Bloom syndrome and the underlying causes of genetic instability

The Bloom syndrome complex senses RPA-coated single-stranded DNA to restart stalled replication forks

(2021) Ann-Marie K. Shorrocks et al.   Nature Communications

Mechanisms that drive telomere maintenance and recombination in human cancers

(2020) Alexander P Sobinoff et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Resolution of ROS‐induced G‐quadruplexes and R‐loops at transcriptionally active sites is dependent on BLM helicase

(2020) Jun Tan et al.   FEBS LETTERS

Topoisomerase IIα prevents ultrafine anaphase bridges by two mechanisms

(2020) Simon Gemble et al.   Open Biology

Clinical implications of germline mutations in breast cancer genes: RECQL

(2019) A. Ramsay Bowden et al.   BREAST CANCER RESEARCH AND TREATMENT

Alternative Lengthening of Telomeres through Two Distinct Break-Induced Replication Pathways

(2019) Jia-Min Zhang et al.   Cell Reports

Discovery of Isaindigotone Derivatives as Novel Bloom’s Syndrome Protein (BLM) Helicase Inhibitors That Disrupt the BLM/DNA Interactions and Regulate the Homologous Recombination Repair

(2019) Qi-Kun Yin et al.   JOURNAL OF MEDICINAL CHEMISTRY

Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS

(2019) Matthieu Gratia et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Bloom Syndrome Protein Activates AKT and PRAS40 in Prostate Cancer Cells

(2019) Kun Chen et al.   Oxidative Medicine and Cellular Longevity

PLK1 facilitates chromosome biorientation by suppressing centromere disintegration driven by BLM-mediated unwinding and spindle pulling

(2019) Owen Addis Jones et al.   Nature Communications

Screening antiproliferative drug for breast cancer from bisbenzylisoquinoline alkaloid tetrandrine and fangchinoline derivatives by targeting BLM helicase

(2019) Wangming Zhang et al.   BMC CANCER

The Cytosolic DNA-Sensing cGAS–STING Pathway in Cancer

(2019) John Kwon et al.   Cancer Discovery

Overexpression of BLM promotes DNA damage and increased sensitivity to platinum salts in triple-negative breast and serous ovarian cancers

(2018) N J Birkbak et al.   ANNALS OF ONCOLOGY

A tri-serine cluster within the topoisomerase IIα-interaction domain of the BLM helicase is required for regulating chromosome breakage in human cells

(2018) Julia Harris Behnfeldt et al.   HUMAN MOLECULAR GENETICS

DNA replication stress and its impact on chromosome segregation and tumorigenesis

(2018) Bi Ning Zhang et al.   SEMINARS IN CANCER BIOLOGY

Health supervision for people with Bloom syndrome

(2018) Christopher Cunniff et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

BLM’s balancing act and the involvement of FANCJ in DNA repair

(2018) Srijita Dhar et al.   CELL CYCLE

BLM Potentiates c-Jun Degradation and Alters Its Function as an Oncogenic Transcription Factor

(2018) Raina Priyadarshini et al.   Cell Reports

Keeping ribosomal DNA intact: a repeating challenge

(2018) Daniël O. Warmerdam et al.   CHROMOSOME RESEARCH

Nuclear cGAS suppresses DNA repair and promotes tumorigenesis

(2018) Haipeng Liu et al.   NATURE

A prosurvival DNA damage-induced cytoplasmic interferon response is mediated by end resection factors and is limited by Trex1

(2017) Erkin Erdal et al.   GENES & DEVELOPMENT

BLM helicase regulates DNA repair by counteracting RAD51 loading at DNA double-strand break sites

(2017) Dharm S. Patel et al.   JOURNAL OF CELL BIOLOGY

RECQ-like helicases Sgs1 and BLM regulate R-loop–associated genome instability

(2017) Emily Yun-Chia Chang et al.   JOURNAL OF CELL BIOLOGY

Immunodeficiency in Bloom’s Syndrome

(2017) Michiel H. D. Schoenaker et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Unresolved recombination intermediates lead to ultra-fine anaphase bridges, chromosome breaks and aberrations

