Lista de obras - Ignacio Varela - Dominio Público Uruguay

A Truncated Variant of ASCC1, a Novel Inhibitor of NF-κB, Is Associated with Disease Severity in Patients with Rheumatoid Arthritis

artículo científico publicado en 2015

A comprehensive catalogue of somatic mutations from a human cancer genome

artículo científico publicado en 2010

A conditional piggyBac transposition system for genetic screening in mice identifies oncogenic networks in pancreatic cancer

artículo científico publicado en 2014

A functional variant of TLR10 modifies the activity of NFkB and may help predict a worse prognosis in patients with rheumatoid arthritis.

scientific article published on 04 October 2016

A genetic progression model of Braf(V600E)-induced intestinal tumorigenesis reveals targets for therapeutic intervention.

artículo científico publicado en 2013

A next-generation dual-recombinase system for time- and host-specific targeting of pancreatic cancer

artículo científico publicado en 2014

A novel mutation in ADAMTS13 of a child with Upshaw-Schulman Syndrome

scientific article published on 24 July 2014

A small-cell lung cancer genome with complex signatures of tobacco exposure

artículo científico publicado en 2010

ARID2 deficiency promotes tumor progression and is associated with higher sensitivity to chemotherapy in lung cancer

artículo científico publicado en 2021

Abstract 983: Intratumor heterogeneity in non-small cell lung cancer inferred by multi-region exome sequencing

Accelerated ageing in mice deficient in Zmpste24 protease is linked to p53 signalling activation.

artículo científico publicado en 2005

Aging and chronic DNA damage response activate a regulatory pathway involving miR-29 and p53.

artículo científico publicado en 2011

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

artículo científico publicado en 2014

Analysis of the mutational landscape of classic Hodgkin lymphoma identifies disease heterogeneity and potential therapeutic targets

artículo científico publicado en 2017

Analysis pipelines for cancer genome sequencing in mice

artículo científico publicado en 2020

AtFACE-2, a functional prenylated protein protease from Arabidopsis thaliana related to mammalian Ras-converting enzymes.

artículo científico publicado en 2003

CD133-directed CAR T-cells for MLL leukemia: on-target, off-tumor myeloablative toxicity

article

CRISPR/Cas9 somatic multiplex-mutagenesis for high-throughput functional cancer genomics in mice

artículo científico publicado en 2015

Characterization of gene mutations and copy number changes in acute myeloid leukemia using a rapid target enrichment protocol

artículo científico publicado en 2014

Clonal haematopoiesis is not prevalent in survivors of childhood cancer.

artículo científico publicado en 2017

Colorectal adenomas contain multiple somatic mutations that do not coincide with synchronous adenocarcinoma specimens

artículo científico publicado en 2015

Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging.

artículo científico publicado en 2008

Complex landscapes of somatic rearrangement in human breast cancer genomes

artículo científico publicado en 2009

Correction: Colorectal adenomas contain multiple somatic mutations that do not coincide with synchronous adenocarcinoma specimens.

artículo científico publicado en 2015

Corrigendum: Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma

artículo científico publicado en 2012

Detailed molecular characterisation of acute myeloid leukaemia with a normal karyotype using targeted DNA capture

artículo científico publicado en 2013

Development Refractoriness of MLL-Rearranged Human B Cell Acute Leukemias to Reprogramming into Pluripotency.

scientific article published on 20 September 2016

Development and validation of a comprehensive genomic diagnostic tool for myeloid malignancies

artículo científico publicado en 2016

Development of synchronous VHL syndrome tumors reveals contingencies and constraints to tumor evolution

artículo científico publicado en 2014

Evaluation of Toll-like-receptor gene family variants as prognostic biomarkers in rheumatoid arthritis

artículo científico publicado en 2017

Evolutionary routes and KRAS dosage define pancreatic cancer phenotypes

artículo científico publicado en 2018

Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma

artículo científico publicado en 2011

From immature lamin to premature aging: molecular pathways and therapeutic opportunities.

artículo científico publicado en 2005

Genomic architecture and evolution of clear cell renal cell carcinomas defined by multiregion sequencing

artículo científico publicado en 2014

HDAC7 is a major contributor in the pathogenesis of infant t(4;11) proB acute lymphoblastic leukemia

artículo científico publicado en 2020

Human progeroid syndromes, aging and cancer: new genetic and epigenetic insights into old questions

artículo científico publicado en 2007

Identification of a germline F692L drug resistance variant in cis with Flt3-internal tandem duplication in knock-in mice

artículo científico publicado en 2016

Identification, functional expression and enzymic analysis of two distinct CaaX proteases from Caenorhabditis elegans.

artículo científico publicado en 2003

Individualized strategies to target specific mechanisms of disease in malignant melanoma patients displaying unique mutational signatures

artículo científico publicado en 2015

Inflammatory and immune response genes have significantly altered expression in schizophrenia.

