Publications by authors named "A Brinckmann"
Coronavirus disease 2019 (COVID-19) is an infectious, acute respiratory disease caused mainly by person-to-person transmission of the coronavirus SARS-CoV-2. Its emergence has caused a world-wide acute health crisis, intensified by the challenge of reliably identifying individuals likely to transmit the disease. Diagnosis is hampered by the many unknowns surrounding this disease, including those relating to infectious viral burden.
View Article and Find Full Text PDFHuman patients with myoclonic epilepsy with ragged-red fibers (MERRF) suffer from regionalized pathology caused by a mutation in the mitochondrial DNA (m.8344A→G). In MERRF-syndrome brain and skeletal muscles are predominantly affected, despite mtDNA being present in any tissue.
View Article and Find Full Text PDFComplex hepatitis B virus (HBV) variants with mutations in core promoter (Cp) plus deletions in the C gene and/or preS region--that are associated with development of liver cirrhosis in renal transplant recipients--show a drastically changed phenotype with altered transcription and disturbed surface and core protein expression. Here, we analyzed the replication phenotype of six different defective variant genomes, isolated from two patients, after co-transfection with HBV wild-type (wt) in varying proportions. Both in HuH7 and HepG2 cells, the variants showed enhanced replication and enrichment in the different transfected variant-wt mixtures.
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- Neurofibromatosis type 1 (NF1) is linked to mutations in the NF1 gene, creating challenges for mutation analysis due to the gene's large size and complexities such as pseudogenes and new mutations.
- Researchers analyzed mutations in 38 patients and explored how different mutation types affect the transcription of the NF1 gene, using a technique called Pyrosequencing for precise measurement of mRNA levels.
- The study found 21 new mutations and a connection between NF1 transcript imbalance and specific mutation types, revealing that typical screening methods could be enhanced by focusing on mutations that disrupt the gene's reading frame, which are especially vulnerable to nonsense-mediated decay (NMD).
We report on the clinical, molecular and biochemical findings of a patient with the rare event (<4.02 x 10(-9) per generation) of coinciding de novo mutations in the nuclear PAX6 (c.1252-1267del16) and the mitochondrial mt.
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