Publications
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Patient with confirmed LEOPARD syndrome developing multiple melanoma KU Leuven
LEOPARD syndrome, also known as Gorlin syndrome II, cardiocutaneous syndrome, lentiginosis profusa syndrome, Moynahan syndrome, was more recently coined as Noonan syndrome with multiple lentigines (NSML), inside the RASopathies. Historically, the acronym LEOPARD refers to the presence of distinctive clinical features such as: lentigines (L), electrocardiographic/conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), ...
Protective BCL11A and HBS1L-MYB polymorphisms in a cohort of 102 Congolese patients suffering from sickle cell anemia KU Leuven
We aimed to investigate the distribution of selected BCL11A and HMIP polymorphisms (SNP's), and to assess the correlation with HPFH in a cohort of sickle cell patients.
Association between sickle cell anemia and alpha thalassemia reveals a high prevalence of the 3.7 triplication in congolese patients than in worldwide series KU Leuven
BACKGROUND: Information about the association with alpha thalassemia in sickle cell patients is unknown in the Democratic Republic of Congo. There is very little data on the alpha thalassemia in patients suffering from sickle cell anemia in Central Africa, and their consequences on the clinical expression of the disease. METHODS: A cross-sectional study was conducted in 106 sickle cell patients living in the country's capital Kinshasa. The ...
Investigating the function of Gdt1p in yeast Golgi glycosylation KU Leuven
The Golgi ion homeostasis is tightly regulated to ensure essential cellular processes such as glycosylation, yet our understanding of this regulation remains incomplete. Gdt1p is a member of the conserved Uncharacterized Protein Family (UPF0016). Our previous work suggested that Gdt1p may function in the Golgi by regulating Golgi Ca(2+)/Mn(2+) homeostasis. NMR structural analysis of the polymannan chains isolated from yeasts showed that the ...
Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects KU Leuven
The biogenesis of the multi-subunit vacuolar-type H(+)-ATPase (V-ATPase) is initiated in the endoplasmic reticulum with the assembly of the proton pore V0, which is controlled by a group of assembly factors. Here, we identify two hemizygous missense mutations in the extracellular domain of the accessory V-ATPase subunit ATP6AP2 (also known as the [pro]renin receptor) responsible for a glycosylation disorder with liver disease, immunodeficiency, ...
Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy KU Leuven
In inherited primary arrhythmia syndromes (PAS) and cardiomyopathies (CMP), the yield of genetic testing varies between 20 and 75% in different diseases according to studies performed in the pre next-generation sequencing (NGS) era. It is unknown whether retesting historical negative samples with NGS techniques is worthwhile. Therefore, we assessed the value of NGS-based panel testing in previously genotype negative-phenotype positive probands. ...