A Role for Non-B DNA Forming Sequences in Mediating Microlesions Causing Human Inherited Disease

DNA Triplet Repeat Expansion and Mismatch Repair

(2015) Ravi R. Iyer et al.   Annual Review of Biochemistry

Contributions of the specialised DNA polymerases to replication of structured DNA

(2015) Caroline M. Wickramasinghe et al.   DNA REPAIR

The Repeat Expansion Diseases: The dark side of DNA repair

(2015) Xiao-Nan Zhao et al.   DNA REPAIR

Snaps and mends: DNA breaks and chromosomal translocations

(2015) Saniya M. Javadekar et al.   FEBS Journal

A Distinct Triplex DNA Unwinding Activity of ChlR1 Helicase

(2015) Manhong Guo et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Direct Evidence for the Formation of Precatenanes during DNA Replication

(2015) Jorge Cebrián et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The NEIL glycosylases remove oxidized guanine lesions from telomeric and promoter quadruplex DNA structures

(2015) Jia Zhou et al.   NUCLEIC ACIDS RESEARCH

Local DNA dynamics shape mutational patterns of mononucleotide repeats in human genomes

(2015) Albino Bacolla et al.   NUCLEIC ACIDS RESEARCH

Insights into the mechanism of a G-quadruplex-unwinding DEAH-box helicase

(2015) Michael C. Chen et al.   NUCLEIC ACIDS RESEARCH

Short Inverted Repeats Are Hotspots for Genetic Instability: Relevance to Cancer Genomes

(2015) Steve Lu et al.   Cell Reports

Sites of instability in the human TCF3 (E2A) gene adopt G-quadruplex DNA structures in vitro

(2015) Jonathan D. Williams et al.   Frontiers in Genetics

Association of G-quadruplex forming sequences with human mtDNA deletion breakpoints

(2014) Dawei W Dong et al.   BMC GENOMICS

Existence and consequences of G-quadruplex structures in DNA

(2014) Pierre Murat et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Metabolism of DNA secondary structures at the eukaryotic replication fork

(2014) Ana María León-Ortiz et al.   DNA REPAIR

Impact of alternative DNA structures on DNA damage, DNA repair, and genetic instability

(2014) Guliang Wang et al.   DNA REPAIR

The repair of G-quadruplex-induced DNA damage

(2014) Maartje van Kregten et al.   EXPERIMENTAL CELL RESEARCH

A preclinical mouse model of glioma with an alternative mechanism of telomere maintenance (ALT)

(2014) Maya Jeitany et al.   INTERNATIONAL JOURNAL OF CANCER

Three Residues of the Interdomain Linker Determine the Conformation and Single-base Deletion Fidelity of Y-family Translesion Polymerases

(2014) Purba Mukherjee et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

DNA Sequences Proximal to Human Mitochondrial DNA Deletion Breakpoints Prevalent in Human Disease Form G-quadruplexes, a Class of DNA Structures Inefficiently Unwound by the Mitochondrial Replicative Twinkle Helicase

(2014) Sanjay Kumar Bharti et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Direct Observation of Guanine Radical Cation Deprotonation in G-Quadruplex DNA

(2014) Lidan Wu et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

Potential non-B DNA regions in the human genome are associated with higher rates of nucleotide mutation and expression variation

(2014) Xiangjun Du et al.   NUCLEIC ACIDS RESEARCH

Small antisense oligonucleotides against G-quadruplexes: specific mRNA translational switches

(2014) Samuel G. Rouleau et al.   NUCLEIC ACIDS RESEARCH

Characterisation of large F9 deletions in seven unrelated patients with severe haemophilia B

(2014) Qiulan Ding et al.   THROMBOSIS AND HAEMOSTASIS

Causes of Genome Instability

(2013) Andrés Aguilera et al.   Annual Review of Genetics

Structural and Thermodynamic Insight into Escherichia coli UvrABC-Mediated Incision of Cluster Diacetylaminofluorene Adducts on the NarI Sequence

(2013) Vipin Jain et al.   CHEMICAL RESEARCH IN TOXICOLOGY

G-Quadruplex Folds of the Human Telomere Sequence Alter the Site Reactivity and Reaction Pathway of Guanine Oxidation Compared to Duplex DNA

(2013) Aaron M. Fleming et al.   CHEMICAL RESEARCH IN TOXICOLOGY

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

The Human Specialized DNA Polymerases and Non-B DNA: Vital Relationships to Preserve Genome Integrity

(2013) Anne-Sophie Boyer et al.   JOURNAL OF MOLECULAR BIOLOGY

Characterization of large deletions in theF8gene using multiple competitive amplification and the genome walking technique