artículo científico publicado en 2012

Intratumor Heterogeneity and Branched Evolution Revealed by Multiregion Sequencing

artículo científico publicado en 2012

Intratumoral heterogeneity and clonal evolution in blood malignancies and solid tumors

artículo científico publicado en 2017

Leukemia-associated somatic mutations drive distinct patterns of age-related clonal hemopoiesis

artículo científico publicado en 2015

Massive genomic rearrangement acquired in a single catastrophic event during cancer development

artículo científico publicado en 2011

Microcephalia with mandibular and dental dysplasia in adult Zmpste24-deficient mice.

artículo científico publicado en 2008

Molecular synergy underlies the co-occurrence patterns and phenotype of NPM1-mutant acute myeloid leukemia

artículo científico

Multiplexed pancreatic genome engineering and cancer induction by transfection-based CRISPR/Cas9 delivery in mice

artículo científico publicado en 2016

Mutational processes molding the genomes of 21 breast cancers

artículo científico publicado en 2012

Nuclear envelope alterations generate an aging-like epigenetic pattern in mice deficient in Zmpste24 metalloprotease

Nuclear envelope defects cause stem cell dysfunction in premature-aging mice

artículo científico publicado en 2008

PLCG1 mutations in cutaneous T-cell lymphomas

artículo científico publicado en 2014

Premature aging in mice activates a systemic metabolic response involving autophagy induction.

artículo científico publicado en 2008

Rapid parallel acquisition of somatic mutations afterNPM1in acute myeloid leukaemia evolution

Recurrent chromosomal gains and heterogeneous driver mutations characterise papillary renal cancer evolution

artículo científico publicado en 2015

Shared Oncogenic Pathways Implicated in Both Virus-Positive and UV-Induced Merkel Cell Carcinomas.

artículo científico publicado en 2016

Sin3b interacts with Myc and decreases Myc levels

artículo científico publicado en 2014

Somatic Mutations Reveal Lineage Relationships and Age-Related Mutagenesis in Human Hematopoiesis

article published in 2018

Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts

artículo científico publicado en 2011

Somatic structural rearrangements in genetically engineered mouse mammary tumors

artículo científico publicado en 2010

Spatial and temporal diversity in genomic instability processes defines lung cancer evolution

artículo científico publicado en 2014

Splicing-Directed Therapy in a New Mouse Model of Human Accelerated Aging

article

Targeted gene correction of α1-antitrypsin deficiency in induced pluripotent stem cells

artículo científico publicado en 2011

The E3 ligase RNF43 inhibits Wnt signaling downstream of mutated β-catenin by sequestering TCF4 to the nuclear membrane

artículo científico publicado en 2015

The Life History of 21 Breast Cancers

The landscape of cancer genes and mutational processes in breast cancer

artículo científico publicado en 2012

The life history of 21 breast cancers

artículo científico publicado en 2012

The patterns and dynamics of genomic instability in metastatic pancreatic cancer

artículo científico publicado en 2010

UTX-mediated enhancer and chromatin remodeling suppresses myeloid leukemogenesis through noncatalytic inverse regulation of ETS and GATA programs

artículo científico publicado en 2018

V617F hematopoietic clones are present several years prior to MPN diagnosis and follow different expansion kinetics

artículo científico publicado en 2017

Whole exome sequencing of adenoid cystic carcinoma

scientific article published on 17 June 2013

Whole-exome sequencing in splenic marginal zone lymphoma reveals mutations in genes involved in marginal zone differentiation.

artículo científico publicado en 2013

Lista de obras de Ignacio Varela

A Truncated Variant of ASCC1, a Novel Inhibitor of NF-κB, Is Associated with Disease Severity in Patients with Rheumatoid Arthritis

A comprehensive catalogue of somatic mutations from a human cancer genome

A conditional piggyBac transposition system for genetic screening in mice identifies oncogenic networks in pancreatic cancer

A functional variant of TLR10 modifies the activity of NFkB and may help predict a worse prognosis in patients with rheumatoid arthritis.

A genetic progression model of Braf(V600E)-induced intestinal tumorigenesis reveals targets for therapeutic intervention.

A next-generation dual-recombinase system for time- and host-specific targeting of pancreatic cancer

A novel mutation in ADAMTS13 of a child with Upshaw-Schulman Syndrome

A small-cell lung cancer genome with complex signatures of tobacco exposure

ARID2 deficiency promotes tumor progression and is associated with higher sensitivity to chemotherapy in lung cancer

Abstract 983: Intratumor heterogeneity in non-small cell lung cancer inferred by multi-region exome sequencing

Accelerated ageing in mice deficient in Zmpste24 protease is linked to p53 signalling activation.

Aging and chronic DNA damage response activate a regulatory pathway involving miR-29 and p53.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Analysis of the mutational landscape of classic Hodgkin lymphoma identifies disease heterogeneity and potential therapeutic targets

Analysis pipelines for cancer genome sequencing in mice

AtFACE-2, a functional prenylated protein protease from Arabidopsis thaliana related to mammalian Ras-converting enzymes.

