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Jornais Acesso aberto

C. H. Claudy, John Bartlett, Xanthus Smith,

... Prints from Hard Negatives, Invited to Snapshot Taft, Lanche Ring Matzen, Varnishing Bromide Pictures, D. O. P. ' ...

1909 - Gale Group | NCCO Photography

Artigo Acesso aberto Revisado por pares

Edson E. Ramírez-Tixe, Faustino Ruíz Díaz, Josué Miler Herrera-Oblitas, Yaneth Cubas-Díaz, Hugo César Tocas-Burga,

... compuestos bioactivos. El objetivo fue aprovechar la hierbaluisa, lanche y stevia producida en la provincia de Chota ... 40 tratamientos, consistente en diez formulaciones con hierbaluisa, lanche y stevia (85:0:15; 80:5:15; ... El tratamiento T7 (30% de hierbaluisa, 55% de lanché y 15% de stevia, tiempo de infusión 244 ...

Tópico(s): Logistics and Transportation Systems

2023 - | Revista Agrotecnológica Amazónica

Artigo Acesso aberto Brasil Produção Nacional

Daniela Baleroni Rodrigues Silva, Cláudia Maria Simões Martinez, Jair Lício Ferreira Santos,

... da sala de aula e hora da refeição/ lanche. O Teste de Friedman e o Teste de ... Transporte e Transições, Transporte e Classe, Transporte e Lanche, Banheiro e Classe, Banheiro e Lanche. As crianças tiveram boa participação na classe, porém, ...

Tópico(s): Inclusion and Disability in Education and Sport

2012 - Associação Brasileira de Pesquisadores em Educação Especial | Revista Brasileira de Educação Especial

Artigo Acesso aberto Revisado por pares

Julie Horowitz, Jack A. Kosmicki, Amy Damask, Deepika Sharma, Genevieve H. L. Roberts, Anne E. Justice, Nilanjana Banerjee, Marie V. Coignet, Ashish Yadav, Joseph B. Leader, Anthony Marcketta, Danny S. Park, Rouel Lanche, Evan K. Maxwell, Spencer C. Knight, Xiaodong Bai, Harendra Guturu, Dylan Sun, Asher K. Haug Baltzell, Fabrício S. P. Kury, Joshua Backman, Ahna R. Girshick, Colm O’Dushlaine, Shannon McCurdy, Raghavendran Partha, Adam J. Mansfield, David A. Turissini, Alexander Li, Miao Zhang, Joelle Mbatchou, Kyoko Watanabe, Lauren Gurski, Shane McCarthy, Hyun Min Kang, Lee Dobbyn, Eli A. Stahl, Anurag Verma, Giorgio Sirugo, Gonçalo R. Abecasis, Michael Cantor, Giovanni Coppola, Andrew Deubler, Aris N. Economides, Katia Karalis, Luca A. Lotta, Alan R. Shuldiner, Christina Beechert, Caitlin Forsythe, Erin D. Fuller, Zhenhua Gu, Michael Lattari, Alexander Lopez, Maria Sotiropoulos Padilla, Manasi Pradhan, Kia Manoochehri, Thomas D. Schleicher, Louis Widom, Sarah E. Wolf, Ricardo H. Ulloa, Amelia Averitt, Dadong Li, Sameer Malhotra, Jeffrey Staples, Suying Bao, Boris Boutkov, Siying Chen, Gisu Eom, Alicia Hawes, Shareef Khalid, Olga Krasheninina, Rouel Lanche, Evan K. Maxwell, George Mitra, Mona Nafde, Sean O’Keeffe, Max Orelus, Razvan Panea, Tommy Polanco, Ayesha Rasool, Jeffrey G. Reid, William Salerno, Jeffrey Staples, Kathie Sun, Jiwen Xin, Joshua Backman, Manuel Allen Revez Ferreira, Arkopravo Ghosh, Christopher E. Gillies, Eric Jorgenson, Hyun Min Kang, Michael D. Kessler, Alexander Li, Nan Lin, Daren Liu, Adam E. Locke, Arden Moscati, Charles Paulding, Carlo Sidore, Bin Ye, Blair Zhang, Andrey Ziyatdinov, Ariane Ayer, Ayşegül Güvenek, George Hindy, Jan Freudenberg, Jonas Bovijn, Julie Horowitz, Kavita Praveen, Manav Kapoor, Mary E. Haas, Moeen Riaz, Niek Verweij, Olukayode Sosina, Parsa Akbari, Priyanka Nakka, Sahar Gelfman, Sujit Gokhale, Tanima De, Veera M. Rajagopal, Gannie Tzoneva, Juan L. Rodriguez‐Flores, Shek Man Chim, Valerio Donato, Daniel Fernandez, Giusy Della Gatta, Alessandro Di Gioia, Kristen E. Howell, Lori Khrimian, Minhee Kim, Héctor Martínez, Lawrence Miloscio, Sheilyn Nunez, Elias Pavlopoulos, Trikaldarshi Persaud, Esteban Chen, Marcus B. Jones, Michelle G. LeBlanc, Jason Mighty, Lyndon J. Mitnaul, Nirupama Nishtala, Nadia Rana, Marylyn D. Ritchie, Marcus B. Jones, Suganthi Balasubramanian, Katherine Siminovitch, William Salerno, Alan R. Shuldiner, Daniel J. Rader, Tooraj Mirshahi, Adam E. Locke, Jonathan Marchini, John D. Overton, David J. Carey, Lukas Habegger, Michael Cantor, Kristin A. Rand, Eurie L. Hong, Jeffrey G. Reid, Catherine A. Ball, Aris Baras, Gonçalo R. Abecasis, Manuel A. R. Ferreira,

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) enters human host cells via angiotensin-converting enzyme 2 (ACE2) and causes coronavirus disease 2019 (COVID-19). Here, through a genome-wide association study, we identify a variant (rs190509934, minor allele frequency 0.2-2%) that downregulates ACE2 expression by 37% (P = 2.7 × 10-8) and reduces the risk of SARS-CoV-2 infection by 40% (odds ratio = 0.60, P = 4.5 × 10-13), providing human genetic evidence that ACE2 expression levels influence COVID- ...

Tópico(s): Adipokines, Inflammation, and Metabolic Diseases

2022 - Nature Portfolio | Nature Genetics

Artigo Acesso aberto Brasil Produção Nacional Revisado por pares

Amanda Teixeira, Sônia Tucunduva Philippi, Greisse Viero da Silva Leal, Erica Lie Araki, Camilla de Chermont Próchnik Estima, Roberta Elisa R. Guerreiro,

... de substituição do almoço e do jantar por lanche e os alimentos substitutos. Foram aferidos o peso ... do almoço (40%) e do jantar (70%) por lanche entre adolescentes obesos. Sanduíches, salgados, pizzas e hambúrgueres ...

Tópico(s): Indigenous Health and Education

2012 - Elsevier BV | Revista Paulista de Pediatria

Artigo Acesso aberto Brasil Produção Nacional Revisado por pares

Maria Alice Altenburg de Assis, Jucemar Benedet, Raquel Kerpel, Francisco de Assis Guedes de Vasconcelos, Patrícia Faria Di Pietro, Emil Kupek,

... consumidos em três refeições escolares do dia anterior (lanche da manhã, almoço, lanche da tarde). Análise de regressão logística multivariada foi ...

