Isolation of highly heat-resistant Listeria monocytogenes variants by use of a kinetic modeling-based sampling scheme. [PDF]
Item does not contain fulltextStable high-hydrostatic-pressure (HHP)-resistant Listeria monocytogenes LO28 variants were previously isolated and characterized. These HHP variants were also more resistant to heat.
Moezelaar, R., Abee, T., Boeijen, I.K. Van, Francke, C., Ineke K. H. Van Boeijen, Moezelaar, H.R., Christof Francke, Roy Moezelaar, Boeijen, K.H., van, Tjakko Abee, Zwietering, M.H., Marcel H. Zwietering +11 more
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Genetic Criticism with Textual Criticism: From Variant to Variation [PDF]
It has been necessary to make a clear distinction between genetic criticism and textual criticism. I suggested that textual criticism is a science of repetition and genetic criticism a science of invention; that the aim of textual criticism is to ...
Ferrer, Daniel
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Variant analysis in Chinese families with hereditary hemorrhagic telangiectasia
Background Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia disorder characterized by epistaxis, mucocutaneous telangiectasias and arteriovenous malformations in internal organs.
Yali Zhao, Yuan Zhang, Xiangdong Wang, Luo Zhang +3 more
doaj +1 more source
Matching Variants for functional characterization of genetic variants
Abstract Rapid and low-cost sequencing, as well as computer analysis, have facilitated the diagnosis of many genetic diseases, resulting in a substantial rise in the number of disease-associated genes. However, genetic diagnosis of many disorders remains problematic due to the lack of interpretation for many genetic ...
Sebiha Cevik, Pei Zhao, Atiyye Zorluer, Mustafa S Pir, Wenyin Bian, Oktay I Kaplan +5 more
openaire
hdl.handle.net
pubmed.ncbi.nlm.nih.gov
copy doi (10.1101/2023.02.22.529565)
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis [PDF]
Using the ImmunoChip custom genotyping array, we analyzed 14,498 subjects with multiple sclerosis and 24,091 healthy controls for 161,311 autosomal variants and identified 135 potentially associated regions (P < 1.0 × 10−4).
International Ibd Genetics Consortium, Salvetti, M, Halfpenny C, Comi, Giancarlo,, Celius, Elisabeth G.,, Martin, Claes, Christina M. Lill, Kockum, Ingrid, Mannisto, Satu, Manrique, Clara P., Sawcer, SJ, Stewart, Graeme, Agliardi, Cristina, Cree BA, Kronsbein H, Selter, RC, Caillier, Stacy,, Lebrun-Frenay, Christine, Hafler, D, Helga Westerlind, Martinelli, Vittorio,, Spurkland, Anne, Kendall B, Fontaine, Bertrand,, Edkins, Sarah, Lathrop, Mark, Saarela, Janna, Shahi, Tejas S, Cree, BAC, Harley, James,, Hong Quach, Olsson, Tomas, Per Hall, Hafler, David, A, Philip De Jager, Myhr KM, Cordelia Langford, Steve Vucic, Henderson, Paul, Reunanen M, Sawcer, Stephen, Hakonarson, Hakon, Butzkueven, Helmut,, Bomfim, Izaura L, Selter, Rebecca, Ilijas Jelcic, Wilkins, A, Langford, Cordelia,, Slee, Mark,, Caillier, Stacy J, Patsopoulos, Nikolaos A, James S. Wiley, Cotsapas, Chris, Bruce A. C. Cree, Galimberti, D, Goris, An, Sospedra, Mireia, Manrique CP, Mescheriakova J, Kermode, A, Harbo, Hanne F.,, Shah, Tejas, Izaura L. Bomfim, Celius, Elisabeth, David Rog, McCauley J.L., Rogier Hintzen, Shields, Simon,, Kilpatrick, Trevor,, Thorpe, J, Frohlich, Irene, Giuseppe Liberatore, Sondergaard, HB, Damotte, Vincent, Harbo, Hanne, Flinstad, Wilson JF, Ticca, Anna,, Vucic S, Thorpe, John, Barcellos, Lisa F, Roland Martin, Lycke, Jan, Anu Kemppinen, Sorensen PS, Gieger C, Stephen L. Hauser, Larsson, Malin,, Hoshi, Muni, Hobart, Jeremy,, Hadjixenofontos, Athena, Brian Kendall, Tienari P, Spencer