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Article
Open AccessAugmenting MEK inhibitor efficacy in BRAF wild-type melanoma: synergistic effects of disulfiram combination therapy
MEK inhibitors (MEKi) were shown to be clinically insufficiently effective in patients suffering from BRAF wild-type (BRAF WT) melanoma, even if the MAPK pathway was constitutively activated due to mutations i...
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Article
Open AccessTMB and BRAF mutation status are independent predictive factors in high-risk melanoma patients with adjuvant anti-PD-1 therapy
High tumor mutational burden (TMB) is associated with a favorable outcome in metastatic melanoma patients treated with immune checkpoint inhibitors. However, data are limited in the adjuvant setting. As BRAF m...
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Article
Open AccessMedizinische Zwillingsforschung in Deutschland
Nach dem Zweiten Weltkrieg wurden weltweit Zwillingskohorten aufgebaut, die inzwischen ca. 1,5 Mio. Zwillinge umfassen und zwischen 1950 und 2012 über 2748 Zwillingsstudien hervorgebracht haben. Diese Zahl ste...
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Article
Open AccessSwarm Learning for decentralized and confidential clinical machine learning
Fast and reliable detection of patients with severe and heterogeneous illnesses is a major goal of precision medicine1,2. Patients with leukaemia can be identified using machine learning on the basis of their blo...
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Article
Postmortale molekulargenetische Untersuchungen (molekulare Autopsie) bei kardiovaskulären und bei ungeklärten Todesfällen
Obduktionen (Sektionen oder Leichenöffnungen) aus klinischer oder forensischer Indikation bei unklaren, frühzeitigen (in der Regel <40. Lebensjahr, im Einzelfall auch später) oder kardiovaskulären Todesfällen ...
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Article
Open AccessThe impact of an audience response system on a summative assessment, a controlled field study
Audience response systems allow to activate the audience and to receive a direct feedback of participants during lectures. Modern systems do not require any proprietary hardware anymore. Students can directly ...
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Article
α-Synuclein in Parkinson’s disease: causal or bystander?
Parkinson’s disease (PD) comprises a spectrum of disorders with differing subtypes, the vast majority of which share Lewy bodies (LB) as a characteristic pathological hallmark. The process(es) underlying LB ge...
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Article
Open AccessHomozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease – a new type of neuronal ceroid lipofuscinosis (CLN15)?
Homozygous mutation of TBC1 domain-containing kinase (TBCK) is the cause of a very recently defined severe childhood disorder, which is characterized by severe hypotonia, global developmental delay, intellectual ...
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Article
Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization
Mutations in the spatacsin gene have recently been identified as the genetic cause of autosomal–recessive spastic paraplegia (SPG) with thin corpus callosum, map** to chromosome 15p13–21. While several nonsense...
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Article
Toward the complete genomic map and molecular pathology of human chromosome 4
The identification of disease genes via molecular DNA cloning has revolutionized human genetics and medicine. Both the candidate gene approach and positional cloning have been used successfully. The defects ca...