(2013) G. L. You et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

G-Quadruplex Structures Formed at the HOX11 Breakpoint Region Contribute to Its Fragility during t(10;14) Translocation in T-Cell Leukemia

(2013) M. Nambiar et al.   MOLECULAR AND CELLULAR BIOLOGY

Quantitative visualization of DNA G-quadruplex structures in human cells

(2013) Giulia Biffi et al.   Nature Chemistry

XPD-dependent activation of apoptosis in response to triplex-induced DNA damage

(2013) Meetu Kaushik Tiwari et al.   NUCLEIC ACIDS RESEARCH

Human polymerase kappa uses a template-slippage deletion mechanism, but can realign the slipped strands to favour base substitution mutations over deletions

(2013) P. Mukherjee et al.   NUCLEIC ACIDS RESEARCH

DHX9 helicase is involved in preventing genomic instability induced by alternatively structured DNA in human cells

(2013) A. Jain et al.   NUCLEIC ACIDS RESEARCH

G-quadruplex structures are stable and detectable in human genomic DNA

(2013) Enid Yi Ni Lam et al.   Nature Communications

Microhomology-Mediated Mechanisms Underlie Non-Recurrent Disease-Causing Microdeletions of the FOXL2 Gene or Its Regulatory Domain

(2013) Hannah Verdin et al.   PLoS Genetics

Guanine Holes Are Prominent Targets for Mutation in Cancer and Inherited Disease

(2013) Albino Bacolla et al.   PLoS Genetics

Promoter G-quadruplex sequences are targets for base oxidation and strand cleavage during hypoxia-induced transcription

(2012) David W. Clark et al.   FREE RADICAL BIOLOGY AND MEDICINE

The yin and yang of repair mechanisms in DNA structure-induced genetic instability

(2012) Karen M. Vasquez et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

DNA secondary structures: stability and function of G-quadruplex structures

(2012) Matthew L. Bochman et al.   NATURE REVIEWS GENETICS

G-quadruplex-induced instability during leading-strand replication

(2011) Judith Lopes et al.   EMBO JOURNAL

On the sequence-directed nature of human gene mutation: The role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease

(2011) David N. Cooper et al.   HUMAN MUTATION

Non-B DNA-forming Sequences and WRN Deficiency Independently Increase the Frequency of Base Substitution in Human Cells

(2011) Albino Bacolla et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Biochemical Characterization of Warsaw Breakage Syndrome Helicase

(2011) Yuliang Wu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

DNA secondary structures and epigenetic determinants of cancer genome evolution

(2011) Subhajyoti De et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Structural, energetic and dynamic properties of guanine(C8)–thymine(N3) cross-links in DNA provide insights on susceptibility to nucleotide excision repair

(2011) Shuang Ding et al.   NUCLEIC ACIDS RESEARCH

Resistance of bulky DNA lesions to nucleotide excision repair can result from extensive aromatic lesion–base stacking interactions

(2011) Dara A. Reeves et al.   NUCLEIC ACIDS RESEARCH

Human Pif1 helicase is a G-quadruplex DNA-binding protein with G-quadruplex DNA-unwinding activity

(2010) Cyril M. Sanders   BIOCHEMICAL JOURNAL

Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase α- and β-subunit (GNPTAB) gene mutations causing mucolipidosis types IIα/β and IIIα/β in 46 patients

(2009) Barbara Tappino et al.   HUMAN MUTATION

Gene conversion causing human inherited disease: Evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair

(2009) Nadia Chuzhanova et al.   HUMAN MUTATION

SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype

(2009) G Spurlock et al.   JOURNAL OF MEDICAL GENETICS

Mismatch repair and nucleotide excision repair proteins cooperate in the recognition of DNA interstrand crosslinks

(2009) Junhua Zhao et al.   NUCLEIC ACIDS RESEARCH

Dramatic effect of single-base mutation on the conformational dynamics of human telomeric G-quadruplex

(2009) Ja Yil Lee et al.   NUCLEIC ACIDS RESEARCH

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine

A meta-analysis of nonsense mutations causing human genetic disease

(2008) Matthew Mort et al.   HUMAN MUTATION

DNA Sequence Context as a Determinant of the Quantity and Chemistry of Guanine Oxidation Produced by Hydroxyl Radicals and One-electron Oxidants

(2008) Yelena Margolin et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

FANCJ Helicase Defective in Fanconia Anemia and Breast Cancer Unwinds G-Quadruplex DNA To Defend Genomic Stability

(2008) Y. Wu et al.   MOLECULAR AND CELLULAR BIOLOGY

The functional response of upstream DNA to dynamic supercoiling in vivo

(2008) Fedor Kouzine et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY