Publications by authors named "A Tischler"

Article Synopsis
  • Hereditary mutant pheochromocytomas (PC) and paragangliomas (PG) are rare tumors that tend to metastasize unpredictably, prompting a study to better understand their genomic characteristics.
  • A multi-omic analysis of 94 tumors from 79 patients revealed distinct molecular profiles based on whether the tumors originated from sympathetic or parasympathetic cells, with specific alterations linked to metastatic behavior.
  • The study also identified high mutation loads, unusual genomic features, and mechanisms of resistance to DNA alkylating chemotherapies, enhancing the comprehension of these complex neuroendocrine tumors and their treatment responses.
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New drugs are needed to shorten and simplify treatment of tuberculosis caused by Mycobacterium tuberculosis. Metabolic pathways that M. tuberculosis requires for growth or survival during infection represent potential targets for anti-tubercular drug development.

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Genetic mutations accumulate in an organism's body throughout its lifetime. While somatic single-nucleotide variants have been well characterized in the human body, the patterns and consequences of large chromosomal alterations in normal tissues remain largely unknown. Here, we present a pan-tissue survey of mosaic chromosomal alterations (mCAs) in 948 healthy individuals from the Genotype-Tissue Expression project, augmenting RNA-based allelic imbalance estimation with haplotype phasing.

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The assessment of cell differentiation in endocrine neoplasms involves not only the identification of a cell's structure and expression of specific transcription factors which regulate that cell, but also the identification of hormones and/or enzymes involved in hormone synthesis. The importance of this functional characterization is emphasized by the fact that the hormones serve as biomarkers for clinical surveillance to identify persistence, recurrence, or progression of disease. Sometimes, unusual patterns of hormone expression lead to unexpected clinical signs and symptoms.

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