Data from A Sex-Specific Association between a 15q25 Variant and Upper Aerodigestive Tract Cancers

Autor: James D. McKay, Paul Brennan, Paolo Boffetta, Richard B. Hayes, Mia Hashibe, Stefania Boccia, Leticia Fernandez, José Eluf-Neto, Victor Wünsch-Filho, Ana Menezes, Sergio Koifman, Maria Paula Curado, Vladimir Janout, Lenka Foretova, Vladimir Bencko, Alexandru Bucur, Eleonora Fabianova, Jolanta Lissowska, Neonila Szeszenia-Dabrowska, David Zaridze, Wolfgang Ahrens, Claire M. Healy, Ariana Znaor, David I. Conway, Nalin S. Thakker, Cristina Canova, Luigi Barzan, Tatiana V. Macfarlane, Xavier Castellsagué, Antonio Agudo, Kristina Kjaerheim, Lorenzo Richiardi, Ivana Holcátová, Pagona Lagiou, Simone Benhamou, Chu Chen, Stephen M. Schwartz, Renyi Wang, Shen-Chih Chang, Zuo-Feng Zhang, Erich M. Sturgis, Qingyi Wei, Philip Lazarus, Joshua E. Muscat, Marcin Lener, Joanna Trubicka, Jan Lubiński, Wilbert H. M. Peters, Johannes J. Manni, Martin Lacko, Michael D. McClean, Brock Christensen, Karl T. Kelsey, Renato Talamini, Rolando Herrero, Silvia Franceschi, Tomoko Nukui, Shama Buch, Marjorie Romkes, Jingchun Luo, Mark C. Weissler, Andrew F. Olshan, Shu-chun Chuang, Amelie Chabrier, Graham Byrnes, Valerie Gaborieau, Therese Truong, Dan Chen

Background: Sequence variants located at 15q25 have been associated with lung cancer and propensity to smoke. We recently reported an association between rs16969968 and risk of upper aerodigestive tract (UADT) cancers (oral cavity, oropharynx, hypoph

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcba806c5c23f62a06d10c6eeed43e48
https://doi.org/10.1158/1055-9965.c.6515152

Linking prediction models to government ordinances to support hospital operations during the COVID-19 pandemic

Autor: Hayley B. Gershengorn, Monisha C Bhatia, Dipen J. Parekh, Bhavarth Shukla, Kymberlee J Manni, Tanira Ferreira, Samira Patel, Prem R. Warde

Publikováno v: BMJ Health & Care Informatics
BMJ Health & Care Informatics, Vol 28, Iss 1 (2021)

ObjectivesWe describe a hospital’s implementation of predictive models to optimise emergency response to the COVID-19 pandemic.MethodsWe were tasked to construct and evaluate COVID-19 driven predictive models to identify possible planning and resou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9c36dd43a41509e6edca0e9198ccf9e
http://europepmc.org/articles/PMC8111872

Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasis

Autor: Christine Plumeyer, Jérôme Waterval, Ellen Steenackers, Tolunay Beker Aydemir, Robert Cousins, Wim Van Hul, Geert Mortier, Vincent Everts, Timur A. Yorgan, Bjoern Busse, Thorsten Schinke, Vere Borra, Martin Lammens, Gretl Hendrickx, Christophe Hermans, Patrick C. D'Haese, Niels Kamerling, Ineke D. C. Jansen, Johannes J. Manni, Eveline Boudin, Robert J. Stokroos, Geert J. Behets

Publikováno v: PLoS Genetics, Vol 14, Iss 4, p e1007321 (2018)
Plos Genetics, 14,
PLoS genetics
Hendrickx, G, Borra, V M, Steenackers, E, Yorgan, T A, Hermans, C, Boudin, E, Waterval, J J, Jansen, I D C, Aydemir, T B, Kamerling, N, Behets, G J, Plumeyer, C, D'Haese, P C, Busse, B, Everts, V, Lammens, M, Mortier, G, Cousins, R J, Schinke, T, Stokroos, R J, Manni, J J & van Hul, W 2018, ' Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasis ', PLoS Genetics, vol. 14, no. 4, e1007321, pp. e1007321 . https://doi.org/10.1371/journal.pgen.1007321
PLoS Genetics, 14(4):e1007321. Public Library of Science
PLOS Genetics, 14(4):e1007321. Public Library of Science
PLoS Genetics
Plos Genetics, 14, 4, pp.

Hyperostosis Cranialis Interna (HCI) is a rare bone disorder characterized by progressive intracranial bone overgrowth at the skull. Here we identified by whole-exome sequencing a dominant mutation (L441R) in SLC39A14 (ZIP14). We show that L441R ZIP1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::409f65a85f3b0eb34d37e44418518809
https://dare.uva.nl/personal/pure/en/publications/conditional-mouse-models-support-the-role-of-slc39a14-zip14-in-hyperostosis-cranialis-interna-and-in-bone-homeostasis(2e23ef49-ad8c-49f9-b496-c1f29746300e).html

Neurophysiologic, audiometric and vestibular function tests in patients with hyperostosis cranialis interna

Autor: J.J. Waterval, Lucien J. C. Anteunis, Robert J. Stokroos, Danny M. W. Hilkman, Johannes J. Manni, H. Kingma, M.P.H. Bischoff

Publikováno v: Clinical Neurology and Neurosurgery, 115(9), 1701-1708. Elsevier

Objective Hyperostosis cranialis interna (HCI) is an autosomal dominant sclerosing bone dysplasia affecting the skull base and the calvaria, characterized by cranial nerve deficits due to stenosis of neuroforamina. The aim of this study is to describ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9b6300016d745855387949d87d5a52c
https://doi.org/10.1016/j.clineuro.2013.03.008

Bone metabolic activity in hyperostosis cranialis interna measured with (18)F-fluoride PET

Autor: Boudewijn Brans, Jaap Teule, Thijs M. A. Van Dongen, Robert J. Stokroos, Gerrit J. Kemerink, Johannes J. Manni, Jérôme J. Waterval, Fred H. M. Nieman

Publikováno v: European Journal of Nuclear Medicine and Molecular Imaging
European Journal of Nuclear Medicine and Molecular Imaging, 38(5), 884-893. Springer, Cham

Purpose 18F-Fluoride PET/CT is a relatively undervalued diagnostic test to measure bone metabolism in bone diseases. Hyperostosis cranialis interna (HCI) is a (hereditary) bone disease characterised by endosteal hyperostosis and osteosclerosis of the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::293b80b256541a4ba90605195f571f3f
https://doi.org/10.1007/s00259-010-1655-2