Tópico(s): Consumer Attitudes and Food Labeling

2009 - Escola Nacional de Saúde Pública, Fundação Oswaldo Cruz | Cadernos de Saúde Pública

Artigo Acesso aberto Brasil Produção Nacional

Valéria Cristina Ribeiro Vieira, Silvia Eloíza Priore, Sônia Machado Rocha Ribeiro, Sylvia do Carmo Castro Franceschini,

... mais omitida, entretanto, a maioria o substituía por lanche. Omissão do jantar e realização do lanche da tarde foram mais freqüentes entre as adolescentes ( ...

Tópico(s): Healthcare Regulation

2005 - Instituto Materno Infantil de Pernambuco | Revista Brasileira de Saúde Materno Infantil

Artigo Acesso aberto Brasil Produção Nacional

Carolina Abreu de Carvalho, Poliana Cristina de Almeida Fonseca Viola, Fernanda Pacheco de Oliveira, Ariane de Almeida Coelho, Soraia Pinheiro Machado Arruda,

... outra privada. Realizaram-se recordatórios alimentares específicos do lanche escolar referentes aos últimos três dias em que ... foi fixado em 5%.Resultados:O consumo de lanche escolar foi relatado por 69,5% dos adolescentes. A maioria adquiria esse lanche nas cantinas das escolas: privada (76,0%) e ... grupo, o que sugere a baixa qualidade do lanche consumido por esses adolescentes.

Tópico(s): Food, Nutrition, and Cultural Practices

2014 - Instituto de Estudos em Saúde Coletiva da Universidade Federal do Rio de Janeiro | Cadernos Saúde Coletiva

Artigo

Kathie Sun, Xiaodong Bai, Siying Chen, Suying Bao, Chuanyi Zhang, Manav Kapoor, Joshua Backman, Tyler Joseph, Evan K. Maxwell, George Mitra, Alexander Gorovits, Adam J. Mansfield, Boris Boutkov, Sujit Gokhale, Lukas Habegger, Anthony Marcketta, Adam E. Locke, Liron Ganel, Alicia Hawes, Michael D. Kessler, Deepika Sharma, Jeffrey Staples, Jonas Bovijn, Sahar Gelfman, Alessandro Di Gioia, Veera M. Rajagopal, Alexander Lopez, Jennifer Rico Varela, Jesús Alegre-Díaz, Jaime Berúmen, Roberto Tapia‐Conyer, Pablo Kuri‐Morales, Jason Torres, Jonathan Emberson, Rory Collins, Gonçalo R. Abecasis, Giovanni Coppola, Andrew Deubler, Aris Economides, Adolfo A. Ferrando, Luca A. Lotta, Alan R. Shuldiner, Katherine Siminovitch, Christina Beechert, Erin D. Brian, Laura M. Cremona, Hang Du, Caitlin Forsythe, Zhenhua Gu, Kristy Guevara, Michael Lattari, Kia Manoochehri, Prathyusha Challa, Manasi Pradhan, Raymond Reynoso, Ricardo Schiavo, Maria Sotiropoulos Padilla, Chenggu Wang, Sarah E. Wolf, Amelia Averitt, Nilanjana Banerjee, Dadong Li, Sameer Malhotra, Justin Mower, Mudasar Sarwar, Jeffrey C. Staples, Sean Yu, Aaron Zhang, Andrew Bunyea, Krishna Pawan Punuru, Sanjay Sreeram, Gisu Eom, Benjamin Sultan, Rouel Lanche, Vrushali Mahajan, Eliot Austin, Sean O’Keeffe, Razvan Panea, Tommy Polanco, Ayesha Rasool, Lance Zhang, Evan Edelstein, Ju Guan, Olga Krasheninina, Samantha Zarate, Adam J. Mansfield, Evan K. Maxwell, Kathie Sun, Manuel Allen Revez Ferreira, Kathy Burch, Adrián I. Campos, Lei Chen, Sam Choi, Amy Damask, Sheila Gaynor, Benjamin Geraghty, Arkopravo Ghosh, Salvador Romero Martinez, Christopher E. Gillies, Lauren Gurski, Joseph Herman, Eric Jorgenson, Michael D. Kessler, Jack A. Kosmicki, Nan Lin, Adam E. Locke, Priyanka Nakka, Karl Landheer, Olivier Delaneau, Maya Ghoussaini, Joelle Mbatchou, Arden Moscati, Aditeya Pandey, Anita Pandit, Charles Paulding, Jonathan Ross, Carlo Sidore, Eli Stahl, Maria Suciu, Peter VandeHaar, Sailaja Vedantam, Scott Vrieze, Jingning Zhang, Rujin Wang, Kuan-Han Wu, Bin Ye, Blair Zhang, Andrey Ziyatdinov, Yuxin Zou, Kyoko Watanabe, Mira Tang, Brian D. Hobbs, Jon Silver, William Palmer, Rita Guerreiro, Amit D. Joshi, Antoine Baldassari, Cristen J. Willer, Sarah E. Graham, Ernst Mayerhofer, Mary E. Haas, Niek Verweij, George Hindy, Tanima De, Parsa Akbari, Luanluan Sun, Olukayode Sosina, Arthur Gilly, Peter Dornbos, Juan L. Rodriguez‐Flores, Moeen Riaz, Gannie Tzoneva, Momodou W. Jallow, Anna Alkelai, Ariane Ayer, Veera M. Rajagopal, Vijay Kumar, Jacqueline M. Otto, Neelroop Parikshak, Aysegul Guvenek, José Brás, Silvia Álvarez, Jessie Brown, Jing He, Hossein Khiabanian, Joana Revez, Kimberly Skead, Valentina A. Zavala, Lyndon J. Mitnaul, Marcus B. Jones, Esteban Chen, Michelle G. LeBlanc, Jason Mighty, Nirupama Nishtala, Nadia A. Rana, Jennifer Rico‐Varela, Jaimee Hernandez, Alison Fenney, Randi Schwartz, Jody Hankins, Samuel F. M. Hart, Ann Perez-Beals, Gina Solari, Johannie Rivera-Picart, Michelle Pagan, Sunilbe Siceron, David I. Gwynne, Jerome I. Rotter, Robert Weinreb, Jonathan L. Haines, Margaret A. Pericak‐Vance, Dwight Stambolian, Nir Barzilai, Yousin Suh, Zhengdong Zhang, Elliot Hong, Braxton D. Mitchell, Nicholas B. Blackburn, Simon Broadley, Marzena J. Fabis‐Pedrini, Vilija Jokubaitis, Allan G. Kermode, Trevor J. Kilpatrick, Jeannette Lechner‐Scott, Stephen J Leslie, Bennet J. McComish, Allan Motyer, Grant P. Parnell, Rodney J. Scott, Bruce Taylor, Justin P. Rubio, Danish Saleheen, Ken Kaufman, Leah C. Kottyan, Lisa W. Martin, Marc E. Rothenberg, Abdullah Mahmood Ali, Azra Raza, Jonathan Cohen, Adam R. Glassman, William E. Kraus, Christopher B. Newgard, Svati H. Shah, Jamie E. Craig, Alex W. Hewitt, Naga Chalasani, Tatiana Foroud, Suthat Liangpunsakul, Nancy J. Cox, M. Eileen Dolan, Omar El-Charif, Lois B. Travis, Heather E. Wheeler, Eric R. Gamazon, Lori C. Sakoda, John S. Witte, Kostantinos Lazaridis, Adam H. Buchanan, David J. Carey, Christa Lese Martin, Michelle N. Meyer, Kyle Retterer, David D.K. Rolston, Nirmala Akula, Emily Besançon, Sevilla D. Detera‐Wadleigh, Layla Kassem, Francis J. McMahon, Thomas G. Schulze, Allan Gordon, Maureen E. Smith, John Varga, Yuki Bradford, Scott M. Damrauer, Stephanie DerOhannessian, Theodore G. Drivas, Scott Dudek, Joseph Dunn, Ned Haubein, Renae Judy, Yi-An Ko, Colleen M. Kripke, Meghan Livingstone, Nawar Naseer, Kyle P. Nerz, Afiya Poindexter, Marjorie Risman, Salma Santos, Giorgio Sirugo, Julia Stephanowski, Teo Tran, Fred Vadivieso, Anurag Verma, Shefali S. Verma, JoEllen Weaver, Colin Wollack, Daniel J. Rader, Marylyn D. Ritchie, Joan M. O’Brien, Erwin P. Böttinger, Judy H. Cho, S. Louis Bridges, Robert P. Kimberly, Marlena S. Fejzo, Richard A. Spritz, James T. Elder, Rajan P. Nair, Philip E. Stuart, Lam C. Tsoi, Robert Dent, Ruth McPherson, Brendan J. Keating, Erin E. Kershaw, Georgios I. Papachristou, David C. Whitcomb, Shervin Assassi,

