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80 results on '"van der Ven, A. T."'

52. ETV4 Mutation in a Patient with Congenital Anomalies of the Kidney and Urinary Tract

Author

Chen, Jing, primary, Van der Ven, Amelie T., additional, Newman, Joseph A., additional, Vivante, Asaf, additional, Mann, Nina, additional, Aitkenhead, Hazel, additional, Shril, Shirlee, additional, Ityel, Hadas, additional, Schulz, Julian, additional, Schmidt, Johanna Magdalena, additional, Widmeier, Eugen, additional, Gileadi, Opher, additional, Costantini, Frank, additional, Thowfeequ, Shifaan, additional, Wenger, Roland H., additional, Bauer, Stuart B., additional, Lee, Richard S., additional, Lu, Weining, additional, Getwan, Maike, additional, Kaminski, Michael M., additional, Lienkamp, Soeren S., additional, Lifton, Richard P., additional, Tasic, Velibor, additional, Kehinde, Elijah O., additional, and Hildebrandt, Friedhelm, additional

Published
2016
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53. Toxicological Profile of Ultrapure 2,29,3,4,49,5,59- Heptachlorbiphenyl (PCB 180) in Adult Rats

Author

Viluksela, Matti, Heikkinen, Päivi, van der Ven, Leo T. M., Rendel, Filip, Roos, Robert, Esteban, Javier, Korkalainen, Merja, Lensu, Sanna, Miettinen, Hanna M., Savolainen, Kari, Sankari, Satu, Lilienthal, Hellmuth, Adamsson, Annika, Toppari, Jorma, Herlin, Maria, Finnilä, Mikko, Tuukkanen, Juha, Leslie, Heather A., Hamers, Timo, Hamscher, Gerd, Al-Anati, Lauy, Stenius, Ulla, Dervola, Kine-Susann, Bogen, Inger-Lise, Fonnum, Frode, Andersson, Patrik L., Schrenk, Dieter, Halldin, Krister, and Håkansson, Helen

Subjects
rats, lipid, myrkyllisyys, thyroid
Abstract

PCB 180 is a persistent non-dioxin-like polychlorinated biphenyl (NDL-PCB) abundantly present in food and the environment. Risk characterization of NDL-PCBs is confounded by the presence of highly potent dioxin-like impurities. We used ultrapure PCB 180 to characterize its toxicity profile in a 28-day repeat dose toxicity study in young adult rats extended to cover endocrine and behavioral effects. Using a loading dose/maintenance dose regimen, groups of 5 males and 5 females were given total doses of 0, 3, 10, 30, 100, 300, 1000 or 1700 mg PCB 180/kg body weight by gavage. Dose- responses were analyzed using benchmark dose modeling based on dose and adipose tissue PCB concentrations. Body weight gain was retarded at 1700 mg/kg during loading dosing, but recovered thereafter. The most sensitive endpoint of toxicity that was used for risk characterization was altered open field behavior in females; i.e. increased activity and distance moved in the inner zone of an open field suggesting altered emotional responses to unfamiliar environment and impaired behavioral inhibition. Other dose-dependent changes included decreased serum thyroid hormones with associated histopathological changes, altered tissue retinoid levels, decreased hematocrit and hemoglobin, decreased follicle stimulating hormone and luteinizing hormone levels in males and increased expression of DNA damage markers in liver of females. Dose-dependent hypertrophy of zona fasciculata cells was observed in adrenals suggesting activation of cortex. There were gender differences in sensitivity and toxicity profiles were partly different in males and females. PCB 180 adipose tissue concentrations were clearly above the general human population levels, but close to the levels in highly exposed populations. The results demonstrate a distinct toxicological profile of PCB 180 with lack of dioxin-like properties required for assignment of WHO toxic equivalency factor. However, PCB 180 shares several toxicological targets with dioxin-like compounds emphasizing the potential for interactions. peerReviewed

Published
2014

55. Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome.

