TREM2 variants in Alzheimer's disease

Autor: Guerreiro, R, Wojtas, A, Bras, J, Carrasquillo, M, Rogaeva, E, Majounie, E, Cruchaga, C, Sassi, C, Kauwe, Js, Lupton, Mk, Ryten, M, Brown, K, Lowe, J, Ridge, Pg, Hammer, Mb, Wakutani, Y, Hazrati, L, Proitsi, P, Newhouse, S, Lohmann, E, Erginel Unaltuna, N, Medway, C, Hanagasi, H, Troakes, C, Gurvit, H, Bilgic, B, Al Sarraj, S, Benitez, B, Cooper, B, Carrell, D, Emre, M, Zou, F, Ma, L, Murray, M, Dickson, D, Younkin, S, Petersen, Rc, Corcoran, Cd, Cai, Y, Oliveira, C, Ribeiro, Mh, Santana, I, Tschanz, Jt, Gibbs, J, Norton, Mc, Kloszewska, I, Mecocci, Patrizia, Soininen, H, Tsolaki, M, Vellas, B, Munger, Rg, Mann, Dm, Pickering Brown, S, Lovestone, S, Beck, J, Mead, S, Collinge, J, Parsons, L, Pocock, J, Morris, Jc, Revesz, T, Lashley, T, Fox, Nc, Rossor, Mn, Grenier Boley, B, Bellenguez, C, Moskvina, V, Sims, R, Harold, D, Williams, J, Lambert, Jc, Amouyel, P, Graff Radford, N, Goate, A, Rademakers, R, Morgan, K, Powell, J, St George Hyslop, P, Singleton, A, Hardy, J, Gerrish, A, Chapman, J, Abraham, R, Hollingworth, P, Hamshere, M, Pahwa, Js, Dowzell, K, Williams, A, Jones, N, Thomas, C, Stretton, A, Morgan, A, Williams, K, Thomas, S, Brayne, C, Rubinsztein, Dc, Gill, M, Lawlor, B, Lynch, A, Passmore, P, Craig, D, Mcguinness, B, Johnston, Ja, Todd, S, Holmes, C, Smith, A, Love, S, Kehoe, Pg, Maier, W, Jessen, F, Heun, R, Kölsch, H, Schürmann, B, Ramirez, A, van den Bussche, H, Heuser, I, Kornhuber, J, Wiltfang, J, Dichgans, M, Frölich, L, Hampel, H, Hüll, M, Rujescu, D, Nowotny, P, Mayo, K, Livingston, G, Bass, Nj, Gurling, H, Mcquillin, A, Gwilliam, R, Deloukas, P, Nöthen, Mm, Holmans, P, O'Donovan, M, Owen, Mj, Zelenika, D, Epelbaum, J, Dartigues, Jf, Tzourio, C, Berr, C, Boland, A, Campion, D, Alpérovitch, A, Lathrop, M, Smith, C, Trabzuni, D, Walker, R, Weale, M.

Publikováno v: The New England journal of medicine

BACKGROUND Homozygous loss-of-function mutations in TREM2, encoding the triggering receptor expressed on myeloid cells 2 protein, have previously been associated with an autosomal recessive form of early-onset dementia. METHODS We used genome, exome,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa6c8092ff8f294daa5201834bda07de
https://www.ncbi.nlm.nih.gov/pubmed/23150934

Common Variants at Abca7, Ms4A6A/Ms4A4E, Epha1, Cd33 and Cd2Ap Are Associated with Alzheimer'S Disease

Autor: Neill R. Graff-Radford, Caroline S. Widdowson, John Hardy, Simon Lovestone, Stefan Schreiber, Ana Frank-García, Amy Gerrish, Kevin Mayo, Alexandra Stretton, Michael John Owen, Minerva M. Carrasquillo, Seth Love, Jade Chapman, Vincent Chouraki, Monique M.B. Breteler, Francesco Panza, Emma R L C Vardy, Ronald C. Petersen, Harald Hampel, S. Nicolhaus, Lenore J. Launer, Michelle K. Lupton, Eckart Rüther, A. David Smith, David C. Rubinsztein, Rebecca Sims, Gill Livingston, Diana Zelenika, Simon Mead, Martin N. Rossor, Hilkka Soininen, Christine Van Broeckhoven, Kristel Sleegers, Thorlakur Jonsson, M. Arfan Ikram, Helen Beaumont, Michael Conlon O'Donovan, Federico Licastro, Sudha Seshadri, Alexander Richards, Nick C. Fox, Markus M. Nöthen, Claudine Berr, T. Feulner, Benedetta Nacmias, Carlos Cruchaga, Peter Passmore, Oscar L. Lopez, Julie Williams, Matthias Riemenschneider, Florence Pasquier, John Gallacher, Didier Hannequin, Sigrid Botne Sando, Jens Wiltfang, Charlene Thomas, Gabriele Siciliano, Maria Barcikowska, Mikko Hiltunen, Carol Brayne, Dobril Ivanov, Anita L. DeStefano, Bernadette McGuinness, Norman Klopp, Gordon K. Wilcock, Aoibhinn Lynch, Wolfgang Maier, Peter Holmans, H.-Erich Wichmann, Giorgio Annoni, Beatrice Arosio, Alison Goate, Sigurbjorn Bjornsson, Karl-Heinz Jöckel, Dan Rujescu, Hugh Gurling, Nigel M. Hooper, Clive Holmes, Andrew McQuillin, Patricia Friedrich, John Powell, Rhian Gwilliam, R. Heun, Jacques Epelbaum, Isabella Heuser, Magda Tsolaki, Dennis W. Dickson, Alberto Pilotto, Stephen Todd, Dominique Campion, Michael Krawczak, Jan O. Aasly, Olivier Hanon, Patrick G. Kehoe, Johannes Kornhuber, Marc Delepine, Peter Paul De Deyn, Britta Schürmann, Brian A. Lawlor, Christophe Tzourio, Richard Abraham, Petra Nowotny, Jean-François Dartigues, Heike Kölsch, Michelangelo Mancuso, Marian L. Hamshere, Zbigniew K. Wszolek, Paola Piccardi, Paolo Bosco, Jean-Charles Lambert, Denise Harold, Frank Jessen, Palmi V. Jonsson, Paola Bossù, Paul Hollingworth, Jon Snaedal, Michael Gill, Onofre Combarros, David M. A. Mann, John C. Morris, Annette L. Fitzpatrick, Christopher Shaw, Alexis Brice, Philippe Amouyel, Elio Scarpini, Lesley Jones, Sebastiaan Engelborghs, Daniela Galimberti, Vincenzo Solfrizzi, V. Shane Pankratz, John Collinge, María J. Bullido, Kristelle Brown, Nicholas Bass, Andrew B. Singleton, Jaspreet Singh Pahwa, Kari Stefansson, Lutz Frölich, Steven G. Younkin, Ignacio Mateo, Annick Alpérovitch, Benjamin Genier-Boley, Ina Giegling, Caterina Riehle, Kimberley Dowzell, Mark Lathrop, Hreinn Stefansson, Sandro Sorbi, Rita Guerreiro, Thomas W. Mühleisen, Karolien Bettens, Michael Hüll, Martin Dichgans, Petroula Proitsi, Panagiotis Deloukas, Valentina Moskvina, Cornelia M. van Duijn, Donald Warden, Victoria Alvarez, Eliecer Coto, Kevin Morgan, Susanne Moebus, Ammar Al-Chalabi, Elisa Porcellini, Stefan Wagenpfeil, Hendrik van den Bussche, John S. K. Kauwe, Stacy Steinberg, David Craig, Nicola Jones, Manuel Mayhaus, Davide Seripa

