List of works - Agata Smogorzewska

A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination

scientific journal article

A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.

scientific article published on 2 November 2017

A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India

scientific article published on 26 September 2019

A genetic screen identifies FAN1, a Fanconi anemia-associated nuclease necessary for DNA interstrand crosslink repair

scientific article

A genome-wide homologous recombination screen identifies the RNA-binding protein RBMX as a component of the DNA-damage response

scientific article published on 19 February 2012

ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage

scientific article

Abraxas and RAP80 form a BRCA1 protein complex required for the DNA damage response

scientific article

Advances in understanding DNA processing and protection at stalled replication forks

scientific article published on 22 January 2019

Assessment of SLX4 Mutations in Hereditary Breast Cancers

scientific article

Association of clinical severity with FANCB variant type in Fanconi anemia

scientific article published on 27 February 2020

Cancer proliferation gene discovery through functional genomics.

scientific article

Cell fitness screens reveal a conflict between LINE-1 retrotransposition and DNA replication

scientific article published on 10 February 2020

Chromosome instability syndromes.

scientific article published on 19 September 2019

Comparison of the clinical phenotype and haematological course of siblings with Fanconi anaemia

scientific article published on 31 August 2020

Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes

scientific article published on November 2014

Control of human telomere length by TRF1 and TRF2

scientific article

Corrigendum: Genetic interrogation of replicative senescence uncovers a dual role for USP28 in coordinating the p53 and GATA4 branches of the senescence program

scientific article published in November 2017

DNA damage foci at dysfunctional telomeres

scientific article (publication date: 2 September 2003)

DNA ligase IV-dependent NHEJ of deprotected mammalian telomeres in G1 and G2

scientific journal article

DNA repair. Mechanism of DNA interstrand cross-link processing by repair nuclease FAN1

scientific article

Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia

scientific article published on 25 June 2015

Different telomere damage signaling pathways in human and mouse cells

scientific article published on August 2002

Distinct roles of BRCA2 in replication fork protection in response to hydroxyurea and DNA interstrand cross-links

scientific article published on 30 April 2020

Effect of fondaparinux on coagulation assays: results of College of American Pathologists proficiency testing

scientific article published on 01 November 2006

Esophageal Cancer as initial presentation of Fanconi anemia in patients with a hypomorphic FANCA variant

scientific article published on 10 November 2020

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

scientific article

FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair

scientific article

FANCI phosphorylation functions as a molecular switch to turn on the Fanconi anemia pathway

scientific article published on 19 October 2008

Fan1 deficiency results in DNA interstrand cross-link repair defects, enhanced tissue karyomegaly, and organ dysfunction

scientific article published on March 2016

Fanconi anaemia and the repair of Watson and Crick DNA crosslinks

scientific article

Genetic interrogation of replicative senescence uncovers a dual role for USP28 in coordinating the p53 and GATA4 branches of the senescence program

scientific article published in October 2017

Homologous recombination generates T-loop-sized deletions at human telomeres

scientific journal article

Human GEN1 and the SLX4-associated nucleases MUS81 and SLX1 are essential for the resolution of replication-induced Holliday junctions

scientific article

Human telomeres contain two distinct Myb-related proteins, TRF1 and TRF2

scientific article

Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair

scientific article

Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency

scientific article published on 17 April 2017

Mammalian BTBD12/SLX4 assembles a Holliday junction resolvase and is required for DNA repair

scientific article

Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.

scientific article published on 23 April 2013

Mutations of the SLX4 gene in Fanconi anemia

scientific article

Natural history and management of Fanconi anemia patients with head and neck cancer: A 10-year follow-up

scientific article published on 20 October 2015

Noncovalent interactions with SUMO and ubiquitin orchestrate distinct functions of the SLX4 complex in genome maintenance

scientific article

Paraprotein interference in automated chemistry analyzers

scientific article

Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency

scientific article published on 22 February 2012

Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia

scientific article published on 3 February 2016

Polybromo-associated BRG1-associated factor components BRD7 and BAF180 are critical regulators of p53 required for induction of replicative senescence

scientific article

Postmortem urine immunoassay showing false-positive phencyclidine reactivity in a case of fatal tramadol overdose

scientific article published on 01 December 2006

Postoperative clinical radiosensitivity in patients with fanconi anemia and head and neck squamous cell carcinoma

scientific article

Regulation of multiple DNA repair pathways by the Fanconi anemia protein SLX4.

scientific article published on 23 October 2012

Regulation of telomerase by telomeric proteins

scientific article (publication date: 2004)

Removal of RTF2 from Stalled Replisomes Promotes Maintenance of Genome Integrity.

scientific article published on 15 December 2017

S. pombe Uba1-Ubc15 Structure Reveals a Novel Regulatory Mechanism of Ubiquitin E2 Activity.

scientific article published on 28 January 2017

Senescence Induced by Altered Telomere State, Not Telomere Loss

scientific article

SnapShot: Fanconi anemia and associated proteins.

scientific article

Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype.

