Supplementary Tables 1-3 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

Supplementary Tables 1-3 from A Sex-Specific Association between a 15q25 Variant and Upper Aerodigestive Tract Cancers

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8721470dcc5e3dfc561be38e1fffa538
https://doi.org/10.1158/1055-9965.22435900.v1

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

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

Publikováno v: PLoS Genetics, Vol 14, Iss 4, p e1007321 (2018)

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://doaj.org/article/3da077da62934ead948a9885d5b022b5

Correction: A Genome-Wide Association Study of Upper Aerodigestive Tract Cancers Conducted within the INHANCE Consortium.

Autor: James D. McKay, Therese Truong, Valerie Gaborieau, Amelie Chabrier, Shu-Chun Chuang, Graham Byrnes, David Zaridze, Oxana Shangina, Neonila Szeszenia-Dabrowska, Jolanta Lissowska, Peter Rudnai, Eleonora Fabianova, Alexandru Bucur, Vladimir Bencko, Ivana Holcatova, Vladimir Janout, Lenka Foretova, Pagona Lagiou, Dimitrios Trichopoulos, Simone Benhamou, Christine Bouchardy, Wolfgang Ahrens, Franco Merletti, Lorenzo Richiardi, Renato Talamini, Luigi Barzan, Kristina Kjaerheim, Gary J. Macfarlane, Tatiana V. Macfarlane, Lorenzo Simonato, Cristina Canova, Antonio Agudo, Xavier Castellsagué, Ray Lowry, David I. Conway, Patricia A. McKinney, Claire M. Healy, Mary E. Toner, Ariana Znaor, Maria Paula Curado, Sergio Koifman, Ana Menezes, Victor Wünsch-Filho, José Eluf Neto, Leticia Fernández Garrote, Stefania Boccia, Gabriella Cadoni, Dario Arzani, Andrew F. Olshan, Mark C. Weissler, William K. Funkhouser, Jingchun Luo, Jan Lubiński, Joanna Trubicka, Marcin Lener, Dorota Oszutowska, Stephen M. Schwartz, Chu Chen, Sherianne Fish, David R. Doody, Joshua E. Muscat, Philip Lazarus, Carla J. Gallagher, Shen-Chih Chang, Zuo-Feng Zhang, Qingyi Wei, Erich M. Sturgis, Li-E Wang, Silvia Franceschi, Rolando Herrero, Karl T. Kelsey, Michael D. McClean, Carmen J. Marsit, Heather H. Nelson, Marjorie Romkes, Shama Buch, Tomoko Nukui, Shilong Zhong, Martin Lacko, Johannes J. Manni, Wilbert H. M. Peters, Rayjean J. Hung, John McLaughlin, Lars Vatten, Inger Njølstad, Gary E. Goodman, John K. Field, Triantafillos Liloglou, Paolo Vineis, Francoise Clavel-Chapelon, Domenico Palli, Rosario Tumino, Vittorio Krogh, Salvatore Panico, Carlos A. González, J. Ramón Quirós, Carmen Martínez, Carmen Navarro, Eva Ardanaz, Nerea Larrañaga, Kay-Tee Khaw, Timothy Key, H. Bas Bueno-de-Mesquita, Petra H. M. Peeters, Antonia Trichopoulou, Jakob Linseisen, Heiner Boeing, Göran Hallmans, Kim Overvad, Anne Tjønneland, Merethe Kumle, Elio Riboli, Kristjan Välk, Tõnu Voodern, Andres Metspalu, Diana Zelenika, Anne Boland, Marc Delepine, Mario Foglio, Doris Lechner, Hélène Blanché, Ivo G. Gut, Pilar Galan, Simon Heath, Mia Hashibe, Richard B. Hayes, Paolo Boffetta, Mark Lathrop, Paul Brennan

Publikováno v: PLoS Genetics, Vol 7, Iss 4 (2011)

Externí odkaz: https://doaj.org/article/bd42d7968470441ea3a04a60c4ec4b2e

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