(2017) Ying Wai Chan et al.   NATURE CELL BIOLOGY

FANCM, BRCA1, and BLM cooperatively resolve the replication stress at the ALT telomeres

(2017) Xiaolei Pan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Alternative Lengthening of Telomeres: DNA Repair Pathways Converge

(2017) Alexander P. Sobinoff et al.   TRENDS IN GENETICS

A role for Tau protein in maintaining ribosomal DNA stability and cytidine deaminase-deficient cell survival

(2017) Elias Bou Samra et al.   Nature Communications

Aberrant BLM cytoplasmic expression associates with DNA damage stress and hypersensitivity to DNA-damaging agents in colorectal cancer

(2016) Carolina Votino et al.   JOURNAL OF GASTROENTEROLOGY

Mutator Phenotype and DNA Double-Strand Break Repair in BLM Helicase-Deficient Human Cells

(2016) Tetsuya Suzuki et al.   MOLECULAR AND CELLULAR BIOLOGY

Clinicopathological and Functional Significance of RECQL1 Helicase in Sporadic Breast Cancers

(2016) Arvind Arora et al.   MOLECULAR CANCER THERAPEUTICS

How cancer cells hijack DNA double-strand break repair pathways to gain genomic instability

(2015) P. A. Jeggo et al.   BIOCHEMICAL JOURNAL

Relationships between putative G-quadruplex-forming sequences, RecQ helicases, and transcription

(2015) John A. Smestad et al.   BMC Medical Genetics

BLM helicase facilitates telomere replication during leading strand synthesis of telomeres

(2015) William C. Drosopoulos et al.   JOURNAL OF CELL BIOLOGY

Transcriptomic and Protein Expression Analysis Reveals Clinicopathological Significance of Bloom Syndrome Helicase (BLM) in Breast Cancer

(2015) A. Arora et al.   MOLECULAR CANCER THERAPEUTICS

Crystal structure of the Bloom's syndrome helicase indicates a role for the HRDC domain in conformational changes

(2015) Joseph A. Newman et al.   NUCLEIC ACIDS RESEARCH

G-quadruplexes and their regulatory roles in biology

(2015) Daniela Rhodes et al.   NUCLEIC ACIDS RESEARCH

Homologous Recombination and Human Health: The Roles of BRCA1, BRCA2, and Associated Proteins

(2015) Rohit Prakash et al.   Cold Spring Harbor Perspectives in Biology

Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer

(2015) Richarda M. de Voer et al.   Scientific Reports

Pyrimidine Pool Disequilibrium Induced by a Cytidine Deaminase Deficiency Inhibits PARP-1 Activity, Leading to the Under Replication of DNA

(2015) Simon Gemble et al.   PLoS Genetics

Human RecQ Helicases in DNA Repair, Recombination, and Replication

(2014) Deborah L. Croteau et al.   Annual Review of Biochemistry

Genomic Instability Resulting from Blm Deficiency Compromises Development, Maintenance, and Function of the B Cell Lineage

(2014) H. Babbe et al.   JOURNAL OF IMMUNOLOGY

Regulation of gene expression by the BLM helicase correlates with the presence of G-quadruplex DNA motifs

(2014) Giang Huong Nguyen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2014) Indiana Magdalou et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

The Dissolution of Double Holliday Junctions

(2014) A. H. Bizard et al.   Cold Spring Harbor Perspectives in Biology

Structure of human Bloom's syndrome helicase in complex with ADP and duplex DNA

(2014) Michael K. Swan et al.   ACTA CRYSTALLOGRAPHICA SECTION D-BIOLOGICAL CRYSTALLOGRAPHY

Structural mechanisms of human RecQ helicases WRN and BLM

(2014) Ken Kitano   Frontiers in Genetics

RecQ5 Protein Translocation into the Nucleus by a Nuclear Localization Signal

(2013) Haruna Sakurai et al.   BIOLOGICAL & PHARMACEUTICAL BULLETIN

Synthesis and SAR studies of 5-(pyridin-4-yl)-1,3,4-thiadiazol-2-amine derivatives as potent inhibitors of Bloom helicase

