Publications by authors named "J Verheijen"
Article Synopsis
- Natural populations of Arabidopsis thaliana, particularly from the Netherlands, were studied to understand how plants adapt to subtle environmental changes despite a generally mild climate.
- The research identified key genetic variations, including mutations in the GA5 gene leading to semidwarf accessions with better wind tolerance and the FSD3 gene affecting iron deficiency tolerance.
- The findings suggest that genetic diversity in this localized population is comparable to broader global collections, providing insights into the genetic mechanisms behind plant adaptation to environmental factors like drought and nutrient availability.
Objective: To determine the prevalence, penetrance, and disease expression of cardiomyopathy-related genetic variants in an unselected, richly phenotyped Mayo Clinic population in the setting of preemptive sequencing, with return of incidental findings following the American College of Medical Genetics and Genomics recommendations.
Patients And Methods: We analyzed a quaternary medical center-based biobank cohort (n=983) for reportable variants in 15 cardiomyopathy genes. Prioritization of genetic variants was performed using an internally developed pipeline to identify potentially reportable variants.
Article Synopsis
- The research links the TUBA4A gene to familial amyotrophic lateral sclerosis (fALS) and fronto-temporal dementia (FTD), identifying pathogenic variants in patients with these conditions.* -
- A study of 448 patients with cerebellar ataxia revealed ultra-rare, likely harmful TUBA4A variants not found in public databases, indicating a potential genetic cause for this condition.* -
- Analysis showed a significant presence of TUBA4A mutations in inherited ataxia cases compared to controls, with experiments on patient-derived fibroblasts revealing disruptions in microtubule organization linked to the mutations.*
Background: Lymphoedema is a chronic and progressive disease characterised by excessive accumulation of lymph in the interstitial compartment, leading to tissue swelling and fibroadipose deposition. Lymphangiogenesis is partly regulated by ketone body oxidation, and a ketogenic diet (KD) has shown therapeutic efficacy in a preclinical mouse tail lymphoedema model. Therefore, we aimed to investigate the potential therapeutic effect of a KD in patients with secondary lymphoedema.
View Article and Find Full Text PDFWheat bran stabilises vitamin A (retinyl palmitate, RP) in oil during storage, but the stabilisation mechanism remains unknown. We here studied the effect of the concentration of RP in oil (0.1-2%) and of RP-enriched oil in the system (5-50%) on the RP retention during accelerated storage of systems with native and toasted wheat bran.
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