C, Harbo, Hanne F, Barcellos, LF, Langford, C, Lycke, Jan,, Alfredsson, Lars, Kermode, Allan, Andrews, R, Sospedra, M, van Duijn, Cornelia,, Hobart, Jeremy, Hemmer, B, Bertrand Fontaine, Salvetti M, Spencer, Chris, International Multiple Sclerosis Genetics Consortium, Bomfim IL, Hemmer B, Søndergaard, Helle Bach, Chris Spencer, Freeman, Colin, Shields, S, Siffrin, Volker, Martin, Claes,, Lie, Benedicte A.,, Irene Coman, Hellenthal G, Bomfim, Izaura, Westerlind, Helga, Melissa Sorosina, Martin C, Haines, Jonathan,, Kronsbein, Helena,, Anderson C, Hintzen, R, Harrower, T, Shen L, Thorpe, John,, Konidari, Ioanna,, Colin Freeman, Anne Spurkland, Sundqvist, E, Wilkins, Alastair, Konidari I, Finn Sellebjerg, Dubois, Bénédicte, Hemmer, Bernhard,, Soelberg Sorensen, Per,, Hunt, Sarah E, Harbo, Hanne,, Lechner Scott J, Robertson, NP, Price SE, Schaefer, Catherine,, Robberecht, Wim,, Alastair Wilkins, Ban, Maria, Mero, Inger-Lise,, Franke, Andre, Carl Anderson, Hall, Per, Westerlind H, Garrett Hellenthal, Edkins, S, Bernardinelli, L, Jenny Link, Franke, A, Leppä, V, Mazibrada, G, Wilson, James F, Gourraud, PA, Rodegher, Mariaemma,, Brambilla, Paola, Galimberti, Daniela,, Hoshi, M, Franke A, Halfpenny, C, Mason D, Visser, Elizabeth M, Sandra D'Alfonso, Agliardi, Cristina,, Comi, Giancarlo, Dionysia K. Xifara, Bomfim, Izaura L.,, Spencer, C, Oksenberg, Jorge R, Elovaara I, Graetz C, Bach Sondergaard, Helle,, Paola Brambilla, Hauser SL, Satu Mannisto, Ivinson, AJ, Macciardi, F, di Sapio, Alessia, Bergamaschi, L, Anderson, C, Field J, Spencer, Chris,, McVean, Gil,, Evangelou, Nikos,, Quach H, Allan Kermode, Davis, Mary, Booth, David, J, Stewart, G, Elisabeth G. Celius, Jeannette Lechner Scott, Adrian J. Ivinson, Harbo, HF, Beecham AH, Booth, David,, Broadley, Simon, Amie Baker, Price, Siân E, Broadley, S, Lycke, J, Binder, Thomas M C.,, Barnaby Fiddes, Baker A, Mariaemma Rodegher, Defer, Gilles,, Robberecht W, Rebecca C. Selter, Hillier, C, Shaunak, S, Wiley, James S.,, Selter RC, Guaschino, Clara, Sorosina, Melissa, Hakonarson, H, Lill, CM, Kemppinen, Anu, Graetz, Christiane,, Guaschino, Clara,, Christopher Halfpenny, Emilie Sundqvist, Bellenguez, Celine, Freeman C, Duddy M, Oturai, Annette,, Hillert, Jan,, Graham, Andrew, Mason, D, Spurkland A, Sorosina, M, Damotte, V, Wilson, James F., Ivinson, Adrian J., (IMSGC), International Multiple Sclerosis Genetics Consortium, Athena Hadjixenofontos, Cosemans, Leentje,, Kemppinen, A, Männistö S, Irina Elovaara, Martinelli Boneschi F, Zipp, Frauke, Cavalla, Paola, Coman, IrÃne, Sundqvist, Emilie, Moutsianas, L, Pericak Vance, MA, Lechner-Scott, J, Stacy J. Caillier, Brambilla, P, McVean G, Shah, Tejas S.,, Laura Bergamaschi, Robert Andrews, Sorosina, Melissa,, Graetz, Christiane, Irene Y. Frohlich, Bernardinelli, Luisa,, Price, Sian E.,, Cristina Agliardi, Nilsson, Petra, Hobart, J, Mescheriakova, J, Martinelli-Boneschi, Filippo,, Shen, Lucy, Kendall, Brian, Brambilla, Paola,, Schnetz-Boutaud, Nathalie C, Compston, Alastair,, Simon Shields, Korn, T, Mannisto, Satu,, Carpentier, Wassila,, Delgado, Silvia, Nilsson P, Oksenberg, Jorge,, Jelcic, Ilijas, William Camu, Buck, Dorothea, Blackburn, Hannah,, Thijs, Vincent,, Paola Cavalla, Panos Deloukas, Jeremy Hobart, Coman, I, Leone, Maurizio, Nikolaos A. Patsopoulos, Maurizio A. Leone, Wellcome Trust Case Control Consortium 2, Taylor B, James Harley, Shaunak, Sandip, Stewart, Graeme,, Fredrik Piehl, Deloukas, P, Gavin Band, Baranzini, SE, Oksenberg, Jorge R.,, Sondergaard, Helle Bach, Delgado, Silvia R., Coman I, Compston, Alastair, Frohlich, IY, Olsson, T, Lie, BA, Hillert, Jan, Haines, Jonathan L.,, Cournu Rebeix I, Cavalla, Paola,, Buck D, Zipp, Frauke,, Michelle