Frederik M. A. van Schaik's research while affiliated with University Medical Center Utrecht and other places
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Publications (2)
Neuronal microexons represent the most highly conserved class of alternative splicing events and their timed expression shapes neuronal biology, including neuronal commitment and differentiation. The six-nt microexon 34ʹ is included in the neuronal form of TAF1 mRNA, which encodes the largest subunit of the basal transcription factor TFIID. In this...
Mutations in the RAS genes are identified in a variety of clinical settings, ranging from somatic mutations in oncology to germline mutations in developmental disorders, also known as ‘RASopathies’, and vascular malformations/overgrowth syndromes. Generally single amino acid substitutions are identified, that result in an increase of the GTP bound...
Citations
... The misregulation of microexons is involved in abnormal brain development, autism, and various cancers. [9][10][11][12][13][14][15] Thus far, the regulatory mechanisms on microexon splicing have been studied with multiple of 3 bp (3x bp) microexons. RBPs, which regulate alternative splicing, are involved in microexon splicing in tissue and disease-specific manners. ...
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... The present subject presented with complex partial seizures at tures combined with overgrowth of surrounding tissues, whose characterization may also include histological description ascribed to lipomas (Eijkelenboom et al., 2019). Most of the identified variants are known pathogenic substitutions with oncogenic behavior, mainly located at residues 12, 13, 61, and 146. ...
