Tom S. Koemans
Radboud University Nijmegen
EHMT1Kleefstra SyndromeMutationGeneticsBiology
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Publications 6
#1Tom S. KoemansH-Index: 5
#2Tjitske KleefstraH-Index: 47
Last. Jamie M. Kramer (UWO: University of Western Ontario)H-Index: 17
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Kleefstra syndrome, caused by haploinsufficiency of euchromatin histone methyltransferase 1 (EHMT1), is characterized by intellectual disability (ID), autism spectrum disorder (ASD), characteristic facial dysmorphisms, and other variable clinical features. In addition to EHMT1 mutations, de novo variants were reported in four additional genes (MBD5, SMARCB1, NR1I3, and KMT2C), in single individuals with clinical characteristics overlapping Kleefstra syndrome. Here, we present a novel cohort of f...
25 CitationsSource
#1Tom S. Koemans (Radboud University Nijmegen)H-Index: 5
#2C. Oppitz (IMP: Research Institute of Molecular Pathology)H-Index: 1
Last. Jamie M. Kramer (UWO: University of Western Ontario)H-Index: 17
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Many insights into the molecular mechanisms underlying learning and memory have been elucidated through the use of simple behavioral assays in model organisms such as the fruit fly, Drosophila melanogaster. Drosophila is useful for understanding the basic neurobiology underlying cognitive deficits resulting from mutations in genes associated with human cognitive disorders, such as intellectual disability (ID) and autism. This work describes a methodology for testing learning and memory using a c...
12 CitationsSource
#1Lot Snijders Blok (Radboud University Nijmegen)H-Index: 4
#2Erik C. Madsen (Duke University)H-Index: 3
Last. Tjitske Kleefstra (Radboud University Nijmegen)H-Index: 47
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Intellectual disability (ID) affects approximately 1%–3% of humans with a gender bias toward males. Previous studies have identified mutations in more than 100 genes on the X chromosome in males with ID, but there is less evidence for de novo mutations on the X chromosome causing ID in females. In this study we present 35 unique deleterious de novo mutations in DDX3X identified by whole exome sequencing in 38 females with ID and various other features including hypotonia, movement disorders, beh...
73 CitationsSource
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#1Varun K GuptaH-Index: 5
#2Lisa ScheunemannH-Index: 1
Last. Stephan J. SigristH-Index: 48
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Polyamines such as spermidine and putrescine are known to promote autophagy and longevity in fruit flies. Similar to many other organisms, Drosophila also display age-induced memory impairment. Here, Gupta et al. find that a decrease in brain polyamines in aging Drosophila is correlated with age-dependent memory impairment. They also find that polyamines in flies' diet can alleviate this impairment, demonstrating a link between polyamines, autophagy and memory decline.
118 CitationsSource
#1Tjitske Kleefstra (Radboud University Nijmegen Medical Centre)H-Index: 47
#2Jamie M. Kramer (Radboud University Nijmegen Medical Centre)H-Index: 17
Last. H. van Bokhoven (Radboud University Nijmegen Medical Centre)H-Index: 67
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Intellectual disability (ID) disorders are genetically and phenotypically highly heterogeneous and present a major challenge in clinical genetics and medicine. Although many genes involved in ID have been identified, the etiology is unknown in most affected individuals. Moreover, the function of most genes associated with ID remains poorly characterized. Evidence is accumulating that the control of gene transcription through epigenetic modification of chromatin structure in neurons has an import...
129 CitationsSource