H. Lee, Jochim, Angela,, Jager, P, Dubois, B, Hillier C, Sà ̧ndergaard, Helle Bach, Grummel, Verena,, Oksenberg, JR, Brochet, B, Sian E. Price, Saarela, Janna,, Kronsbein, Helena, Lucia Corrado, Donnelly P, Cree, Bruce A. C., Pericak-Vance, Margaret, Deloukas, Panos,, Martin, Roland,, Frohlich IY, Robertson, Neil P, Tejas S. Shah, Shah TS, McCabe, Cristin, Martinelli V, Ticca, A, Schaefer, Catherine, Zipp F, Barcellos, Lisa F., Sellebjerg F, Bruce Taylor, Sellebjerg, F, Hauser, Stephen, Booth, David, Sarah E. Hunt, Hauser, Stephen L.,, Hintzen, Rogier, Celius, Elisabeth G., Matti Pirinen, Biberacher V, McVean, Gil, Goris, A, Jagodic, M, Manrique, CP, Kilpatrick, Trevor, Sellebjerg, Finn, Cotsapas C, Ivinson AJ, Sergio E. Baranzini, Sundqvist E, Nicholas, Richard,, Hannah Blackburn, Luisa Bernardinelli, A. Di Sapio, Agliardi C, Lathrop, M, Corrado, Lucia, Cournu-Rebeix, Isabelle, Cree, Bruce, Dilthey, Alexander, T, Baranzini, Sergio E, Rog, David, Manrique, Clara P.,, Butzkueven, Helmut, D'Alfonso, S, Martinelli-Boneschi, Filippo, Xifara DK, Strange, Amy,, Giancarlo Comi, Patsopoulos, Nikolaos, Hauser, Stephen L., Reunanen, M, Cosemans, Leentje, Andrew Graham, Brundin, L, Barrett, Jeffrey, Zajicek, J, Leentje Cosemans, van Duijn, Cornelia, Rodegher M, Zindler, Eva,, Männistö, S, Pericak-Vance, Margaret A., Koivisto, K, Price, Siân, Mehdi Alizadeh, Sawcer, Stephen J., Haines, Jonathan L, Mason, Deborah,, Zindler, E, Moutsianas L, Peter Donnelly, Nilsson, P, Harley, J, Zindler E, Dilthey, Alexander T.,, Shaunak, Sandip,, Daniela Galimberti, Vucic, Strahinja, Jan Lycke, Männistö, Satu, Bernhard Hemmer, Langford C, Langford, Cordelia, Manrique, Clara, Cosemans, L, Wim Robberecht, Hunt, Sarah, Caillier SJ, Wilson, James F; id_orcid, Vucic, S, Benedicte A. Lie, Martinelli Boneschi, F, Hauser, Stephen L, Field, Judith, Sawcer, Stephen J.,, McCauley, Jacob L.,, Lebrun Frenay C, Visser, Elizabeth M.,, Mason, Deborah, Oksenberg, Jorge R., Strange A, Wilkins, Alastair,, Camu, W, Catherine Schaefer, Amy Strange, Jelčić, I, Ivinson, Adrian, Field, Judith,, Annette Oturai, Band G, Halfpenny, Christopher, Martinelli, Vittorio, Zipp, F, Wilson, James, Mireia Sospedra, Harbo, Hanne F., Donnelly, Peter, Alizadeh, Mehdi, Jochim, Angela, Cusi, Daniele,, Barrett, Jeffrey,, Duddy, Martin,, McCauley, Jacob L., Grummel, V, Link, J, Pericak-Vance, MA, Mero IL, Dubois, Benedicte,, Koivisto, Keijo,, Compston A, Pirinen, M, Davis, Mary F.,, Celius, EG, Andrews, Robert,, Korn, Thomas, Liberatore G, Piehl F, Lie BA, Hall, Gillian, Cavalla, P, Myhr, Kjell-Morten,, Thomas M. C. Binder, Taylor, Bruce,, Biberacher, Viola, Gieger, Christian, Fiddes, Barnaby, Hawkins, C, Shen, L, Larsson, M, Camu, William,, Patsopoulos NA, Hillier, Charles, Søndergaard HB, Hafler D, Tienari, Pentti, Salvetti, Marco,, Fiddes, B, Brundin, Lou,, Evangelou, N, Bomfim, IL, Shah, Tejas S, Caillier, Stacy J.,, Sellebjerg, Finn,, Duddy, Martin, Galimberti D, Lars Alfredsson, Cusi, D, Freeman, C, Wiley, James, Andrews, Robert, Loukas Moutsianas, Frohlich, Irene Y., Winkelmann, J, Christian Gieger, Angela Jochim, Martin, C, Shields, Simon, Pericak-Vance, Margaret A.,, Harley, James, Hauser, SL, Leone, Maurizio A., Ban M, Pericak Vance MA, Blackburn, H, Bernardinelli L, Per Soelberg Sorensen, Graeme Stewart, De Jager P, Lill, Christina, Hillert, J, Hintzen, Rogier,, Wassila Carpentier, Maria Ban, Federica Esposito, Eva Zindler, Zajicek J, Carpentier, Wassila, Binder, Thomas, Macciardi, Fabio,, Lee, MH, Barcellos LF, Liberatore, Giuseppe, Jan Hillert, Fontaine, B, Wilson, JF, D.M. Cusi, Hamsten A, Zajicek, John,, Martin, R, Timothy Harrower, Gourraud, Pierre-Antoine,, Dilthey, Alexander