Publikováno v: Nature genetics 43(5), 429-435 (2011). doi:10.1038/ng.803
Nature Genetics, 43(5), 429-435. Nature Publishing Group
Hollingworth, P, Harold, D, Sims, R, Gerrish, A, Lambert, J-C, Carrasquillo, M M, Abraham, R, Hamshere, M L, Pahwa, J S, Moskvina, V, Dowzell, K, Jones, N, Stretton, A, Thomas, C, Richards, A, Ivanov, D, Widdowson, C, Chapman, J, Lovestone, S, Powell, J, Proitsi, P, Lupton, M K, Brayne, C, Rubinsztein, D C, Gill, M, Lawlor, B, Lynch, A, Brown, K S, Passmore, P A, Craig, D, McGuinness, B, Todd, S, Holmes, C, Mann, D, Smith, A D, Beaumont, H, Warden, D, Wilcock, G, Love, S, Kehoe, P G, Hooper, N M, Vardy, E R L C, Hardy, J, Mead, S, Fox, N C, Rossor, M, Collinge, J, Maier, W, Jessen, F, Ruether, E, Schuermann, B, Heun, R, Koelsch, H, van den Bussche, H, Heuser, I, Kornhuber, J, Wiltfang, J, Dichgans, M, Froelich, L, Hampel, H, Gallacher, J, Huell, M, Rujescu, D, Giegling, I, Goate, A M, Kauwe, J S K, Cruchaga, C, Nowotny, P, Morris, J C, Mayo, K, Sleegers, K, Bettens, K, Engelborghs, S, De Deyn, P P, Van Broeckhoven, C, Livingston, G, Bass, N J, Gurling, H, McQuillin, A, Gwilliam, R, Deloukas, P, Al-Chalabi, A, Shaw, C E, Tsolaki, M, Singleton, A B, Guerreiro, R, Muehleisen, T W, Noethen, M M, Moebus, S, Joeckel, K-H, Klopp, N, Wichmann, H-E, Pankratz, V S, Sando, S B, Aasly, J O, Barcikowska, M, Wszolek, Z K, Dickson, D W, Graff-Radford, N R, Petersen, R C, van Duijn, C M, Breteler, M M B, Ikram, M A, DeStefano, A L, Fitzpatrick, A L, Lopez, O, Launer, L J, Seshadri, S, Berr, C, Campion, D, Epelbaum, J, Dartigues, J-F, Tzourio, C, Alperovitch, A, Lathrop, M, Feulner, T M, Friedrich, P, Riehle, C, Krawczak, M, Schreiber, S, Mayhaus, M, Nicolhaus, S, Wagenpfeil, S, Steinberg, S, Stefansson, H, Stefansson, K, Snaedal, J, Bjornsson, S, Jonsson, P V, Chouraki, V, Genier-Boley, B, Hiltunen, M, Soininen, H, Combarros, O, Zelenika, D, Delepine, M, Bullido, M J, Pasquier, F, Mateo, I, Frank-Garcia, A, Porcellini, E, Hanon, O, Coto, E, Alvarez, V, Bosco, P, Siciliano, G, Mancuso, M, Panza, F, Solfrizzi, V, Nacmias, B, Sorbi, S, Bossu, P, Piccardi, P, Arosio, B, Annoni, G, Seripa, D, Pilotto, A, Scarpini, E, Galimberti, D, Brice, A, Hannequin, D, Licastro, F, Jones, L, Holmans, P A, Jonsson, T, Riemenschneider, M, Morgan, K, Younkin, S G, Owen, M J, O'Donovan, M, Amouyel, P & Williams, J 2011, ' Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease ', Nature Genetics, vol. 43, no. 5, pp. 429-435 . https://doi.org/10.1038/ng.803
Nature genetics
Hollingworth, P, Harold, D, Sims, R, Gerrish, A, Lambert, J C, Carrasquillo, M M, Abraham, R, Hamshere, M L, Pahwa, J S, Moskvina, V, Dowzell, K, Jones, N, Stretton, A, Thomas, C, Richards, A, Ivanov, D, Widdowson, C, Chapman, J, Lovestone, S, Powell, J, Proitsi, P, Lupton, M K, Brayne, C, Rubinsztein, D C, Gill, M, Lawlor, B, Lynch, A, Brown, K S, Passmore, P, Craig, D, McGuinness, B, Todd, S, Holmes, C, Mann, D, Smith, A D, Beaumont, H, Warden, D, Wilcock, G, Love, S, Kehoe, P G, Hooper, N M, Vardy, E R L C, Hardy, J, Mead, S, Fox, N C, Rossor, M, Collinge, J, Maier, W, Jessen, F, Ruther, E, Schurmann, B, Heun, R, Kolsch, H, Van Den