Abstract Rare coding variants that substantially affect function provide insights into the biology of a gene 1–3 . However, ascertaining the frequency of such variants requires large sample sizes 4–8 . Here we present a catalogue of human protein-coding variation, derived from exome sequencing of 983,578 individuals across diverse populations. In total, 23% of the Regeneron Genetics Center Million Exome (RGC-ME) data come from individuals of African, East Asian, Indigenous American, Middle Eastern and ...

Nature Portfolio

Artigo

Andrey Ziyatdinov, Jason Torres, Jesús Alegre-Díaz, Joshua Backman, Joelle Mbatchou, Michael P. Turner, Sheila Gaynor, Tyler Joseph, Yuxin Zou, Daren Liu, Rachel Wade, Jeffrey Staples, Razvan Panea, Alex Popov, Xiaodong Bai, Suganthi Balasubramanian, Lukas Habegger, Rouel Lanche, Alex Lopez, Evan K. Maxwell, Marcus B. Jones, Humberto Garcia‐Ortíz, Raúl Ramírez-Reyes, Rogelio Santacruz-Benítez, Abhishek Nag, Katherine R. Smith, Amy Damask, Nan Lin, Charles Paulding, Mark Reppell, Sebastian Zöllner, Eric Jorgenson, William Salerno, Slavé Petrovski, John D. Overton, Jeffrey G. Reid, Timothy A. Thornton, Gonçalo R. Abecasis, Jaime Berúmen, Lorena Orozco, Rory Collins, Gonçalo R. Abecasis, Adolfo A. Ferrando, Michael Cantor, Giovanni Coppola, Andrew Deubler, Aris N. Economides, Katia Karalis, Luca A. Lotta, Lyndon J. Mitnaul, John D. Overton, Jeffrey G. Reid, Alan R. Shuldiner, Katherine Siminovitch, Christina Beechert, Erin D. Brian, Laura M. Cremona, Hang Du, Caitlin Forsythe, Zhenhua Gu, Kristy Guevara, Michael Lattari, Alexander Lopez, Kia Manoochehri, Manasi Pradhan, Raymond Reynoso, Ricardo Schiavo, Maria Sotiropoulos Padilla, Chenggu Wang, Sarah E. Wolf, Amelia Averitt, Nilanjana Banerjee, Dadong Li, Sameer Malhotra, Justin Mower, Mudasar Sarwar, Deepika Sharma, Jeffrey Staples, Jay Sundaram, Sean Yu, Aaron Zhang, Mona Nafde, George Mitra, Sujit Gokhale, Andrew Bunyea, Janice Clauer, Krishna Pawan Punuru, Sanjay Sreeram, Gisu Eom, Benjamin Sultan, Vrushali Mahajan, Eliot Austin, Koteswararao Makkena, Sean O’Keeffe, Tommy Polanco, Ayesha Rasool, William Salerno, Lance Zhang, Boris Boutkov, Evan Edelstein, Alexander Gorovits, Ju Guan, Alicia Hawes, Olga Krasheninina, Adam J. Mansfield, Evan K. Maxwell, Suying Bao, Kathie Sun, Chuanyi Zhang, Manuel Allen Revez Ferreira, Kathy Burch, Adrián I. Campos, Lei Chen, Sam Choi, Liron Ganel, Sheila Gaynor, Benjamin Geraghty, Akropravo Ghosh, Salvador Romero Martinez, Christopher E. Gillies, Lauren Gurski, Joseph Herman, Michael D. Kessler, Jack A. Kosmicki, Adam E. Locke, Priyanka Nakka, Anthony Marcketta, Arden Moscati, Aditeya Pandey, Anita Pandit, Jonathan Ross, Carlo Sidore, Eli A. Stahl, Maria Suciu, Peter VandeHaar, Sailaja Vedantam, Scott Vrieze, Rujin Wang, Kuan-Han Wu, Bin Ye, Blair Zhang, Olivier Delaneau, Maya Ghoussaini, Jingning Zhang, Brian D. Hobbs, Jon Silver, William Palmer, Rita Guerreiro, Jan Freudenberg, Amit D. Joshi, Antoine Baldassari, Cristen J. Willer, Sarah E. Graham, Jonas B. Nielsen, Mary Hass, Niek Verweij, George Hindy, Jonas Bovijn, Tanima De, Parsa Akbari, Luanluan Sun, Olukayode Sosina, Arthur Gilly, Peter Dornbos, Juan L. Rodriguez‐Flores, Moeen Riaz, Manav Kapoor, Gannie Tzoneva, Momodou W. Jallow, Anna Alkelai, Ariane Ayer, Veera M. Rajagopal, Sahar Gelfman, Vijay Kumar, Jacqueline M. Otto, Neel Parikshak, Ayşegül Güvenek, José Brás, Silvia Álvarez, Jessie Brown, Jin He, Hossein Khiabanian, Marcus B. Jones, Esteban Chen, Jaimee Hernandez, Michelle G. LeBlanc, Jason Mighty, Nirupama Nishtala, Nadia Rana, Jennifer Rico‐Varela, Jonathan Emberson, Richard Peto, Abraham Garduño-Martinez, A. García-López, Adrian Abarca-Cardoso, Adriana Caballero-Mondragon, Adriana Gutierrez-Parra, Adriana Leticia Diaz-Avila, Alan Emiliano Bautista-Hernandez, Alberto Méndez-Villalba, Aldo Shaid Ramos-Hernandez, Alejandra Alejo-Salazar, Alejandra Angelica Perez-Moncada, Alejandra Martinez, Alejandra Peralta-Gallardo, Alejandro Flores-Magana, Alfa Izamar Benitez-Garcia, Alicia González-Castillo, Alicia Villegas-Esparza, Alma Delia Morales-Bravo, Alma Fernanda Mora-Negrete, Alma Hernandez-Galicia, Alma Rosa Arenas-García, Alma Rosa Valentin-Martinez, Amalia Paredes-Rojas, Ambar Nayeli Flores-Sanchez, Amelia Ortiz-Jaen, America Juarez-Salazar, América Victoria Cervantes-Torres, Amparo Luviano-Martínez, Ana del Carmen Alejandro-Perez, Ana Dominguez-Alvarado, Ana Isabel Fuentes-Alvarado, Ana Karen Arreola-Olvera, Ana Laura Bautista-Sanchez, Ana Lilia Enríquez-Álvarez, Ana Lilia Reynoso-Valverde, Ana María Isidro-Cid, Ana Montserrat Lechuga-Mendoza, Andrea Esquivel-Mejía, Andrea Galvino-Antonio, Andrea Gomez-Luna, Andres Martinez-Martinez, Anel Aragón-Domínguez, Angelica Gamboa-Romero, Angélica Hernández Guerrero, Angelica Ruiz-Hernandez, Antonia González-María, Araceli Martínez-Santana, Araceli Rojas-Vásquez, Arcelia Rojas-Santamaría, Armida Sánchez-Corral, Athzin Berenice Rosas-Avila, Beatriz Cruz-Acevedo, Beatriz Gonzalez-Ibañes, Beatriz Rojas, Beatriz Velázquez-Mancilla, Belen Escalona-Franco, Bernardo Ochoa-Morales, Braulio Rivera-Cortés, Brenda Castañeda-Gazpar, Brenda J. Calderon-Garcia, Brenda Jimena Jimenez-Gutierrez, Brian Orlando Sanchez-Martin, Carlos Alberto Toxqui-Rico, Carlos Antonio Clemente-Montano, Carlos Daniel Jimenez-Gutierrez, Casandra Alvarez-Meneses, Catalina Gasca-Velázquez, Cecilia Luna-Barroso, César Marín-Pérez, Cinthia Calderon-Camacho, Cinthia Hernandez-Perez, Cinthia Xóchitl Hernández-Peralta, Clarinet Castillo-Rioja, Claudia Bustamante-Durán, Claudia Elizabeth Espinosa-Quintana, Claudia Lilia Galicia-Flores, Claudia Lizbeth Villagomez-Piña, Cynthya Berenice Sierra-Martinez, Daniel Fernández-Corona, Daniel Ordaz-Jiménez, Daniela Oreli Hernandez-Castillo, Daniela Ramirez-Aranda, Dante Zazhil Lopez-Guzman, Diana del Monte-Homobono, Diana Isabel Gonzalez-Enciso, Diana Laura Bolanos-Hernandez, Edith Elizabeth Valdez-Solano, Edith Gonzalez-Torres, Edson Alfonso Mercado-Hernández, Eduardo Alvarado-Valle, Elisa Morales-Martinez, Elizabet Gonzalez, Elsa Yadira Díaz-Martínez, Elvia Isabel Vázquez-Torres, Elvira Ramos-Mendoza, Emiliano del Rio-Gonzalez, Erika Alpizar-Flores, Erika García-García, Erika Pérez-Romero, Esmeralda Sanchez-Martinez, Estefania Perez-Perez, Estela Beatriz López-García, Estela Elisabeth Moran-De Los Santos, Esther Jerónimo-Hernández,