T., Kronsbein, H, Pirinen, Matti,, Leppa, Virpi,, C. Agliardi, Konidari, I, Schnetz Boutaud, NC, Beecham, A H, Graham, Andrew,, Reunanen, Mauri, Shah, Tejas S., Haines JL, Schnetz-Boutaud, Nathalie C.,, Mccauley, Jacob, Cournu-Rebeix, I, McCabe, Cristin,, Duddy, M, Graham A, van Duijn, Cornelia, M., Oksenberg, Jorge, R, Moutsianas, Loukas,, Bellenguez, C, Andre Franke, Ban, Maria,, Thijs V, Guaschino, C, Gordon Mazibrada, Selter, Rebecca C.,, Ling Shen, Buck, D, van Duijn, C, Celius EG, Hafler, David, Gillian Hall, Juliane Winkelmann, Lindén M, Muni Hoshi, Lee, Michelle, Nilsson, Petra,, Lebrun-Frenay, C, Vincent Damotte, Keijo Koivisto, Gourraud, Pierre-Antoine, Baranzini, Sergio E.,, Franke, Andre,, Esposito, F, Cristin Mccabe, Corrado, Lucia,, Jorge R. Oksenberg, Galimberti, Daniela, Halfpenny, Christopher,, Nicholas, Richard, Taylor, B, De Jager, P, Kilpatrick T, Vucic, Steve,, Sarah Edkins, Lycke J, Margaret A. Pericak Vance, Baranzini, Sergio, E, Carpentier, W, Filippo Martinelli Boneschi, Hawkins C, Slee, Mark, Lee, Michelle H., Hunt, Sarah E.,, Agliardi, C, Compston, A, de Jager, Philip, L, Alfredsson, L, Mary F. Davis, Berthele A, Linden, Magdalena,, Oturai A, Chris Cotsapas, Martin Duddy, Camu, William, Harley J, Lindén, M, Binder, Thomas M. C., Robberecht, W, An Goris, Lechner-Scott, Jeannette, Donnelly, P, Patsopoulos, NA, Bellenguez, Céline, Manrique, Clara P, Kendall, B, Rodegher, M, Lechner Scott, J, Fontaine, Bertrand, Harbo HF, Gieger, C, Piehl, Fredrik, Hall, Per,, Butzkueven H, Gourraud PA, Nathalie C. Schnetz Boutaud, Cusi D, Visser, EM, Jel?i?, Ilijas, McCauley, Jacob L, Pirinen, Matti, Graetz, C, van der Linden, M, Saarela J, Hellenthal, Garrett, Shah, TS, Patsopoulos, Nikolaos A., Caillier, SJ, Helle Bach Søndergaard, de Jager, Philip,, Hawkins, Clive, Hafler, David,, Magdalena Linden, Berthele, A, Alexander T. Dilthey, Clara P. Manrique, Barizzone, N, Sandip Shaunak, Macciardi F, Quach, Hong, Christiane Graetz, Schaefer, C, Barizzone, Nadia,, Grummel V, Hoshi, Muni,, Haines, Jonathan L., ?, ?, Elovaara, I, Myhr, Kjell-Morten, Sospedra M, Korn T, Duijn, Cornelia, Mescheriakova, Julia,, Hemmer, Bernhard, Delgado, Silvia R.,, Clive Hawkins, Dilthey AT, Davis, MF, Di Sapio, A, Elovaara, Irina,, Blackburn H, Taylor, Bruce, Mark Lathrop, Hadjixenofontos A, Berthele, Achim,, Cavalla P, Price, Siân E., Cosemans L, F Barcellos, Lisa,, Moutsianas, Loukas, Gilles Defer, Binder TM, Robertson, Neil P.,, Schnetz Boutaud NC, Leone, MA, Bernardinelli, Luisa, Christine Lebrun Frenay, Defer, Gilles, Thijs, V, Selter, Rebecca C., Trevor Kilpatrick, Bomfim, Izaura L., Martinelli-Boneschi, F, Thomas Korn, Piehl, F, Quach, H, Tomas Olsson, Donnelly, Peter,, Baranzini, Sergio E., Lathrop M, Julia Mescheriakova, Slee M, Deborah Mason, Selter, Rebecca C, Sawcer SJ, Linden, Magdalena, Cournu Rebeix, I, David Booth, Graham, A, Petra Nilsson, Stephen J. Sawcer, Esposito, Federica, Stewart G, Barcellos, Lisa, Binder, TMC, Ban, M, Fontaine B, Janna Saarela, Evangelou N, Booth D, Shields S, Leone MA, Sospedra, Mireia,, Westerlind, H, Binder, Thomas MC, Esposito, Federica,, Leppä V, Mazibrada, Gordon, Broadley S, Lund University., Anders Hamsten, Luessi, Felix,, Mauri Reunanen, Ingrid Kockum, Cournu-Rebeix, Isabelle,, Shaunak S, Slee, M, Schnetz-Boutaud, Nathalie, Lill, Christina M., Deloukas P, Saarela, J, Liberatore, Giuseppe,, Nicholas R, Olsson, Tomas,, Rog, D, Robertson NP, Xifara, Dionysia, Ashley H. Beecham, Ticca, Anna, Tienari, P, Martinelli, V, Brundin, Lou, Binder, Thomas M C, Felix Luessi, DAlfonso, Sandra,, di Sapio, Alessia,, Mazibrada G, Sorensen, PS, Schaefer C, Xifara, D K, Hobart J, Caillier, Stacy, J, Goris, An,, Luessi, Felix, Larsson