Lista de obras - Marc-Henri Stern - Dominio Público Uruguay

A DNA methylation-based liquid biopsy for triple-negative breast cancer

artículo científico publicado en 2021

A common alternative splicing signature is associated with SF3B1 mutations in malignancies from different cell lineages.

artículo científico publicado en 2014

A complex pattern of recurrent chromosomal losses and gains in T-cell prolymphocytic leukemia

artículo científico publicado en 2001

A single droplet digital PCR for ESR1 activating mutations detection in plasma

artículo científico publicado en 2020

ART-DeCo: easy tool for detection and characterization of cross-contamination of DNA samples in diagnostic next-generation sequencing analysis

artículo científico publicado en 2019

ATM Gene Mutation Detection Techniques and Functional Analysis.

artículo científico publicado en 2017

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

artículo científico publicado en 2018

Alternative origin of p13MTCP1-encoding transcripts in mature T-cell proliferations with t(X;14) translocations

artículo científico publicado en 1997

BRCAness, SLFN11, and RB1 loss predict response to topoisomerase I inhibitors in triple-negative breast cancers

artículo científico publicado en 2020

Cancer-associated SF3B1 mutations affect alternative splicing by promoting alternative branchpoint usage

artículo científico publicado en 2016

Circulating Tumor Cells and Circulating Tumor DNA Detection in Potentially Resectable Metastatic Colorectal Cancer: A Prospective Ancillary Study to the Unicancer Prodige-14 Trial

artículo científico publicado en 2019

Circulating tumor DNA and circulating tumor cells in metastatic triple negative breast cancer patients

artículo científico

Circulating tumor DNA as a non-invasive substitute to metastasis biopsy for tumor genotyping and personalized medicine in a prospective trial across all tumor types

artículo científico publicado en 2014

Circulating tumor DNA for triple-negative breast cancer diagnosis and treatment decisions

artículo científico publicado en 2015

Comprehensive Analysis of Alternative Splicing Across Tumors from 8,705 Patients

artículo científico

Comprehensive Characterization of Cancer Driver Genes and Mutations

article

Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide

artículo científico publicado en 2018

Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers

artículo científico publicado en 2017

Corrections: Reinstated p53 response and high anti-T-cell leukemia activity by the novel alkylating deacetylase inhibitor tinostamustine

artículo científico publicado en 2020

Corrigendum: metastatic breast carcinomas display genomic and transcriptomic heterogeneity

scientific article published on 01 April 2015

Crystal structure of p14TCL1, an oncogene product involved in T-cell prolymphocytic leukemia, reveals a novel beta-barrel topology

artículo científico publicado en 1998

DNA repair functional analyses of NBN hypomorphic variants associated with NBN-related infertility

scientific article published on 28 November 2019

Designs and challenges for personalized medicine studies in oncology: focus on the SHIVA trial.

artículo científico publicado en 2012

Detection rate and prognostic value of circulating tumor cells and circulating tumor DNA in metastatic uveal melanoma

artículo científico

Evolutionary Routes in Metastatic Uveal Melanomas Depend on MBD4 Alterations

scientific article published on 21 June 2019

First description of a sporadic breast cancer in a woman with BRCA1 germline mutation

artículo científico publicado en 2015

Frequent PTEN genomic alterations and activated phosphatidylinositol 3-kinase pathway in basal-like breast cancer cells

artículo científico publicado en 2008

Functional classification of ATM variants in ataxia-telangiectasia patients

artículo científico publicado en 2019

Functional subdivision of HLA-DRw8 with influenza-specific cloned cell lines

artículo científico publicado en 1985

Genetic alterations of SUGP1 mimic mutant-SF3B1 splice pattern in lung adenocarcinoma and other cancers

scientific article published on 14 October 2020

Genomic hallmarks of homologous recombination deficiency in invasive breast carcinomas.

artículo científico publicado en 2015

Germline BAP1 mutations predispose to renal cell carcinomas

artículo científico publicado en 2013

Germline mutation in the RAD51B gene confers predisposition to breast cancer

artículo científico publicado en 2013

Glycolysis Dependency as a Hallmark of <i>SF3B1</i>-Mutated Cells

artículo científico publicado en 2022

High frequency of TP53 mutation in BRCA1 and sporadic basal-like carcinomas but not in BRCA1 luminal breast tumors

artículo científico publicado en 2009

Histo-genomic stratification reveals the frequent amplification/overexpression of CCNE1 and BRD4 genes in non-BRCAness high grade ovarian carcinoma

artículo científico publicado en 2015

Hybrid T cell receptor genes formed by interlocus recombination in normal and ataxia-telangiectasis lymphocytes ⬇️

artículo científico publicado el 1 de agosto de 1990

Identification of Akt association and oligomerization domains of the Akt kinase coactivator TCL1

artículo científico publicado en 2002

JUN oncogene amplification and overexpression block adipocytic differentiation in highly aggressive sarcomas

artículo científico publicado en 2007

Lack of evidence for CDK12 as an ovarian cancer predisposing gene

artículo científico publicado en 2020

Leukemic phase of follicular lymphomas: an atypical presentation.

