Zobrazeno 1 - 10
of 103
pro vyhledávání: '"Gil Atzmon"'
Autor:
Matthew Simon, Jiping Yang, Jonathan Gigas, Eric J Earley, Eric Hillpot, Lei Zhang, Maria Zagorulya, Greg Tombline, Michael Gilbert, Samantha L Yuen, Alexis Pope, Michael Van Meter, Stephan Emmrich, Denis Firsanov, Advait Athreya, Seyed Ali Biashad, Jeehae Han, Seungjin Ryu, Archana Tare, Yizhou Zhu, Adam Hudgins, Gil Atzmon, Nir Barzilai, Aaron Wolfe, Kelsey Moody, Benjamin A Garcia, David D Thomas, Paul D Robbins, Jan Vijg, Andrei Seluanov, Yousin Suh, Vera Gorbunova
Publikováno v:
The EMBO journal. 41(21)
Sirtuin 6 (SIRT6) is a deacylase and mono-ADP ribosyl transferase (mADPr) enzyme involved in multiple cellular pathways implicated in aging and metabolism regulation. Targeted sequencing of SIRT6 locus in a population of 450 Ashkenazi Jewish (AJ) cen
Autor:
Sandra Aleksic, Dimpi Desai, Kenny Ye, Sally Duran, Tina Gao, Jill Crandall, Gil Atzmon, Nir Barzilai, Sofiya Milman
Publikováno v:
Aging Cell. 21
Hypothalamic integrity increasingly is being recognized as a marker of healthy longevity in rodent models. Insight into hypothalamic function in humans with exceptional longevity can be gained via investigation of the hypothalamic-pituitary-testicula
Autor:
Shamam, Waldman, Daniel, Backenroth, Éadaoin, Harney, Stefan, Flohr, Nadia C, Neff, Gina M, Buckley, Hila, Fridman, Ali, Akbari, Nadin, Rohland, Swapan, Mallick, Iñigo, Olalde, Leo, Cooper, Ariel, Lomes, Joshua, Lipson, Jorge, Cano Nistal, Jin, Yu, Nir, Barzilai, Inga, Peter, Gil, Atzmon, Harry, Ostrer, Todd, Lencz, Yosef E, Maruvka, Maike, Lämmerhirt, Alexander, Beider, Leonard V, Rutgers, Virginie, Renson, Keith M, Prufer, Stephan, Schiffels, Harald, Ringbauer, Karin, Sczech, Shai, Carmi, David, Reich
Publikováno v:
Cell. 185(25)
We report genome-wide data from 33 Ashkenazi Jews (AJ), dated to the 14
Autor:
George Hindy, Peter Dornbos, Mark D. Chaffin, Dajiang J. Liu, Minxian Wang, Margaret Sunitha Selvaraj, David Zhang, Joseph Park, Carlos A. Aguilar-Salinas, Lucinda Antonacci-Fulton, Diego Ardissino, Donna K. Arnett, Stella Aslibekyan, Gil Atzmon, Christie M. Ballantyne, Francisco Barajas-Olmos, Nir Barzilai, Lewis C. Becker, Lawrence F. Bielak, Joshua C. Bis, John Blangero, Eric Boerwinkle, Lori L. Bonnycastle, Erwin Bottinger, Donald W. Bowden, Matthew J. Bown, Jennifer A. Brody, Jai G. Broome, Noël P. Burtt, Brian E. Cade, Federico Centeno-Cruz, Edmund Chan, Yi-Cheng Chang, Yii-Der I. Chen, Ching-Yu Cheng, Won Jung Choi, Rajiv Chowdhury, Cecilia Contreras-Cubas, Emilio J. Córdova, Adolfo Correa, L. Adrienne Cupples, Joanne E. Curran, John Danesh, Paul S. de Vries, Ralph A. DeFronzo, Harsha Doddapaneni, Ravindranath Duggirala, Susan K. Dutcher, Patrick T. Ellinor, Leslie S. Emery, Jose C. Florez, Myriam Fornage, Barry I. Freedman, Valentin Fuster, Ma. Eugenia Garay-Sevilla, Humberto García-Ortiz, Soren