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The transcription factor GATA1 regulates NBEAL2 expression through a long-distance enhancer KU Leuven
Gray platelet syndrome is named after the gray appearance of platelets due to absence of alpha(α)-granules. It is caused by recessive mutations in NBEAL2, resulting in macrothrombocytopenia and myelofibrosis. Though using the term gray platelets for GATA1 deficiency has been debated, a reduced number of α-granules has been described for macrothrombocytopenia due to GATA1 mutations. We compared platelet size and number of α-granules for two ...
GATA1 Deficiency and Gene Therapy using Genetically Corrected Hematopoietic Stem Cells KU Leuven
GATA1 deficiëntie is een X-gebonden hematopoietische aandoeninggekenmerkt door een variabele graad van anemie en macrothrombocytopeniemet potentieel lethale bloedingen. De ziekte wordt veroorzaakt door eenmutatie in het GATA1 gen dat codeert voor een transcriptiefactoressentieel in erythropoiese en megakaryocytaire differentiatie. In dezethesis werden twee nieuwe GATA1-gerelateerde aandoeningen bestudeerd:een myelodysplastisch fenotype met ...
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis University of Antwerp
Desbuquois dysplasia (DD) is characterized by antenatal and postnatal short stature, multiple dislocations, and advanced carpal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. We have identified mutations in calcium activated nucleotidase 1 gene (CANT1) in DD type 1. Recently, CANT1 mutations have been reported in the Kim variant of DD, characterized ...
A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc Finger KU Leuven
The GATA1 transcription factor is essential for normal erythropoiesis and megakaryocytic differentiation. Germline GATA1 pathogenic variants in the N-terminal zinc finger (N-ZF) are typically associated with X-linked thrombocytopenia, platelet dysfunction, and dyserythropoietic anemia. A few variants in the C-terminal ZF (C-ZF) domain are described with normal platelet count but altered platelet function as the main characteristic. Independently ...
TAF10 interacts with GATA1 transcription factor and controls mouse erythropoiesis KU Leuven
The ordered assembly of a functional pre-initiation complex (PIC), composed of general transcription factors (GTFs), is a prerequisite for the transcription of protein-coding genes by RNA polymerase II. TFIID, comprised of the TATA binding protein (TBP) and 13 TBP-associated factors (TAFs), is the GTF that is thought to recognize the promoter sequences allowing site-specific PIC assembly. Transcriptional cofactors, such as SAGA, are also ...
Identification of CANT1 Mutations in Desbuquois Dysplasia Ghent University University of Antwerp
Desbuquois dysplasia is a severe condition characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. Studying nine Desbuquois families, we identified seven distinct mutations in the Calcium-Activated Nucleotidase 1 gene (CANT1), which encodes a soluble UDP-preferring nucleotidase belonging to the apyrase family. Among the seven mutations, four were nonsense mutations (Del 5' UTR and exon 1, ...