Germline variant affecting p53β isoforms predisposes to familial cancer

Autor: Stephanie A. Schubert, Dina Ruano, Sebastien M. Joruiz, Jordy Stroosma, Nikolina Glavak, Anna Montali, Lia M. Pinto, Mar Rodríguez-Girondo, Daniela Q. C. M. Barge-Schaapveld, Maartje Nielsen, Bernadette P. M. van Nesselrooij, Arjen R. Mensenkamp, Monique E. van Leerdam, Thomas H. Sharp, Hans Morreau, Jean-Christophe Bourdon, Noel F. C. C. de Miranda, Tom van Wezel

Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)

Abstract Germline and somatic TP53 variants play a crucial role during tumorigenesis. However, genetic variations that solely affect the alternatively spliced p53 isoforms, p53β and p53γ, are not fully considered in the molecular diagnosis of Li-Fr

Externí odkaz: https://doaj.org/article/56ab10ecaf2a481fbf606ffec4b57f89

Clinical Relevance of Genetic Analysis in Patients With Pituitary Adenomas: A Systematic Review

Autor: Medard F. M. van den Broek, Bernadette P. M. van Nesselrooij, Annemarie A. Verrijn Stuart, Rachel S. van Leeuwaarde, Gerlof D. Valk

Publikováno v: Frontiers in Endocrinology, Vol 10 (2019)

Pituitary adenomas (PA) are amongst the most prevalent intracranial tumors, causing complications by hormonal overproduction or deficiency and tumor mass effects, with 95% of cases occurring sporadically. Associated germline mutations (AIP, MEN1, CDK

Externí odkaz: https://doaj.org/article/f2c5d1c2173f4bb38a9112169179ca39

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Development of an experimental apparatus for flat plate drag measurements and considerations for such measurements

Autor: M van Nesselrooij, O W G van Campenhout, B W van Oudheusden, F F J Schrijer, L L M Veldhuis

Publikováno v: Measurement Science and Technology, 33(5)

Accurately measuring small changes in aerodynamic drag over a flat surface stands at the core of the development of technologies capable of reducing turbulent friction drag. A wind tunnel drag measurement system was developed which improves significa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f36d06ef5ef29908db87088372326f46
http://resolver.tudelft.nl/uuid:e973f3e3-f8c0-43ab-b717-c9e1e779d31a

Clues For Genetic Anticipation In Multiple Endocrine Neoplasia Type 1

Autor: Bernadette P M van Nesselrooij, Olaf M. Dekkers, Gerlof D. Valk, Medard F M van den Broek, Wouter W. de Herder, Annemarie A. Verrijn Stuart, Peter H. Bisschop, Bas Havekes, Carolina R. C. Pieterman, Michiel N. Kerstens, Annenienke C van de Ven, Madeleine L. Drent

Publikováno v: van den Broek, M F M, van Nesselrooij, B P M, Pieterman, C R C, Verrijn Stuart, A A, van de Ven, A C, de Herder, W W, Dekkers, O M, Drent, M L, Havekes, B, Kerstens, M N, Bisschop, P H & Valk, G D 2020, ' Clues For Genetic Anticipation In Multiple Endocrine Neoplasia Type 1 ', The Journal of clinical endocrinology and metabolism, vol. 105, no. 7, dgaa257 . https://doi.org/10.1210/clinem/dgaa257
Journal of Clinical Endocrinology and Metabolism, 105, 7
Journal of Clinical Endocrinology and Metabolism, 105(7). Endocrine Society
Journal of Clinical Endocrinology and Metabolism, 105(7), E2491-E2500. ENDOCRINE SOC
Journal of Clinical Endocrinology & Metabolism, 105(7), E2491-E2500. Oxford University Press
Journal of Clinical Endocrinology and Metabolism, 105
Journal of Clinical Endocrinology and Metabolism, 105(7):dgaa257, E2491-E2500. ENDOCRINE SOC
Journal of clinical endocrinology and metabolism, 105(7):dgaa257. The Endocrine Society
The Journal of clinical endocrinology and metabolism, 105(7):dgaa257. The Endocrine Society

Context Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant hereditary disease caused by the loss of function of the MEN1 gene, a tumor-suppressor gene that encodes the protein menin. It is characterized by the occurrence of prima

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2ac70101856ed2321ef91474b5d06b3
https://doi.org/10.1210/clinem/dgaa257