Transcription–replication conflicts: how they occur and how they are resolved

T García-Muse, A Aguilera - Nature reviews Molecular cell biology, 2016 - nature.com
The frequent occurrence of transcription and DNA replication in cells results in many
encounters, and thus conflicts, between the transcription and replication machineries. These …

Fragile X syndrome

RJ Hagerman, E Berry-Kravis, HC Hazlett… - Nature reviews Disease …, 2017 - nature.com
Fragile X syndrome (FXS) is the leading inherited form of intellectual disability and autism
spectrum disorder, and patients can present with severe behavioural alterations, including …

G4‐associated human diseases

N Maizels - EMBO reports, 2015 - embopress.org
Recent research has established clear connections between G‐quadruplexes and human
disease. Features of quadruplex structures that promote genomic instability have been …

Replication of G quadruplex DNA

LK Lerner, JE Sale - Genes, 2019 - mdpi.com
A cursory look at any textbook image of DNA replication might suggest that the complex
machine that is the replisome runs smoothly along the chromosomal DNA. However, many …

Promoter-bound trinucleotide repeat mRNA drives epigenetic silencing in fragile X syndrome

D Colak, N Zaninovic, MS Cohen, Z Rosenwaks… - Science, 2014 - science.org
Epigenetic gene silencing is seen in several repeat-expansion diseases. In fragile X
syndrome, the most common genetic form of mental retardation, a CGG trinucleotide–repeat …

Native functions of short tandem repeats

SE Wright, PK Todd - Elife, 2023 - elifesciences.org
Over a third of the human genome is comprised of repetitive sequences, including more than
a million short tandem repeats (STRs). While studies of the pathologic consequences of …

Repeat instability during DNA repair: Insights from model systems

K Usdin, NCM House… - Critical reviews in …, 2015 - Taylor & Francis
The expansion of repeated sequences is the cause of over 30 inherited genetic diseases,
including Huntington disease, myotonic dystrophy (types 1 and 2), fragile X syndrome, many …

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation

F Tassone, D Protic, EG Allen, AD Archibald, A Baud… - Cells, 2023 - mdpi.com
The premutation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene is
characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the …

The causes of replication stress and their consequences on genome stability and cell fate

I Magdalou, BS Lopez, P Pasero… - Seminars in cell & …, 2014 - Elsevier
Alterations of the dynamics of DNA replication cause genome instability. These alterations
known as “replication stress” have emerged as a major source of genomic instability in pre …

The fragile X mutation impairs homeostatic plasticity in human neurons by blocking synaptic retinoic acid signaling

Z Zhang, SG Marro, Y Zhang, KL Arendt… - Science translational …, 2018 - science.org
Fragile X syndrome (FXS) is an X chromosome–linked disease leading to severe intellectual
disabilities. FXS is caused by inactivation of the fragile X mental retardation 1 (FMR1) gene …