Lista de obras -

2,6-Diaminopurine as a highly potent corrector of UGA nonsense mutations

artículo científico publicado en 2020

3' end mRNA processing: molecular mechanisms and implications for health and disease

artículo científico publicado en 2008

5-azacytidine inhibits nonsense-mediated decay in a MYC-dependent fashion.

artículo científico publicado en 2014

A novel human high-risk ependymoma stem cell model reveals the differentiation-inducing potential of the histone deacetylase inhibitor Vorinostat

artículo científico publicado en 2011

A sensitive array for microRNA expression profiling (miChip) based on locked nucleic acids (LNA)

artículo científico publicado en 2006

Abnormally spliced beta-globin mRNAs: a single point mutation generates transcripts sensitive and insensitive to nonsense-mediated mRNA decay

artículo científico publicado en 2002

Abstract 3094: Epigenetic classification of ependymal brain tumors across age groups

Adult and pediatric medulloblastomas are genetically distinct and require different algorithms for molecular risk stratification

artículo científico publicado en 2010

Adult medulloblastoma comprises three major molecular variants.

artículo científico publicado en 2011

Atypical Teratoid/Rhabdoid Tumors Are Comprised of Three Epigenetic Subgroups with Distinct Enhancer Landscapes

artículo científico publicado en 2016

Author Correction: The landscape of genomic alterations across childhood cancers

artículo científico publicado en 2018

BRAF gene duplication constitutes a mechanism of MAPK pathway activation in low-grade astrocytomas

artículo científico publicado en 2008

BRAFV600E mutant protein is expressed in cells of variable maturation in Langerhans cell histiocytosis

artículo científico publicado en 2012

Biological and clinical heterogeneity of MYCN-amplified medulloblastoma.

artículo científico publicado en 2011

Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in THPO.

artículo científico publicado en 2017

CRLF2 over-expression is a poor prognostic marker in children with high risk T-cell acute lymphoblastic leukemia

artículo científico publicado en 2016

Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology

artículo científico publicado en 2017

Chromatin accessibility landscape of pediatric T-lymphoblastic leukemia and human T-cell precursors

artículo científico publicado en 2020

Combination of suberoylanilide hydroxamic acid with heavy ion therapy shows promising effects in infantile sarcoma cell lines ⬇️

artículo científico publicado el 20 de septiembre de 2011

Complexes between the nonsense-mediated mRNA decay pathway factor human upf1 (up-frameshift protein 1) and essential nonsense-mediated mRNA decay factors in HeLa cells

artículo científico publicado en 2003

Comprehensive Analysis of Chromatin States in Atypical Teratoid/Rhabdoid Tumor Identifies Diverging Roles for SWI/SNF and Polycomb in Gene Regulation

scientific article published on 27 December 2018

Corrigendum: Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma

artículo científico publicado en 2012

DNA methylation-based classification of central nervous system tumours

artículo científico publicado en 2018

Delineation of two clinically and molecularly distinct subgroups of posterior fossa ependymoma

artículo científico publicado en 2011

Dexamethasone vs prednisone in induction treatment of pediatric ALL: results of the randomized trial AIEOP-BFM ALL 2000.

artículo científico publicado en 2016

Disassembly of exon junction complexes by PYM

artículo científico publicado en 2009

Dissecting the genomic complexity underlying medulloblastoma

artículo científico publicado en 2012

Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma

artículo científico publicado en 2012

Enhancer hijacking activates GFI1 family oncogenes in medulloblastoma

artículo científico publicado en 2014

Erratum to: Insights into the design and interpretation of iCLIP experiments.

artículo científico publicado en 2017

Exon Junction Complexes Show a Distributional Bias toward Alternatively Spliced mRNAs and against mRNAs Coding for Ribosomal Proteins.