Germer, Richard A. Gibbs, Christian Gieger, Benjamin Glaser, Clicerio Gonzalez, Maria Elena Gonzalez-Villalpando, Mariaelisa Graff, Sarah E. Graham, Niels Grarup, Leif C. Groop, Xiuqing Guo, Namrata Gupta, Sohee Han, Craig L. Hanis, Torben Hansen, Jiang He, Nancy L. Heard-Costa, Yi-Jen Hung, Mi Yeong Hwang, Marguerite R. Irvin, Sergio Islas-Andrade, Gail P. Jarvik, Hyun Min Kang, Sharon L.R. Kardia, Tanika Kelly, Eimear E. Kenny, Alyna T. Khan, Bong-Jo Kim, Ryan W. Kim, Young Jin Kim, Heikki A. Koistinen, Charles Kooperberg, Johanna Kuusisto, Soo Heon Kwak, Markku Laakso, Leslie A. Lange, Jiwon Lee, Juyoung Lee, Seonwook Lee, Donna M. Lehman, Rozenn N. Lemaitre, Allan Linneberg, Jianjun Liu, Ruth J.F. Loos, Steven A. Lubitz, Valeriya Lyssenko, Ronald C.W. Ma, Lisa Warsinger Martin, Angélica Martínez-Hernández, Rasika A. Mathias, Stephen T. McGarvey, Ruth McPherson, James B. Meigs, Thomas Meitinger, Olle Melander, Elvia Mendoza-Caamal, Ginger A. Metcalf, Xuenan Mi, Karen L. Mohlke, May E. Montasser, Jee-Young Moon, Hortensia Moreno-Macías, Alanna C. Morrison, Donna M. Muzny, Sarah C. Nelson, Peter M. Nilsson, Jeffrey R. O’Connell, Marju Orho-Melander, Lorena Orozco, Colin N.A. Palmer, Nicholette D. Palmer, Cheol Joo Park, Kyong Soo Park, Oluf Pedersen, Juan M. Peralta, Patricia A. Peyser, Wendy S. Post, Michael Preuss, Bruce M. Psaty, Qibin Qi, D.C. Rao, Susan Redline, Alexander P. Reiner, Cristina Revilla-Monsalve, Stephen S. Rich, Nilesh Samani, Heribert Schunkert, Claudia Schurmann, Daekwan Seo, Jeong-Sun Seo, Xueling Sim, Rob Sladek, Kerrin S. Small, Wing Yee So, Adrienne M. Stilp, E. Shyong Tai, Claudia H.T. Tam, Kent D. Taylor, Yik Ying Teo, Farook Thameem, Brian Tomlinson, Michael Y. Tsai, Tiinamaija Tuomi, Jaakko Tuomilehto, Teresa Tusié-Luna, Miriam S. Udler, Rob M. van Dam, Ramachandran S. Vasan, Karine A. Viaud Martinez, Fei Fei Wang, Xuzhi Wang, Hugh Watkins, Daniel E. Weeks, James G. Wilson, Daniel R. Witte, Tien-Yin Wong, Lisa R. Yanek, Sekar Kathiresan, Daniel J. Rader, Jerome I. Rotter, Michael Boehnke, Mark I. McCarthy, Cristen J. Willer, Pradeep Natarajan, Jason A. Flannick, Amit V. Khera, Gina M. Peloso
Publikováno v:
Hindy, G, Dornbos, P, Chaffin, M D, Liu, D J, Wang, M, Selvaraj, M S, Zhang, D, Park, J, Aguilar-Salinas, C A, Antonacci-Fulton, L, Ardissino, D, Arnett, D K, Aslibekyan, S, Atzmon, G, Ballantyne, C M, Barajas-Olmos, F, Barzilai, N, Becker, L C, Bielak, L F, Bis, J C, Blangero, J, Boerwinkle, E, Bonnycastle, L L, Bottinger, E, Bowden, D W, Bown, M J, Brody, J A, Broome, J G, Burtt, N P, Cade, B E, Centeno-Cruz, F, Chan, E, Chang, Y C, Chen, Y D I, Cheng, C Y, Choi, W J, Chowdhury, R, Contreras-Cubas, C, Córdova, E J, Correa, A, Cupples, L A, Curran, J E, Danesh, J, de Vries, P S, Grarup, N, Hansen, T, Linneberg, A, Loos, R J F, Pedersen, O, Witte, D R, AMP-T2D-GENES, Myocardial Infarction Genetics Consortium, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium & NHLBI TOPMed Lipids Working Group 2022, ' Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes ', American Journal of Human Genetics, vol. 109, no. 1, pp. 81-96 . https://doi.org/10.1016/j.ajhg.2021.11.021
