Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Sahar V. Mozaffari"'
Autor:
Michael W. Hart, Daryn A. Stover, Vanessa Guerra, Sahar V. Mozaffari, Carole Ober, Carina F. Mugal, Ingemar Kaj
Publikováno v:
PeerJ, Vol 6, p e4259 (2018)
Coevolution of genes that encode interacting proteins expressed on the surfaces of sperm and eggs can lead to variation in reproductive compatibility between mates and reproductive isolation between members of different species. Previous studies in m
Externí odkaz:
https://doaj.org/article/c2adb2d233794e49a2bcb3b771ed8add
Autor:
James R. Ashenhurst, Hoang Nhan, Janie F. Shelton, Shirley Wu, Joyce Y. Tung, Sarah L. Elson, James K. Stoller, Michelle Agee, Stella Aslibekyan, Adam Auton, Elizabeth Babalola, Robert K. Bell, Jessica Bielenberg, Katarzyna Bryc, Emily Bullis, Briana Cameron, Daniella Coker, Gabriel Cuellar Partida, Devika Dhamija, Sayantan Das, Teresa Filshtein, Kipper Fletez-Brant, Pierre Fontanillas, Will Freyman, Pooja M. Gandhi, Karl Heilbron, Barry Hicks, David A. Hinds, Karen E. Huber, Ethan M. Jewett, Yunxuan Jiang, Aaron Kleinman, Katelyn Kukar, Vanessa A. Lane, Keng-Han Lin, Maya Lowe, Marie K. Luff, Jennifer C. McCreight, Matthew H. McIntyre, Kimberly F. McManus, Steven J. Micheletti, Meghan E. Moreno, Joanna L. Mountain, Sahar V. Mozaffari, Priyanka Nandakumar, Elizabeth S. Noblin, Jared O’Connell, Aaron A. Petrakovitz, G. David Poznik, Morgan Schumacher, Anjali J. Shastri, Jingchunzi Shi, Suyash Shringarpure, Chao Tian, Vinh Tran, Xin Wang, Wei Wang, Catherine H. Weldon, Peter Wilton
Publikováno v:
Chest. 161:373-381
Background Alpha-1 antitrypsin deficiency (AATD) is an autosomal co-dominant condition that predisposes to emphysema, cirrhosis, panniculitis, and vasculitis. Under-recognition has prompted efforts to enhance early detection and testing of at-risk in
Publikováno v:
PLoS ONE, Vol 13, Iss 9, p e0203906 (2018)
Genomic imprinting is the phenomena that leads to silencing of one copy of a gene inherited from a specific parent. Mutations in imprinted regions have been involved in diseases showing parent of origin effects. Identifying genes with evidence of par
Externí odkaz:
https://doaj.org/article/b1b2a836876d403f8a85f9fe0f046763
Autor:
Karl Heilbron, Jingchunzi Shi, Wei Wang, Adrian M. Jubb, Steven J. Pitts, Sahar V. Mozaffari, Vladimir Vacic, Peng Yue, Xin Wang
Publikováno v:
The Journal of Pathology
Human genetics plays an increasingly important role in drug development and population health. Here we review the history of human genetics in the context of accelerating the discovery of therapies, present examples of how human genetics evidence sup
Autor:
Mitja I. Kurki, Juha Karjalainen, Priit Palta, Timo P. Sipilä, Kati Kristiansson, Kati Donner, Mary P. Reeve, Hannele Laivuori, Mervi Aavikko, Mari A. Kaunisto, Anu Loukola, Elisa Lahtela, Hannele Mattsson, Päivi Laiho, Pietro Della Briotta Parolo, Arto Lehisto, Masahiro Kanai, Nina Mars, Joel Rämö, Tuomo Kiiskinen, Henrike O. Heyne, Kumar Veerapen, Sina Rüeger, Susanna Lemmelä, Wei Zhou, Sanni Ruotsalainen, Kalle Pärn, Tero Hiekkalinna, Sami Koskelainen, Teemu Paajanen, Vincent Llorens, Javier Gracia-Tabuenca, Harri Siirtola, Kadri Reis, Abdelrahman G. Elnahas, Katriina Aalto-Setälä, Kaur Alasoo, Mikko Arvas, Kirsi Auro, Shameek Biswas, Argyro Bizaki-Vallaskangas, Olli Carpen, Chia-Yen Chen, Oluwaseun A. Dada, Zhihao Ding, Margaret G. Ehm, Kari Eklund, Martti Färkkilä, Hilary Finucane, Andrea Ganna, Awaisa Ghazal, Robert R. Graham, Eric Green, Antti Hakanen, Marco Hautalahti, Åsa Hedman, Mikko Hiltunen, Reetta Hinttala, Iiris Hovatta, Xinli Hu, Adriana Huertas-Vazquez, Laura Huilaja, Julie Hunkapiller, Howard Jacob, Jan-Nygaard Jensen, Heikki Joensuu, Sally John, Valtteri Julkunen, Marc Jung, Juhani Junttila, Kai Kaarniranta, Mika Kähönen, Risto M. Kajanne, Lila Kallio, Reetta Kälviäinen, Jaakko Kaprio, Nurlan Kerimov, Johannes