Results 31 to 40 of about 585,191 (278)

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

G-Quadruplex formation using fluorescent oligonucleotides as a detection method for discriminating AGG trinucleotide repeats

Chemical Communications, 2016
We have developed a simple and sensitive system for detecting AGG trinucleotide repeats through the formation of intermolecular G-quadruplexes using a fluorescent oligonucleotide.
Yoojin Park, Ki Tae Kim, Byeang Hyean Kim   +2 more
openalex   +3 more sources

Pms2 suppresses large expansions of the (GAA·TTC)n sequence in neuronal tissues [PDF]

, 2012
Copyright @ 2012 Bourn et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source ...
Chiranjeevi Sandi, David T. Kirkpatrick, Irene De Biase, Mark A. Pook, Rebecka L. Bourn, Ricardo Mouro Pinto, Sahar Al-Mahdawi, Sanjay I. Bidichandani   +7 more
core   +6 more sources

Dynamics of strand slippage in DNA hairpins formed by CAG repeats: roles of sequence parity and trinucleotide interrupts

Nucleic Acids Research, 2020
DNA trinucleotide repeats (TRs) can exhibit dynamic expansions by integer numbers of trinucleotides that lead to neurodegenerative disorders. Strand slipped hairpins during DNA replication, repair and/or recombination may contribute to TR expansion. Here,
Pengning Xu, Feng Pan, C. Roland, C. Sagui, K. Weninger   +4 more
semanticscholar   +1 more source

DNA methylation and trinucleotide repeat expansion diseases [PDF]

, 2012
Copyright @ 2012 InTechThis article has been made available through the Brunel Open Access Publishing Fund.This article is made available through the Brunel Open Access Publishing ...
Pook, M
core   +2 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