The Mexico City Prospective Study is a prospective cohort of more than 150,000 adults recruited two decades ago from the urban districts of Coyoacán and Iztapalapa in Mexico City

Nature Portfolio

Artigo Acesso aberto Revisado por pares

Sean J. Jurgens, Seung Hoan Choi, Valerie N. Morrill, Mark Chaffin, James P. Pirruccello, Jennifer L. Halford, Lu‐Chen Weng, Victor Nauffal, Carolina Roselli, Amelia Weber Hall, Matthew T. Oetjens, Braxton Lagerman, David P. vanMaanen, Gonçalo R. Abecasis, Xiaodong Bai, Suganthi Balasubramanian, Aris Baras, Christina Beechert, Boris Boutkov, Michael Cantor, Giovanni Coppola, Tanima De, Andrew Deubler, Aris N. Economides, Gisu Eom, Manuel A. R. Ferreira, Caitlin Forsythe, Erin D. Fuller, Zhenhua Gu, Lukas Habegger, Alicia Hawes, Marcus B. Jones, Katia Karalis, Shareef Khalid, Olga Krasheninina, Rouel Lanche, Michael Lattari, Dadong Li, Alexander Lopez, Luca A. Lotta, Kia Manoochehri, Adam J. Mansfield, Evan K. Maxwell, Jason Mighty, Lyndon J. Mitnaul, Mona Nafde, Jonas B. Nielsen, Sean O’Keeffe, Max Orelus, John D. Overton, Maria Sotiropoulos Padilla, Razvan Panea, Tommy Polanco, Manasi Pradhan, Ayesha Rasool, Jeffrey G. Reid, William Salerno, Thomas D. Schleicher, Alan R. Shuldiner, Katherine Siminovitch, Jeffrey Staples, Ricardo H. Ulloa, Niek Verweij, Louis Widom, Sarah E. Wolf, Krishna G. Aragam, Kathryn L. Lunetta, Christopher M. Haggerty, Steven A. Lubitz, Patrick T. Ellinor,

Cardiometabolic diseases are the leading cause of death worldwide. Despite a known genetic component, our understanding of these diseases remains incomplete. Here, we analyzed the contribution of rare variants to 57 diseases and 26 cardiometabolic traits, using data from 200,337 UK Biobank participants with whole-exome sequencing. We identified 57 gene-based associations, with broad replication of novel signals in Geisinger MyCode. There was a striking risk associated with mutations in known Mendelian ...

Tópico(s): Ubiquitin and proteasome pathways

2022 - Nature Portfolio | Nature Genetics

Revisão Acesso aberto Revisado por pares

Kavita Praveen, Lee Dobbyn, Lauren Gurski, Ariane Ayer, Jeffrey Staples, Shawn Mishra, Yu Bai, Alexandra Kaufman, Arden Moscati, Christian Benner, Esteban Chen, Siying Chen, А. В. Попов, Janell Smith, Lance J. Adams, Jackie Blank, Dale L. Bodian, Derek Boris, Adam H. Buchanan, David J. Carey, Ryan Colonie, F. Daniel Davis, Dustin N. Hartzel, Melissa Kelly, H. Lester Kirchner, Joseph B. Leader, David H. Ledbetter, J. Neil Manus, Christa Lese Martin, Raghu Metpally, Michelle N. Meyer, Tooraj Mirshahi, Matthew T. Oetjens, Thomas N. Person, Christopher D. Still, Natasha T. Strande, Amy C. Sturm, Jen Wagner, Marc S. Williams, Aris Baras, Michael Cantor, Giovanni Coppola, Andrew Deubler, Aris N. Economides, Luca A. Lotta, John D. Overton, Jeffrey G. Reid, Alan R. Shuldiner, Katia Karalis, Katherine Siminovitch, Christina Beechert, Caitlin Forsythe, Erin D. Fuller, Zhenhua Gu, Michael Lattari, Alexander Lopez, John D. Overton, Thomas D. Schleicher, Maria Sotiropoulos Padilla, Louis Widom, Sarah E. Wolf, Manasi Pradhan, Kia Manoochehri, Ricardo H. Ulloa, Xiaodong Bai, Suganthi Balasubramanian, Boris Boutkov, Gisu Eom, Lukas Habegger, Alicia Hawes, Shareef Khalid, Olga Krasheninina, Rouel Lanche, Adam J. Mansfield, Evan K. Maxwell, Mona Nafde, Sean O’Keeffe, Max Orelus, Razvan Panea, Tommy Polanco, Ayesha Rasool, Jeffrey G. Reid, William Salerno, Jeffrey Staples, Nilanjana Banerjee, Michael Cantor, Dadong Li, Deepika Sharma, Ashish Yadav, Alessandro Di Gioia, Sahar Gelfman, Esteban Chen, Jason Mighty, Michelle G. LeBlanc, Lyndon J. Mitnaul, Joe Burns, Giovanni Coppola, Aris N. Economides, David Frendewey, Scott F. Gallagher, John Lee, John Keilty, Christos A. Kyratsous, Lynn E. Macdonald, Adam T. Palermo, Kavita Praveen, Leah R. Sabin, Jonathon P. Whitton, Brian Zambrowicz, Sarah Deng, Geoff Horwitz, Alejandra King, Jung‐Hoon Sung, Olle Melander, Marcus B. Jones, Jonathan Marchini, Suganthi Balasubramanian, Brian Zambrowicz, Meghan C. Drummond, Aris Baras, Gonçalo R. Abecasis, Manuel A. R. Ferreira, Eli A. Stahl, Giovanni Coppola,

