Plasma levels of lecithin:cholesterol acyltransferase and risk offuture coronary artery disease in apparently healthy men and women: aprospective case-control analysis nested in the EPIC-Norfolk populationstudy

Autor: A.G. Holleboom, J.A. Kuivenhoven, M. Vergeer, G.K. Hovingh, J.N. van Miert, N.J. Wareham, J.J.P. Kastelein, K-T. Khaw, S.M. Boekholdt

Publikováno v: Journal of Lipid Research, Vol 51, Iss 2, Pp 416-421 (2010)

LCAT plays a key role in the maturation of HDL, as evidenced by lowHDL-cholesterol levels in carriers of deleterious mutations inLCAT. However, the role of LCAT in atherosclerosis isunclear. We set out to study this in a prospective study. Plasma LCA

Externí odkaz: https://doaj.org/article/af866b6c8066423089388e444fb6b682

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Newly diagnosed and growing subependymal giant cell astrocytoma in adults with tuberous sclerosis complex: Results from the International TOSCA Study

Autor: Jansen, A.C. Belousova, E. Benedik, M.P. Carter, T. Cottin, V. Curatolo, P. D'Amato, L. D'Augères, G.B. De Vries, P.J. Ferreira, J.C. Feucht, M. Fladrowski, C. Hertzberg, C. Jozwiak, S. Lawson, J.A. MacAya, A. Marques, R. Nabbout, R. O'Callaghan, F. Qin, J. Sander, V. Sauter, M. Shah, S. Takahashi, Y. Touraine, R. Youroukos, S. Zonnenberg, B. Kingswood, J.C. Fladrowsk, C. Shinohara, N. Horie, S. Kubota, M. Tohyama, J. Imai, K. Kaneda, M. Kaneko, H. Uchida, Y. Kirino, T. Endo, S. Inoue, Y. Uruno, K. Serdaroglu, A. Yapici, Z. Anlar, B. Altunbasak, S. Lvova, O. Belyaev, O.V. Agranovich, O. Levitina, E.V. Maksimova, Y.V. Karas, A. Jiang, Y. Zou, L. Xu, K. Zhang, Y. Luan, G. Zhang, Y. Wang, Y. Jin, M. Ye, D. Liao, W. Zhou, L. Liu, J. Liao, J. Yan, B. Deng, Y. Jiang, L. Liu, Z. Huang, S. Li, H. Kim, K. Chen, P.-L. Lee, H.-F. Tsai, J.-D. Chi, C.-S. Huang, C.-C. Riney, K. Yates, D. Kwan, P. Likasitwattanakul, S. Nabangchang, C. Krisnachai Chomtho, L.T. Katanyuwong, K. Sriudomkajorn, S. Wilmshurst, J. Segel, R. Gilboa, T. Tzadok, M. Fattal-Valevski, A. Papathanasopoulos, P. Papavasiliou, A.S. Giannakodimos, S. Gatzonis, S. Pavlou, E. Tzoufi, M. Vergeer, A.M.H. Dhooghe, M. Verhelst, H. Roelens, F. Nassogne, M.C. Defresne, P. De Waele, L. Leroy, P. Demonceau, N. Legros, B. Van Bogaert, P. Ceulemans, B. Dom, L. Castelnau, P. De Saint Martin, A. Riquet, A. Milh, M. Cances, C. Pedespan, J.-M. Ville, D. Roubertie, A. Auvin, S. Berquin, P. Richelme, C. Allaire, C. Gueden, S. The Tich, S.N. Godet, B. Ruiz Falco Rojas, M.L. Planas, J.C. Bermejo, A.M. Dura, P.S. Aparicio, S.R. Martinez Gonzalez, M.J. Pison, J.L. Blanco Barca, M.O. Laso, E.L. Luengo, O.A. Aguirre Rodriguez, F.J. Dieguez, I.M. Salas, A.C. Carrera, I.M. Salcedo, E.M. Yoldi Petri, M.E. Candela, R.C. Da Conceicao Carrilho, I. Vieira, J.P. Da Silva Oliveira Monteiro, J.P. Santos De Oliveira Ferreira Leao, M.J. Marceano Ribeiro Luis, C.S. Mendonca, C.P. Endziniene, M. Strautmanis, J. Talvik, I. Canevini, M.P. Gambardella, A. Pruna, D. Buono, S. Fontana, E. Dalla Bernardina, B. Burloiu, C. Bacos Cosma, I.S. Vintan, M.A. Popescu, L. Zitterbart, K. Payerova, J. Bratsky, L. Zilinska, Z. Gruber-Sedlmayr, U. Baumann, M. Haberlandt, E. Rostasy, K. Pataraia, E. Elmslie, F. Johnston, C.A. Crawford, P. Uldall, P. Dahlin, M. Uvebrant, P. Rask, O. Bjoernvold, M. Brodtkorb, E. Sloerdahl, A. Solhoff, R. Gilje Jaatun, M.S. Mandera, M. Radzikowska, E.J. Wysocki, M. Fischereder, M. Kurlemann, G. Wilken, B. Wiemer-Kruel, A. Budde, K. Marquard, K. Knuf, M. Hahn, A. Hartmann, H. Merkenschlager, A. Trollmann, R. on behalf of TOSCA Consortium TOSCA Investigators

The onset and growth of subependymal giant cell astrocytoma (SEGA) in tuberous sclerosis complex (TSC) typically occurs in childhood. There is minimal information on SEGA evolution in adults with TSC. Of 2,211 patients enrolled in TOSCA, 220 of the 8