M, Goris A, D'Alfonso, Sandra, Sundqvist, Emilie,, Band, Gavin, Caillier, Stacy J., Strange, A, Bergamaschi, Laura, Bergamaschi, Laura,, Jagodic, Maja, Price, Sian E., Schnetz-Boutaud, NC, Deloukas, Panos, Grummel, Verena, Thijs, Vincent, Frohlich, Irene Y.,, John Zajicek, Barrett, J, Anderson, Carl, Vittorio Martinelli, Hintzen R, Shen, Ling, Hellenthal, G, Damotte V, Sorensen, Per Soelberg, Defer G, Jochim, A, Wilson, James F.,, Alfredsson L, Winkelmann, Juliane,, Mark Slee, Band, G, Winkelmann J, McVean, G, Carpentier W, McCabe C, Mazibrada, Gordon,, Link, Jenny, Delgado, Silvia R, Alastair Compston, Cree, Bruce A C, Jonathan L. Haines, Pierre Antoine Gourraud, Binder, TM, Elizabeth M. Visser, Mescheriakova, Julia, Hamsten, A, Lindén, Magdalena, Wiley, James S., Hillier, Charles,, Barrett J, Band, Gavin,, Isabelle Cournu Rebeix, Korn, Thomas,, Beecham, Ashley H, Tienari, Pentti,, Beecham, AH, Cree, Bruce A C.,, Davis, Mary F, Comi G, De Jager, Philip, Leone, Maurizio A, Ivinson, Adrian J.,, Coman, Irene, Myhr, KM, Larsson, Malin, Siffrin, V, McCabe, C, Xifara, Dionysia K., Harrower, Timothy,, Nagels G, Kemppinen, Anu,, Hawkins, Clive,, Hall, P, Jochim A, Baker, Amie, Xifara, DK, Edkins, Sarah,, Shen, Ling,, Davis MF, Hanne F. Harbo, Hakonarson, Hakon,, Jelcic, Ilijas,, Dubois B, Wiley, James S, Lathrop, Mark,, Spurkland, A, Lill CM, Silvia R. Delgado, Celius, Elisabeth G, Fiddes B, Hall G, Booth, D, Butzkueven, H, Charles Hillier, Coman, Irene,, Vincent Thijs, Hall P, Sawcer, Stephen J, Hall, G, Robertson, Neil P., Celine Bellenguez, Vucic, Steve, Ticca A, Lebrun-Frenay, Christine,, Elovaara, Irina, Achim Berthele, Rodegher, Mariaemma, Beecham, Ashley H., Dorothea Buck, Dilthey, Alexander,, Hunt, SE, Lou Brundin, Nagels, Guy, Robertson, Neil, Malin Larsson, Field, J, Freeman, Colin,, Gil Mcvean, Xifara, Dionysia K.,, Bruno Brochet, Dilthey, AT, Volker Siffrin, Luessi, F, Lie, Benedicte A., Siffrin V, Hellenthal, Garrett,, McCauley, JL, Harrower, Timothy, Cotsapas, C, Delgado, SR, Cree, Bruce AC, Lie, Benedicte, Biberacher, Viola,, Berthele, Achim, Leppa, Virpi, Harrower T, Oturai, A, Link J, Leppä, Virpi, Hadjixenofontos, Athena,, Delgado SR, D’alfonso, Sandra, Bergamaschi L, Baker, Amie,, Kockum I, Reunanen, Mauri,, Wiley, JS, di Sapio A, Ivinson, Adrian J, Martin, Roland, Camu W, Winkelmann, Juliane, Olsson T, Dubois, Benedicte, Zajicek, John, Frohlich, Irene Y, Benedicte Dubois, Simon Broadley, Neil P. Robertson, Anna Ticca, Bellenguez C, Lee, Michelle H.,, Davis, Mary F., Konidari, Ioanna, Lie, Benedicte A, Kockum, I, Sorosina M, Blackburn, Hannah, Edkins S, F. MARTINELLI BONESCHI, Biberacher, V, Baker, A, Liberatore, G, Siffrin, Volker,, Hakonarson H, Defer, G, Wiley JS, P.G. Brambilla, Gieger, Christian,, Link, Jenny,, Kockum, Ingrid,, Strange, Amy, Oksenberg JR, John Thorpe, Cree, BA, Kjell Morten Myhr, Evangelou, Nikos, Lebrun Frenay, C, Hall, Gillian,, Macciardi, Fabio, Inger Lise Mero, Pericak-Vance, Margaret A, Zindler, Eva, Comi, G, Helmut Butzkueven, Lechner-Scott, Jeannette,, Claes Martin, Nikos Evangelou, Jagodic, Maja,, Cusi, Daniele, Guaschino C, Corrado, L, Fiddes, Barnaby,, Salvetti, Marco, Virpi Leppa, Schnetz-Boutaud, Nathalie C., Martin R, Lee MH, Brambilla P, Brochet B, Barcellos Lf 2. Wellcome Trust Case Control Consortium, Nadia Barizzone, Jeffrey Barrett, Pentti Tienari +999 more
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The Impact of ACE2 Polymorphisms on COVID-19 Disease: Susceptibility, Severity, and Therapy
The coronavirus disease 2019 (COVID-19), caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has currently spread worldwide, leading to high morbidity and mortality.