Abstract To better understand the genetics of hearing loss, we performed a genome-wide association meta-analysis with 125,749 cases and 469,497 controls across five cohorts. We identified 53/c loci affecting hearing loss risk, including common coding variants in COL9A3 and TMPRSS3 . Through exome sequencing of 108,415 cases and 329,581 controls, we observed rare coding associations with 11 Mendelian hearing loss genes, including additive effects in known hearing loss genes GJB2 (Gly12fs; odds ratio [ ...

Tópico(s): Ear Surgery and Otitis Media

2022 - Nature Portfolio | Communications Biology

Artigo Acesso aberto Revisado por pares

Eric Manderstedt, Christina Lind‐Halldén, Christer Halldén, Johan Elf, Peter J. Svensson, Björn Dahlbäck, Gunnar Engström, Olle Melander, Aris Baras, Luca A. Lotta, Bengt Zöller, Gonçalo R. Abecasis, Aris Baras, Michael Cantor, Giovanni Coppola, Aris N. Economides, Luca A. Lotta, John D. Overton, Jeffrey G. Reid, Alan R. Shuldiner, Christina Beechert, Caitlin Forsythe, Erin D. Fuller, Zhenhua Gu, Michael Lattari, Alexander Lopez, John D. Overton, Thomas D. Schleicher, Maria Sotiropoulos Padilla, Louis Widom, Sarah E. Wolf, Manasi Pradhan, Kia Manoochehri, Ricardo H. Ulloa, Xiaodong Bai, Suganthi Balasubramanian, Andrew Blumenfeld, Boris Boutkov, Gisu Eom, Lukas Habegger, Alicia Hawes, Shareef Khalid, Olga Krasheninina, Rouel Lanche, Adam J. Mansfield, Evan K. Maxwell, Mrunali Nafde, Sean O’Keeffe, Max Orelus, Razvan Panea, Tommy Polanco, Ayesha Rasool, Jeffrey G. Reid, William Salerno, Jeffrey Staples, Marcus B. Jones, Jason Mighty, Lyndon J. Mitnaul,

Background Five classic thrombophilias have been recognized: factor V Leiden (rs6025), the prothrombin G20210A variant (rs1799963), and protein C, protein S, and antithrombin deficiencies. This study aimed to determine the thrombotic risk of classic thrombophilias in a cohort of middle-aged and older adults. Methods and Results Factor V Leiden, prothrombin G20210A and protein-coding variants in the PROC (protein C), PROS1 (protein S), and SERPINC1 (antithrombin) anticoagulant genes were determined in ...

Tópico(s): Venous Thromboembolism Diagnosis and Management

2022 - Wiley | Journal of the American Heart Association

Artigo Revisado por pares

Catherine Tcheandjieu, Ke Xiao, Heliodoro Tejeda, Julie A. Lynch, Sanni Ruotsalainen, Tiffany R. Bellomo, Madhuri Palnati, Renae Judy, Derek Klarin, Rachel L. Kember, Shefali S. Verma, Gonçalo R. Abecasis, Aris Baras, Michael Cantor, Giovanni Coppola, Andrew Deubler, Aris N. Economides, Katia Karalis, Luca A. Lotta, John D. Overton, Jeffrey G. Reid, Katherine Siminovitch, Alan R. Shuldiner, Christina Beechert, Caitlin Forsythe, Erin D. Fuller, Zhenhua Gu, Michael Lattari, Alexander Lopez, Maria Sotiopoulos Padilla, Manasi Pradhan, Kia Manoochehri, Thomas D. Schleicher, Louis Widom, Sarah E. Wolf, Ricardo H. Ulloa, Amelia Averitt, Nilanjana Banerjee, Dadong Li, Sameer Malhotra, Deepika Sharma, Jeffrey Staples, Xiaodong Bai, Suganthi Balasubramanian, Suying Bao, Boris Boutkov, Siying Chen, Gisu Eom, Lukas Habegger, Alicia Hawes, Shareef Khalid, Olga Krasheninina, Rouel Lanche, Adam J. Mansfield, Evan K. Maxwell, George Mitra, Mona Nafde, Sean O’Keeffe, Max Orelus, Razvan Panea, Tommy Polanco, Ayesha Rasool, William Salerno, Kathie Sun, Jiwen Xin, Joshua Backman, Amy Damask, Lee Dobbyn, Manuel Allen Revez Ferreira, Arkopravo Ghosh, Christopher E. Gillies, Lauren Gurski, Eric Jorgenson, Hyun Min Kang, Michael D. Kessler, Jack A. Kosmicki, Alexander Li, Nan Lin, Daren Liu, Adam E. Locke, Jonathan Marchini, Anthony Marcketta, Joelle Mbatchou, Arden Moscati, Charles Paulding, Carlo Sidore, Eli A. Stahl, Kyoko Watanabe, Bin Ye, Blair Zhang, Andrey Ziyatdinov, Marcus B. Jones, Jason Mighty, Lyndon J. Mitnaul, Aarno Palotie, Mark J. Daly, Marylyn D. Ritchie, Daniel J. Rader, Manuel A. Rivas, Themistocles L. Assimes, Philip S. Tsao, Scott M. Damrauer, James R. Priest,