artículo científico publicado en 2016

Exon-junction complex components specify distinct routes of nonsense-mediated mRNA decay with differential cofactor requirements

artículo científico publicado en 2005

FSTL5 is a marker of poor prognosis in non-WNT/non-SHH medulloblastoma

artículo científico publicado en 2011

Focal genomic amplification at 19q13.42 comprises a powerful diagnostic marker for embryonal tumors with ependymoblastic rosettes.

artículo científico publicado en 2010

Front-line imatinib treatment in children and adolescents with chronic myeloid leukemia: results from a phase III trial

scientific article published on 20 June 2018

Functions of hUpf3a and hUpf3b in nonsense-mediated mRNA decay and translation

artículo científico publicado en 2006

Gain-of-function mutations in interleukin-7 receptor-α (IL7R) in childhood acute lymphoblastic leukemias ⬇️

artículo científico publicado en 2011

Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition

artículo científico publicado en 2014

Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations

artículo científico publicado en 2012

Genome-wide association study identifies multiple new loci associated with Ewing sarcoma susceptibility

scientific article published in Nature Communications

Genotyping circulating tumor DNA of pediatric Hodgkin lymphoma

artículo científico publicado en 2019

HD-MB03 is a novel Group 3 medulloblastoma model demonstrating sensitivity to histone deacetylase inhibitor treatment.

artículo científico publicado en 2012

HIV-1 Recruits UPF1 but Excludes UPF2 to Promote Nucleocytoplasmic Export of the Genomic RNA.

artículo científico publicado en 2015

Hemoglobinopathies are on the increase

artículo científico publicado en 2010

High CD45 surface expression determines relapse risk in children with precursor B-cell and T-cell acute lymphoblastic leukemia treated according to the ALL-BFM 2000 protocol

artículo científico publicado en 2014

Histone 3.3 hotspot mutations in conventional osteosarcomas: a comprehensive clinical and molecular characterization of six H3F3A mutated cases

artículo científico publicado en 2017

Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma

artículo científico publicado en 2012

Improved binding site assignment by high-resolution mapping of RNA-protein interactions using iCLIP

artículo científico publicado en 2015

Insights into the design and interpretation of iCLIP experiments

artículo científico publicado en 2017

Integrated analysis of pediatric glioblastoma reveals a subset of biologically favorable tumors with associated molecular prognostic markers

artículo científico publicado en 2015

Integration of splicing, transport and translation to achieve mRNA quality control by the nonsense-mediated decay pathway

artículo científico publicado en 2002

Interactions between UPF1, eRFs, PABP and the exon junction complex suggest an integrated model for mammalian NMD pathways

artículo científico publicado en 2008

Low-dose Actinomycin-D treatment re-establishes the tumoursuppressive function of P53 in RELA-positive ependymoma

artículo científico publicado en 2016

MB-57INTERACTION OF HDAC2 AND MYC IN GROUP 3 MEDULLOBLASTOMA - A NOVEL THERAPEUTIC TARGET.

artículo científico publicado en 2016

Mechanism of escape from nonsense-mediated mRNA decay of human beta-globin transcripts with nonsense mutations in the first exon

artículo científico publicado en 2011

MicroRNA-182 promotes leptomeningeal spread of non-sonic hedgehog-medulloblastoma

artículo científico publicado en 2011

Molecular Classification of Ependymal Tumors across All CNS Compartments, Histopathological Grades, and Age Groups

artículo científico publicado en 2015

Molecular staging of intracranial ependymoma in children and adults

artículo científico publicado en 2010

Nestin expression identifies ependymoma patients with poor outcome

artículo científico publicado en 2012

Next-generation personalised medicine for high-risk paediatric cancer patients - The INFORM pilot study

artículo científico publicado en 2016

Non-randomized therapy trial to determine the safety and efficacy of heavy ion radiotherapy in patients with non-resectable osteosarcoma

artículo científico publicado en 2010

Nonsense-Mediated mRNA Decay and Loss-of-Function of the Protein Underlie the X-Linked Epilepsy Associated with the W356× Mutation in Synapsin I ⬇️