Author

Weizhen Tan, van der Ven, Amelie T., Braun, Daniela A., Won-Il Choi, Jobst-Schwan, Tilman, Schneider, Ronen, Schmidt, Johanna Magdalena, Widmeier, Eugen, Warejko, Jillian K., Hermle, Tobias, Schapiro, David, Lovric, Svjetlana, Shril, Shirlee, Daga, Ankana, Hildebrandt, Friedhelm, Rao, Jia, Ashraf, Shazia, Heon Yung Gee, Bald, Martin, and Helmchen, Udo

Subjects
*MICROFILAMENT proteins, *NEPHROTIC syndrome, *PHOSPHOLIPASE C, *GENETIC mutation, *HOMOZYGOSITY, *EXOMES, *GENETICS
Abstract

Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of chronic kidney disease. Here, we identified recessive mutations in the gene encoding the actin-binding protein advillin (AVIL) in 3 unrelated families with SRNS. While all AVIL mutations resulted in a marked loss of its actin-bundling ability, truncation of AVIL also disrupted colocalization with F-actin, thereby leading to impaired actin binding and severing. Additionally, AVIL colocalized and interacted with the phospholipase enzyme PLCE1 and with the ARP2/3 actin-modulating complex. Knockdown of AVIL in human podocytes reduced actin stress fibers at the cell periphery, prevented recruitment of PLCE1 to the ARP3-rich lamellipodia, blocked EGF-induced generation of diacylglycerol (DAG) by PLCE1, and attenuated the podocyte migration rate (PMR). These effects were reversed by overexpression of WT AVIL but not by overexpression of any of the 3 patient-derived AVIL mutants. The PMR was increased by overexpression of WT Avil or PLCE1, or by EGF stimulation; however, this increased PMR was ameliorated by inhibition of the ARP2/3 complex, indicating that ARP-dependent lamellipodia formation occurs downstream of AVIL and PLCE1 function. Together, these results delineate a comprehensive pathogenic axis of SRNS that integrates loss of AVIL function with alterations in the action of PLCE1, an established SRNS protein. [ABSTRACT FROM AUTHOR]

Published
2017
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57. Dopamine-dependent behavior in adult rats after perinatal exposure to purity-controlled polychlorinated biphenyl congeners (PCB52 and PCB180)

Author

Lilienthal, Hellmuth, Heikkinen, Paivi, Andersson, Patrik L., van der Ven, Leo T. M., Viluksela, Matti, Lilienthal, Hellmuth, Heikkinen, Paivi, Andersson, Patrik L., van der Ven, Leo T. M., and Viluksela, Matti

Abstract

Since knowledge about toxic effects of non-dioxinlike (NDL) PCBs is fragmentary, regulatory panels have concluded that risk assessment of these congeners is hampered or impossible. As the dopaminergic system is one of the main targets in PCB-related neurotoxic effects after developmental exposure, we selected catalepsy induced by the dopamine receptor blocker haloperidol to characterize effects of the NDL congeners PCB52 and PCB180 in adult offspring from exposed rat dams. Rat dams were treated with PCB congeners by gavage using six dose levels (total doses: PCB52 - 0, 30, 100, 300, 1000 or 3000 mg/kg body wt.; PCB180 - 0, 10, 30, 100, 300, or 1000 mg/kg body wt.) to allow benchmark dose analysis of the results. Testing of adult offspring (starting at 180 days of age) for catalepsy induced by injection with haloperidol revealed slightly prolonged latencies to movement onset in female offspring exposed to PCB52. Exposure to PCB180 resulted in more pronounced effects, with generally reduced latencies in male offspring. These results indicate reduced dopaminergic activity after PCB52 exposure, whereas the outcome for PCB180 may be related to increased extracellular dopamine as reported in the literature. Benchmark dose analyses revealed that both PCB congeners exerted effects mainly at moderate exposure levels. Together, these results underline the importance of effects on the dopaminergic system as indicated by studies in human females after occupational PCB exposure.

Published
2014
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58. Toxicological Profile of Ultrapure 2,2′,3,4,4′,5,5′-Heptachlorbiphenyl (PCB 180) in Adult Rats

Author

Viluksela, Matti, primary, Heikkinen, Päivi, additional, van der Ven, Leo T. M., additional, Rendel, Filip, additional, Roos, Robert, additional, Esteban, Javier, additional, Korkalainen, Merja, additional, Lensu, Sanna, additional, Miettinen, Hanna M., additional, Savolainen, Kari, additional, Sankari, Satu, additional, Lilienthal, Hellmuth, additional, Adamsson, Annika, additional, Toppari, Jorma, additional, Herlin, Maria, additional, Finnilä, Mikko, additional, Tuukkanen, Juha, additional, Leslie, Heather A., additional, Hamers, Timo, additional, Hamscher, Gerd, additional, Al-Anati, Lauy, additional, Stenius, Ulla, additional, Dervola, Kine-Susann, additional, Bogen, Inger-Lise, additional, Fonnum, Frode, additional, Andersson, Patrik L., additional, Schrenk, Dieter, additional, Halldin, Krister, additional, and Håkansson, Helen, additional

Published
2014
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59. Hepatic effects of a highly purified 2,2',3,4,4',5,5'-heptachlorbiphenyl (PCB 180) in male and female rats.

Author

Roos, Robert, Andersson, Patrik L, Halldin, Krister, Håkansson, Helen, Westerholm, Emma, Hamers, Timo, Hamscher, Gerd, Heikkinen, Päivi, Korkalainen, Merja, Leslie, Heather A, Niittynen, Marjo, Sankari, Satu, Schmitz, Hans-Joachim, van der Ven, Leo T M, Viluksela, Matti, Schrenk, Dieter, Roos, Robert, Andersson, Patrik L, Halldin, Krister, Håkansson, Helen, Westerholm, Emma, Hamers, Timo, Hamscher, Gerd, Heikkinen, Päivi, Korkalainen, Merja, Leslie, Heather A, Niittynen, Marjo, Sankari, Satu, Schmitz, Hans-Joachim, van der Ven, Leo T M, Viluksela, Matti, and Schrenk, Dieter

Abstract

PCB 180 (2,2',3,4,4',5,5'-heptachlorobiphenyl) is a persistent and accumulating polychlorinated biphenyl abundantly present in food and the environment. In this study, we used highly purified PCB 180 (dioxinlike impurities: 2.7 ng TEQ(WHO)/g PCB 180) in a 28-day toxicity study in young adult Sprague-Dawley rats. Male and female rats were given total doses of 3, 10, 30, 100, 300, 1000 or 1700 mg/kg b.w. PCB 180 by gavage. Increased liver weights were observed at ≥ 300 mg/kg b.w. in males and females. No increases in serum ALT or ALP activities were found. A significant increase in liver pentoxyresorufin O-dealkylase (PROD) activity was found in males at ≥ 10 mg/kg b.w. and in females at ≥ 30 mg/kg b.w. In both genders, a significant induction of hepatic 7-ethoxyresorufin O-deethylase (EROD) activity was also observed in males at ≥ 10 mg/kg b.w. and in females at ≥ 300 mg/kg b.w. Western blotting showed that mainly cytochromes P450 (CYPs) 2B1/2 and 3A1 were induced while slight effects were seen on CYP1A1, CYP1A2 and CYP1B1. However, no induction of CYP1A1, 1A2 and 1B1 was found on the mRNA level, except for a slight effect in females at 1000 mg/kg b.w. Furthermore, hepatic UDP-glucuronosyltransferases (UGTs) 1A1 and 1A6 were markedly induced in males and slightly induced in females. The hepatic concentrations of apolar retinoids were decreased in males at ≥ 30 mg/kg b.w. and in females at ≥ 300 mg/kg b.w. Taken together our findings show that pure PCB 180 leads to hepatic changes in a dose range which did not cause CYP1A1 induction but causes centrilobular liver hypertrophy, affects drug-metabolizing enzymes involved in the metabolism of exogenous and endogenous substrates and leads to changes in liver retinoid levels. A benchmark dose (BMD) approach is presented in order to model lowest effective dose levels for these effects. Comparison of PCB 180 liver level related to BMDL₅ for hepatic hypertrophy in rats with human data on 'total' hepatic PCB levels in individua

Published
2011
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61. Programmed Effects in Neurobehavior and Antioxidative Physiology in Zebrafish Embryonically Exposed to Cadmium: Observations and Hypothesized Adverse Outcome Pathway Framework.

Author

Ruiter, Sander, Sippel, Josefine, Bouwmeester, Manon C., Lommelaars, Tobias, Beekhof, Piet, Hodemaekers, Hennie M., Bakker, Frank, van den Brandhof, Evert-Jan, Pennings, Jeroen L. A., and van der Ven, Leo T. M.

Subjects
NON-communicable diseases, PHYSIOLOGICAL effects of cadmium, ZEBRA danio, PHYSIOLOGICAL effects of antioxidants, ANTIOXIDANTS & health, PHYSIOLOGY
Abstract

Non-communicable diseases (NCDs) are a major cause of premature mortality. Recent studies show that predispositions for NCDs may arise from early-life exposure to low concentrations of environmental contaminants. This developmental origins of health and disease (DOHaD) paradigm suggests that programming of an embryo can be disrupted, changing the homeostatic set point of biological functions. Epigenetic alterations are a possible underlying mechanism. Here, we investigated the DOHaD paradigm by exposing zebrafish to subtoxic concentrations of the ubiquitous contaminant cadmium during embryogenesis, followed by growth under normal conditions. Prolonged behavioral responses to physical stress and altered antioxidative physiology were observed approximately ten weeks after termination of embryonal exposure, at concentrations that were 50-3200-fold below the direct embryotoxic concentration, and interpreted as altered developmental programming. Literature was explored for possible mechanistic pathways that link embryonic subtoxic cadmium to the observed apical phenotypes, more specifically, the probability of molecular mechanisms induced by cadmium exposure leading to altered DNA methylation and subsequently to the observed apical phenotypes. This was done using the adverse outcome pathway model framework, and assessing key event relationship plausibility by tailored Bradford-Hill analysis. Thus, cadmium interaction with thiols appeared to be the major contributor to late-life effects. Cadmium-thiol interactions may lead to depletion of the methyl donor S-adenosyl-methionine, resulting in methylome alterations, and may, additionally, result in oxidative stress, which may lead to DNA oxidation, and subsequently altered DNA methyltransferase activity. In this way, DNA methylation may be affected at a critical developmental stage, causing the observed apical phenotypes. [ABSTRACT FROM AUTHOR]

Published
2016
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63. Whole-Exome Sequencing Reveals FAT4Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report

Author

van der Ven, Amelie T., Shril, Shirlee, Ityel, Hadas, Vivante, Asaf, Chen, Jing, Hwang, Daw-Yang, Laricchia, Kristen M., Lek, Monkol, Tasic, Velibor, and Hildebrandt, Friedhelm

Abstract

We present the case of a patient of Macedonian origin with unilateral renal agenesis and ureterovesical junction obstruction in combination with further abnormalities including midface hypoplasia, scoliosis as well as camptodactyly of one toe. Whole-exome sequencing analysis revealed compound heterozygous variants in the FAT4gene. Recessive variants in FAT4are a known cause of van Maldergem syndrome (VMS) in which congenital anomalies of the kidney and urinary tract are a less characteristic but common feature. The initial presentation of our patient was not clinically recognizable. However, in view of the molecular findings, the most likely diagnosis is a mild manifestation of VMS. Only very few publications have reported patients with VMS and mutations in FAT4 to date. With this case, we hope to provide further insight into the phenotypic variability of this syndrome.

Published
2017
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72. Ocular squamous cell carcinoma in Simmental cattle in Zimbabwe

Author

Den Otter, Willem, primary, Hill, F. W. Graham, additional, Klein, Wim R., additional, Everse, Linda A., additional, Ruitenberg, E. Joost, additional, Van der Ven, Leo T. M., additional, Koten, Jan Willem, additional, Steerenberg, Peter A., additional, Faber, Joop A. J., additional, and Rutten, Victor P. M. G., additional

Published
1995
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74. Effects of the Antithyroid Agent Propylthiouracil in a Partial Life Cycle Assay with Zebrafish.

Author

Van Der Ven, Leo T. M., Van Den Brandhof, Evert-Jan, Vos, José H., Power, Deborah M., and Wester, Piet W.

Subjects
*ZEBRA danio, *HYDROCARBONS, *POLLUTANTS, *POLYCHLORINATED biphenyls, *THYROID hormones, *AQUATIC organisms, *SEX (Biology), *ORGANS (Anatomy), *SPECIES
Abstract

Some ubiquitous pollutants of the aquatic environment such as PCBs or other polyhalogenated aromatic hydrocarbons, may disrupt the thyroid hormone system. In a partial life cycle assay with zebrafish (Danio rerio), we studied the effects of the reference compound propylthiouracil (PTU) on reproduction, growth and development, histopathology of some target tissues, and plasma thyroid hormone levels. PTU induced a concentration-dependent increase of egg production with a concomitant decrease of mature oocyte size but had no effect on fertilization rate or hatching. In F1, serious dysmorphogenesis was found in 4 dph larvae at the highest PTU level tested (100 mg/L), and there was a dose-dependent decrease in body length and weight at 42 dph (significant at 100 mg/L PTU). At this time, there was also a decreased scale thickness, suggesting inhibited metamorphosis, detectable at 1 mg/L PTU and higher. PTU also induced activation of the thyroid follicles in a concentration-dependent way, in juveniles associated with hyperemia in the thyroid area, and depletion of liver glycogen. Effects in adults were associated with decreased circulating levels of the thyroid hormones T3 and T4. These observations indicate that disruption of the thyroid hormone system may affect the fitness of these aquatic organisms. The zebrafish model may contribute to the identification of thyroid hormone disrupting activity in water samples and also in the interpretation of histological observations in free-ranging fish species. [ABSTRACT FROM AUTHOR]

Published
2006
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78. A New Rat Model of Otitis Media Caused byStreptococcus pneumoniae: Conditions and Application in Immunization Protocols

Author

van der Ven, Leo T. M., van den Dobbelsteen, Germie P. J. M., Nagarajah, Bhawani, van Dijken, Harry, Dortant, Paul M., Vos, Josephus G., and Roholl, Paul J. M.

Abstract

ABSTRACTStreptococcus pneumoniae(pneumococcus [Pn]) can be cultured from up to 50% of acute otitis media (AOM) effusions, and these bacteria are the most common cause of AOM-related complications. With the recent advent of antibiotic-resistant Pn strains, treatment of Pn infections may meet with serious difficulties. Prevention through vaccination, notably for the four most common occurring Pn serotypes in humans (i.e., Pn 6B, Pn 14, Pn 19F, and Pn 23F), is a helpful alternative. Testing of vaccine efficacy should occur in an appropriate animal AOM model, which is presented here. The four involved Pn serotypes are not pathogenic to the rat, which was chosen as the experimental animal for practical reasons. To induce a natural infection (i.e., ascending through the eustachian tube), the mucociliary clearance of the eustachian tube was impaired by infusing histamine into the tympanic cavity on 2 consecutive days before intranasal inoculation of the bacteria. With this simple protocol, high and reproducible infection rates, as determined with bacterial cultures, of Pn-induced AOM (approximately 70%) with the two major Pn serotypes 14 and 19F (Pn 14 and Pn 19F) were obtained, whereas lower infection rates (25 to 50%) with Pn 6B and Pn 23F were obtained. In this model, intranasal priming with pneumococci, as well as subcutaneous vaccination with Pn 14 tetanus toxoid-conjugated polysaccharide, induced a protective effect against the induction of otitis media with these bacteria. This shows that immunity to Pn 14 AOM can be induced by both mucosal and systemic presentations of antigen. In conclusion, we have developed an animal model for Pn-induced AOM, which is suitable for the evaluation of the protecting effect of immunization.

Published
1999
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79. Specificity of autoantibodies in autoimmune thrombocytopenia

Author

van Leeuwen, E. F., van der Ven, J. T., Engelfriet, C. P., von dem Borne, A. E., and Other departments

Abstract

In 42 patients with autoimmune thrombocytopenia (AITP) and a positive direct platelet suspension immunofluorescence test (PSIFT), the antigenic specificity of the autoantibodies was studied. Because the autoantibodies were often not detectable in the serum and additional HLA antibodies may disturb the reaction pattern with the platelet panel, we used eluates prepared from the patients' platelets for this study. Thirty-five patients had antibodies equally reactive with normal platelets, irrespective of their antigenic make-up, but not with the platelets from two Glanzmann's disease patients. Absorption and elution experiments in two patients showed that his was probably not due to the presence of a combination of anti-Zwa and anti-Zwb antibodies. Thus, the majority of autoantibodies against platelets seems to be directed against antigenic determinants not present on Glanzmann's disease platelets, but perhaps located on the platelet-membrane glycoproteins IIb and/or IIIa. In ten patients, antibodies of no, or still unknown, specificity were detected. Three of these had additional antibodies not reactive with the platelets of the two Glanzmann patients

