Results 11 to 20 of about 17,057 (211)

Studies on Copper and Aβ-Induced Conformational Changes in CAG/CTG Trinucleotide Repeats Sequence [PDF]

open access: yesJournal of Alzheimer's Disease Reports, 2017
DNA conformation and stability are critical for the normal cell functions, which control many cellular processes in life, such as replication, transcription, DNA repair, etc.
M. Govindaraju   +5 more
doaj   +2 more sources

CGG, CAG, and GAA: Genome-wide comparison of the disease linked trinucleotide short tandem repeats [PDF]

open access: yesBMC Genomics
Short tandem repeats (STRs) are tracts of 1–6 bp DNA motifs repeated in a head-to-tail fashion, collectively accounting for approximately 3% of the human genome.
Dale J. Annear   +2 more
doaj   +2 more sources

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

open access: yesStem 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   +9 more
doaj   +1 more source

Development of novel macrocyclic small molecules that target CTG trinucleotide repeats [PDF]

open access: yesBioorganic and Medicinal Chemistry, 2019
Julio F Serrano   +2 more
exaly   +2 more sources

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

open access: yesComputational 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   +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]

open access: yesمجله 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   +3 more
doaj   +1 more source

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

open access: yesPLoS 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   +5 more
doaj   +1 more source

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

open access: yesPLoS 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   +6 more
doaj   +1 more source

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

open access: yesBrain 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   +24 more
doaj   +1 more source

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