Am J Hum Genet
Hindy, G, Dornbos, P, Chaffin, M D, Liu, D J, Wang, M, Selvaraj, M S, Zhang, D, Park, J, Aguilar-Salinas, C A, Antonacci-Fulton, L, Ardissino, D, Arnett, D K, Aslibekyan, S, Atzmon, G, Ballantyne, C M, Barajas-Olmos, F, Barzilai, N, Becker, L C, Bielak, L F, Bis, J C, Blangero, J, Boerwinkle, E, Bonnycastle, L L, Bottinger, E, Bowden, D W, Bown, M J, Brody, J A, Broome, J G, Burtt, N P, Cade, B E, Centeno-Cruz, F, Chan, E, Chang, Y C, Chen, Y D I, Cheng, C Y, Choi, W J, Chowdhury, R, Contreras-Cubas, C, Córdova, E J, Correa, A, Cupples, L A, Curran, J E, Danesh, J, de Vries, P S, DeFronzo, R A, Grarup, N, Hansen, T, Pedersen, O, Wang, F F, Witte, D R, AMP-T2D-GENES, Myocardial Infarction Genetics Consortium, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium & NHLBI TOPMed Lipids Working Group 2022, ' Rare coding variants in 35 genes associate with circulating lipid levels—A multi-ancestry analysis of 170,000 exomes ', American Journal of Human Genetics, vol. 109, no. 1, pp. 81-96 . https://doi.org/10.1016/j.ajhg.2021.11.021
Hindy, G, Dornbos, P, Chaffin, M D, Liu, D J, Wang, M, Selvaraj, M S, Zhang, D, Park, J, Aguilar-Salinas, C A, Antonacci-Fulton, L, Ardissino, D, Arnett, D K, Aslibekyan, S, Atzmon, G, Ballantyne, C M, Barajas-Olmos, F, Barzilai, N, Becker, L C, Bielak, L F, Bis, J C, Blangero, J, Boerwinkle, E, Bonnycastle, L L, Bottinger, E, Bowden, D W, Bown, M J, Brody, J A, Broome, J G, Burtt, N P, Cade, B E, Centeno-Cruz, F, Chan, E, Chang, Y-C, Chen, Y-D I, Cheng, C-Y, Choi, W J, Chowdhury, R, Contreras-Cubas, C, Córdova, E J, Correa, A, Cupples, L A, Curran, J E, Danesh, J, de Vries, P S, DeFronzo, R A, Doddapaneni, H, Duggirala, R, Dutcher, S K, Ellinor, P T, Grarup, N, Hansen, T, Pedersen, O, Linneberg, A, Witte, D R & AMP-T2D-GENES, Myocardial Infarction Genetics Consortium 2022, ' Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes ', American Journal of Human Genetics, vol. 109, no. 1, pp. 81-96 . https://doi.org/10.1016/j.ajhg.2021.11.021
Am J Hum Genet
Hindy, G, Dornbos, P, Chaffin, M D, Liu, D J, Wang, M, Selvaraj, M S, Zhang, D, Park, J, Aguilar-Salinas, C A, Antonacci-Fulton, L, Ardissino, D, Arnett, D K, Aslibekyan, S, Atzmon, G, Ballantyne, C M, Barajas-Olmos, F, Barzilai, N, Becker, L C, Bielak, L F, Bis, J C, Blangero, J, Boerwinkle, E, Bonnycastle, L L, Bottinger, E, Bowden, D W, Bown, M J, Brody, J A, Broome, J G, Burtt, N P, Cade, B E, Centeno-Cruz, F, Chan, E, Chang, Y C, Chen, Y D I, Cheng, C Y, Choi, W J, Chowdhury, R, Contreras-Cubas, C, Córdova, E J, Correa, A, Cupples, L