Tópico(s): Aortic aneurysm repair treatments

2022 - Nature Portfolio | Nature Genetics

Artigo Acesso aberto Revisado por pares

Cindy G. Boer, Konstantinos Hatzikotoulas, Lorraine Southam, Lilja Stefánsdóttir, Yanfei Zhang, Rodrigo Coutinho de Almeida, Tian Wu, Jie Zheng, April Hartley, Maris Teder‐Laving, Anne Heidi Skogholt, Chikashi Terao, Eleni Zengini, George Alexiadis, Andrei Barysenka, Gyða Björnsdóttir, Maiken E. Gabrielsen, Arthur Gilly, Þorvaldur Ingvarsson, Marianne Bakke Johnsen, Helgi Jónsson, M. Kloppenburg, Almut Luetge, Sigrún H. Lund, Reedik Mägi, Massimo Mangino, Rob G. H. H. Nelissen, Manu Shivakumar, Julia Steinberg, Hiroshi Takuwa, Laurent F. Thomas, Margo Tuerlings, George C. Babis, Jason Pui Yin Cheung, Jae H. Kang, Peter Kraft, Steven A. Lietman, Dino Samartzis, P. Eline Slagboom, Hreinn Stefánsson, Unnur Þorsteinsdóttir, Jonathan H. Tobias, André G. Uitterlinden, Bendik S. Winsvold, John‐Anker Zwart, George Davey Smith, Pak C. Sham, Guðmar Þorleifsson, Tom R. Gaunt, Andrew P. Morris, Ana M. Valdes, Aspasia Tsezou, Kathryn S.E. Cheah, Shiro Ikegawa, Kristian Hveem, Tõnu Esko, J. Mark Wilkinson, Ingrid Meulenbelt, Ming Ta Michael Lee, Joyce B. J. van Meurs, Unnur Styrkársdóttir, Eleftheria Zeggini, John Loughlin, Nigel Arden, Fraser Birrell, Andrew Carr, Panos Deloukas, Michael Doherty, Andrew W. McCaskie, William Ollier, Ashok Rai, Stuart H. Ralston, Tim D. Spector, Gillian A. Wallis, Amy E. Martinsen, Cristen J. Willer, Egil A. Fors, Ingunn Mundal, Knut Hagen, Kristian Bernhard Nilsen, Marie Udnesseter Lie, Sigrid Børte, Ben Brumpton, Jonas B. Nielsen, Lars G. Fritsche, Wei Zhou, Ingrid Heuch, Kjersti Storheim, Evangelos Tyrpenou, A. Koukakis, Dimitrios Chytas, Dimitrios Stergios Evangelopoulos, Chronopoulos Efstathios, Spiros G. Pneumaticos, Vasileios S. Nikolaou, Κonstantinos Ν. Malizos, Lydia Anastasopoulou, Gonçalo R. Abecasis, Aris Baras, Michael Cantor, Giovanni Coppola, Andrew Deubler, Aris N. Economides, Luca A. Lotta, John D. Overton, Jeffrey G. Reid, Alan R. Shuldiner, Katia Karalis, Katherine Siminovitch, Christina Beechert, Caitlin Forsythe, Erin D. Fuller, Zhenhua Gu, Michael Lattari, Alexander Lopez, Thomas D. Schleicher, Maria Sotiropoulos Padilla, Louis Widom, Sarah E. Wolf, Manasi Pradhan, Kia Manoochehri, Xiaodong Bai, Suganthi Balasubramanian, Boris Boutkov, Gisu Eom, Lukas Habegger, Alicia Hawes, Olga Krasheninina, Rouel Lanche, Adam J. Mansfield, Evan K. Maxwell, Mona Nafde, Sean O’Keeffe, Max Orelus, Razvan Panea, Tommy Polanco, Ayesha Rasool, William Salerno, Jeffrey Staples, Dadong Li, Deepika Sharma, Ilanjana Banerjee, Jonas Bovijn, Adam E. Locke, Niek Verweij, Mary E. Haas, George Hindy, Tanima De, Parsa Akbari, Olukayode Sosina, Manuel A. R. Ferreira, Marcus B. Jones, Jason Mighty, Michelle G. LeBlanc, Lyndon J. Mitnaul,

Osteoarthritis affects over 300 million people worldwide. Here, we conduct a genome-wide association study meta-analysis across 826,690 individuals (177,517 with osteoarthritis) and identify 100 independently associated risk variants across 11 osteoarthritis phenotypes, 52 of which have not been associated with the disease before. We report thumb and spine osteoarthritis risk variants and identify differences in genetic effects between weight-bearing and non-weight-bearing joints. We identify sex- ...

Tópico(s): Inflammatory mediators and NSAID effects

2021 - Cell Press | Cell

Artigo Acesso aberto Revisado por pares

Jack A. Kosmicki, Julie Horowitz, Nilanjana Banerjee, Rouel Lanche, Anthony Marcketta, Evan K. Maxwell, Xiaodong Bai, Dylan Sun, Joshua Backman, Deepika Sharma, Fabrício S. P. Kury, Hyun Min Kang, Colm O’Dushlaine, Ashish Yadav, Adam J. Mansfield, Alexander Li, Kyoko Watanabe, Lauren Gurski, Shane McCarthy, Adam E. Locke, Shareef Khalid, Sean O’Keeffe, Joelle Mbatchou, Olympe Chazara, Yunfeng Huang, Erika Kvikstad, Amanda O’Neill, Paul Nioi, Meg M. Parker, Slavé Petrovski, Heiko Runz, Joseph D. Szustakowski, Quanli Wang, Emily Wong, Aldo Córdova‐Palomera, Erin N. Smith, Sándor Szalma, Xiuwen Zheng, Sahar Esmaeeli, J. Wade Davis, Yi-Pin Lai, Xing Chen, Anne E. Justice, Joseph B. Leader, Tooraj Mirshahi, David J. Carey, Anurag Verma, Giorgio Sirugo, Marylyn D. Ritchie, Daniel J. Rader, Gundula Povysil, David B. Goldstein, Krzysztof Kiryluk, Erola Pairo‐Castineira, Konrad Rawlik, Dorota Pasko, Susan Walker, Alison Meynert, Athanasios Kousathanas, Loukas Moutsianas, Albert Tenesa, Mark J. Caulfield, Richard H. Scott, James F. Wilson, J. Kenneth Baillie, Guillaume Butler‐Laporte, Tomoko Nakanishi, Mark Lathrop, J. Brent Richards, Marcus B. Jones, Suganthi Balasubramanian, William Salerno, Alan R. Shuldiner, Jonathan Marchini, John D. Overton, Lukas Habegger, Michael Cantor, Jeffrey G. Reid, Aris Baras, Gonçalo R. Abecasis, Manuel A. R. Ferreira,

Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) causes coronavirus disease 2019 (COVID-19), a respiratory illness that can result in hospitalization or death. We used exome sequence data to investigate associations between rare genetic variants and seven COVID-19 outcomes in 586,157 individuals, including 20,952 with COVID-19. After accounting for multiple testing, we did not identify any clear associations with rare variants either exome wide or when specifically focusing on (1) 13 interferon ...

Tópico(s): COVID-19 Clinical Research Studies

2021 - Elsevier BV | The American Journal of Human Genetics

Artigo Acesso aberto Brasil Produção Nacional Revisado por pares

Vitória Andretta, Josiane Siviero, Karina Giane Mendes, Fabiane Raquel Motter, Heloísa Theodoro,

... de alimentos ultraprocessados foram associadas a comprar/levar lanche para escola e realizar lanches. Já o aconselhamento ...

