[HTML][HTML] Detection of alternative DNA structures and its implications for human disease

G Matos-Rodrigues, JA Hisey, A Nussenzweig… - Molecular Cell, 2023 - cell.com
Around 3% of the genome consists of simple DNA repeats that are prone to forming
alternative (non-B) DNA structures, such as hairpins, cruciforms, triplexes (H-DNA), four …

[HTML][HTML] Helicases in R-loop formation and resolution

S Yang, L Winstone, S Mondal, Y Wu - Journal of Biological Chemistry, 2023 - Elsevier
With the development and wide usage of CRISPR technology, the presence of R-loop
structures, which consist of an RNA: DNA hybrid and a displaced single strand (ss) DNA …

R-loops in genome instability and cancer

F Li, A Zafar, L Luo, AM Denning, J Gu, A Bennett… - Cancers, 2023 - mdpi.com
Simple Summary R-loops are three-stranded structures consisting of an RNA–DNA hybrid
and an unpaired single-stranded DNA (ssDNA), with biological implications in cellular …

[HTML][HTML] Intersection of the fragile X-related disorders and the DNA damage response

D Kumari, J Grant-Bier, F Kadyrov, K Usdin - DNA repair, 2024 - Elsevier
Abstract The Repeat Expansion Diseases (REDs) are a large group of human genetic
disorders that result from an increase in the number of repeats in a disease-specific tandem …

The hidden architects of the genome: a comprehensive review of R-loops

C Yadav, R Yadav, S Nanda, S Ranga… - Molecular Biology Reports, 2024 - Springer
Three-stranded DNA: RNA hybrids known as R-loops form when the non-template DNA
strand is displaced and the mRNA transcript anneals to its template strand. Although R-loop …

From data to insights: machine learning empowers prognostic biomarker prediction in autism

E Mehmetbeyoglu, A Duman, S Taheri, Y Ozkul… - Journal of Personalized …, 2023 - mdpi.com
Autism Spectrum Disorder (ASD) poses significant challenges to society and science due to
its impact on communication, social interaction, and repetitive behavior patterns in affected …

Model-guided design of microRNA-based gene circuits supports precise dosage of transgenic cargoes into diverse primary cells

KS Love, CP Johnstone, EL Peterman, S Gaglione… - …, 2024 - pmc.ncbi.nlm.nih.gov
To realize the potential of engineered cells in therapeutic applications, transgenes must be
expressed within the window of therapeutic efficacy. Differences in copy number and other …

CGG repeats in the human FMR1 gene regulate mRNA localization and cellular stress in developing neurons

CL Sirois, Y Guo, M Li, NE Wolkoff, T Korabelnikov… - Cell Reports, 2024 - cell.com
The human genome has many short tandem repeats, yet the normal functions of these
repeats are unclear. The 5′ untranslated region (UTR) of the fragile X messenger …

Multi-modal investigation reveals pathogenic features of diverse DDX3X missense mutations

F Mosti, ML Hoye, CF Escobar-Tomlienovich… - PLoS …, 2025 - journals.plos.org
De novo mutations in the RNA binding protein DDX3X cause neurodevelopmental disorders
including DDX3X syndrome and autism spectrum disorder. Amongst~ 200 mutations …

Contribution of DNA/RNA Structures Formed by Expanded CGG/CCG Repeats Within the FMR1 Locus in the Pathogenesis of Fragile X‐Associated Disorders

I Broniarek, D Niewiadomska… - Wiley Interdisciplinary …, 2024 - Wiley Online Library
Repeat expansion disorders (REDs) encompass over 50 inherited neurological disorders
and are characterized by the expansion of short tandem nucleotide repeats beyond a …