A, Curran, J E, Danesh, J, de Vries, P S, DeFronzo, R A, Grarup, N, Hansen, T, Pedersen, O, Wang, F F, Witte, D R, AMP-T2D-GENES, Myocardial Infarction Genetics Consortium, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium & NHLBI TOPMed Lipids Working Group 2022, ' Rare coding variants in 35 genes associate with circulating lipid levels—A multi-ancestry analysis of 170,000 exomes ', American Journal of Human Genetics, vol. 109, no. 1, pp. 81-96 . https://doi.org/10.1016/j.ajhg.2021.11.021
Hindy, G, Dornbos, P, Chaffin, M D, Liu, D J, Wang, M, Selvaraj, M S, Zhang, D, Park, J, Aguilar-Salinas, C A, Antonacci-Fulton, L, Ardissino, D, Arnett, D K, Aslibekyan, S, Atzmon, G, Ballantyne, C M, Barajas-Olmos, F, Barzilai, N, Becker, L C, Bielak, L F, Bis, J C, Blangero, J, Boerwinkle, E, Bonnycastle, L L, Bottinger, E, Bowden, D W, Bown, M J, Brody, J A, Broome, J G, Burtt, N P, Cade, B E, Centeno-Cruz, F, Chan, E, Chang, Y-C, Chen, Y-D I, Cheng, C-Y, Choi, W J, Chowdhury, R, Contreras-Cubas, C, Córdova, E J, Correa, A, Cupples, L A, Curran, J E, Danesh, J, de Vries, P S, DeFronzo, R A, Doddapaneni, H, Duggirala, R, Dutcher, S K, Ellinor, P T, Grarup, N, Hansen, T, Pedersen, O, Linneberg, A, Witte, D R & AMP-T2D-GENES, Myocardial Infarction Genetics Consortium 2022, ' Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes ', American Journal of Human Genetics, vol. 109, no. 1, pp. 81-96 . https://doi.org/10.1016/j.ajhg.2021.11.021
Large-scale gene sequencing studies for complex traits have the potential to identify causal genes with therapeutic implications. We performed gene-based association testing of blood lipid levels with rare (minor allele frequency < 1%) predicted dama
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d53d518c5a9781ccf6a21517fa2887b9
https://hdl.handle.net/20.500.12105/15626
https://hdl.handle.net/20.500.12105/15626
Autor:
Ryan J. Longchamps, Rozenn N. Lemaitre, Traci M. Bartz, Henning Tiemeier, Anna L. Guyatt, Nir Barzilai, A.G. Uitterlinden, A. C. Y. Mak, C M van Duijn, Eric Boerwinkle, Mary F. Feitosa, Stephen S. Rich, Rui Xia, Gil Atzmon, Santiago Rodriguez, Bruce M. Psaty, Dan E. Arking, Chloé Sarnowski, Jerome I. Rotter, Mark O. Goodarzi, Megan L. Grove, Jennifer A. Brody, Joanne M. Murabito, J.B. van Meurs, Mary K. Wojczynski, K. Ye, Aviv Bergman, Nona Sotoodehnia, Tom R. Gaunt, Le Yu, Nathan Pankratz, Myriam Fornage, Najaf Amin, Tim Kacprowski, Kathryn L. Lunetta, Ching-Ti Liu, Jingyun Yang, Kent D. Taylor, Fernando Rivadeneira, David A. Bennett, Kimberley Burrows, S. Y. Yang, Michael A. Province, Wei Shi, C. M. Sitlani, Laura M. Raffield, P. L. De Jager, Leslie A. Lange, Aldi T. Kraja, Linda Broer, John Lane, Christina A. Castellani
Publikováno v:
Longchamps, R J, Yang, S Y, Castellani, C A, Shi, W, Lane, J, Grove, M L, Bartz, T M, Sarnowski, C, Liu, C, Burrows, K, Guyatt, A L, Gaunt, T R, Kacprowski, T, Yang, J, De Jager, P L, Yu, L, Bergman, A, Xia, R, Fornage, M, Feitosa, M F, Wojczynski, M K, Kraja, A T, Province, M A, Amin, N, Rivadeneira, F, Tiemeier, H, Uitterlinden, A G, Broer, L, Van Meurs, J B J, Van Duijn, C M, Raffield, L M, Lange, L, Rich, S S, Lemaitre, R N, Goodarzi, M O, Sitlani, C M, Mak, A C Y, Bennett, D A, Rodriguez, S, Murabito, J M, Lunetta, K L, Sotoodehnia, N, Atzmon, G, Ye, K, Barzilai, N, Brody, J A, Psaty, B M, Taylor, K D, Rotter, J I, Boerwinkle, E, Pankratz, N & Arking, D E 2022, ' Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation ', Human Genetics, vol. 141, no. 1, pp. 127-146 . https://doi.org/10.1007/s00439-021-02394-w
Paediatrics Publications
Human genetics, vol 141, iss 1
Human Genetics, 141(1), 127-146. Springer-Verlag
Human Genetics
Paediatrics Publications
Human genetics, vol 141, iss 1
Human Genetics, 141(1), 127-146. Springer-Verlag
Human Genetics
Mitochondrial DNA copy number (mtDNA-CN) measured from blood specimens is a minimally invasive marker of mitochondrial function that exhibits both inter-individual and intercellular variation. To identify genes involved in regulating mitochondrial fu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::271655c774846c1bff335569b9acbe6b
https://hdl.handle.net/1983/88fc5165-58e5-4d81-a3d0-6c2dc336580a
https://hdl.handle.net/1983/88fc5165-58e5-4d81-a3d0-6c2dc336580a
Autor:
Nir Barzilai, Julie A. Mattison, Ronald S. Swerdloff, Su-Jeong Kim, Pinchas Cohen, Rochelle Buffenstein, Yanhe Lue, Carrie V. Breton, Douglas C. Wallace, Jenna Port, Noel Guerrero, James Hoang, Hemal H. Mehta, Gil Atzmon, Qiuli Bi, Gerardo Navarrete, Kelvin Yen, Kaitlyn N. Lewis, Valter D. Longo, Christina Wang, Sebastian Brandhorst, Junxiang Wan
Publikováno v:
Aging (Albany NY)
Aging, vol 12, iss 12
Aging, vol 12, iss 12
Humanin is a member of a new family of peptides that are encoded by short open reading frames within the mitochondrial genome. It is conserved in animals and is both neuroprotective and cytoprotective. Here we report that in C. elegans the overexpres
Autor:
Zhengdong D. Zhang, Quanwei Zhang, Trina M. Norden-Krichmar, Nicholas J. Schork, Seunggeun Lee, Gil Atzmon, Yousin Suh, Seungjin Ryu, Nir Barzilai, Laura J. Niedernhofer, Jeehae Han, Paul D. Robbins
Publikováno v:
Aging Cell
Gene variants associated with longevity are also associated with protection against cognitive decline, dementia and Alzheimer's disease, suggesting that common physiologic pathways act at the interface of longevity and cognitive function. To test the
Autor:
Julia K. Goodrich, Moriel Singer-Berk, Rachel Son, Abigail Sveden, Jordan Wood, Eleina England, Joanne B. Cole, Ben Weisburd, Nick Watts, Lizz Caulkins, Peter Dornbos, Ryan Koesterer, Zachary Zappala, Haichen Zhang, Kristin A. Maloney, Andy Dahl, Carlos A. Aguilar-Salinas, Gil Atzmon, Francisco Barajas-Olmos, Nir Barzilai, John Blangero, Eric Boerwinkle, Lori L. Bonnycastle, Erwin Bottinger, Donald W. Bowden, Federico Centeno-Cruz, John C. Chambers, Nathalie Chami, Edmund Chan, Juliana Chan, Ching-Yu Cheng, Yoon Shin Cho, Cecilia Contreras-Cubas, Emilio Córdova, Adolfo Correa, Ralph A. DeFronzo, Ravindranath Duggirala, Josée Dupuis, Ma Eugenia Garay-Sevilla, Humberto García-Ortiz, Christian Gieger, Benjamin Glaser, Clicerio González-Villalpando, Ma Elena Gonzalez, Niels Grarup, Leif Groop, Myron Gross, Christopher Haiman, Sohee Han, Craig L. Hanis, Torben Hansen, Nancy L. Heard-Costa, Brian E. Henderson, Juan Manuel Malacara Hernandez, Mi Yeong Hwang, Sergio Islas-Andrade, Marit E. Jørgensen, Hyun Min Kang, Bong-Jo Kim, Young Jin Kim, Heikki A. Koistinen, Jaspal Singh Kooner, Johanna Kuusisto, Soo-Heon Kwak, Markku Laakso, Leslie Lange, Jong-Young Lee, Juyoung Lee, Donna M. Lehman, Allan Linneberg, Jianjun Liu, Ruth J. F. Loos, Valeriya Lyssenko, Ronald C. W. Ma, Angélica Martínez-Hernández, James B. Meigs, Thomas Meitinger, Elvia Mendoza-Caamal, Karen L. Mohlke, Andrew D. Morris, Alanna C. Morrison, Maggie C. Y. Ng, Peter M. Nilsson, Christopher J. O’Donnell, Lorena Orozco, Colin N. A. Palmer, Kyong Soo Park, Wendy S. Post, Oluf Pedersen, Michael Preuss, Bruce M. Psaty, Alexander P. Reiner, Cristina Revilla-Monsalve, Stephen S. Rich, Jerome I. Rotter, Danish Saleheen, Claudia Schurmann, Xueling Sim, Rob Sladek, Kerrin S. Small, Wing Yee So, Timothy D. Spector, Konstantin Strauch, Tim M. Strom, E. Shyong Tai, Claudia H. T. Tam, Yik Ying Teo, Farook Thameem, Brian Tomlinson, Russell P. Tracy, Tiinamaija Tuomi, Jaakko Tuomilehto, Teresa Tusié-Luna, Rob M. van Dam, Ramachandran S. Vasan, James G. Wilson, Daniel R. Witte, Tien-Yin Wong, AMP-T2D-GENES Consortia, Noël P. Burtt, Noah Zaitlen, Mark I. McCarthy, Michael Boehnke, Toni I. Pollin, Jason Flannick, Josep M. Mercader, Anne O’Donnell-Luria, Samantha Baxter, Jose C. Florez, Daniel G. MacArthur, Miriam S. Udler
Publikováno v:
Nature Communications
Goodrich, J K, Singer-Berk, M, Son, R, Sveden, A, Wood, J, England, E, Cole, J B, Weisburd, B, Watts, N, Caulkins, L, Dornbos, P, Koesterer, R, Zappala, Z, Zhang, H, Maloney, K A, Dahl, A, Aguilar-Salinas, C A, Atzmon, G, Barajas-Olmos, F, Barzilai, N, Blangero, J, Boerwinkle, E, Bonnycastle, L L, Bottinger, E, Bowden, D W, Centeno-Cruz, F, Chambers, J C, Chami, N, Chan, E, Chan, J, Cheng, C Y, Cho, Y S, Contreras-Cubas, C, Córdova, E, Correa, A, DeFronzo, R A, Duggirala, R, Dupuis, J, Garay-Sevilla, M E, García-Ortiz, H, Gieger, C, Glaser, B, González-Villalpando, C, Gonzalez, M E, Grarup, N, Groop, L, Gross, M, Hansen, T, Linneberg, A, Pedersen, O & AMP-T2D-GENES Consortia 2021, ' Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes ', Nature Communications, vol. 12, 3505 . https://doi.org/10.1038/s41467-021-23556-4