(2013) Andrew S. Rosenthal et al.   BIOORGANIC & MEDICINAL CHEMISTRY LETTERS

A new development in DNA repair modulation

(2013) Taraswi Banerjee et al.   CELL CYCLE

The BLM dissolvasome in DNA replication and repair

(2013) Kelly A. Manthei et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

DNA replication and homologous recombination factors: acting together to maintain genome stability

(2013) Antoine Aze et al.   CHROMOSOMA

Ubiquitin-dependent recruitment of the Bloom Syndrome helicase upon replication stress is required to suppress homologous recombination

(2013) Shweta Tikoo et al.   EMBO JOURNAL

A common nonsense mutation of the BLM gene and prostate cancer risk and survival

(2013) Andrzej Antczak et al.   GENE

Enhancement of microhomology-mediated genomic rearrangements by transient loss of mouse Bloom syndrome helicase

(2013) A. Yamanishi et al.   GENOME RESEARCH

Enhancement of c-Myc degradation by BLM helicase leads to delayed tumor initiation

(2013) S. Chandra et al.   JOURNAL OF CELL SCIENCE

The G4 Genome

(2013) Nancy Maizels et al.   PLoS Genetics

Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom’s syndrome, is associated with breast cancer in Slavic populations

(2012) Darya Prokofyeva et al.   BREAST CANCER RESEARCH AND TREATMENT

Distinct functions of human RECQ helicases WRN and BLM in replication fork recovery and progression after hydroxyurea-induced stalling

(2012) Julia M. Sidorova et al.   DNA REPAIR

RMI1 Promotes DNA Replication Fork Progression and Recovery from Replication Fork Stress

(2012) J. Yang et al.   MOLECULAR AND CELLULAR BIOLOGY

MYC-Driven Tumorigenesis Is Inhibited by WRN Syndrome Gene Deficiency

(2012) R. Moser et al.   MOLECULAR CANCER RESEARCH

Collaborating functions of BLM and DNA topoisomerase I in regulating human rDNA transcription

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

The BLM helicase contributes to telomere maintenance through processing of late-replicating intermediate structures

(2012) Colleen Barefield et al.   NUCLEIC ACIDS RESEARCH

Bloom’s Syndrome and PICH Helicases Cooperate with Topoisomerase IIα in Centromere Disjunction before Anaphase

(2012) Sébastien Rouzeau et al.   PLoS One

Cyclic GMP-AMP Synthase Is a Cytosolic DNA Sensor That Activates the Type I Interferon Pathway

(2012) L. Sun et al.   SCIENCE

Chromosome Breakage Is Regulated by the Interaction of the BLM Helicase and Topoisomerase IIα

(2011) Beatriz Russell et al.   CANCER RESEARCH

On the origins of ultra-fine anaphase bridges

(2011) Kok Lung Chan et al.   CELL CYCLE

BLM-DNA2-RPA-MRN and EXO1-BLM-RPA-MRN constitute two DNA end resection machineries for human DNA break repair

(2011) A. V. Nimonkar et al.   GENES & DEVELOPMENT

BLM helicase facilitates RNA polymerase I-mediated ribosomal RNA transcription

(2011) Patrick M. Grierson et al.   HUMAN MOLECULAR GENETICS

High prevalence and breast cancer predisposing role of the BLM c.1642 C>T (Q548X) mutation in Russia

(2011) Anna P. Sokolenko et al.   INTERNATIONAL JOURNAL OF CANCER

Aberrant chromosome morphology in human cells defective for Holliday junction resolution

(2011) Thomas Wechsler et al.   NATURE

Pyrimidine pool imbalance induced by BLM helicase deficiency contributes to genetic instability in Bloom syndrome

(2011) Pauline Chabosseau et al.   Nature Communications

The Human WRN and BLM RecQ Helicases Differentially Regulate Cell Proliferation and Survival after Chemotherapeutic DNA Damage