Bussche, H, Heuser, I, Kornhuber, J, Wiltfang, J, Dichgans, M, Frolich, L, Hampel, H, Gallacher, J, Hull, M, Rujescu, D, Giegling, I, Goate, A M, Kauwe, J S K, Cruchaga, C, Nowotny, P, Morris, J C, Mayo, K, Sleegers, K, Bettens, K, Engelborghs, S, De Deyn, P P, Van Broeckhoven, C, Livingston, G, Bass, N J, Gurling, H, McQuillin, A, Gwilliam, R, Deloukas, P, Al-Chalabi, A, Shaw, C E, Tsolaki, M, Singleton, A B, Guerreiro, R, Muhleisen, T W, Nothen, M M, Moebus, S, Jockel, K H, Klopp, N, Wichmann, H E, Pankratz, V S, Sando, S B, Aasly, J O, Barcikowska, M, Wszolek, Z K, Dickson, D W, Graff-Radford, N R, Petersen, R C, Van Duijn, C M, Breteler, M M B, Ikram, M A, DeStefano, A L, Fitzpatrick, A L, Lopez, O, Launer, L J, Seshadri, S, Berr, C, Campion, D, Epelbaum, J, Dartigues, J F, Tzourio, C, Alperovitch, A, Lathrop, M, Feulner, T M, Friedrich, P, Riehle, C, Krawczak, M, Schreiber, S, Mayhaus, M, Nicolhaus, S, Wagenpfeil, S, Steinberg, S, Stefansson, H, Stefansson, K, Snaedal, J, Bjornsson, S, Jonsson, P V, Chouraki, V, Genier-Boley, B, Hiltunen, M, Soininen, H, Combarros, O, Zelenika, D, Delepine, M, Bullido, M J, Pasquier, F, Mateo, I, Frank-Garcia, A, Porcellini, E, Hanon, O, Coto, E, Alvarez, V, Bosco, P, Siciliano, G, Mancuso, M, Panza, F, Solfrizzi, V, Nacmias, B, Sorbi, S, Bossu, P, Piccardi, P, Arosio, B, Annoni, G, Seripa, D, Pilotto, A, Scarpini, E, Galimberti, D, Brice, A, Hannequin, D, Licastro, F, Jones, L, Holmans, P A, Jonsson, T, Riemenschneider, M, Morgan, K, Younkin, S G, Owen, M J, O'Donovan, M, Amouyel, P & Williams, J 2011, ' Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease ', Nature Genetics, vol. 43, no. 5, pp. 429-35 . https://doi.org/10.1038/ng.803
Hollingworth, P, Harold, D, Sims, R, Gerrish, A, Lambert, J C, Carrasquillo, M M, Abraham, R, Hamshere, M L, Pahwa, J S, Moskvina, V, Dowzell, K, Jones, N, Stretton, A, Thomas, C, Richards, A, Ivanov, D, Widdowson, C, Chapman, J, Lovestone, S, Powell, J, Proitsi, P, Lupton, M K, Brayne, C, Rubinsztein, D C, Gill, M, Lawlor, B, Lynch, A, Brown, K S, Passmore, P A, Craig, D, McGuinness, B, Todd, S, Holmes, C, Mann, D, Smith, A D, Beaumont, H, Warden, D, Wilcock, G, Love, S, Kehoe, P G, Hooper, N M, Vardy, E R L C, Hardy, J, Mead, S, Fox, N C, Rossor, M, Collinge, J, Maier, W, Jessen, F, Ruther, E, Schurmann, B, Heun, R, Kolsch, H, van den Bussche, H, Heuser, I, Kornhuber, J, Wiltfang, J, Dichgans, M, Frolich, L, Hampel, H, Gallacher, J, Hull, M, Rujescu, D, Giegling, I, Goate, A M, Kauwe, J S K, Cruchaga, C, Nowotny, P, Morris, J C, Mayo, K, Sleegers, K, Bettens, K, Engelborghs, S, de Deyn, P P, Van Broeckhoven, C, Livingston, G, Bass, N J, Gurling, H, McQuillin, A, Gwilliam, R, Deloukas, P, Al-Chalabi, A, Shaw, C E, Tsolaki, M, Singleton, A B, Guerreiro, R, Muhleisen, T W, Nothen, M M, Moebus, S, Jockel, K H, Klopp, N, Wichmann, H E, Pankratz, V S, Sando, S B, Aasly, J O, Barcikowska, M, Wszolek, Z K, Dickson, D W & Graff-Radford, N R A O 2011, ' Common Variants at Abca7, Ms4A6A/Ms4A4E, Epha1, Cd33 and Cd2Ap Are Associated with Alzheimer'S Disease ', Nature Genetics, vol. 43, no. 5, pp. 429-435 . https://doi.org/10.1038/ng.803

