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Author Details

Agata Smogorzewska
Instituto de Investigacion Sanitaria Hospital 12 de Octubre (imas12)
1997
70
40
PMIDPaper TitleJournal TitlePublished Year
36912284Fanconi anemia-isogenic head and neck cancer cell line pairs: A basic and translational science resource.Int J Cancer2023
36993543RTF2 controls replication repriming and ribonucleotide excision at the replisome.bioRxiv2023
35941380The structure-specific endonuclease complex SLX4-XPF regulates Tus-Ter-induced homologous recombination.Nat Struct Mol Biol2022
35394024Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation.Hum Mol Genet2022
36450981Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer.Nature2022
32866285Comparison of the clinical phenotype and haematological course of siblings with Fanconi anaemia.Br J Haematol2021
33653953CENP-A chromatin prevents replication stress at centromeres to avoid structural aneuploidy.Proc Natl Acad Sci U S A2021
33893150Transcriptional Silencing of <i>ALDH2</i> Confers a Dependency on Fanconi Anemia Proteins in Acute Myeloid Leukemia.Cancer Discov2021
33856442Endogenous formaldehyde destroys blood stem cells.Blood2021
34045293Treatment of Fanconi Anemia-Associated Head and Neck Cancer: Opportunities to Improve Outcomes.Clin Cancer Res2021
32646888A homozygous missense variant in UBE2T is associated with a mild Fanconi anemia phenotype.Haematologica2021
31513304A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India.Hum Mutat2020
32042151Cell fitness screens reveal a conflict between LINE-1 retrotransposition and DNA replication.Nat Struct Mol Biol2020
32106311Association of clinical severity with FANCB variant type in Fanconi anemia.Blood2020
33172906Esophageal cancer as initial presentation of Fanconi anemia in patients with a hypomorphic <i>FANCA</i> variant.Cold Spring Harb Mol Case Stud2020
32853827Mechanisms of direct replication restart at stressed replisomes.DNA Repair (Amst)2020
32865112Suppression of non-homologous end joining does not rescue DNA repair defects in Fanconi anemia patient cells.Cell Cycle2020
30670471Advances in understanding DNA processing and protection at stalled replication forks.J Cell Biol2019
29290612Removal of RTF2 from Stalled Replisomes Promotes Maintenance of Genome Integrity.Mol Cell2018
29098742A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.Hum Mutat2018
29193904Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype.Mol Genet Genomic Med2018
29089421Genetic interrogation of replicative senescence uncovers a dual role for USP28 in coordinating the p53 and GATA4 branches of the senescence program.Genes Dev2017
28414293Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency.J Clin Invest2017
28162934S. pombe Uba1-Ubc15 Structure Reveals a Novel Regulatory Mechanism of Ubiquitin E2 Activity.Mol Cell2017
29284711Corrigendum: Genetic interrogation of replicative senescence uncovers a dual role for USP28 in coordinating the p53 and GATA4 branches of the senescence program.Genes Dev2017
26841305Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia.Hum Mutat2016
26484938Natural history and management of Fanconi anemia patients with head and neck cancer: A 10-year follow-up.Laryngoscope2016
26980189Fan1 deficiency results in DNA interstrand cross-link repair defects, enhanced tissue karyomegaly, and organ dysfunction.Genes Dev2016
25533185Noncovalent interactions with SUMO and ubiquitin orchestrate distinct functions of the SLX4 complex in genome maintenance.Mol Cell2015
26253028A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination.Mol Cell2015
26181256Whole-Exome Sequencing of Metastatic Cancer and Biomarkers of Treatment Response.JAMA Oncol2015
26119737Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia.Cell Rep2015
25594185SnapShot: Fanconi anemia and associated proteins.Cell2015
25168418Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes.Hum Mutat2014
25430771DNA repair. Mechanism of DNA interstrand cross-link processing by repair nuclease FAN1.Science2014
23093618Regulation of multiple DNA repair pathways by the Fanconi anemia protein SLX4.Blood2013
24080495Human GEN1 and the SLX4-associated nucleases MUS81 and SLX1 are essential for the resolution of replication-induced Holliday junctions.Cell Rep2013
23840564Assessment of SLX4 Mutations in Hereditary Breast Cancers.PLoS One2013
23613520Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.Blood2013
23325218Fanconi anaemia and the repair of Watson and Crick DNA crosslinks.Nature2013
22344029A genome-wide homologous recombination screen identifies the RNA-binding protein RBMX as a component of the DNA-damage response.Nat Cell Biol2012
22772369FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair.Nat Genet2012
22863007Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.Cell2012
22354167Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency.J Clin Invest2012
21240275Mutations of the SLX4 gene in Fanconi anemia.Nat Genet2011
21764741Structure of the FANCI-FANCD2 complex: insights into the Fanconi anemia DNA repair pathway.Science2011
21930984Postoperative clinical radiosensitivity in patients with fanconi anemia and head and neck squamous cell carcinoma.Arch Otolaryngol Head Neck Surg2011
21605559Ubiquitylation and the Fanconi anemia pathway.FEBS Lett2011
20660729Polybromo-associated BRG1-associated factor components BRD7 and BAF180 are critical regulators of p53 required for induction of replicative senescence.Proc Natl Acad Sci U S A2010
20603073A genetic screen identifies FAN1, a Fanconi anemia-associated nuclease necessary for DNA interstrand crosslink repair.Mol Cell2010
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Collaborators

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Co-authored papers 6
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Harvard Medical School
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Co-authored papers 4
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Co-authored papers 3
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Co-authored papers 3
University of Virginia
Co-authored papers 3
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Co-authored papers 3
Oncode Institute, Netherlands Cancer Institute
Co-authored papers 2
Boston Children's Hospital
Co-authored papers 2
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The Broad Institute of Harvard and MIT
Co-authored papers 2
HudsonAlpha Institute for Biotechnology
Co-authored papers 2
Memorial Sloan Kettering Cancer Center
Co-authored papers 2
Meyer Cancer Center
Co-authored papers 2
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