Publications by authors named "M de Bruyne"
Usher syndrome (USH) is the most common cause of deafblindness. USH is autosomal recessively inherited and characterized by rod-cone dystrophy or retinitis pigmentosa (RP), often accompanied by sensorineural hearing loss. Variants in >15 genes have been identified as causative for clinically and genetically distinct subtypes.
View Article and Find Full Text PDFPurpose: Evaluating the presence of class 3, 4, and 5 genetic variants in inherited retinal disease (IRD) genes in patients with retinopathy of unknown origin (RUO).
Methods: Multicentric retrospective study of RUO cases diagnosed between January 2012 and February 2022. General and ophthalmologic history, complete ophthalmologic examination, antiretinal antibodies, and IRD gene panel results were analyzed in every patient.
Article Synopsis
- Komagataella phaffii, formerly known as Pichia pastoris, is widely used for producing recombinant proteins for therapeutics and food, but the original strain NRRL Y-11430 is restricted.
- Researchers identified the NCYC 2543 strain from 1954 as a foundation for developing an open-access strain called OPENPichia, designed to enable widespread use without restrictions.
- By modifying the HOC1 gene in NCYC 2543, the team enhanced its ability to take up DNA and improve protein secretion, providing a genome-sequenced strain and a versatile expression vector toolkit for the biotech community.
Aim: To investigate the prevalence of apical periodontitis (AP) and the technical standard of root canal treatment in a Belgian population, assess the association of different variables with periapical status, and compare the results to a similar study conducted 22 years previously.
Methodology: In this cross-sectional study, 614 panoramic radiographs of first-time adult attendees at the Dental School of the University Hospital of Ghent were examined. Recorded patient-level parameters included gender, age, number of teeth, number of root filled teeth, presence of any AP lesion, and number of implants.
Background: 5' untranslated regions (5'UTRs) are essential modulators of protein translation. Predicting the impact of 5'UTR variants is challenging and rarely performed in routine diagnostics. Here, we present a combined approach of a comprehensive prioritization strategy and functional assays to evaluate 5'UTR variation in two large cohorts of patients with inherited retinal diseases (IRDs).
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