CD133-directed CAR T-cells for MLL leukemia: on-target, off-tumor myeloablative toxicity

CRISPR/Cas9 somatic multiplex-mutagenesis for high-throughput functional cancer genomics in mice

Characterization of gene mutations and copy number changes in acute myeloid leukemia using a rapid target enrichment protocol

Clonal haematopoiesis is not prevalent in survivors of childhood cancer.

Colorectal adenomas contain multiple somatic mutations that do not coincide with synchronous adenocarcinoma specimens

Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging.

Complex landscapes of somatic rearrangement in human breast cancer genomes

Correction: Colorectal adenomas contain multiple somatic mutations that do not coincide with synchronous adenocarcinoma specimens.

Corrigendum: Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma

Detailed molecular characterisation of acute myeloid leukaemia with a normal karyotype using targeted DNA capture

Development Refractoriness of MLL-Rearranged Human B Cell Acute Leukemias to Reprogramming into Pluripotency.

Development and validation of a comprehensive genomic diagnostic tool for myeloid malignancies

Development of synchronous VHL syndrome tumors reveals contingencies and constraints to tumor evolution

Evaluation of Toll-like-receptor gene family variants as prognostic biomarkers in rheumatoid arthritis

Evolutionary routes and KRAS dosage define pancreatic cancer phenotypes

Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma

From immature lamin to premature aging: molecular pathways and therapeutic opportunities.

Genomic architecture and evolution of clear cell renal cell carcinomas defined by multiregion sequencing

HDAC7 is a major contributor in the pathogenesis of infant t(4;11) proB acute lymphoblastic leukemia

Human progeroid syndromes, aging and cancer: new genetic and epigenetic insights into old questions

Identification of a germline F692L drug resistance variant in cis with Flt3-internal tandem duplication in knock-in mice

Identification, functional expression and enzymic analysis of two distinct CaaX proteases from Caenorhabditis elegans.

Individualized strategies to target specific mechanisms of disease in malignant melanoma patients displaying unique mutational signatures

Inflammatory and immune response genes have significantly altered expression in schizophrenia.

Intratumor Heterogeneity and Branched Evolution Revealed by Multiregion Sequencing

Intratumoral heterogeneity and clonal evolution in blood malignancies and solid tumors

Leukemia-associated somatic mutations drive distinct patterns of age-related clonal hemopoiesis

Massive genomic rearrangement acquired in a single catastrophic event during cancer development

Microcephalia with mandibular and dental dysplasia in adult Zmpste24-deficient mice.

Molecular synergy underlies the co-occurrence patterns and phenotype of NPM1-mutant acute myeloid leukemia

Multiplexed pancreatic genome engineering and cancer induction by transfection-based CRISPR/Cas9 delivery in mice

Mutational processes molding the genomes of 21 breast cancers

Nuclear envelope alterations generate an aging-like epigenetic pattern in mice deficient in Zmpste24 metalloprotease

Nuclear envelope defects cause stem cell dysfunction in premature-aging mice

PLCG1 mutations in cutaneous T-cell lymphomas

Premature aging in mice activates a systemic metabolic response involving autophagy induction.

Rapid parallel acquisition of somatic mutations afterNPM1in acute myeloid leukaemia evolution

Recurrent chromosomal gains and heterogeneous driver mutations characterise papillary renal cancer evolution

Shared Oncogenic Pathways Implicated in Both Virus-Positive and UV-Induced Merkel Cell Carcinomas.

Sin3b interacts with Myc and decreases Myc levels

Somatic Mutations Reveal Lineage Relationships and Age-Related Mutagenesis in Human Hematopoiesis

Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts

Somatic structural rearrangements in genetically engineered mouse mammary tumors

Spatial and temporal diversity in genomic instability processes defines lung cancer evolution

Splicing-Directed Therapy in a New Mouse Model of Human Accelerated Aging

Targeted gene correction of α1-antitrypsin deficiency in induced pluripotent stem cells

The E3 ligase RNF43 inhibits Wnt signaling downstream of mutated β-catenin by sequestering TCF4 to the nuclear membrane

The Life History of 21 Breast Cancers

The landscape of cancer genes and mutational processes in breast cancer

The life history of 21 breast cancers

The patterns and dynamics of genomic instability in metastatic pancreatic cancer

UTX-mediated enhancer and chromatin remodeling suppresses myeloid leukemogenesis through noncatalytic inverse regulation of ETS and GATA programs

V617F hematopoietic clones are present several years prior to MPN diagnosis and follow different expansion kinetics

Whole exome sequencing of adenoid cystic carcinoma

Whole-exome sequencing in splenic marginal zone lymphoma reveals mutations in genes involved in marginal zone differentiation.