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::262b9ca1dcff9eddc9415c0657539c92
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2997924

Cathepsin D gene and the risk of Alzheimer's disease: A population-based study and meta-analysis

Autor: C M van Duijn, A. Hofman, Ben A. Oostra, Jeannette M. Vergeer-Drop, Monique M.B. Breteler, Maaike Schuur, Mohammad Arfan Ikram, J. C. van Swieten, Aaron Isaacs

Publikováno v: Neurobiology of Aging, 32(9), 1607-1614. Elsevier Inc.
Neurobiology of Aging, 32(9), 1607-14. Elsevier Science
Schuur, M, Ikram, M A, van Swieten, J C, Isaacs, A, Vergeer-Drop, J M, Hofman, A, Oostra, B A, Breteler, M M B & Van Duijn, C M 2011, ' Cathepsin D gene and the risk of Alzheimer's disease : A population-based study and meta-analysis ', Neurobiology of Aging, vol. 32, no. 9, pp. 1607-1614 . https://doi.org/10.1016/j.neurobiolaging.2009.10.011

Cathepsin D (CTSD) is a gene involved in amyloid precursor protein processing and is considered a candidate for Alzheimer's disease (AD). The aim of the current study was to examine if variation in CTSD increases the risk of AD. We performed a candid

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df3d349aaf9f2a0a86a9bd733c0ec371
https://doi.org/10.1016/j.neurobiolaging.2009.10.011

Fine mapping the CETP region reveals a common intronic insertion associated to HDL-C

Autor: Gonneke Willemsen, Vilmundur Gudnason, Brendan M. Buckley, Peter K. Joshi, Niek Verweij, Gerard Pasterkamp, J. Wouter Jukema, Sander W. van der Laan, Eco J. C. de Geus, Stephen S. Rich, Joshua C. Bis, Eric Boerwinkle, Grant W. Montgomery, James G. Wilson, Veronique Vitart, Eric J.G. Sijbrands, John M. Starr, Bruce M. Psaty, Jeannette M. Vergeer-Drop, Sandosh Padmanabhan, Terho Lehtimäki, Elisabeth M. van Leeuwen, Caroline Hayward, Nicholas G. Martin, Morris A. Swertz, Dan E. Arking, Jouke-Jan Hottenga, James F. Wilson, Andy A.L.J. van Oosterhout, Abbas Dehghan, Ian Ford, Jennifer E. Huffman, Jorma Viikari, Katharina E. Schraut, Igor Rudan, Ingrid B. Borecki, Jennifer A. Brody, Kjell Nikus, Oscar H. Franco, Anton J. M. de Craen, Yuri Milaneschi, Jana V. van Vliet-Ostaptchouk, Brenda W.J.H. Penninx, Albertine J. Oldehinkel, Fernando Rivadeneira, Ian J. Deary, Cornelia M. van Duijn, Andrea J.M. Vermeij-Verdoold, L. Adrienne Cupples, Aaron Isaacs, Dorret I. Boomsma, P. Eline Slagboom, Ozren Polasek, Hamdi Mbarek, André G. Uitterlinden, Harold Snieder, Jerome I. Rotter, Pim van der Harst, Ilja M. Nolte, Mika Kähönen, Blair H. Smith, Albert Hofman, Pau Navarro, Ani Manichaikul, Joris Deelen, Gu Zhu, Monique T. Mulder, Gail Davies, Ivana Kolcic, Serkalem Demissie, Stella Trompet, Albert V. Smith, John Whitfield, Holly Trochet, Gina M. Peloso, Charles C. White, Josyf C. Mychaleckyj, Leslie A. Lange, Qing Duan, Mary F. Feitosa, T.B. Harris, Alan F. Wright, Olli T. Raitakari, Carolina Medina-Gomez, Alanna C. Morrison, Leo-Pekka Lyytikäinen, Aniko Sabo

Publikováno v: van Leeuwen, E M, Mbarek, H, Willemsen, G, de Geus, E J, Milaneschi, Y, Penninx, B W, Hottenga, J-J, Boomsma, D I & Generation Scotland 2015, ' Fine mapping the CETP region reveals a common intronic insertion associated to HDL-C ', NPJ aging and mechanisms of disease, vol. 1, pp. 15011 . https://doi.org/10.1038/npjamd.2015.11
NPJ aging and mechanisms of disease, 1. Springer Nature
Aging and Mechanisms of Disease, 1(1). Nature Publishing Group
NPJ aging and mechanisms of disease, 1. Nature Publishing Group
npj Aging and Mechanisms of Disease, 1:15011. Nature Publishing Group
Npj aging and mechanisms of disease, 1:15011. SPRINGERNATURE
Generation Scotland, Lifelines Cohort Study & CHARGE Lipids Working Group 2015, ' Fine mapping the CETP region reveals a common intronic insertion associated to HDL-C ', npj Aging and Mechanisms of Disease, vol. 1, no. 1, 15011 . https://doi.org/10.1038/npjamd.2015.11
npj Aging and Mechanisms of Disease, 1(1):15011. Nature Publishing Group

Background: Individuals with exceptional longevity and their offspring have significantly larger high-density lipoprotein concentrations (HDL-C) particle sizes due to the increased homozygosity for the I405V variant in the cholesteryl ester transfer

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::967d332bac5450ba693730587860df5f
https://doi.org/10.1038/npjamd.2015.11