artículo científico publicado el 20 de junio de 2013

Nonsense-mediated mRNA decay: from vacuum cleaner to Swiss army knife

artículo científico publicado en 2004

Novel genomic amplification targeting the microRNA cluster at 19q13.42 in a pediatric embryonal tumor with abundant neuropil and true rosettes

artículo científico publicado en 2008

Novel oncogene amplifications in tumors from a family with Li-Fraumeni syndrome

artículo científico publicado en 2009

Oncogenic FAM131B-BRAF fusion resulting from 7q34 deletion comprises an alternative mechanism of MAPK pathway activation in pilocytic astrocytoma

artículo científico publicado en 2011

Outcome and prognostic factors of desmoplastic medulloblastoma treated within a multidisciplinary treatment concept

artículo científico publicado en 2010

Outcome prediction in pediatric medulloblastoma based on DNA copy-number aberrations of chromosomes 6q and 17q and the MYC and MYCN loci

artículo científico publicado en 2009

PDX models recapitulate the genetic and epigenetic landscape of pediatric T-cell leukemia

scientific article published on 01 December 2018

Pediatric T-cell lymphoblastic leukemia evolves into relapse by clonal selection, acquisition of mutations and promoter hypomethylation

artículo científico publicado en 2015

Pediatric Targeted Therapy: Clinical Feasibility of Personalized Diagnostics in Children with Relapsed and Progressive Tumors

artículo científico publicado en 2015

Protocol II vs protocol III given twice during reinduction therapy in children with medium-risk ALL.

artículo científico publicado en 2017

Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma

artículo científico publicado en 2013

Reply to J.C. Lindsey et al

Role of LIM and SH3 protein 1 (LASP1) in the metastatic dissemination of medulloblastoma

artículo científico publicado en 2010

Sarcoma classification by DNA methylation profiling

artículo científico publicado en 2021

Splicing factors stimulate polyadenylation via USEs at non-canonical 3' end formation signals

artículo científico publicado en 2007

Supratentorial primitive neuroectodermal tumors of the central nervous system frequently harbor deletions of the CDKN2A locus and other genomic aberrations distinct from medulloblastomas

artículo científico publicado en 2007

Systematic analysis of RNA-binding proteins identifies targetable therapeutic vulnerabilities in osteosarcoma

artículo científico publicado en 2024

TP53 mutation is frequently associated with CTNNB1 mutation or MYCN amplification and is compatible with long-term survival in medulloblastoma

artículo científico publicado en 2010

Targeting class I histone deacetylase 2 in MYC amplified group 3 medulloblastoma

artículo científico publicado en 2015

The differential expression of alternatively polyadenylated transcripts is a common stress-induced response mechanism that modulates mammalian mRNA expression in a quantitative and qualitative fashion

artículo científico publicado en 2016

The hierarchy of exon-junction complex assembly by the spliceosome explains key features of mammalian nonsense-mediated mRNA decay

artículo científico publicado en 2009

The human intronless melanocortin 4-receptor gene is NMD insensitive

artículo científico publicado en 2002

The landscape of genomic alterations across childhood cancers

artículo científico publicado en 2018

The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis

artículo científico publicado en 2015

The uORF-containing thrombopoietin mRNA escapes nonsense-mediated decay (NMD).

artículo científico publicado en 2006

Treatment of pediatric patients and young adults with particle therapy at the Heidelberg Ion Therapy Center (HIT): establishment of workflow and initial clinical data

artículo científico publicado en 2012

Two mammalian MAGOH genes contribute to exon junction complex composition and nonsense-mediated decay ⬇️

artículo científico publicado el 23 de julio de 2013

Unexpected roles for UPF1 in HIV-1 RNA metabolism and translation

artículo científico publicado en 2008

Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency

artículo científico publicado en 2013

Y14 and hUpf3b form an NMD-activating complex

artículo científico publicado en 2003

mRNA 3'end processing: A tale of the tail reaches the clinic

artículo científico publicado en 2014

p38 MAPK controls prothrombin expression by regulated RNA 3' end processing

artículo científico publicado en 2011

Lista de obras de

2,6-Diaminopurine as a highly potent corrector of UGA nonsense mutations

3' end mRNA processing: molecular mechanisms and implications for health and disease

5-azacytidine inhibits nonsense-mediated decay in a MYC-dependent fashion.