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Repisalud
Instituto de Salud Carlos III (ISCIII)
Goodrich, J K, Singer-Berk, M, Son, R, Sveden, A, Wood, J, England, E, Cole, J B, Weisburd, B, Watts, N, Caulkins, L, Dornbos, P, Koesterer, R, Zappala, Z, Zhang, H, Maloney, K A, Dahl, A, Aguilar-Salinas, C A, Atzmon, G, Barajas-Olmos, F, Barzilai, N, Blangero, J, Boerwinkle, E, Bonnycastle, L L, Bottinger, E, Bowden, D W, Centeno-Cruz, F, Chambers, J C, Chami, N, Chan, E, Chan, J, Cheng, C Y, Cho, Y S, Contreras-Cubas, C, Córdova, E, Correa, A, DeFronzo, R A, Duggirala, R, Dupuis, J, Garay-Sevilla, M E, García-Ortiz, H, Gieger, C, Glaser, B, González-Villalpando, C, Gonzalez, M E, Grarup, N, Groop, L, Gross, M, Haiman, C A, Han, S, Hanis, C L, Hansen, T, Heard-Costa, N L, Jørgensen, M E, Pedersen, O, Witte, D R & AMP-T2D-GENES Consortia 2021, ' Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes ', Nature Communications, vol. 12, 3505 . https://doi.org/10.1038/s41467-021-23556-4
AMP-T2D-GENES Consortia 2021, ' Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes ', Nature Communications, vol. 12, no. 1, 3505 . https://doi.org/10.1038/s41467-021-23556-4
Goodrich, J K, Singer-Berk, M, Son, R, Sveden, A, Wood, J, England, E, Cole, J B, Weisburd, B, Watts, N, Caulkins, L, Dornbos, P, Koesterer, R, Zappala, Z, Zhang, H, Maloney, K A, Dahl, A, Aguilar-Salinas, C A, Atzmon, G, Barajas-Olmos, F, Barzilai, N, Blangero, J, Boerwinkle, E, Bonnycastle, L L, Bottinger, E, Bowden, D W, Centeno-Cruz, F, Chambers, J C, Chami, N, Chan, E, Chan, J, Cheng, C Y, Cho, Y S, Contreras-Cubas, C, Córdova, E, Correa, A, DeFronzo, R A, Duggirala, R, Dupuis, J, Garay-Sevilla, M E, García-Ortiz, H, Gieger, C, Glaser, B, González-Villalpando, C, Gonzalez, M E, Grarup, N, Groop, L, Gross, M, Hansen, T, Linneberg, A, Pedersen, O & AMP-T2D-GENES Consortia 2021, ' Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes ', Nature Communications, vol. 12, 3505 . https://doi.org/10.1038/s41467-021-23556-4
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Repisalud
Instituto de Salud Carlos III (ISCIII)
Goodrich, J K, Singer-Berk, M, Son, R, Sveden, A, Wood, J, England, E, Cole, J B, Weisburd, B, Watts, N, Caulkins, L, Dornbos, P, Koesterer, R, Zappala, Z, Zhang, H, Maloney, K A, Dahl, A, Aguilar-Salinas, C A, Atzmon, G, Barajas-Olmos, F, Barzilai, N, Blangero, J, Boerwinkle, E, Bonnycastle, L L, Bottinger, E, Bowden, D W, Centeno-Cruz, F, Chambers, J C, Chami, N, Chan, E, Chan, J, Cheng, C Y, Cho, Y S, Contreras-Cubas, C, Córdova, E, Correa, A, DeFronzo, R A, Duggirala, R, Dupuis, J, Garay-Sevilla, M E, García-Ortiz, H, Gieger, C, Glaser, B, González-Villalpando, C, Gonzalez, M E, Grarup, N, Groop, L, Gross, M, Haiman, C A, Han, S, Hanis, C L, Hansen, T, Heard-Costa, N L, Jørgensen, M E, Pedersen, O, Witte, D R & AMP-T2D-GENES Consortia 2021, ' Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes ', Nature Communications, vol. 12, 3505 . https://doi.org/10.1038/s41467-021-23556-4
