Publicaties
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Genpanels, een recente innovatie in de moleculair-genetische laboratoria en een wereld van verschil Universiteit Antwerpen
Voor genetisch heterogene ziektebeelden biedt de toepassing van diagnostische genpanels belangrijke voordelen ten opzichte van het traditionele sequentiële sequeneringsproces. De doorlooptijd is korter en de analysekosten zijn lager. Bovendien kunnen er mogelijk pathogene varianten in verschillende kandidaat-genen tegelijkertijd gedetecteerd worden. Vooral bij de genetische analyse van patiënten met atypische klinische presentaties of met ...
Multiple TaqMan qPCR and droplet digital PCR (ddPCR) diagnostics for pesticide resistance monitoring and management, in the major agricultural pest Tetranychus urticae Universiteit Gent
BACKGROUND Decisions on which pesticide to use in agriculture are expected to become more difficult, as the number of available chemicals is decreasing. For Tetranychus urticae (T. urticae), a major pest for which a number of candidate markers for pesticide resistance are in place, molecular diagnostics could support decision-making for the rational use of acaricides. RESULTS A suite of 12 TaqMan qPCR assays [G314D (GluCl1), G326E, I321T ...
Comparative diagnosis of parasitological, serological, and molecular tests in dourine-suspected horses Instituut voor Tropische Geneeskunde
Study on comparative sensitivity of parasitological, serological, and molecular tests on 237 horses originating from two dourine-suspected districts of Arsi-Bale highlands of Ethiopia was conducted to determine the prevalence of the disease and degree of agreement of the diagnostic tests. Accordingly, the prevalence of the disease was found to be 4.6%, 36.7%, and 47.6% by parasitological Woo test, RoTat 1.2 and 18S PCR tests, respectively. The ...
Comparison of visceral leishmaniasis diagnostic antigens in African and Asian Leishmania donovani reveals extensive diversity and region-specific polymorphisms Instituut voor Tropische Geneeskunde
BACKGROUND: Visceral leishmaniasis (VL), caused by infection with complex, remains a major public health problem in endemic regions of South Asia, East Africa, and Brazil. If untreated, symptomatic VL is usually fatal. Rapid field diagnosis relies principally on demonstration of anti- antibodies in clinically suspect cases. The rK39 immunochromatographic rapid diagnostic test (RDT) is based on rK39, encoded by a fragment of a kinesin-related ...
A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing Universiteit Gent Universiteit Antwerpen
Comparison of Leishmania OligoC-TesT PCR with conventional and real-time PCR for the detection of canine Leishmania infection Instituut voor Tropische Geneeskunde
There is a need for standardization and simplification of the existing methods for molecular detection of Leishmania infantum in the canine reservoir host. The commercially available OligoC-TesT kit incorporates standardized PCR reagents with rapid oligochromatographic dipstick detection of PCR products, and is highly sensitive in humans, but not yet independently validated in dogs. Here we compare the sensitivity of the OligoC-TesT with that of ...
Lack of NKG2D in MAGT1-deficient patients is caused by hypoglycosylation KU Leuven
Mutations in the X-linked gene MAGT1 cause a Congenital Disorder of Glycosylation (CDG), with two distinct clinical phenotypes: a primary immunodeficiency (XMEN disorder) versus intellectual and developmental disability. It was previously established that MAGT1 deficiency abolishes steady-state expression of the immune response protein NKG2D (encoded by KLRK1) in lymphocytes. Here, we show that the reduced steady-state levels of NKG2D are caused ...
Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN) Universiteit Gent
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings KU Leuven
Congenital disorders of glycosylation (CDGs) form a group of rare diseases characterized by hypoglycosylation. We here report the identification of 16 individuals from nine families who have either inherited or de novo heterozygous missense variants in STT3A, leading to an autosomal-dominant CDG. STT3A encodes the catalytic subunit of the STT3A-containing oligosaccharyltransferase (OST) complex, essential for protein N-glycosylation. Affected ...