We sought to identify new susceptibility loci for Alzheimer's disease through a staged association study (GERAD+) and by testing suggestive loci reported by the Alzheimer's Disease Genetic Consortium (ADGC) in a companion paper. We undertook a combin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfea33b035eebd8e655803794b897217
https://doi.org/10.1038/ng.803

Brothers with constrictive pericarditis - A novel mutation in a rare disease.

Autor: Patil DV; Resident, KEMH - Seth GS medical College and KEM Hospital, Parel, Mumbai, India. Electronic address: devendrapatil161185@gmail.com., Phadke MS; Assistant Professor, KEMH - Seth GS medical College and KEM Hospital, Parel, Mumbai, India., Pahwa JS; Resident, KEMH - Seth GS medical College and KEM Hospital, Parel, Mumbai, India., Dalal AB; Professor and Head, CDFD - Centre for DNA Fingerprinting and Diagnostics, Nampally, Hyderabad, India.

Publikováno v: Indian heart journal [Indian Heart J] 2016 Sep; Vol. 68 Suppl 2, pp. S284-S287. Date of Electronic Publication: 2016 Apr 15.

Simultaneous transcatheter closure of ruptured sinus of Valsalva aneurysm and stent implantation for aortic coarctation.

Autor: Pahwa JS; Department of Cardiology, Seth G S Medical College and King Edward VII Memorial Hospital, Mumbai, India. Electronic address: jivtesh84@gmail.com., Verma G; Department of Cardiology, Seth G S Medical College and King Edward VII Memorial Hospital, Mumbai, India., Phadke MS; Department of Cardiology, Seth G S Medical College and King Edward VII Memorial Hospital, Mumbai, India., Lanjewar CP; Department of Cardiology, Seth G S Medical College and King Edward VII Memorial Hospital, Mumbai, India., Kerkar PG; Department of Cardiology, Seth G S Medical College and King Edward VII Memorial Hospital, Mumbai, India.

Publikováno v: Indian heart journal [Indian Heart J] 2015 Dec; Vol. 67 Suppl 3, pp. S81-4. Date of Electronic Publication: 2015 Dec 18.

No evidence that extended tracts of homozygosity are associated with Alzheimer's disease.

Autor: Sims R; MRC Centre for Neuropyschiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, Cardiff University, Heath Park. simsrc@cardiff.ac.uk, Dwyer S, Harold D, Gerrish A, Hollingworth P, Chapman J, Jones N, Abraham R, Ivanov D, Pahwa JS, Moskvina V, Dowzell K, Thomas C, Stretton A, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuiness B, Todd S, Johnston JA, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Hardy J, Mead S, Fox N, Rossor M, Collinge J, Livingston G, Bass NJ, Gurling H, McQuillin A, Jones L, Holmans PA, O'Donovan M, Owen MJ, Williams J

Publikováno v: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics [Am J Med Genet B Neuropsychiatr Genet] 2011 Dec; Vol. 156B (7), pp. 764-71. Date of Electronic Publication: 2011 Aug 02.