Results 11 to 20 of about 10,792 (169)

Longitudinal Study of TCF4 CTG Trinucleotide Repeat Length and Disease Severity in Fuchs’ Endothelial Corneal Dystrophy [PDF]

Medical Sciences
Objective: This was a longitudinal study of TCF4 CTG18.1 trinucleotide repeat lengths in 17 patients (27 eyes) diagnosed with Fuchs’ endothelial corneal dystrophy (FECD), and it aimed to correlate the repeat expansion status with disease severity and ...
Jasmin X. J. Teo, Dawn J. H. Neo, Jessica Q. H. Choo, Xin Gong, Zheng Li, Hla Myint Htoon, Min Jie Chua, Yu Qiang Soh, V. Vinod Mootha, Chiea Chuen Khor, Jodhbir S. Mehta   +10 more
doaj   +2 more sources

A dynamic trinucleotide repeat (TNR) expansion in the DMD gene

Molecular and Cellular Probes, 2016
Dystrophinopathies are allelic X-linked myopathies caused by large deletions/duplications or small lesions along the DMD gene. An unexpected dynamic trinucleotide (GAA) expansion, ranging from ∼59 to 82 pure GAA repeats, within the DMD intron 62, was revealed to segregate through three family generations.
, Emmanuel Kanavakis, Pelagia Vorgia
exaly   +4 more sources

Effect of Trinucleotide Repeat Expansion on the Expression ofTCF4mRNA in Fuchs' Endothelial Corneal Dystrophy [PDF]

Invest Ophthalmol Vis Sci, 2019
Masakazu Nakano, Ursula Schlötzer-Schrehardt, Theofilos Tourtas   +2 more
exaly   +2 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

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

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

CTG trinucleotide repeat "big jumps": large expansions, small mice. [PDF]

PLoS Genetics, 2007
Trinucleotide repeat expansions are the genetic cause of numerous human diseases, including fragile X mental retardation, Huntington disease, and myotonic dystrophy type 1.
Mário Gomes-Pereira, Laurent Foiry, Annie Nicole, Aline Huguet, Claudine Junien, Arnold Munnich, Geneviève Gourdon   +6 more
doaj   +1 more source

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, Lahue, Sergei M, Mirkin   +4 more
openaire   +2 more sources

Association and Familial Segregation of CTG18.1 Trinucleotide Repeat Expansion ofTCF4Gene in Fuchs' Endothelial Corneal Dystrophy [PDF]

Invest Ophthalmol Vis Sci, 2014
Chao Xing, V Vinod Mootha
exaly   +2 more sources

Oculopharyngodistal myopathy caused by CGG repeat expansion in 5'untranslated region of LRP12 gene: four cases report

Chinese Journal of Contemporary Neurology and Neurosurgery, 2023
Objective To report the clinical and pathological features of 4 patients with oculopharyngodistal myopathy type 1 (OPDM1) caused by CGG repeat expansion in the 5'untranslated region (5'UTR) of LRP12 gene.
YU Jia‑xi, YU Meng, ZHANG Wei, YUAN Yun, DENG Jian‑wen, WANG Zhao‑xia   +5 more
doaj   +1 more source