artículo científico publicado en 2011

Location of Mutation in BRCA2 Gene and Survival in Patients with Ovarian Cancer.

artículo científico publicado en 2017

Loss of heterozygosity at 13q13 and 14q32 predicts BRCA2 inactivation in luminal breast carcinomas

artículo científico publicado en 2013

Mapping of human chromosome 22 by in situ hybridization.

artículo científico publicado en 1990

Medullary Breast Carcinoma, a Triple-Negative Breast Cancer Associated with BCLG Overexpression

artículo científico publicado en 2018

Metaplastic breast carcinomas display genomic and transcriptomic heterogeneity [corrected]. .

artículo científico publicado en 2014

Molecular allelokaryotyping of T-cell prolymphocytic leukemia cells with high density single nucleotide polymorphism arrays identifies novel common genomic lesions and acquired uniparental disomy

artículo científico publicado en 2009

Molecular analysis of the mature T cell proliferation-1 (MTCP-1) gene in Xq28-linked incontinentia pigmenti

scientific article published on 01 April 2000

Molecular characterization of ataxia telangiectasia T cell clones. II. The clonal inv(14) in ataxia telangiectasia differs from the inv(14) in T cell lymphoma

artículo científico publicado en 1988

Molecular characterization of ataxia telangiectasia T cell clones. III. Mapping the 14q32.1 distal breakpoint

artículo científico publicado en 1988

Molecular characterization of different ataxia telangiectasia T-cell clones. I. A common breakpoint at the 14q11.2 band splits the T-cell receptor alpha-chain gene

artículo científico publicado en 1988

Mutation in TTI2 reveals a role for triple T complex in human brain development

artículo científico publicado en 2013

Outlier response to anti-PD1 in uveal melanoma reveals germline MBD4 mutations in hypermutated tumors.

artículo científico publicado en 2018

Ovarian Cancers Harboring Inactivating Mutations in CDK12 Display a Distinct Genomic Instability Pattern Characterized by Large Tandem Duplications.

artículo científico publicado en 2016

Oxidative stress promotes myofibroblast differentiation and tumour spreading

artículo científico publicado en 2010

Patient-derived xenografts recapitulate molecular features of human uveal melanomas

artículo científico publicado en 2013

Ploidy and large-scale genomic instability consistently identify basal-like breast carcinomas with BRCA1/2 inactivation

artículo científico publicado en 2012

Polarity gene alterations in pure invasive micropapillary carcinomas of the breast

artículo científico publicado en 2014

Pre-TCR expression cooperates with TEL-JAK2 to transform immature thymocytes and induce T-cell leukemia.

artículo científico publicado en 2006

Prospective validation in epithelial tumors of a gene expression predictor of liver metastasis derived from uveal melanoma

scientific article published on 20 November 2019

Proteomic analysis of BRCA1-depleted cell line reveals a putative role for replication protein A2 up-regulation in BRCA1 breast tumor development

artículo científico publicado en 2010

Pyrophosphorolysis-activated polymerization detects circulating tumor DNA in metastatic uveal melanoma.

artículo científico publicado en 2012

Recurrent JAK1 and JAK3 somatic mutations in T-cell prolymphocytic leukemia.

artículo científico publicado en 2013

Refined solution structure and backbone dynamics of 15N-labeled C12A-p8MTCP1 studied by NMR relaxation

artículo científico publicado en 1999

Reinstated p53 response and high anti-T-cell leukemia activity by the novel alkylating deacetylase inhibitor tinostamustine

artículo científico publicado en 2020

SF3B1 mutations are associated with alternative splicing in uveal melanoma

artículo científico publicado en 2013

STAT3 mutations identified in human hematologic neoplasms induce myeloid malignancies in a mouse bone marrow transplantation model.

artículo científico publicado en 2013

ShallowHRD: Detection of Homologous Recombination Deficiency from shallow Whole Genome Sequencing

artículo científico publicado en 2020

So Close, yet so Far: Discrepancies between Uveal and Other Melanomas. A Position Paper from UM Cure 2020

scientific article published on 22 July 2019

Solution structure and backbone dynamics of the pleckstrin homology domain of the human protein kinase B (PKB/Akt). Interaction with inositol phosphates

artículo científico publicado en 2004

Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model

artículo científico publicado en 2013

Structural basis for the co-activation of protein kinase B by T-cell leukemia-1 (TCL1) family proto-oncoproteins.

artículo científico publicado en 2004

Syntenic relationships between genomic profiles of fiber-induced murine and human malignant mesothelioma

artículo científico publicado en 2011

TCL1 oncogene expression in AIDS-related lymphomas and lymphoid tissues.

