Leo Enthoven

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The autosomal dominant myopathy facioscapulohumeral muscular dystrophy (FSHD1, OMIM 158900) is caused by contraction of the D4Z4 repeat array on 4qter. We show that this contraction causes marked hypomethylation of the contracted D4Z4 allele in individuals with FSHD1. Individuals with phenotypic FSHD1, who are clinically identical to FSHD1 but have an(More)
The main characteristic of the postnatal development of the stress system in the rat is the so-called stress hypo-responsive period (SHRP). Lasting from postnatal day (pnd) 4 to pnd 14, this period is characterized by very low basal corticosterone levels and an inability of mild stressors to induce an enhanced ACTH and corticosterone release. During the(More)
One of the striking characteristics of the developing neuroendocrine system of rats and mice is the stress hypo-responsive period (SHRP), i.e. low basal corticosterone secretion and the inability to increase corticosterone in response to mild stressors during the first 2 weeks of life. However, immediately after 24 h of deprivation from maternal care the(More)
In CD1 mice we investigated the hypothalamic-pituitary-adrenal (HPA) axis response to maternal separation for 8 h daily from postnatal d 3 to 5. At d 3 a slow separation-induced corticosterone response developed that peaked after 8 h, and the pups became responsive to stressors. On the second and third day, the response to 8 h separation rapidly attenuated,(More)
Facioscapulohumeral muscular dystrophy (FSHD) progressively affects the facial, shoulder, and upper arm muscles and is associated with contractions of the polymorphic D4Z4 repeat array in 4q35. Recently, we demonstrated that FSHD alleles are hypomethylated at D4Z4. To study potential relationships between D4Z4 hypomethylation and both residual repeat size(More)
Maternal deprivation, a separation of mother and pups for 24 h in the first weeks of life has long-lasting consequences for the glucocorticoid stress system in rats. We examined in male CD1 mice whether the postnatal day (pnd) of deprivation determines the (re)activity of the stress system at weaning under basal and novelty stress conditions. Maternal(More)
Adrenal corticosterone secretion of newborn mice rapidly desensitizes to repeated maternal absence. The present study investigated the effects of novelty exposure, maternal care and genotype on this phenomenon. Maternal separation (MS) took place on postnatal days (pnd) 3-5. In Wistar rats, the degree of novelty in the MS-environment was varied by exposing(More)
As there is little known about age-related changes in the hypothalamic-pituitary-adrenal (HPA) axis of mice, we determined the daily patterns of corticosterone secretion every 2 h, together with adrenocorticotropic hormone (ACTH) release and central HPA axis markers in the morning and evening of 3-, 9- and 16-month-old male C57BL/6J mice. We observed that:(More)
The postnatal development of the mouse is characterized by a period of hypo-responsiveness of the hypothalamic-pituitary-adrenal (HPA) axis to mild stressors. Maternal deprivation (MD) during this period can disrupt the quiescence of the HPA-axis. The present study examined the influence of strain (outbred CD1 vs. inbred C57BL/6J mice) on some central and(More)
We quantified swim postures of mice in relation to their cognitive performance. After training in a water maze, young (5-6 months) and aged (14-16 months) female apolipoprotein E-knockout (apoE0/0) mice and wild type controls were video taped while swimming. Subsequently, angles of body points with the water surface were calculated. Mice with a more(More)