Results 1 to 10 of about 507 (138)

Trinucleotide Repeats: A structural perspective [PDF]

Frontiers in Neurology, 2013
Trinucleotide repeat (TNR) expansions are present in a wide range of genes involved in several neurological disorders, being directly involved in the molecular mechanisms underlying pathogenesis through modulation of gene expression and/or the function ...
Bruno eAlmeida, Sara eFernandes, Isabel A. Abreu, Sandra eMacedo-Ribeiro   +3 more
doaj   +3 more sources

TALEN-Induced Double-Strand Break Repair of CTG Trinucleotide Repeats

Cell Reports, 2018
Summary: Trinucleotide repeat expansions involving CTG/CAG triplets are responsible for several neurodegenerative disorders, including myotonic dystrophy and Huntington’s disease. Because expansions trigger the disease, contracting repeat length could be
Valentine Mosbach, Guy-Franck Richard, Lucie Poggi   +2 more
exaly   +3 more sources

Effect of Trinucleotide Repeats in the Huntington's Gene on Intelligence

EBioMedicine, 2018
Background: Huntington's Disease (HD) is caused by an abnormality in the HTT gene. This gene includes trinucleotide repeats ranging from 10 to 35, and when expanded beyond 39, causes HD.
Amy L Conrad, Eric Epping, Vincent Magnotta   +2 more
exaly   +3 more sources

Generation of induced pluripotent stem cell line RCPCMi008-A derived from patient with spinocerebellar ataxia 17

Stem Cell Research, 2021
IPSC line RCPCMi004-8 was generated from skin fibroblasts collected from a male patient with spinocerebellar ataxia 17. The patient has expanded trinucleotide CAG repeats in the TBP (TATA-binding protein) gene on chromosome 6q27.
L.D. Shuvalova, A.V. Davidenko, A.V. Eremeev, E.A. Khomyakova, E.A. Zerkalenkova, O.S. Lebedeva, A.N. Bogomazova, S.A. Klyushnikov, S.N. Illarioshkin, M.A. Lagarkova   +9 more
doaj   +1 more source

Molecular conformations and dynamics of nucleotide repeats associated with neurodegenerative diseases: double helices and CAG hairpin loops

Computational and Structural Biotechnology Journal, 2021
Pathogenic DNA secondary structures have been identified as a common and causative factor for expansion in trinucleotide, hexanucleotide, and other simple sequence repeats.
Feng Pan, Yuan Zhang, Pengning Xu, Viet Hoang Man, Christopher Roland, Keith Weninger, Celeste Sagui   +6 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

Highly specific contractions of a single CAG/CTG trinucleotide repeat by TALEN in yeast. [PDF]

PLoS ONE, 2014
Trinucleotide repeat expansions are responsible for more than two dozens severe neurological disorders in humans. A double-strand break between two short CAG/CTG trinucleotide repeats was formerly shown to induce a high frequency of repeat contractions ...
Guy-Franck Richard, David Viterbo, Varun Khanna, Valentine Mosbach, Lauriane Castelain, Bernard Dujon   +5 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

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