Fei Chen, Yankun Zhang, Xiaoyun Li, Wen Li, Xuan Liu, Xinyu Xue +5 more
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Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits [PDF]
Nonalcoholic fatty liver disease (NAFLD) clusters in families, but the only known common genetic variants influencing risk are near PNPLA3. We sought to identify additional genetic variants influencing NAFLD using genome-wide association (GWA) analysis ...
Palmer Cameron D., Schwartz, SM, Benjamin F Voight, Fox, Caroline S., Hwang, Shih-Jen, GIANT Consortium, Launer, Lenore, Hernaez, R, Melissa E. Garcia, Hwang, SJ, Pietiläinen, Kirsi Hannele, Harris, Tamara B, Mitchell, Braxton D., CRISPONI, LAURA, Butler, Johannah L, Massaro, J.M., Gudnason, V., Feitosa, MF, Jeanne M. Clark, Massaro, J., Jørgensen, Torben, O'Donnell Christopher J., Stephen M. Schwartz, Schwartz SM, Palmer, C., Eiriksdottir, Gudny, Joel N Hirschhorn, Kao W. H. Linda, Laura M. Yerges-Armstrong, Stephen M Schwartz, Jeanne M Clark, Borecki Ingrid B., Mitchell, Braxton, Smith, AV, null null, Palmer, C.D., Kao, W.H.L., Johannah L. Butler, Butler, Johannah L., Borecki, IB, Palmer CD, Salomaa, V., Hirschhorn, Joel, Borecki, Ingrid B., Johannah L Butler, Speliotes, Elizabeth K, Fox Caroline S., Shuldiner, Alan R., Fox CS, Hoffmann, Udo, Palmer, CD, Nalls, Michael, Garcia, Melissa E, Hwang SJ, Wu, Jun, Mary F Feitosa, Massaro, Joseph M., Eiriksdottir G, Schadt, EE, Voight, Benjamin F, Nalls, Michael A., Clark, Jeanne M., Eiriksdottir, G, Smith AV, O'Donnell, CJ, Sahani DV, NASH CRN, Schwartz Stephen M., Lauren J Kim, CJ, Butler Johannah L., Speliotes, Elizabeth K., Tamara B Harris, Speliotes, E.K., Feitosa, Mary F., Joseph M. Massaro, Caroline S. Fox, Smith, Albert V, Launer, Lenore J, Shuldiner Alan R., GOLD Consortium, Hoffmann, U, Harris, Tamara, Tamara B. Harris, Garcia Melissa E., Kao, W. H Linda, Albert V. Smith, Mitchell BD, Smith, A.V., Voight, BF, Voight, Benjamin F., Mary F. Feitosa, Alan R Shuldiner, Kim, L.J., Kao, W H Linda, Speliotes EK, Siscovick, DS, Schadt, Eric E., Fox, C.S., Vilmundur Gudnason, Sahani, Dushyant V, Ruben Hernaez, Raychaudhuri, Soumya, Cameron D Palmer, Dushyant V Sahani, Salomaa, Veikko, O'Donnell, Christopher J., Feitosa, Mary, Shuldiner AR, Carr, J Jeffrey, Harris, T.B., Speliotes Elizabeth K., Salomaa, V, Tomas, Marta, Palmer, Cameron D, Tomas, M, Wu Jun, Siscovick David S., Launer Lenore J., Palmer, Cameron, et al., de Geus, E.J.C.; id_orcid, Butler, J.L., Clark Jeanne M., Hernaez, R., Mitchell, Braxton D, Borecki, Ingrid B, Shuldiner, A.R., Voight Benjamin F., Benjamin F. Voight, Kao, WH Linda, Lenore J. Launer, Feitosa MF, Siscovick, David, Nalls, M.A., Carr, J. Jeffrey, Clark, JM, Garcia, Melissa E., Lenore J Launer, Hirschhorn Joel N., Hwang, S.J., Eiriksdottir, G., Launer, L.J., Laura M Yerges-Armstrong, Melissa E Garcia, Hwang, S., Christopher J O'Donnell, Yerges-Armstrong, Laura M., Clark, J., Kim Lauren J., Launer, Lenore J., Hirschhorn JN, Harris, Tamara B., Michael A. Nalls, Launer LJ, Boomsma, D.I.; id_orcid, J Jeffrey Carr, Massaro, JM, Braxton D. Mitchell, Posthuma, D.; id_orcid, Heijer, M. den, Shih-Jen Hwang, Siscovick, David S., Mitchell, BD, Siscovick DS, Gudnason V, Yerges-Armstrong, L.M., Launer, LJ (Lenore), Gudnason, Vilmundur, Veikko Salomaa, O' DONNELL, Willemsen, G.; id_orcid, Mitchell, B., Shuldiner, Alan, Kim, Lauren J, Sahani Dushyant V., Smith Albert V., David S Siscovick, Schadt, Eric, Kao WH, Fox, CS, David