Results 31 to 40 of about 507 (138)
Advanced Science, EarlyView.A brain‐targeted nanoparticle enables delivery of a therapeutic nanobody (Nb.29E9) that inhibits pathogenic GSK3β signaling. This intervention restores AMPK/mTORC1/TGFβ homeostasis, attenuates neuroinflammation and oxidative stress, and promotes long‐term functional recovery after ischemic stroke.
Lan Li +14 more
wiley +1 more source
A Case of Juvenile Huntington Disease in a 6-Year-Old Boy [PDF]
Journal of Movement Disorders, 2010 Huntington disease is a neurodegenerative disorder distinguished by the triad of dominant inheritance, choreoathetosis and dementia, usually with onset in the fourth and fifth decades.
Jun-Sang Sunwoo, Soon-Tae Lee, Manho Kim
doaj +1 more source
Advanced Science, EarlyView.Single‐cell RNA editing analysis identifies ADAR1 as a regulator of dysfunctional T cell states in colorectal cancer. Elevated ADAR1 activity promotes T cell exhaustion and impairs antitumor immunity partly through TGF‐β‐SMAD signaling, contributing to anti‐PD‐1 resistance and highlighting T cell ADAR1 as a potential therapeutic target and biomarker ...
Da Kang +10 more
wiley +1 more source
GFP-based fluorescence assay for CAG repeat instability in cultured human cells. [PDF]
PLoS ONE, 2014 Trinucleotide repeats can be highly unstable, mutating far more frequently than point mutations. Repeats typically mutate by addition or loss of units of the repeat.
Beatriz A Santillan +3 more
doaj +1 more source
Raman Optical Activity as a Tool to Monitor Polynucleotide Conformation in Solutions
Chemistry – A European Journal, EarlyView.Raman optical activity (ROA) studies of nucleic acids have been hindered by limited computational tools to link the spectra to the structure. The study shows that accurate density functional simulations are possible for model nucleotides, bringing more information about molecular geometry and dynamics in solutions.
Mohammed Siddhique Para Kkadan +5 more
wiley +1 more source
Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes
Epilepsia Open, EarlyView.Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola +3 more
wiley +1 more source
The Startling Role of Mismatch Repair in Trinucleotide Repeat Expansions
Cells, 2021 Trinucleotide repeats are a peculiar class of microsatellites whose expansions are responsible for approximately 30 human neurological or developmental disorders.
Guy-Franck Richard
doaj +1 more source
iMeta, EarlyView.We present two near‐complete triticale genome assemblies and perform pan‐centromere analyses across >200 haplotypes from parental species, synthetic allopolyploids, cultivars, and 337 resequenced accessions, revealing a shared chromatin framework underlying functional centromeres in all three subgenomes, where wheat‐ and rye‐derived CENH3 co‐occupy ...
Yang Liu +7 more
wiley +1 more source
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
Microsatellite Stability in STR Analysis Aspergillus fumigatus Depends on Number of Repeat Units
Frontiers in Cellular and Infection Microbiology, 2019 More than a decade ago a short tandem repeat-based typing method was developed for the fungus Aspergillus fumigatus. This STRAf assay is based on the analysis of nine short tandem repeat markers.
Theun de Groot +3 more
doaj +1 more source