Transcription-Associated R-Loop Formation across the Human FMR1 CGG-Repeat Region

Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms

(2013) Paul Hagerman   ACTA NEUROPATHOLOGICA

GC skew at the 5' and 3' ends of human genes links R-loop formation to epigenetic regulation and transcription termination

(2013) P. A. Ginno et al.   GENOME RESEARCH

Transcription-replication encounters, consequences and genomic instability

(2013) Anne Helmrich et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

CGG Repeat-Associated Translation Mediates Neurodegeneration in Fragile X Tremor Ataxia Syndrome

(2013) Peter K. Todd et al.   NEURON

R-loop formation atSnord116mediates topotecan inhibition ofUbe3a-antisenseand allele-specific chromatin decondensation

(2013) Weston T. Powell et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Sequestration of DROSHA and DGCR8 by Expanded CGG RNA Repeats Alters MicroRNA Processing in Fragile X-Associated Tremor/Ataxia Syndrome

(2013) Chantal Sellier et al.   Cell Reports

R-loop-mediated genome instability in mRNA cleavage and polyadenylation mutants

(2012) P. C. Stirling et al.   GENES & DEVELOPMENT

Neurodevelopmental Disabilities in Children With Intermediate and Premutation Range Fragile X Cytosine-Guanine-Guanine Expansions

(2012) Meredith M. Renda et al.   JOURNAL OF CHILD NEUROLOGY

R-Loop Formation Is a Distinctive Characteristic of Unmethylated Human CpG Island Promoters

(2012) Paul A. Ginno et al.   MOLECULAR CELL

R Loops: From Transcription Byproducts to Threats to Genome Stability

(2012) Andrés Aguilera et al.   MOLECULAR CELL

CGG-repeat length threshold for FMR1 RNA pathogenesis in a cellular model for FXTAS

(2011) G. Hoem et al.   HUMAN MOLECULAR GENETICS

ICF Syndrome Mutations Cause a Broad Spectrum of Biochemical Defects in DNMT3B-Mediated De Novo DNA Methylation

(2011) Amir H. Moarefi et al.   JOURNAL OF MOLECULAR BIOLOGY

FMR1 premutation and full mutation molecular mechanisms related to autism

(2011) Randi Hagerman et al.   Journal of Neurodevelopmental Disorders

Collisions between Replication and Transcription Complexes Cause Common Fragile Site Instability at the Longest Human Genes

(2011) Anne Helmrich et al.   MOLECULAR CELL

Yeast Sen1 Helicase Protects the Genome from Transcription-Associated Instability

(2011) Hannah E. Mischo et al.   MOLECULAR CELL

Human Senataxin Resolves RNA/DNA Hybrids Formed at Transcriptional Pause Sites to Promote Xrn2-Dependent Termination

(2011) Konstantina Skourti-Stathaki et al.   MOLECULAR CELL

Differential usage of transcriptional start sites and polyadenylation sites in FMR1 premutation alleles

(2011) F. Tassone et al.   NUCLEIC ACIDS RESEARCH

Testing the FMR1 Promoter for Mosaicism in DNA Methylation among CpG Sites, Strands, and Cells in FMR1-Expressing Males with Fragile X Syndrome

(2011) Reinhard Stöger et al.   PLoS One

New insights into repeat instability

(2011) Elizabeth I. McIvor et al.   RNA Biology

FMR1 and the Continuum of Primary Ovarian Insufficiency

(2011) Shannon Sullivan et al.   SEMINARS IN REPRODUCTIVE MEDICINE

Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome

(2010) Catherine Ross-Inta et al.   BIOCHEMICAL JOURNAL

Mechanisms of chromosomal rearrangement in the human genome

(2010) Albert G Tsai et al.   BMC GENOMICS

DNA double-strand breaks and ATM activation by transcription-blocking DNA lesions

(2010) Olivier Sordet et al.   CELL CYCLE

Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients

(2010) Chantal Sellier et al.   EMBO JOURNAL

Advances in understanding the molecular basis of FXTAS

(2010) D. Garcia-Arocena et al.   HUMAN MOLECULAR GENETICS

The Structure of the Human RNase H2 Complex Defines Key Interaction Interfaces Relevant to Enzyme Function and Human Disease

(2010) Martin A. M. Reijns et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Determinants of R-loop formation at convergent bidirectionally transcribed trinucleotide repeats

(2010) Kaalak Reddy et al.   NUCLEIC ACIDS RESEARCH

A Distinct DNA-Methylation Boundary in the 5′- Upstream Sequence of the FMR1 Promoter Binds Nuclear Proteins and Is Lost in Fragile X Syndrome

(2009) Anja Naumann et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ataxia telangiectasia mutated activation by transcription- and topoisomerase I-induced DNA double-strand breaks

(2009) Olivier Sordet et al.   EMBO REPORTS

Ribonuclease H: the enzymes in eukaryotes

(2009) Susana M. Cerritelli et al.   FEBS Journal

Fibroblast phenotype in male carriers of FMR1 premutation alleles

(2009) Dolores Garcia-Arocena et al.   HUMAN MOLECULAR GENETICS

G Clustering Is Important for the Initiation of Transcription-Induced R-Loops In Vitro, whereas High G Density without Clustering Is Sufficient Thereafter

(2009) D. Roy et al.   MOLECULAR AND CELLULAR BIOLOGY

A Genome-wide siRNA Screen Reveals Diverse Cellular Processes and Pathways that Mediate Genome Stability

(2009) Renee D. Paulsen et al.   MOLECULAR CELL

The role of DNA damage response pathways in chromosome fragility in Fragile X syndrome

(2009) D. Kumari et al.   NUCLEIC ACIDS RESEARCH

ATM and ATR protect the genome against two different types of tandem repeat instability in Fragile X premutation mice

(2009) A. Entezam et al.   NUCLEIC ACIDS RESEARCH

Fragile X–Associated Tremor/Ataxia Syndrome

(2008) Khaled Amiri et al.   ARCHIVES OF NEUROLOGY

Analyzing real-time PCR data by the comparative CT method

(2008) Thomas D Schmittgen et al.   Nature Protocols