S. Siscovick, Carr JJ, Butler, Johannah, Massaro, Joseph, Hoffmann U, Garcia, Melissa, Tomas Marta, Mitchell Braxton D., Christopher J. O'Donnell, Lokki, Marja-Liisa, Gudnason Vilmundur, Fox, Caroline, DIAGRAM Consortium, Schadt, E.E., Tomas M, Hirschhorn, J.N., Jun Wu, Nalls, M., Ingrid B Borecki, Launer, L., Harris TB, Palmer, Cameron D., O'Donnell, C.J., Nalls MA, Voight BF, Borecki IB, Salomaa V, Massaro, Joseph M, Voight, B.F., Nalls, MA, O'Donnell, Christopher J, Garcia, M., Harris Tamara B., Kao, W., Kao, WH, Elizabeth K Speliotes, Gudnason, V, Siscovick, D.S., Yerges-Armstrong, Laura, Siscovick, David S, Cameron D. Palmer, Smith, Albert, Garcia ME, Marta Tomas, Clark, Jeanne M, Eric E. Schadt, Hottenga, J.J., Wu, J, Caroline S Fox, Joel N. Hirschhorn, Wu, J., Hoffmann Udo, Schadt EE, Albert V Smith, Carr J. Jeffrey, Sahani, D.V., J. Jeffrey Carr, Michael A Nalls, Feitosa, Mary F, Kao, W.H., O'Donnell, Christopher, Kim LJ, Nalls Michael A., Feitosa Mary F., Schwartz, S.M., Smith, Albert V., Shuldiner, Alan R, Voight, Benjamin, Wu J, Alan R. Shuldiner, Borecki, Ingrid, Massaro Joseph M., Lauren J. 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M., Ong, Ken K., Fuchs, Michael, Sinisalo, Juha, Homuth, Georg, Deloukas, Panos, Jarick, Ivonne, Wiklund, Fredrik, Wareham, Nicholas J., Laitinen, Jaana, Hawkins, Carol, Brown, Morris J., Stumvoll, Michael, Karpe, Fredrik, Timpson, Nicholas J., Pietiläinen, Kirsi H., Hofman, Albert, Durelle, Janis, Glazer, Nicole L., Meitinger, Thomas, Li, Shengxu, Neuschwander-Tetri, Brent A., Luben, Robert N., Bornstein, Stefan R., Moffatt, Miriam F., Vuppalanchi, Raj, Krude, Heiko, Robuck, Patricia R., McCarthy, Anne, Sandhu, Bimalijit, Wichmann, H. -Erich, Sternberg, Alice, Stein, Tanya, Guy, Cynthia, Hassanein, Tarek, Bambha, Kiran, Doney, Alex, Hveem, Kristian, Mohlke, Karen L., Midthjell, Kristian, Heid, Iris M., Lindgren, Cecilia M., Kutalik, Zoltán, Hattersley, Andrew T., Abdelmalek, Manal, Sirlin, Claude, Kaakinen, Marika, Martin, Nicholas G., Samani, Nilesh J., Bouatia-Naji, Nabila, Alavere, Helene, Langenberg, Claudia, Barroso, Inês, Siegner, Joan, Eriksson, Johan G., Doo, Edward, Carola Zillikens, M., Geus, Eco J. C., North, Kari E., Biebermann, Heike, Teder-Laving, Maris, Ragozzino, Linda, Swift, Amy, Pouta, Anneli, Lorentzon, Mattias, Sanders, Alan R., Schreiber, Stefan, Rivadeneira, Fernando, Derdoy, Jose, Grallert, Harald, Willemsen, Gonneke, Saramies, Jouko, Vatin, Vincent, Fu, Mao, Clarke, Robert, Rosenthal, Monique, Luketic, Velimir A. C., Mangino, Massimo, Tonascia, James, Barlassina, Christina, Ünalp, Aynur, Thorsteinsdottir, Unnur, Willer, Cristen J., Macciardi, Fabio, Hassanali, Neelam, Cummings, Oscar W., Stephens, Jonathan, Chines, Peter, John, Ulrich, Meyre, David, McCarthy, Mark I., Saxena, Richa, Hunter, David J., Marre, Michel, Merriman, Raphael, Navarro, Pau; id_orcid, Boeing, Heiner, O'DONNELL CJ, Jousilahti, Pekka, Kowdley, Kris V., Fisher, Eva, Rudan, Igor, Felix, Stephan B., Sandholt, Camilla, Reinehr, Thomas, Beckmann, Jacques S., Smith, George Davey, Morken, Mario A., van Ommen, Gert-Jan, Nelis, Mari, Ben-Shlomo, Yoav, White, Charles C., Alibrandi, Maria T. S., Everhart, Jay, Esko, Tõnu, Cooper, Matthew N., Absher, Devin M., Estrada, Karol, Johnson, Toby, Rief, Winfried, Gjesing, Anette P., GIANT Consortium, ,, MANUNTA P, Saunders, Cheryl, Scherag, Andre, Bennett, Amanda J., Hoffmann, Joyce, Nemesh, James, Kim, Wana, Heath, Andrew C., van