Tópico(s): Global Public Health Policies and Epidemiology

2021 - ASSOCIAÇÃO BRASILEIRA DE SAÚDE COLETIVA | Ciência & Saúde Coletiva

Artigo Acesso aberto Revisado por pares

Lucas D. Ward, Ho-Chou Tu, Chelsea B. Quenneville, Shira Tsour, Alexander O. Flynn-Carroll, Margaret M. Parker, Aimée M. Deaton, Patrick Haslett, Luca A. Lotta, Niek Verweij, Manuel A. R. Ferreira, Gonçalo R. Abecasis, Michael Cantor, Giovanni Coppola, Jeffrey G. Reid, Alan R. Shuldiner, Katia Karalis, Katherine Siminovitch, Christina Beechert, Caitlin Forsythe, Erin D. Fuller, Zhenhua Gu, Michael Lattari, Alexander Lopez, Thomas D. Schleicher, Maria Sotiropoulos Padilla, Louis Widom, Sarah E. Wolf, Manasi Pradhan, Kia Manoochehri, Ricardo H. Ulloa, Xiaodong Bai, Suganthi Balasubramanian, Andrew Blumenfeld, Boris Boutkov, Gisu Eom, Lukas Habegger, Alicia Hawes, Shareef Khalid, Olga Krasheninina, Rouel Lanche, Adam J. Mansfield, Evan K. Maxwell, Mrunali Nafde, Sean O’Keeffe, Max Orelus, Razvan Panea, Tommy Polanco, Ayesha Rasool, William Salerno, Jeffrey Staples, Dadong Li, Deepika Sharma, Fabrício S. P. Kury, Jonas B. Nielsen, Tanima De, Marcus B. Jones, Jason Mighty, Michelle G. LeBlanc, Lyndon J. Mitnaul, Aris Baras, Michael Cantor, Aris N. Economides, Jeffrey G. Reid, Andrew Deubler, Katherine Siminovitch, Lance J. Adams, Jackie Blank, Dale L. Bodian, Derek Boris, Adam H. Buchanan, David J. Carey, Ryan Colonie, F. Daniel Davis, Dustin N. Hartzel, Melissa Kelly, H. Lester Kirchner, Joseph B. Leader, David H. Ledbetter, J. Neil Manus, Christa Lese Martin, Raghu Metpally, Michelle N. Meyer, Tooraj Mirshahi, Matthew T. Oetjens, Thomas N. Person, Christopher D. Still, Natasha T. Strande, Amy C. Sturm, Jen Wagner, Marc S. Williams, Aris Baras, Gregory Hinkle, Paul Nioi,

Understanding mechanisms of hepatocellular damage may lead to new treatments for liver disease, and genome-wide association studies (GWAS) of alanine aminotransferase (ALT) and aspartate aminotransferase (AST) serum activities have proven useful for investigating liver biology. Here we report 100 loci associating with both enzymes, using GWAS across 411,048 subjects in the UK Biobank. The rare missense variant SLC30A10 Thr95Ile (rs188273166) associates with the largest elevation of both enzymes, and ...

Tópico(s): Iron Metabolism and Disorders

2021 - Nature Portfolio | Nature Communications

Artigo Acesso aberto Brasil Produção Nacional Revisado por pares

Janaína Calu Costa, Daniela Silva Canella, Ana Paula Bortoletto Martins, Renata Bertazzi Levy, Giovanna Calixto Andrade, Maria Laura da Costa Louzada,

... associado com a ingestão de UP no almoço, lanche da tarde e jantar. Os sucos foram mais ...

Tópico(s): Food Waste Reduction and Sustainability

2021 - ASSOCIAÇÃO BRASILEIRA DE SAÚDE COLETIVA | Ciência & Saúde Coletiva

Artigo Revisado por pares

Felix Hempel, Jessica Ka Yan Law, Thanh Chien Nguyen, Ruben Lanche, Anna Susloparova, Xuan Thang Vu, Sven Ingebrandt,

The adhesion of cells on organic electrochemical transistors (OECT) is investigated down to a single cell resolution using an impedimetric readout method of the transistors. For this purpose a fabrication protocol for micro-sized OECTs based on Poly(3,4-ethylenedioxythiophene):poly(styrene sulfonic acid) (PEDOT:PSS) was developed. OECTs with gate dimensions of 20 μm × 20 μm with cut-off frequencies up to 10 kHz at −3 dB were fabricated. Impedance spectra of the OECTs changed drastically when HEK 293 ...

Tópico(s): Analytical Chemistry and Sensors

2021 - Elsevier BV | Biosensors and Bioelectronics

Artigo Acesso aberto Revisado por pares

Aimée M. Deaton, Margaret M. Parker, Lucas D. Ward, Alexander O. Flynn-Carroll, Lucas BonDurant, Gregory Hinkle, Parsa Akbari, Luca A. Lotta, Gonçalo R. Abecasis, Aris Baras, Michael Cantor, Giovanni Coppola, Aris N. Economides, Luca A. Lotta, John D. Overton, Jeffrey G. Reid, Alan R. Shuldiner, Katia Karalis, Andrew Deubler, Katherine Siminovitch, Christina Beechert, Caitlin Forsythe, Erin D. Fuller, Zhenhua Gu, Michael Lattari, Alexander Lopez, John D. Overton, Thomas D. Schleicher, Maria Sotiropoulos Padilla, Louis Widom, Sarah E. Wolf, Manasi Pradhan, Kia Manoochehri, Ricardo H. Ulloa, Xiaodong Bai, Suganthi Balasubramanian, Andrew Blumenfeld, Boris Boutkov, Gisu Eom, Lukas Habegger, Alicia Hawes, Shareef Khalid, Olga Krasheninina, Rouel Lanche, Adam J. Mansfield, Evan K. Maxwell, Mona Nafde, Sean O’Keeffe, Max Orelus, Razvan Panea, Tommy Polanco, Ayesha Rasool, Jeffrey G. Reid, William Salerno, Jeffrey Staples, Michael Cantor, Dadong Li, Adam E. Locke, Niek Verweij, Jonas B. Nielsen, Jonas Bovijn, Tanima De, Mary E. Haas, Parsa Akbari, Olukayode Sosina, Marcus B. Jones, Jason Mighty, Michelle G. LeBlanc, Lyndon J. Mitnaul, Gonçalo R. Abecasis, Aris Baras, Michael Cantor, Giovanni Coppola, Aris N. Economides, Luca A. Lotta, John D. Overton, Jeffrey G. Reid, Alan R. Shuldiner, Andrew Deubler, Katia Karalis, Christina Beechert, Caitlin Forsythe, Erin D. Fuller, Zhenhua Gu, Michael Lattari, Alexander Lopez, Thomas D. Schleicher, Maria Sotiropoulos Padilla, Karina Toledo, Louis Widom, Sarah E. Wolf, Manasi Pradhan, Kia Manoochehri, Ricardo H. Ulloa, Xiaodong Bai, Suganthi Balasubramanian, Leland Barnard, Andrew Blumenfeld, Gisu Eom, Lukas Habegger, Alicia Hawes, Shareef Khalid, Evan K. Maxwell, William Salerno, Jeffrey Staples, Ashish Yadav, Dadong Li, Marcus B. Jones, Lyndon J. Mitnaul, Jason Mighty, Andrew Deubler, Katia Karalis, Katherine Siminovitch, Lance J. Adams, Jackie Blank, Dale L. Bodian, Derek Boris, Adam H. Buchanan, David J. Carey, Ryan Colonie, F. Daniel Davis, Dustin N. Hartzel, Melissa Kelly, H. Lester Kirchner, Joseph B. Leader, David H. Ledbetter, J. Neil Manus, Christa Lese Martin, Raghu Metpally, Michelle N. Meyer, Tooraj Mirshahi, Matthew T. Oetjens, Thomas N. Person, Christopher D. Still, Natasha T. Strande, Amy C. Sturm, Jen Wagner, Marc S. Williams, Aris Baras, Paul Nioi,

Abstract Sequencing of large cohorts offers an unprecedented opportunity to identify rare genetic variants and to find novel contributors to human disease. We used gene-based collapsing tests to identify genes associated with glucose, HbA1c and type 2 diabetes (T2D) diagnosis in 379,066 exome-sequenced participants in the UK Biobank. We identified associations for variants in GCK, HNF1A and PDX1 , which are known to be involved in Mendelian forms of diabetes. Notably, we uncovered novel associations ...