scientific article published on 30 November 2017

Structure of the FANCI-FANCD2 Complex: Insights into the Fanconi Anemia DNA Repair Pathway

scientific article

Suppression of non-homologous end joining does not rescue DNA repair defects in Fanconi anemia patient cells

scientific article published on 30 August 2020

TRF2 Protects Human Telomeres from End-to-End Fusions

scientific journal article

The Fanconi anemia pathway promotes replication-dependent DNA interstrand cross-link repair

scientific article

Transcriptional Silencing of <i>ALDH2</i> Confers a Dependency on Fanconi Anemia Proteins in Acute Myeloid Leukemia

publication published on 23 April 2021

Transfusion medicine illustrated. Volume-reduced apheresis platelets

scientific article published on 01 May 2005

Ubiquitylation and the Fanconi anemia pathway

scientific article published on 19 May 2011

Whole-Exome Sequencing of Metastatic Cancer and Biomarkers of Treatment Response.

scientific article published in July 2015

List of works by Agata Smogorzewska

A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination

A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.

A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India

A genetic screen identifies FAN1, a Fanconi anemia-associated nuclease necessary for DNA interstrand crosslink repair

A genome-wide homologous recombination screen identifies the RNA-binding protein RBMX as a component of the DNA-damage response

ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage

Abraxas and RAP80 form a BRCA1 protein complex required for the DNA damage response

Advances in understanding DNA processing and protection at stalled replication forks

Assessment of SLX4 Mutations in Hereditary Breast Cancers

Association of clinical severity with FANCB variant type in Fanconi anemia

Cancer proliferation gene discovery through functional genomics.

Cell fitness screens reveal a conflict between LINE-1 retrotransposition and DNA replication

Chromosome instability syndromes.

Comparison of the clinical phenotype and haematological course of siblings with Fanconi anaemia

Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes

Control of human telomere length by TRF1 and TRF2

Corrigendum: Genetic interrogation of replicative senescence uncovers a dual role for USP28 in coordinating the p53 and GATA4 branches of the senescence program

DNA damage foci at dysfunctional telomeres

DNA ligase IV-dependent NHEJ of deprotected mammalian telomeres in G1 and G2

DNA repair. Mechanism of DNA interstrand cross-link processing by repair nuclease FAN1

Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia

Different telomere damage signaling pathways in human and mouse cells

Distinct roles of BRCA2 in replication fork protection in response to hydroxyurea and DNA interstrand cross-links

Effect of fondaparinux on coagulation assays: results of College of American Pathologists proficiency testing

Esophageal Cancer as initial presentation of Fanconi anemia in patients with a hypomorphic FANCA variant

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair

FANCI phosphorylation functions as a molecular switch to turn on the Fanconi anemia pathway

Fan1 deficiency results in DNA interstrand cross-link repair defects, enhanced tissue karyomegaly, and organ dysfunction

Fanconi anaemia and the repair of Watson and Crick DNA crosslinks

Genetic interrogation of replicative senescence uncovers a dual role for USP28 in coordinating the p53 and GATA4 branches of the senescence program

Homologous recombination generates T-loop-sized deletions at human telomeres

Human GEN1 and the SLX4-associated nucleases MUS81 and SLX1 are essential for the resolution of replication-induced Holliday junctions

Human telomeres contain two distinct Myb-related proteins, TRF1 and TRF2

Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair

Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency

Mammalian BTBD12/SLX4 assembles a Holliday junction resolvase and is required for DNA repair

Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.

Mutations of the SLX4 gene in Fanconi anemia

Natural history and management of Fanconi anemia patients with head and neck cancer: A 10-year follow-up

Noncovalent interactions with SUMO and ubiquitin orchestrate distinct functions of the SLX4 complex in genome maintenance

Paraprotein interference in automated chemistry analyzers

Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency

Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia

Polybromo-associated BRG1-associated factor components BRD7 and BAF180 are critical regulators of p53 required for induction of replicative senescence

Postmortem urine immunoassay showing false-positive phencyclidine reactivity in a case of fatal tramadol overdose

Postoperative clinical radiosensitivity in patients with fanconi anemia and head and neck squamous cell carcinoma

Regulation of multiple DNA repair pathways by the Fanconi anemia protein SLX4.

Regulation of telomerase by telomeric proteins

Removal of RTF2 from Stalled Replisomes Promotes Maintenance of Genome Integrity.

S. pombe Uba1-Ubc15 Structure Reveals a Novel Regulatory Mechanism of Ubiquitin E2 Activity.

Senescence Induced by Altered Telomere State, Not Telomere Loss

SnapShot: Fanconi anemia and associated proteins.

Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype.

Structure of the FANCI-FANCD2 Complex: Insights into the Fanconi Anemia DNA Repair Pathway

Suppression of non-homologous end joining does not rescue DNA repair defects in Fanconi anemia patient cells

Suppression of non-homologous end joining does not rescue DNA repair defects in Fanconi anemia patient cells

TRF2 Protects Human Telomeres from End-to-End Fusions

The Fanconi anemia pathway promotes replication-dependent DNA interstrand cross-link repair

Transcriptional Silencing of <i>ALDH2</i> Confers a Dependency on Fanconi Anemia Proteins in Acute Myeloid Leukemia

Transfusion medicine illustrated. Volume-reduced apheresis platelets

Ubiquitylation and the Fanconi anemia pathway

Whole-Exome Sequencing of Metastatic Cancer and Biomarkers of Treatment Response.