Lista de obras - Agata Smogorzewska - Dominio Público Uruguay

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.

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 2007

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

artículo científico publicado en 2007

Advances in understanding DNA processing and protection at stalled replication forks

artículo científico publicado en 2019

Assessment of SLX4 Mutations in Hereditary Breast Cancers

artículo científico publicado en 2013

Association of clinical severity with FANCB variant type in Fanconi anemia

artículo científico publicado en 2020

Cancer proliferation gene discovery through functional genomics.

artículo científico publicado en 2008

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

artículo científico publicado en 2020

Chromosome instability syndromes.

artículo científico publicado en 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

artículo científico publicado en 2014

Control of human telomere length by TRF1 and TRF2

artículo científico publicado en 2000

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

artículo científico publicado en 2017

DNA damage foci at dysfunctional telomeres

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

Different telomere damage signaling pathways in human and mouse cells

artículo científico publicado en 2002

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

artículo científico publicado en 2020

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

artículo científico publicado en 2006

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

artículo científico publicado en 2020

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 2008

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

artículo científico publicado en 2016

Fanconi anaemia and the repair of Watson and Crick DNA crosslinks

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 1997

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

artículo científico publicado en 2007

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

artículo científico publicado en 2017

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

artículo científico publicado en 2009

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

artículo científico publicado en 2013

Mutations of the SLX4 gene in Fanconi anemia

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

Paraprotein interference in automated chemistry analyzers

artículo científico publicado en 2004

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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2010

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

artículo científico publicado en 2006

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

artículo científico publicado en 2011

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

artículo científico publicado en 2012

Regulation of telomerase by telomeric proteins

artículo científico publicado en 2004

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

Senescence Induced by Altered Telomere State, Not Telomere Loss

artículo científico publicado en 2002

SnapShot: Fanconi anemia and associated proteins.

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico publicado en 2009

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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

Lista de obras de 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.