masoumeh Azizi   +3 more
doaj   +1 more source

Trinucleotide Repeat Expansion in the Transcription Factor 4 (TCF4) Gene Leads to Widespread mRNA Splicing Changes in Fuchs' Endothelial Corneal Dystrophy. [PDF]

Invest Ophthalmol Vis Sci, 2017
Wieben ED, Aleff RA, Tang X, Butz ML, Kalari KR, Highsmith EW, Jen J, Vasmatzis G, Patel SV, Maguire LJ, Baratz KH, Fautsch MP.   +11 more
europepmc   +3 more sources

Heterogenous Genetic, Clinical, and Imaging Features in Patients with Neuronal Intranuclear Inclusion Disease Carrying NOTCH2NLC Repeat Expansion

Brain Sciences, 2023
Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder that is caused by the abnormal expansion of non-coding trinucleotide GGC repeats in NOTCH2NLC.
Yusran Ady Fitrah, Yo Higuchi, Norikazu Hara, Takayoshi Tokutake, Masato Kanazawa, Kazuhiro Sanpei, Tomone Taneda, Akihiko Nakajima, Shin Koide, Shintaro Tsuboguchi, Midori Watanabe, Junki Fukumoto, Shoichiro Ando, Tomoe Sato, Yohei Iwafuchi, Aki Sato, Hideki Hayashi, Takanobu Ishiguro, Hayato Takeda, Toshiaki Takahashi, Nobuyoshi Fukuhara, Kensaku Kasuga, Akinori Miyashita, Osamu Onodera, Takeshi Ikeuchi   +24 more
doaj   +1 more source