A novel human high-risk ependymoma stem cell model reveals the differentiation-inducing potential of the histone deacetylase inhibitor Vorinostat

A sensitive array for microRNA expression profiling (miChip) based on locked nucleic acids (LNA)

Abnormally spliced beta-globin mRNAs: a single point mutation generates transcripts sensitive and insensitive to nonsense-mediated mRNA decay

Abstract 3094: Epigenetic classification of ependymal brain tumors across age groups

Adult and pediatric medulloblastomas are genetically distinct and require different algorithms for molecular risk stratification

Adult medulloblastoma comprises three major molecular variants.

Atypical Teratoid/Rhabdoid Tumors Are Comprised of Three Epigenetic Subgroups with Distinct Enhancer Landscapes

Author Correction: The landscape of genomic alterations across childhood cancers

BRAF gene duplication constitutes a mechanism of MAPK pathway activation in low-grade astrocytomas

BRAFV600E mutant protein is expressed in cells of variable maturation in Langerhans cell histiocytosis

Biological and clinical heterogeneity of MYCN-amplified medulloblastoma.

Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in THPO.

CRLF2 over-expression is a poor prognostic marker in children with high risk T-cell acute lymphoblastic leukemia

Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology

Chromatin accessibility landscape of pediatric T-lymphoblastic leukemia and human T-cell precursors

Combination of suberoylanilide hydroxamic acid with heavy ion therapy shows promising effects in infantile sarcoma cell lines ⬇️

Complexes between the nonsense-mediated mRNA decay pathway factor human upf1 (up-frameshift protein 1) and essential nonsense-mediated mRNA decay factors in HeLa cells

Comprehensive Analysis of Chromatin States in Atypical Teratoid/Rhabdoid Tumor Identifies Diverging Roles for SWI/SNF and Polycomb in Gene Regulation

Corrigendum: Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma

DNA methylation-based classification of central nervous system tumours

Delineation of two clinically and molecularly distinct subgroups of posterior fossa ependymoma

Dexamethasone vs prednisone in induction treatment of pediatric ALL: results of the randomized trial AIEOP-BFM ALL 2000.

Disassembly of exon junction complexes by PYM

Dissecting the genomic complexity underlying medulloblastoma

Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma

Enhancer hijacking activates GFI1 family oncogenes in medulloblastoma

Erratum to: Insights into the design and interpretation of iCLIP experiments.

Exon Junction Complexes Show a Distributional Bias toward Alternatively Spliced mRNAs and against mRNAs Coding for Ribosomal Proteins.

Exon-junction complex components specify distinct routes of nonsense-mediated mRNA decay with differential cofactor requirements

FSTL5 is a marker of poor prognosis in non-WNT/non-SHH medulloblastoma

Focal genomic amplification at 19q13.42 comprises a powerful diagnostic marker for embryonal tumors with ependymoblastic rosettes.

Front-line imatinib treatment in children and adolescents with chronic myeloid leukemia: results from a phase III trial

Functions of hUpf3a and hUpf3b in nonsense-mediated mRNA decay and translation

Gain-of-function mutations in interleukin-7 receptor-α (IL7R) in childhood acute lymphoblastic leukemias ⬇️

Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition

Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations

Genome-wide association study identifies multiple new loci associated with Ewing sarcoma susceptibility

Genotyping circulating tumor DNA of pediatric Hodgkin lymphoma

HD-MB03 is a novel Group 3 medulloblastoma model demonstrating sensitivity to histone deacetylase inhibitor treatment.