artículo científico publicado en 1999

TET2 Inactivation Results in Pleiotropic Hematopoietic Abnormalities in Mouse and Is a Recurrent Event during Human Lymphomagenesis

TET2 inactivation results in pleiotropic hematopoietic abnormalities in mouse and is a recurrent event during human lymphomagenesis

scientific journal article

The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma

article

The MTCP1 oncogene modifies T-cell homeostasis before leukemogenesis in transgenic mice.

artículo científico publicado en 2006

The TCL1 oncoprotein inhibits activation-induced cell death by impairing PKCtheta and ERK pathways.

artículo científico publicado en 2007

The TCL1A oncoprotein interacts directly with the NF-kappaB inhibitor IkappaB.

artículo científico publicado en 2009

The inactive X chromosome is epigenetically unstable and transcriptionally labile in breast cancer

artículo científico publicado en 2015

The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia

artículo científico publicado en 2014

Three new cases of ataxia-telangiectasia-like disorder: No impairment of the ATM pathway, but S-phase checkpoint defect

artículo científico publicado en 2019

Ultraviolet radiation drives mutations in a subset of mucosal melanomas

artículo científico publicado en 2021

Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations

artículo científico publicado en 2011

Upcoming translational challenges for uveal melanoma

artículo científico publicado en 2015

VAMP: visualization and analysis of array-CGH, transcriptome and other molecular profiles

artículo científico publicado en 2006

X inactive-specific transcript RNA coating and genetic instability of the X chromosome in BRCA1 breast tumors

artículo científico publicado en 2007

[Cancer genetic predisposition: current events and perspectives in 2010]

artículo científico publicado en 2010

Lista de obras de Marc-Henri Stern

A DNA methylation-based liquid biopsy for triple-negative breast cancer

A common alternative splicing signature is associated with SF3B1 mutations in malignancies from different cell lineages.

A complex pattern of recurrent chromosomal losses and gains in T-cell prolymphocytic leukemia

A single droplet digital PCR for ESR1 activating mutations detection in plasma

ART-DeCo: easy tool for detection and characterization of cross-contamination of DNA samples in diagnostic next-generation sequencing analysis

ATM Gene Mutation Detection Techniques and Functional Analysis.

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Alternative origin of p13MTCP1-encoding transcripts in mature T-cell proliferations with t(X;14) translocations

BRCAness, SLFN11, and RB1 loss predict response to topoisomerase I inhibitors in triple-negative breast cancers

Cancer-associated SF3B1 mutations affect alternative splicing by promoting alternative branchpoint usage

Circulating Tumor Cells and Circulating Tumor DNA Detection in Potentially Resectable Metastatic Colorectal Cancer: A Prospective Ancillary Study to the Unicancer Prodige-14 Trial

Circulating tumor DNA and circulating tumor cells in metastatic triple negative breast cancer patients

Circulating tumor DNA as a non-invasive substitute to metastasis biopsy for tumor genotyping and personalized medicine in a prospective trial across all tumor types

Circulating tumor DNA for triple-negative breast cancer diagnosis and treatment decisions

Comprehensive Analysis of Alternative Splicing Across Tumors from 8,705 Patients

Comprehensive Characterization of Cancer Driver Genes and Mutations

Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide

Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers

Corrections: Reinstated p53 response and high anti-T-cell leukemia activity by the novel alkylating deacetylase inhibitor tinostamustine

Corrigendum: metastatic breast carcinomas display genomic and transcriptomic heterogeneity

Crystal structure of p14TCL1, an oncogene product involved in T-cell prolymphocytic leukemia, reveals a novel beta-barrel topology

DNA repair functional analyses of NBN hypomorphic variants associated with NBN-related infertility

Designs and challenges for personalized medicine studies in oncology: focus on the SHIVA trial.

Detection rate and prognostic value of circulating tumor cells and circulating tumor DNA in metastatic uveal melanoma

Evolutionary Routes in Metastatic Uveal Melanomas Depend on MBD4 Alterations

First description of a sporadic breast cancer in a woman with BRCA1 germline mutation

Frequent PTEN genomic alterations and activated phosphatidylinositol 3-kinase pathway in basal-like breast cancer cells

Functional classification of ATM variants in ataxia-telangiectasia patients

Functional subdivision of HLA-DRw8 with influenza-specific cloned cell lines

Genetic alterations of SUGP1 mimic mutant-SF3B1 splice pattern in lung adenocarcinoma and other cancers

Genomic hallmarks of homologous recombination deficiency in invasive breast carcinomas.