AMP-T2D-GENES Consortia 2021, ' Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes ', Nature Communications, vol. 12, no. 1, 3505 . https://doi.org/10.1038/s41467-021-23556-4
Hundreds of thousands of genetic variants have been reported to cause severe monogenic diseases, but the probability that a variant carrier develops the disease (termed penetrance) is unknown for virtually all of them. Additionally, the clinical util
Autor:
Sarah Cubaynes, Joanne M. Murabito, Eric S. Orwoll, Iris E. Jansen, Joanna Collerton, Vilmundur Gudnason, Mikko Hurme, Paola Sebastiani, Carol Jagger, Carmen Martin-Ruiz, Douglas P. Kiel, Henne Holstege, Kenny Ye, Pilar Galan, Wolfgang Lieb, Diana van Heemst, Janina Dose, Wanlin Zheng, Ilkka Seppälä, Ashley van der Spek, Jessica D. Faul, Nir Barzilai, David R. Weir, James W. Vaupel, Wiesje M. van der Flier, Dan E. Arking, Terho Lehtimäki, Marja Jylhä, Thomas B. L. Kirkwood, Andrew Kingston, Marcel J. T. Reinders, Jean-François Deleuze, Cornelia M. van Duijn, Hélène Blanché, Anne B. Newman, Chao Nie, Elizabeth J. Becker, Daniel S. Evans, P. Eline Slagboom, Marianne Nygaard, Lene Christiansen, Jean Marie Robine, Junxia Min, Almut Nebel, Tamara B. Harris, Lenore J. Launer, Mary K. Wojczynski, Ellen A. Nohr, Alice M. Arnold, Olli T. Raitakari, Birgit Debrabant, Jerome I. Rotter, Thorkild I. A. Sørensen, André G. Uitterlinden, Steven R. Cummings, Kristin L. Ayers, Jennifer A. Smith, Joris Deelen, Yi Zeng, Chloé Sarnowski, Heather J. Cordell, Karen Davies, Kent D. Taylor, Mika Kähönen, Albert V. Smith, Najaf Amin, Rachel Duncan, Michael A. Province, Leo-Pekka Lyytikäinen, Kathryn L. Lunetta, Kaare Christensen, Sharon L.R. Kardia, Thomas T. Perls, Erin B. Ware, Martijn Huisman, Mary L. Biggs, Marian Beekman, Sven J. van der Lee, David Karasik, Niccolò Tesi, Xiaomin Liu, Gil Atzmon, Claudio Franceschi, Bruce M. Psaty
Publikováno v:
Nature Communications
Nature Communications, Vol 12, Iss 1, Pp 1-1 (2021)
Nature Communications, Vol 12, Iss 1, Pp 1-1 (2021)
Human longevity is heritable, but genome-wide association (GWA) studies have had limited success. Here, we perform two meta-analyses of GWA studies of a rigorous longevity phenotype definition including 11,262/3484 cases surviving at or beyond the ag
Autor:
Paola Sebastiani, Stacy L. Andersen, Gil Atzmon, Anastasia Gurinovich, Stefano Monti, Thomas T. Perls, Harold Bae, John J. Farrell, Nir Barzilai, Annibale Alessandro Puca
Publikováno v:
Bioinformatics
Motivation Over the last decade, more diverse populations have been included in genome-wide association studies. If a genetic variant has a varying effect on a phenotype in different populations, genome-wide association studies applied to a dataset a