Publications by authors named "M H A J Joosten"
We present the rare case of a 51-year-old male diagnosed with a solitary fibrous tumor (SFT) of the prostate, along with a concurrent low-grade prostate adenocarcinoma (Gleason score 3 + 3, Grade Group 1). The diagnosis was confirmed by positive immunohistochemical markers, including CD34, BCL2, and STAT6, and molecular analysis showing a NAB2-STAT6 fusion. Following successful surgical management and the simultaneous diagnosis of a pulmonary relapse from a prior thyroid carcinoma, the patient remains under clinical surveillance.
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- Integrin alpha V is crucial for cell adhesion and signaling during development, and mutations in its gene (ITGAV) can lead to serious health issues.
- In three families, biallelic variants were found that caused either dysfunctional protein production or the integrin being misplaced, resulting in severe developmental problems like eye and brain abnormalities, inflammatory bowel disease, and immune issues.
- Studies in patient cells and zebrafish models confirmed these mutations resulted in impaired immune signaling and developmental defects, linking the ITGAV variants to a newly identified human disease.
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- The brain determines limb positions by processing sensory information from mechanoreceptors, but this information can be noisy, leading to probabilistic processing based on prior beliefs about arm posture, utilizing Bayes' rule.
- A computational model combining a probabilistic kinematic chain with Gaussian noise was created to analyze errors in a VR posture matching task, where participants had to align their unseen arm to a target posture.
- The results revealed that a Bayesian model with Gaussian priors explained participants' response biases and variations more effectively than a uniform prior model, indicating unique biases in arm posture perception linked to individual differences.
Conformational heterogeneity of biological macromolecules is a challenge in single-particle averaging (SPA). Current standard practice is to employ classification and filtering methods that may allow a discrete number of conformational states to be reconstructed. However, the conformation space accessible to these molecules is continuous and, therefore, explored incompletely by a small number of discrete classes.
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