HIV-1 Recruits UPF1 but Excludes UPF2 to Promote Nucleocytoplasmic Export of the Genomic RNA.

Hemoglobinopathies are on the increase

High CD45 surface expression determines relapse risk in children with precursor B-cell and T-cell acute lymphoblastic leukemia treated according to the ALL-BFM 2000 protocol

Histone 3.3 hotspot mutations in conventional osteosarcomas: a comprehensive clinical and molecular characterization of six H3F3A mutated cases

Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma

Improved binding site assignment by high-resolution mapping of RNA-protein interactions using iCLIP

Insights into the design and interpretation of iCLIP experiments

Integrated analysis of pediatric glioblastoma reveals a subset of biologically favorable tumors with associated molecular prognostic markers

Integration of splicing, transport and translation to achieve mRNA quality control by the nonsense-mediated decay pathway

Interactions between UPF1, eRFs, PABP and the exon junction complex suggest an integrated model for mammalian NMD pathways

Low-dose Actinomycin-D treatment re-establishes the tumoursuppressive function of P53 in RELA-positive ependymoma

MB-57INTERACTION OF HDAC2 AND MYC IN GROUP 3 MEDULLOBLASTOMA - A NOVEL THERAPEUTIC TARGET.

Mechanism of escape from nonsense-mediated mRNA decay of human beta-globin transcripts with nonsense mutations in the first exon

MicroRNA-182 promotes leptomeningeal spread of non-sonic hedgehog-medulloblastoma

Molecular Classification of Ependymal Tumors across All CNS Compartments, Histopathological Grades, and Age Groups

Molecular staging of intracranial ependymoma in children and adults

Nestin expression identifies ependymoma patients with poor outcome

Next-generation personalised medicine for high-risk paediatric cancer patients - The INFORM pilot study

Non-randomized therapy trial to determine the safety and efficacy of heavy ion radiotherapy in patients with non-resectable osteosarcoma

Nonsense-Mediated mRNA Decay and Loss-of-Function of the Protein Underlie the X-Linked Epilepsy Associated with the W356× Mutation in Synapsin I ⬇️

Nonsense-mediated mRNA decay: from vacuum cleaner to Swiss army knife

Novel genomic amplification targeting the microRNA cluster at 19q13.42 in a pediatric embryonal tumor with abundant neuropil and true rosettes

Novel oncogene amplifications in tumors from a family with Li-Fraumeni syndrome

Oncogenic FAM131B-BRAF fusion resulting from 7q34 deletion comprises an alternative mechanism of MAPK pathway activation in pilocytic astrocytoma

Outcome and prognostic factors of desmoplastic medulloblastoma treated within a multidisciplinary treatment concept

Outcome prediction in pediatric medulloblastoma based on DNA copy-number aberrations of chromosomes 6q and 17q and the MYC and MYCN loci

PDX models recapitulate the genetic and epigenetic landscape of pediatric T-cell leukemia

Pediatric T-cell lymphoblastic leukemia evolves into relapse by clonal selection, acquisition of mutations and promoter hypomethylation

Pediatric Targeted Therapy: Clinical Feasibility of Personalized Diagnostics in Children with Relapsed and Progressive Tumors

Protocol II vs protocol III given twice during reinduction therapy in children with medium-risk ALL.

Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma

Reply to J.C. Lindsey et al

Role of LIM and SH3 protein 1 (LASP1) in the metastatic dissemination of medulloblastoma

Sarcoma classification by DNA methylation profiling

Splicing factors stimulate polyadenylation via USEs at non-canonical 3' end formation signals

Supratentorial primitive neuroectodermal tumors of the central nervous system frequently harbor deletions of the CDKN2A locus and other genomic aberrations distinct from medulloblastomas

Systematic analysis of RNA-binding proteins identifies targetable therapeutic vulnerabilities in osteosarcoma