Publications by authors named "O Bartsch"

Current treatment outcome of patients with glioblastoma (GBM) remains poor. Following standard therapy, recurrence is universal with limited survival. Tumors from 173 GBM patients are analysed for somatic mutations to generate a personalized peptide vaccine targeting tumor-specific neoantigens.

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Article Synopsis
  • The research links the TUBA4A gene to familial amyotrophic lateral sclerosis (fALS) and fronto-temporal dementia (FTD), identifying pathogenic variants in patients with these conditions.* -
  • A study of 448 patients with cerebellar ataxia revealed ultra-rare, likely harmful TUBA4A variants not found in public databases, indicating a potential genetic cause for this condition.* -
  • Analysis showed a significant presence of TUBA4A mutations in inherited ataxia cases compared to controls, with experiments on patient-derived fibroblasts revealing disruptions in microtubule organization linked to the mutations.*
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MPDZ, a gene with diverse functions mediating cell-cell junction interactions, receptor signaling, and binding multivalent scaffold proteins, is associated with a spectrum of clinically heterogeneous phenotypes with biallelic perturbation. Despite its clinical relevance, the mechanistic underpinnings of these variants remain elusive, underscoring the need for extensive case series and functional investigations. In this study, we conducted a systematic review of cases in the literature through two electronic databases following the PRISMA guidelines.

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Article Synopsis
  • - Rubinstein-Taybi syndrome (RTS) is a genetic condition characterized by intellectual disability, unique facial features, limb abnormalities, and unusual growth patterns, caused by mutations in the CBP and p300 genes.
  • - A diverse range of clinical and diagnostic practices for RTS exists worldwide, highlighted by discussions among international experts and support groups.
  • - This report presents consensus recommendations for clinical diagnostic criteria, molecular investigations, and long-term management of RTS, emphasizing the need for ongoing evaluation to improve patient care.
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Localized prostate cancer is curable, but metastatic castration sensitive prostate cancer has a low 5-year survival rate, while broad treatment options are lacking. Here we present an mCSPC patient under remission receiving individualized neoantigen-derived peptide vaccination as recurrence prophylaxis in the setting of an individual treatment attempt. The patient was initially analyzed for somatic tumor mutations and then consecutively treated with two different peptide vaccines over a period of 33 months.

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