Search Results - "Albrecht, Steffen"
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Whose voice is heard in online deliberation?: A study of participation and representation in political debates on the internet
Published in Information, communication & society (01-02-2006)“…One of the core elements of the vision of 'electronic democracy' is the hope that the Internet permits free and equal access to political debates. However,…”
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Immune Checkpoint Inhibition for Hypermutant Glioblastoma Multiforme Resulting From Germline Biallelic Mismatch Repair Deficiency
Published in Journal of clinical oncology (01-07-2016)“…Recurrent glioblastoma multiforme (GBM) is incurable with current therapies. Biallelic mismatch repair deficiency (bMMRD) is a highly penetrant childhood…”
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K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas
Published in Acta neuropathologica (01-09-2012)“…Pediatric glioblastomas (GBM) including diffuse intrinsic pontine gliomas (DIPG) are devastating brain tumors with no effective therapy. Here, we investigated…”
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Frequent ATRX mutations and loss of expression in adult diffuse astrocytic tumors carrying IDH1/IDH2 and TP53 mutations
Published in Acta neuropathologica (01-11-2012)“…Gliomas are the most common primary brain tumors in children and adults. We recently identified frequent alterations in chromatin remodelling pathways…”
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Single-cell specific and interpretable machine learning models for sparse scChIP-seq data imputation
Published in PloS one (01-07-2022)“…Single-cell Chromatin ImmunoPrecipitation DNA-Sequencing (scChIP-seq) analysis is challenging due to data sparsity. High degree of sparsity in biological…”
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Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas
Published in Acta neuropathologica (01-05-2013)“…Recurrent mutations affecting the histone H3.3 residues Lys27 or indirectly Lys36 are frequent drivers of pediatric high-grade gliomas (over 30 % of HGGs). To…”
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seqQscorer: automated quality control of next-generation sequencing data using machine learning
Published in Genome Biology (05-03-2021)“…Controlling quality of next-generation sequencing (NGS) data files is a necessary but complex task. To address this problem, we statistically characterize…”
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Germ-line and somatic DICER1 mutations in pineoblastoma
Published in Acta neuropathologica (01-10-2014)“…Germ-line RB - 1 mutations predispose to pineoblastoma (PinB), but other predisposing genetic factors are not well established. We recently identified a…”
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Pediatric and adult sonic hedgehog medulloblastomas are clinically and molecularly distinct
Published in Acta neuropathologica (01-08-2011)“…Recent integrative genomic approaches have defined molecular subgroups of medulloblastoma that are genetically and clinically distinct. Sonic hedgehog (Shh)…”
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Specific detection of methionine 27 mutation in histone 3 variants (H3K27M) in fixed tissue from high-grade astrocytomas
Published in Acta neuropathologica (01-11-2014)“…Studies in pediatric high-grade astrocytomas (HGA) by our group and others have uncovered recurrent somatic mutations affecting highly conserved residues in…”
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A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis
Published in American journal of human genetics (06-06-2013)“…Infantile myofibromatosis (IM) is the most common benign fibrous tumor of soft tissues affecting young children. By using whole-exome sequencing, RNA…”
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Case Report: Aperiodic Fluctuations of Neural Activity in the Ictal MEG of a Child With Drug-Resistant Fronto-Temporal Epilepsy
Published in Frontiers in human neuroscience (04-03-2021)“…Successful surgical treatment of patients with focal drug-resistant epilepsy remains challenging, especially in cases for which it is difficult to define the…”
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Preclinical Evaluation of Radiation and Perifosine in a Genetically and Histologically Accurate Model of Brainstem Glioma
Published in Cancer research (Chicago, Ill.) (15-03-2010)“…Brainstem gliomas (BSG) are a rare group of central nervous system tumors that arise mostly in children and usually portend a particularly poor prognosis. We…”
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Genetic Aberrations Leading to MAPK Pathway Activation Mediate Oncogene-Induced Senescence in Sporadic Pilocytic Astrocytomas
Published in Clinical cancer research (15-07-2011)“…Oncogenic BRAF/Ras or NF1 loss can potentially trigger oncogene-induced senescence (OIS) through activation of the mitogen-activated protein kinase (MAPK)…”
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Forecasting severe respiratory disease hospitalizations using machine learning algorithms
Published in BMC medical informatics and decision making (09-10-2024)“…Forecasting models predicting trends in hospitalization rates have the potential to inform hospital management during seasonal epidemics of respiratory…”
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The utility of arterial spin labeling in the presurgical evaluation of poorly defined focal epilepsy in children
Published in Journal of neurosurgery. Pediatrics (01-03-2021)“…The authors sought to assess the utility of arterial spin labeling (ASL) perfusion 3T-MRI for the presurgical evaluation of poorly defined focal epilepsy in…”
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Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing
Published in Human mutation (01-08-2010)“…Protein coding genes constitute approximately 1% of the human genome but harbor 85% of the mutations with large effects on disease-related traits. Therefore,…”
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Active Caspase-6 and Caspase-6-Cleaved Tau in Neuropil Threads, Neuritic Plaques, and Neurofibrillary Tangles of Alzheimer's Disease
Published in The American journal of pathology (01-08-2004)“…Previously, we have shown that caspase-6 but not caspase-3 is activated by serum deprivation and induces a protracted cell death in primary cultures of human…”
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Expression and activation of caspase-6 in human fetal and adult tissues
Published in PloS one (12-11-2013)“…Caspase-6 is an effector caspase that has not been investigated thoroughly despite the fact that Caspase-6 is strongly activated in Alzheimer disease brains…”
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