Wingerden, Sophie, Blakemore, Alexandra I. F., Hui, Jennie, Pabst, Mark, Gold Consortium, ,, Montgomery, Grant W., Goyette, Philippe, Ferrell, Linda D., Levinson, Douglas F., Thompson, Judy, Bonnycastle, Lori L., Balkau, Beverley, Melander, Olle, Liang, Liming, Kolcic, Ivana, Segrè, Ayellet V., Seeff, Leonard, Kinnunen, Leena, Rybin, Denis, Nieminen, Markku S., Hansen, Torben, Sovio, Ulla, Witteman, Jacqueline C., Waite, Lindsay L., Nyholt, Dale R., Beilby, John P., Schipf, Sabine, Peters, Marjolein J., James, Alan L., O'Connell, Jeffrey R., Weyant, Robert J., Boyett, Sherry, Pramstaller, Peter P., Ohlsson, Claes, Kähönen, Mika, Tuomi, Tiinamaija, Metspalu, Andres, O'Donnell, CJ +799 more
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RASopathies are a group of rare genetic diseases caused by germline mutations in genes involved in the RAS–mitogen-activated protein kinase (RAS-MAPK) pathway. Whole-exome sequencing (WES) is a powerful approach for identifying new variants in coding and
Joseane Biso de Carvalho, Guilherme Loss de Morais, Thays Cristine dos Santos Vieira, Natana Chaves Rabelo, Juan Clinton Llerena, Sayonara Maria de Carvalho Gonzalez, Ana Tereza Ribeiro de Vasconcelos +6 more
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Background: The dynamics of SARS-CoV-2 alpha variant shedding and immune responses at the nasal mucosa remain poorly characterised. Methods: We measured infectious viral release, antibodies and cytokines in 426 PCR+ nasopharyngeal swabs from individuals ...
Blandine Monel, Delphine Planas, Ludivine Grzelak, Nikaïa Smith, Nicolas Robillard, Isabelle Staropoli, Pedro Goncalves, Françoise Porrot, Florence Guivel-Benhassine, Nathalie Demory Guinet, Julien Rodary, Julien Puech, Victor Euzen, Laurent Bélec, Galdric Orvoen, Léa Nunes, Véronique Moulin, Jacques Fourgeaud, Maxime Wack, Sandrine Imbeaud, Pascal Campagne, Darragh Duffy, James P. Di Santo, Timothée Bruel, Hélène Péré, David Veyer, Olivier Schwartz +26 more
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The NOD2 single nucleotide polymorphisms rs2066843 and rs2076756 are novel and common Crohn's disease susceptibility gene variants [PDF]
Background: The aims were to analyze two novel NOD2 variants (rs2066843 and rs2076756) in a large cohort of patients with inflammatory bowel disease and to elucidate phenotypic consequences.
Darina Czamara, Seiderer, J., Seiderer Julia, Ochsenkühn, Thomas, Beigel, F., Rüdiger P Laubender, Laubender, R., Glas, J., Müller-Myhsok, B., Czamara, D., Bertram Müller-Myhsok, Diegelmann Julia, Tillack, Cornelia, Pfennig Simone, Brand, Stephan, Göke, B., Brand Stephan, Thomas Ochsenkühn, Olszak Torsten, Weidinger Maria, Beigel, Florian, Weidinger, Maria, Ochsenkühn, T., Jürgens, Matthias, Jürgens, M., Cornelia Tillack, Julia Diegelmann, Beigel Florian, Müller-Myhsok Bertram, Jürgens Matthias, Göke, Burkhard, Pfennig, S., Pfennig, Simone, Peter Lohse, Seiderer, Julia, Glas, Jürgen, Laubender, Rüdiger P., Diegelmann, J., Lohse, P., Ochsenkühn Thomas, Müller-Myhsok, Bertram, Weidinger, M., Rüdiger P. Laubender, Burkhard Göke, Göke Burkhard, Stephan Brand, Laubender Rüdiger P., Maria Weidinger, Brand, S., Czamara, Darina, Jürgen Glas, Tillack Cornelia, Matthias Jürgens, Czamara Darina, Lohse, Peter, Diegelmann, Julia, Simone Pfennig, Glas Jürgen, Torsten Olszak, Olszak, T., Florian Beigel, Lohse Peter, Julia Seiderer, Olszak, Torsten, Tillack, C. +64 more
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