Judith Oehler

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Expansion of GAA/TTC repeats is the causative event in Friedreich's ataxia. GAA repeats have been shown to hinder replication in model systems, but the mechanisms of replication interference and expansion in human cells remained elusive. To study in vivo replication structures at GAA repeats, we designed a new plasmid-based system that permits the analysis(More)
A technique has been developed to artificially fossilize microscopic algae in crystalline silica under conditions of moderately elevated temperature and pressure. The technique is designed to simulate geochemical processes thought to have resulted in the preservation of organic microfossils in Precambrian bedded cherts. In degree of preservation and(More)
Age-related degenerative and malignant diseases represent major challenges for health care systems. Elucidation of the molecular mechanisms underlying carcinogenesis and age-associated pathologies is thus of growing biomedical relevance. We identified biallelic germline mutations in SPRTN (also called C1orf124 or DVC1) in three patients from two unrelated(More)
DNA double strand breaks (DSBs) are the most cytotoxic DNA lesions and, if not repaired, lead to chromosomal rearrangement, genomic instability and cell death. Cells have evolved a complex network of DNA repair and signalling molecules which promptly detect and repair DSBs, commonly known as the DNA damage response (DDR). The DDR is orchestrated by various(More)
Organically preserved algal microfossils from the Ringwood evaporite deposit in the Gillen Member of the Bitter Springs Formation (late Precambrian of central Australia) are of small size, low diversity, and probable prokaryotic affinities. These rather primitive characteristics appear to reflect the stressful conditions that prevailed in a periodically(More)
Tetrahedral tetrads of coccoid cells are known from two Precambrian localities; one example has been reported from the late Proterozoic Bitter Springs Formation and a second example, morphologically different from the first, is here described from the middle Proterozoic Amelia Dolomite. Among modern algae, sheath- or wall-enclosed tetrahedral tetrads are(More)
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