Tópico(s): Genomics and Rare Diseases

2021 - Nature Portfolio | Scientific Reports

Revisão Acesso aberto Revisado por pares

Joseph D. Szustakowski, Suganthi Balasubramanian, Erika Kvikstad, Shareef Khalid, Paola G. Bronson, Ariella Sasson, Emily H. M. Wong, Daren Liu, J. Wade Davis, Carolina Haefliger, A. Katrina Loomis, Rajesh Mikkilineni, Hyun Ji Noh, Samir Wadhawan, Xiaodong Bai, Alicia Hawes, Olga Krasheninina, Ricardo H. Ulloa, Alex E. Lopez, Erin N. Smith, Jeffrey F. Waring, Christopher D. Whelan, Ellen Tsai, John D. Overton, William Salerno, Howard J. Jacob, Sándor Szalma, Heiko Runz, Gregory Hinkle, Paul Nioi, Slavé Petrovski, Melissa R. Miller, Aris Baras, Lyndon J. Mitnaul, Jeffrey G. Reid, Oleg Moiseyenko, Carlos Garcia Rios, Saurabh Saha, Gonçalo R. Abecasis, Nilanjana Banerjee, Christina Beechert, Boris Boutkov, Michael Cantor, Giovanni Coppola, Aris N. Economides, Gisu Eom, Caitlin Forsythe, Erin D. Fuller, Zhenhua Gu, Lukas Habegger, Marcus B. Jones, Rouel Lanche, Michael Lattari, Michelle G. LeBlanc, Dadong Li, Luca A. Lotta, Kia Manoochehri, Adam J. Mansfield, Evan K. Maxwell, Jason Mighty, Mrunali Nafde, Sean O’Keeffe, Max Orelus, Maria Sotiropoulos Padilla, Razvan Panea, Tommy Polanco, Manasi Pradhan, Ayesha Rasool, Thomas D. Schleicher, Deepika Sharma, Alan R. Shuldiner, Jeffrey Staples, Cristopher V. Van Hout, Louis Widom, Sarah E. Wolf, Sally John, Chia‐Yen Chen, David Sexton, Varant Kupelian, Eric Marshall, T. Swan, Susan Eaton, Jimmy Z. Liu, Stephanie Loomis, Megan E. Jensen, Saranya Duraisamy, Jason Tetrault, David Merberg, Sunita Badola, Mark Reppell, Jason Grundstad, Xiuwen Zheng, Aimée M. Deaton, Margaret M. Parker, Lucas D. Ward, Alexander O. Flynn-Carroll, Caroline A. Austin, Ruth March, Menelas N. Pangalos, Adam Platt, Mike Snowden, Athena Matakidou, Sebastian Wasilewski, Quanli Wang, Sri V. V. Deevi, Keren Carss, Katherine R. Smith, Morten Søgaard, Xinli Hu, Xing Chen, Ye Zhan,

The UK Biobank Exome Sequencing Consortium (UKB-ESC) is a private–public partnership between the UK Biobank (UKB) and eight biopharmaceutical companies that will complete the sequencing of exomes for all ~500,000 UKB participants. Here, we describe the early results from ~200,000 UKB participants and the features of this project that enabled its success. The biopharmaceutical industry has increasingly used human genetics to improve success in drug discovery. Recognizing the need for large-scale human ...

Tópico(s): Cancer Genomics and Diagnostics

2021 - Nature Portfolio | Nature Genetics

Artigo Revisado por pares

Xiaoling Lü, Walid‐Madhat Munief, Florian Heib, Michael Schmitt, Anette Britz, Samuel Grandthyl, Frank Müller, Jens‐Uwe Neurohr, Karin Jacobs, Hadj M. Benia, Ruben Lanche, Vivek Pachauri, Rolf Hempelmann, Sven Ingebrandt,

Abstract Scalable and routine integration of chemically exfoliated, graphene‐based materials such as graphene oxide (GO) and reduced graphene oxide (rGO) into standard microelectronic fabrication is a tremendous technological challenge, blocking their advancement toward real applications. A unique approach for wafer‐scale fabrication of rGO devices by a synergistic combination of chemically exfoliated GO with photolithography processing is realized. Using graphite powder as source material, a GO solution ...

Tópico(s): Graphene and Nanomaterials Applications

2018 - Wiley | Advanced Materials Technologies

Artigo Revisado por pares

Walid‐Madhat Munief, Xiaoling Lü, Tobias Teucke, Jannick Wilhelm, Anette Britz, Felix Hempel, Ruben Lanche, Miriam Schwartz, Jessica Ka Yan Law, Samuel Grandthyll, Frank Müller, Jens‐Uwe Neurohr, Karin Jacobs, Michael Schmitt, Vivek Pachauri, Rolf Hempelmann, Sven Ingebrandt,

Reduced graphene oxide (rGO) thin films can be exploited as highly sensitive transducer layers and integrated in interdigital micro-electrode systems for biosensing processes. The distinctive bipolar characterisitics of rGO thin films can be modulated by a very low external electric field due to the electrostatic charges of biomolecules. These charges lead to a fast response in the readout signals of rGO based ion sensitive field-effect transistors (ISFETs). The characterisitc changes of rGO ISFETs ...

Tópico(s): Electrochemical sensors and biosensors

2018 - Elsevier BV | Biosensors and Bioelectronics

Artigo Revisado por pares

Marcela Sepúlveda, Thibault Saintenoy, Luis Cornejo, Carole Dudognon, Francisco Rafael Lanche Espinoza, Zaray Guerrero-Bueno, Enrique Cerrillo Cuenca,

The distribution and location of Naturalistic Tradition rock art paintings from the Precordillera (western foothills of the Andean Cordillera), in northernmost Chile, are discussed. Stylistic similarities in rock art suggest a connection between different sites and the construction of a specific symbolic territory and cultural landscape, where information-flows played a significant role. This process begun after the end of the Middle Archaic period (ca. 6000 BP) and during the Late Archaic (6.000–3. ...

Tópico(s): Pacific and Southeast Asian Studies

2017 - Elsevier BV | Quaternary International

Carta Acesso aberto Revisado por pares

Stoyan N. Angelov, Jay Zhu, Jie Hu, David A. Dichek,

... Habegger L, Hawes A, Khalid S, Krasheninina O, Lanche R, Mansfield A, Maxwell E, Mitra G, Nafde ...

Tópico(s): Williams Syndrome Research

2017 - Lippincott Williams & Wilkins | Arteriosclerosis Thrombosis and Vascular Biology

Artigo Acesso aberto Brasil Produção Nacional Revisado por pares

Fábia Massarani, Diana Barbosa Cunha, Ana Paula Muraro, Bárbara da Silva Nalin de Souza, Rosely Sichieri, Edna Massae Yokoo,

... regressão linear. Três principais padrões alimentares foram identificados: “lanche tradicional” (1): café, pães, óleos e gorduras, e ...

Tópico(s): Consumer Attitudes and Food Labeling

2015 - Escola Nacional de Saúde Pública, Fundação Oswaldo Cruz | Cadernos de Saúde Pública

Artigo Acesso aberto Brasil Produção Nacional Revisado por pares

Cristiane Mota, Silmara Salete de Barros Silva Mastroeni, Marco Fábio Mastroeni,

... oferecida pela escola foi o fato de trazerem lanche de casa. Os resultados obtidos foram considerados positivos ...

Tópico(s): Health, Education, and Aging

2013 - Instituto Nacional de Estudos e Pesquisas Educacionais Anísio Teixeira | Revista Brasileira de Estudos Pedagógicos

Artigo Revisado por pares

Victor Asal, Kathleen Deloughery, Brian J. Phillips,

... edu/mar/data.asp Ibid. Gary King and Lanche Zeng, “Logistic Regression in Rare Events Data,” Political ...

Tópico(s): Crime, Illicit Activities, and Governance

2012 - Taylor & Francis | Terrorism and Political Violence