(2010) F. J. Mao et al.   CANCER RESEARCH

Bloom's Syndrome. VII. Progress report for 1978

(2010) James German et al.   CLINICAL GENETICS

Bloom's Syndrome. XII. Report from the Registry for 1987

(2010) James German et al.   CLINICAL GENETICS

Bloom's syndrome. V. Surveillance for cancer in affected families

(2010) James German et al.   CLINICAL GENETICS

An essential DNA strand-exchange activity is conserved in the divergent N-termini of BLM orthologs

(2010) Chi-Fu Chen et al.   EMBO JOURNAL

Solution structure of the HRDC domain of human Bloom syndrome protein BLM

(2010) Akiko Sato et al.   JOURNAL OF BIOCHEMISTRY

Human Topoisomerase IIIα Is a Single-stranded DNA Decatenase That Is Stimulated by BLM and RMI1

(2010) Jay Yang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Protein expression of BLM gene and its apoptosis sensitivity in hematopoietic tumor cell strains

(2010) Xiaobei Wang et al.   Journal of Huazhong University of Science and Technology-Medical Sciences

The Bloom Syndrome Protein Limits the Lethality Associated with RAD51 Deficiency

(2010) K. Lahkim Bennani-Belhaj et al.   MOLECULAR CANCER RESEARCH

Genomic instability — an evolving hallmark of cancer

(2010) Simona Negrini et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Human rRNA Gene Clusters Are Recombinational Hotspots in Cancer

(2009) D. M. Stults et al.   CANCER RESEARCH

Colorectal cancer and polymorphisms in DNA repair genes WRN , RMI1 and BLM

(2009) Bernd Frank et al.   CARCINOGENESIS

Loss of Bloom syndrome protein destabilizes human gene cluster architecture

(2009) Michael W. Killen et al.   HUMAN MOLECULAR GENETICS

Telomerase-associated Protein 1, HSP90, and Topoisomerase IIα Associate Directly with the BLM Helicase in Immortalized Cells Using ALT and Modulate Its Helicase Activity Using Telomeric DNA Substrates

(2009) Saumitri Bhattacharyya et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Bloom Syndrome Helicase Stimulates RAD51 DNA Strand Exchange Activity through a Novel Mechanism

(2009) Dmitry V. Bugreev et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Replication stress induces sister-chromatid bridging at fragile site loci in mitosis

(2009) Kok Lung Chan et al.   NATURE CELL BIOLOGY

The FANC pathway and BLM collaborate during mitosis to prevent micro-nucleation and chromosome abnormalities

(2009) Valeria Naim et al.   NATURE CELL BIOLOGY

Altered gene expression in the Werner and Bloom syndromes is associated with sequences having G-quadruplex forming potential

(2009) Jay E. Johnson et al.   NUCLEIC ACIDS RESEARCH

c-Myc Accelerates S-Phase and Requires WRN to Avoid Replication Stress

(2009) Kristin Robinson et al.   PLoS One

SUMO Modification Regulates BLM and RAD51 Interaction at Damaged Replication Forks

(2009) Karen J. Ouyang et al.   PLOS BIOLOGY

Genetic variants of BLM interact with RAD51 to increase breast cancer susceptibility

(2008) Shian-ling Ding et al.   CARCINOGENESIS

Trex1 Prevents Cell-Intrinsic Initiation of Autoimmunity

(2008) Daniel B. Stetson et al.   CELL

RecQ helicases: guardian angels of the DNA replication fork

(2008) Csanád Z. Bachrati et al.   CHROMOSOMA

The mutation spectrum in RECQL4 diseases

(2008) H Annika Siitonen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

DNA helicases Sgs1 and BLM promote DNA double-strand break resection

(2008) S. Gravel et al.   GENES & DEVELOPMENT

BLAP18/RMI2, a novel OB-fold-containing protein, is an essential component of the Bloom helicase-double Holliday junction dissolvasome

(2008) T. R. Singh et al.   GENES & DEVELOPMENT

Human exonuclease 1 and BLM helicase interact to resect DNA and initiate DNA repair

(2008) A. V. Nimonkar et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA