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Your search keyword '"Venselaar H"' showing total 4 results
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4 results on '"Venselaar H"'

1. Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

Author

Kleefstra, T., van Zelst-Stams, W.A., Nillesen, W.M., Cormier-Daire, V., Hogue, G., Foulds, N., van Dooren, M., Willemsen, M.H., Pfundt, R., Turner, A., Wilson, M., McGaughran, J., Rauch, A., Zenker, M., Adam, M.P., Innes, M., Davies, C., Gonzalez-Meneses Lopez, A., Casalone, R., Weber, A., Brueton, L.A., Delicado Navarro, A., Palomares Bralo, M., Venselaar, H., Stegmann, S.P.A., Yntema, H.G., van Bokhoven, H., and Brunner, H.G.

Subjects
Telomeres -- Research, Chromosome deletion -- Research, Haplotypes -- Research, Gene amplification -- Usage, Health
Published
2009

2. Germline activating TYK2mutations in pediatric patients with two primary acute lymphoblastic leukemia occurrences

Author

Waanders, E, Scheijen, B, Jongmans, M C J, Venselaar, H, van Reijmersdal, S V, van Dijk, A H A, Pastorczak, A, Weren, R D A, van der Schoot, C E, van de Vorst, M, Sonneveld, E, Hoogerbrugge, N, van der Velden, V H J, Gruhn, B, Hoogerbrugge, P M, van Dongen, J J M, Geurts van Kessel, A, van Leeuwen, F N, and Kuiper, R P

Abstract

The contribution of genetic predisposing factors to the development of pediatric acute lymphoblastic leukemia (ALL), the most frequently diagnosed cancer in childhood, has not been fully elucidated. Children presenting with multiple de novoleukemias are more likely to suffer from genetic predisposition. Here, we selected five of these patients and analyzed the mutational spectrum of normal and malignant tissues. In two patients, we identified germline mutations in TYK2, a member of the JAK tyrosine kinase family. These mutations were located in two adjacent codons of the pseudokinase domain (p.Pro760Leu and p.Gly761Val). In silicomodeling revealed that both mutations affect the conformation of this autoregulatory domain. Consistent with this notion, both germline mutations promote TYK2 autophosphorylation and activate downstream STAT family members, which could be blocked with the JAK kinase inhibitor I. These data indicate that germline activating TYK2 mutations predispose to the development of ALL.

Published
2017
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3. Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 Australian and New Zealand patients

Author

Roscioli, T., Elakis, G., Cox, T.C., Moon, D.J., Venselaar, H., Turner, A.M., Le, T., Hackett, E., Haan, E., Colley, A., Mowat, D., Worgan, L., Kirk, E.P., Sachdev, R., Thompson, E., Gabbett, M., McGaughran, J., Gibson, K., Gattas, M., Freckmann, M‐L., Dixon, J., Hoefsloot, L., Field, M., Hackett, A., Kamien, B., Edwards, M., Adès, L.C., Collins, F.A., Wilson, M.J., Savarirayan, R., Tan, T.Y., Amor, D.J., McGIllivray, G., White, S.M., Glass, I.A., David, D.J., Anderson, P.J., Gianoutsos, M., and Buckley, M.F.

Published
2013
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