Results 61 to 70 of about 26,757 (246)
Nature Communications, 2016 The expansion of trinucleotide repeats can have detrimental effects and give rise to a range of human diseases. Here the authors report that the mismatch repair and the base excision repair machinery can operate together to promote expansion during ...
Yanhao Lai +6 more
doaj +1 more source
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Women with the FMR1 premutation (FXpm) are at heightened genetic vulnerability for depression, with risk compounded by the stressors of parenting a disabled child. Although risk factors persist as FXpm women age, depression in FXpm mothers during midlife and old age is poorly characterized. This study used an accelerated longitudinal design to
Jessica Klusek +8 more
wiley +1 more source
Development of Sequence Tagged Microsatellite Site (STMS) markers in Azalea [PDF]
A genomic library was constructed from DNA of two azalea genotypes: a Belgian pot azalea R. simsii hybrid Mevr. Van Belle and a Chinese R. simsii from Daoxian.
Arens, P. +5 more
core +2 more sources
Phase and antigenic variation in mycoplasmas [PDF]
, 2010 With their reduced genome bound by a single membrane, bacteria of the Mycoplasma species represent some of the simplest autonomous life forms. Yet, these minute prokaryotes are able to establish persistent infection in a wide range of hosts, even in the ...
Baranowski, Eric +2 more
core +2 more sources
Annals of Neurology, EarlyView.Objective The objective of this study was to show the capacity of structural brain magnetic resonance imaging (MRI) measures to serve as monitoring biomarkers for Fragile X‐Associated Tremor/Ataxia Syndrome (FXTAS). Methods From 2 longitudinal studies of male FMR1 premutation carriers, 2 brain MRI scans were selected from each participant, collected ...
David Hessl +6 more
wiley +1 more source
STABILITY OF GAA/TTC AND CTG/CAG TRINUCLEOTIDE REPEATS DURING BREAK-INDUCED REPLICATION IN YEAST [PDF]
, 2012 poster abstractSeveral human neurodegenerative disorders are caused by the expansion of trinucleotide repeats within or near the region of genes. To study the sta-bility of trinucleotide repeats in eukaryotic cells, we insert different number of GAA and ...
Chen, Yu-Hsiang, Malkova, Anna
core
Transcription as a Threat to Genome Integrity [PDF]
, 2016 Genomes undergo different types of sporadic alterations, including DNA damage, point mutations, and genome rearrangements, that constitute the basis for evolution.
Aguilera López, Andrés +1 more
core +1 more source
CAG repeats polymorphism of androgen receptor gene, Kennedy’s disease and male infertility
Андрология и генитальная хирургия, 2019 Genetic factors are a common cause of severe pathozoospermia and male infertility. An increase in the length of trinucleotide repeats causes a number of progressive neurodegenerative diseases, including spinal bulbar muscular atrophy — Kennedy syndrome ...
L. P. Melikyan, V. B. Chernykh
doaj +1 more source
Transferability, Reproducibility and Sensitivity of Mutation Quantification by Duplex Sequencing
Environmental and Molecular Mutagenesis, EarlyView.ABSTRACT Duplex Sequencing (DS) is an ultra‐accurate, error‐corrected next generation sequencing (ecNGS) technology for mutation analysis. A working group (WG) within Health and Environmental Sciences Institute's Genetic Toxicology Technical Committee is investigating the suitability of ecNGS for regulatory mutagenicity testing, using DS as a model ...
Shaofei Zhang +23 more
wiley +1 more source
A Ligand That Targets CUG Trinucleotide Repeats [PDF]
Chemistry – A European Journal, 2016 AbstractThe development of small molecules that can recognize specific RNA secondary and tertiary structures is currently an important research topic for developing tools to modulate gene expression and therapeutic drugs. Expanded CUG trinucleotide repeats, known as toxic RNA, capture the splicing factor MBNL1 and are causative of neurological disorder
Li-Ping Bai +5 more
openaire +2 more sources