List of works - Andreas E Kulozik

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

scientific article published on 20 March 2020

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 17 May 2010

Adult medulloblastoma comprises three major molecular variants.

scientific article

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

scientific article

Author Correction: The landscape of genomic alterations across childhood cancers

scientific article published in Nature

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

scientific article published on May 2008

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

scientific article

Biological and clinical heterogeneity of MYCN-amplified medulloblastoma.

scientific article

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

scientific article

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

scientific article published on 15 July 2016

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

scientific article published on 7 February 2017

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

scientific article published on 05 August 2020

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

scientific article published on September 20, 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

scientific article

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

scientific article published in Nature

DNA methylation-based classification of central nervous system tumours

scientific article published on 14 March 2018

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

scientific article

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

scientific article published on 17 February 2016

Disassembly of exon junction complexes by PYM

scientific article

Dissecting the genomic complexity underlying medulloblastoma

scientific article

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

scientific article (publication date: 29 January 2012)

Enhancer hijacking activates GFI1 family oncogenes in medulloblastoma

scientific article

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

scientific article published on 15 August 2017

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 21 April 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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 20 August 2019

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

scientific article

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

scientific article

Hemoglobinopathies are on the increase

scientific article (publication date: February 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

scientific article

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

scientific article

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

scientific article published in October 2012

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

scientific article published on 11 August 2015

Insights into the design and interpretation of iCLIP experiments

scientific article published on 16 January 2017

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

scientific article published on 10 March 2015

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

scientific article

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

scientific article

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

scientific article published on 20 August 2016

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

scientific article published on 30 May 2016

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

scientific article

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

scientific article published on 2 December 2011

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

scientific article

Molecular staging of intracranial ependymoma in children and adults

scientific article published in June 2010

Nestin expression identifies ependymoma patients with poor outcome

scientific article published on 30 May 2012

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

scientific article published on 28 July 2016

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

scientific article

Nonsense-mediated mRNA decay and loss-of-function of the protein underlie the X-linked epilepsy associated with the W356× mutation in synapsin I.

scientific article

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

scientific article

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

scientific article

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

scientific article published in July 2009

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

scientific article published on 20 March 2011

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

scientific article

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

scientific article (publication date: April 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

scientific article

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

scientific article published on 7 October 2015

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

scientific article published on 22 September 2017

Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma

scientific article

Reply to J.C. Lindsey et al

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

scientific article

Sarcoma classification by DNA methylation profiling

scientific article published on 21 January 2021

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

scientific article published on 6 June 2007

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

scientific article

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

scientific article published in 2024

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

scientific article

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

scientific article

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

scientific article published on 12 July 2016

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

scientific article

The human intronless melanocortin 4-receptor gene is NMD insensitive

scientific article (publication date: February 2002)

The landscape of genomic alterations across childhood cancers

scientific article published on 28 February 2018

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

Y14 and hUpf3b form an NMD-activating complex

scientific article

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

scientific article

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

scientific article

List of works by Andreas E Kulozik

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