Publications by authors named "B Budde"
Article Synopsis
- * Researchers found mutations in the ZFTRAF1 gene, which encodes an unknown protein, and confirmed its absence in the affected individuals’ cells, indicating a potential link to the disorder.
- * The study highlights that the affected individuals exhibit disruptions in cellular processes, particularly those related to mRNA processing and autophagy, suggesting that ZFTRAF1 variants contribute to neurodevelopmental issues.
Article Synopsis
- In squamous cell carcinoma of the lung (LUSC), fewer targetable genetic alterations exist compared to lung adenocarcinoma (LUAD), prompting a study to analyze recurrent gene fusions in LUSC cases.
- A total of 1608 LUSC samples were examined using targeted next-generation sequencing, resulting in the discovery of gene fusions in about 3% of the cases, including known fusions like ALK::EML4 and new fusions like EGFR::VSTM2A.
- The study found that many LUSC patients have unstable genomes, suggesting that these gene fusions may not be the main drivers of cancer and caution is needed when interpreting new fusions in the context of
JCI Insight
November 2023
Article Synopsis
- * A specific genetic mutation (R253*) was found in two siblings experiencing severe neurological and tumor-related health issues, which was associated with significant cellular abnormalities and inefficient protein function.
- * Another mutation (R227*) identified in a different patient is likely tied to complete loss of p31comet function, further indicating that mutations in this gene are linked to risks for aneuploidy and cancer development.
J Neurosurg Spine
November 2023
Article Synopsis
- The study investigates how spinopelvic parameters and global spine morphology affect fracture location, fracture type, and neurological outcomes in patients with thoracolumbar trauma.
- After reviewing 2,896 patients, 514 were selected based on specific criteria; data such as age, injury mechanism, and body type were collected, differentiating between high pelvic incidence (PI) and low PI patients.
- Results revealed that high PI patients had fewer lower lumbar spine fractures than low PI patients, with fall from height being a major cause of neurological deficits, especially among those with certain types of injuries.