Published
1982

80. Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes

Author

Rufeng Dai, Shrikant Mane, Marcello Scala, Shirlee Shril, Alina C. Hilger, Dervla M. Connaughton, Franziska Kause, Heidi L. Rehm, Bernd Hoppe, Gianluca Piatelli, Stefanie Märzheuser, Makiko Nakayama, Caroline M. Kolvenbach, Richard P. Lifton, Vincenzo Nigro, Luca Schierbaum, Thomas M. Kitzler, Friedhelm Hildebrandt, Eberhard Schmiedeke, Gabriel C. Dworschak, Sophia Schneider, Heiko Reutter, Annalaura Torella, Valeria Capra, Amelie T. van der Ven, Ronen Schneider, Nina Mann, Andrea Accogli, Kolvenbach, C. M., van der Ven, A. T., Kause, F., Shril, S., Scala, M., Connaughton, D. M., Mann, N., Nakayama, M., Dai, R., Kitzler, T. M., Schneider, R., Schierbaum, L., Schneider, S., Accogli, A., Torella, A., Piatelli, G., Nigro, V., Capra, V., Hoppe, B., Marzheuser, S., Schmiedeke, E., Rehm, H. L., Mane, S., Lifton, R. P., Dworschak, G. C., Hilger, A. C., Reutter, H., and Hildebrandt, F.

Subjects
Male, medicine.medical_specialty, Candidate gene, Heart Diseases, Tracheoesophageal fistula, Kidney, digestive system, Gastroenterology, Article, VATER/VACTERL association, 03 medical and health sciences, anorectal malformation (ARM), monogenic disease causation, Genes, X-Linked, Internal medicine, Exome Sequencing, Genetics, medicine, Humans, Genetic Predisposition to Disease, HSP90 Heat-Shock Proteins, Exome, Esophageal Atresia, Genetics (clinical), Exome sequencing, Genetic Association Studies, 030304 developmental biology, Phenocopy, Hemizygote, Homeodomain Proteins, 0303 health sciences, business.industry, exome sequencing (WES), 030305 genetics & heredity, Receptors, Interleukin, medicine.disease, VACTERL association, Phenotype, digestive system diseases, Anorectal Malformations, 3. Good health, DNA-Binding Proteins, Cytoskeletal Proteins, congenital anomalies of the kidneys and urinary tract (CAKUT), HOXD13, Female, business, Tracheoesophageal Fistula, Transcription Factors
Abstract

INTRODUCTION: The acronym VATER/VACTERL refers to the rare non-random association of the following component features (CFs): vertebral defects (V), anorectal malformations (ARM) (A), cardiac anomalies (C), tracheoesophageal fistula with or without esophageal atresia (TE), renal malformations (R), and limb anomalies (L). For the clinical diagnosis the presence of at least three CFs is required, individuals presenting with only two CFs have been categorized as VATER/VACTERL-like. The majority of VATER/VACTERL individuals displays a renal phenotype. Hitherto, variants in FGF8, FOXF1, HOXD13, LPP, TRAP1, PTEN and ZIC3 have been associated with the VATER/VACTERL association; however, large-scale re-sequencing could only confirm TRAP1 and ZIC3 as VATER/VACTERL disease genes, both associated with a renal phenotype. METHODS: In this study, we performed exome sequencing in 21 individuals and their families with a renal VATER/VACTERL or VATER/VACTERL-like phenotype to identify potentially novel genetic causes. RESULTS: Exome analysis identified biallelic and X-chromosomal hemizygous potentially pathogenic variants in six individuals (29%) in B9D1, FREM1, ZNF157, SP8, ACOT9, and TTLL11, respectively. The online tool GeneMatcher revealed another individual with a variant in ZNF157. CONCLUSION: Our study suggests six biallelic and X-chromosomal hemizygous VATER/VACTERL disease gene implicating all six genes in the expression of human renal malformations.

Published
2021

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