Germline BAP1 mutations predispose to renal cell carcinomas

Germline mutation in the RAD51B gene confers predisposition to breast cancer

Glycolysis Dependency as a Hallmark of <i>SF3B1</i>-Mutated Cells

High frequency of TP53 mutation in BRCA1 and sporadic basal-like carcinomas but not in BRCA1 luminal breast tumors

Histo-genomic stratification reveals the frequent amplification/overexpression of CCNE1 and BRD4 genes in non-BRCAness high grade ovarian carcinoma

Hybrid T cell receptor genes formed by interlocus recombination in normal and ataxia-telangiectasis lymphocytes ⬇️

Identification of Akt association and oligomerization domains of the Akt kinase coactivator TCL1

JUN oncogene amplification and overexpression block adipocytic differentiation in highly aggressive sarcomas

Lack of evidence for CDK12 as an ovarian cancer predisposing gene

Leukemic phase of follicular lymphomas: an atypical presentation.

Location of Mutation in BRCA2 Gene and Survival in Patients with Ovarian Cancer.

Loss of heterozygosity at 13q13 and 14q32 predicts BRCA2 inactivation in luminal breast carcinomas

Mapping of human chromosome 22 by in situ hybridization.

Medullary Breast Carcinoma, a Triple-Negative Breast Cancer Associated with BCLG Overexpression

Metaplastic breast carcinomas display genomic and transcriptomic heterogeneity [corrected]. .

Molecular allelokaryotyping of T-cell prolymphocytic leukemia cells with high density single nucleotide polymorphism arrays identifies novel common genomic lesions and acquired uniparental disomy

Molecular analysis of the mature T cell proliferation-1 (MTCP-1) gene in Xq28-linked incontinentia pigmenti

Molecular characterization of ataxia telangiectasia T cell clones. II. The clonal inv(14) in ataxia telangiectasia differs from the inv(14) in T cell lymphoma

Molecular characterization of ataxia telangiectasia T cell clones. III. Mapping the 14q32.1 distal breakpoint

Molecular characterization of different ataxia telangiectasia T-cell clones. I. A common breakpoint at the 14q11.2 band splits the T-cell receptor alpha-chain gene

Mutation in TTI2 reveals a role for triple T complex in human brain development

Outlier response to anti-PD1 in uveal melanoma reveals germline MBD4 mutations in hypermutated tumors.

Ovarian Cancers Harboring Inactivating Mutations in CDK12 Display a Distinct Genomic Instability Pattern Characterized by Large Tandem Duplications.

Oxidative stress promotes myofibroblast differentiation and tumour spreading

Patient-derived xenografts recapitulate molecular features of human uveal melanomas

Ploidy and large-scale genomic instability consistently identify basal-like breast carcinomas with BRCA1/2 inactivation

Polarity gene alterations in pure invasive micropapillary carcinomas of the breast

Pre-TCR expression cooperates with TEL-JAK2 to transform immature thymocytes and induce T-cell leukemia.

Prospective validation in epithelial tumors of a gene expression predictor of liver metastasis derived from uveal melanoma

Proteomic analysis of BRCA1-depleted cell line reveals a putative role for replication protein A2 up-regulation in BRCA1 breast tumor development

Pyrophosphorolysis-activated polymerization detects circulating tumor DNA in metastatic uveal melanoma.

Recurrent JAK1 and JAK3 somatic mutations in T-cell prolymphocytic leukemia.

Refined solution structure and backbone dynamics of 15N-labeled C12A-p8MTCP1 studied by NMR relaxation

Reinstated p53 response and high anti-T-cell leukemia activity by the novel alkylating deacetylase inhibitor tinostamustine

SF3B1 mutations are associated with alternative splicing in uveal melanoma

STAT3 mutations identified in human hematologic neoplasms induce myeloid malignancies in a mouse bone marrow transplantation model.

ShallowHRD: Detection of Homologous Recombination Deficiency from shallow Whole Genome Sequencing

So Close, yet so Far: Discrepancies between Uveal and Other Melanomas. A Position Paper from UM Cure 2020

Solution structure and backbone dynamics of the pleckstrin homology domain of the human protein kinase B (PKB/Akt). Interaction with inositol phosphates

Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model

Structural basis for the co-activation of protein kinase B by T-cell leukemia-1 (TCL1) family proto-oncoproteins.

Syntenic relationships between genomic profiles of fiber-induced murine and human malignant mesothelioma

TCL1 oncogene expression in AIDS-related lymphomas and lymphoid tissues.

TET2 Inactivation Results in Pleiotropic Hematopoietic Abnormalities in Mouse and Is a Recurrent Event during Human Lymphomagenesis

TET2 inactivation results in pleiotropic hematopoietic abnormalities in mouse and is a recurrent event during human lymphomagenesis

The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma

The MTCP1 oncogene modifies T-cell homeostasis before leukemogenesis in transgenic mice.

The TCL1 oncoprotein inhibits activation-induced cell death by impairing PKCtheta and ERK pathways.