Sabine Janssen

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Nephronophthisis-related ciliopathies (NPHP-RC) are degenerative recessive diseases that affect kidney, retina, and brain. Genetic defects in NPHP gene products that localize to cilia and centrosomes defined them as "ciliopathies." However, disease mechanisms remain poorly understood. Here, we identify by whole-exome resequencing, mutations of MRE11,(More)
Noise is pervasive in everyday life and can cause both auditory and non-auditory health effects. Noise-induced hearing loss remains highly prevalent in occupational settings, and is increasingly caused by social noise exposure (eg, through personal music players). Our understanding of molecular mechanisms involved in noise-induced hair-cell and nerve damage(More)
Chronic kidney disease (CKD) represents a major health burden. Its central feature of renal fibrosis is not well understood. By exome sequencing, we identified mutations in FAN1 as a cause of karyomegalic interstitial nephritis (KIN), a disorder that serves as a model for renal fibrosis. Renal histology in KIN is indistinguishable from that of(More)
Surveys have shown that noise from wind turbines is perceived as annoying by a proportion of residents living in their vicinity, apparently at much lower noise levels than those inducing annoyance due to other environmental sources. The aim of the present study was to derive the exposure-response relationship between wind turbine noise exposure in L(den)(More)
Nephronophthisis (NPHP), an autosomal recessive cystic kidney disease, is the most frequent genetic cause for end-stage renal failure in the first three decades of life. Mutations in 13 genes (NPHP1-NPHP11, AHI1, and CC2D2A) cause NPHP with ubiquitous expression of the corresponding proteins consistent with the multiorgan involvement of NPHP-related(More)
BACKGROUND Nephronophthisis associated ciliopathies (NPHP-AC) comprise a group of autosomal recessive cystic kidney diseases that includes nephronophthisis (NPHP), Senior-Loken syndrome (SLS), Joubert syndrome (JBTS), and Meckel-Gruber syndrome (MKS). To date, causative mutations in NPHP-AC have been described for 18 different genes, rendering mutation(More)
Experiments were done in the chloralose-anesthetized, paralyzed, and artificially ventilated rat to determine the cardiovascular responses elicited during chemical stimulation of bed nucleus of the stria terminalis (BST) and to investigate the components of the peripheral autonomic nervous system that mediate these responses. Neurons in BST were selectively(More)
It was investigated whether an angry state, induced by a computer task with harassing comments, would lead to a decrease in cold pressor pain threshold and tolerance in comparison to a neutral situation. It was hypothesized that an increase in cardiovascular activity might partially mediate effects of anger. Furthermore, it was examined whether subjects(More)
Pain usually has a strong negative affective component, which is believed to modulate pain perception. After reviewing theories on the link between negative affect and pain, mechanisms are discussed by which negative affect may either increase or inhibit pain. Possible pain-inhibiting mechanisms are endogenous opioid release, blood pressure reactivity, and(More)