Kettunen, Elina Kilpeläinen, Terhi Kilpi, Katherine Klinger, Veli-Matti Kosma, Teijo Kuopio, Venla Kurra, Triin Laisk, Jari Laukkanen, Nathan Lawless, Aoxing Liu, Simonne Longerich, Reedik Mägi, Johanna Mäkelä, Antti Mäkitie, Anders Malarstig, Arto Mannermaa, Joseph Maranville, Athena Matakidou, Tuomo Meretoja, Sahar V. Mozaffari, Mari EK. Niemi, Marianna Niemi, Teemu Niiranen, Christopher J. O’Donnell, Ma’en Obeidat, George Okafo, Hanna M. Ollila, Antti Palomäki, Tuula Palotie, Jukka Partanen, Dirk S. Paul, Margit Pelkonen, Rion K. Pendergrass, Slavé Petrovski, Anne Pitkäranta, Adam Platt, David Pulford, Eero Punkka, Pirkko Pussinen, Neha Raghavan, Fedik Rahimov, Deepak Rajpal, Nicole A. Renaud, Bridget Riley-Gillis, Rodosthenis Rodosthenous, Elmo Saarentaus, Aino Salminen, Eveliina Salminen, Veikko Salomaa, Johanna Schleutker, Raisa Serpi, Huei-yi Shen, Richard Siegel, Kaisa Silander, Sanna Siltanen, Sirpa Soini, Hilkka Soininen, Jae H. Sul, Ioanna Tachmazidou, Kaisa Tasanen, Pentti Tienari, Sanna Toppila-Salmi, Taru Tukiainen, Tiinamaija Tuomi, Joni A. Turunen, Jacob C. Ulirsch, Felix Vaura, Petri Virolainen, Jeffrey Waring, Dawn Waterworth, Robert Yang, Mari Nelis, Anu Reigo, Andres Metspalu, Lili Milani, Tõnu Esko, Caroline Fox, Aki S. Havulinna, Markus Perola, Samuli Ripatti, Anu Jalanko, Tarja Laitinen, Tomi Mäkelä, Robert Plenge, Mark McCarthy, Heiko Runz, Mark J. Daly, Aarno Palotie
Population isolates such as Finland provide benefits in genetic studies because the allelic spectrum of damaging alleles in any gene is often concentrated on a small number of low-frequency variants (0.1% ≤ minor allele frequency < 5%), which survi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::935b1348ad5077383c2beaa56949f6d5
https://doi.org/10.1101/2022.03.03.22271360
https://doi.org/10.1101/2022.03.03.22271360
Autor:
Kristi Krebs, Jonas Bovijn, Neil Zheng, Maarja Lepamets, Jenny C. Censin, Tuuli Jürgenson, Dage Särg, Erik Abner, Triin Laisk, Yang Luo, Line Skotte, Frank Geller, Bjarke Feenstra, Wei Wang, Adam Auton, Soumya Raychaudhuri, Tõnu Esko, Andres Metspalu, Sven Laur, Dan M. Roden, Wei-Qi Wei, Michael V. Holmes, Cecilia M. Lindgren, Elizabeth J. Phillips, Reedik Mägi, Lili Milani, João Fadista, Michelle Agee, Stella Aslibekyan, Robert K. Bell, Katarzyna Bryc, Sarah K. Clark, Sarah L. Elson, Kipper Fletez-Brant, Pierre Fontanillas, Nicholas A. Furlotte, Pooja M. Gandhi, Karl Heilbron, Barry Hicks, David A. Hinds, Karen E. Huber, Ethan M. Jewett, Yunxuan Jiang, Aaron Kleinman, Keng-Han Lin, Nadia K. Litterman, Marie K. Luff, Jennifer C. McCreight, Matthew H. McIntyre, Kimberly F. McManus, Joanna L. Mountain, Sahar V. Mozaffari, Priyanka Nandakumar, Elizabeth S. Noblin, Carrie A.M. Northover, Jared O’Connell, Aaron A. Petrakovitz, Steven J. Pitts, G. David Poznik, J. Fah Sathirapongsasuti, Anjali J. Shastri, Janie F. Shelton, Suyash Shringarpure, Chao Tian, Joyce Y. Tung, Robert J. Tunney, Vladimir Vacic, Xin Wang, Amir S. Zare
Publikováno v:
The American Journal of Human Genetics. 107:612-621
Hypersensitivity reactions to drugs are often unpredictable and can be life threatening, underscoring a need for understanding their underlying mechanisms and risk factors. The extent to which germline genetic variation influences the risk of commonl
Autor:
Nadia Litterman, Steven J. Micheletti, Janie F. Shelton, Joanna L. Mountain, Michelle Agee, Samantha G. Ancona Esselmann, Sayantan Das, Ethan M. Jewett, S. Clark, A. Petrakovitz, Karl Heilbron, Suyash Shringarpure, Jeffery R. O'Connell, G. David Poznik, Pierre Fontanillas, Kipper Fletez-Brant, Keng-Han Lin, Sahar V. Mozaffari, William A. Freyman, Joyce Y. Tung, Carrie Northover, Anjali J. Shastri, Kimberly F. McManus, Adam Auton, Aaron Kleinman, L. Noblin, P. Gandhi, Xin Wang, Vladimir Vacic, Chao Tian, Karen E. Huber, Jennifer C. McCreight, Yunxuan Jiang, R. Tunney, Robert K. Bell, Sarah L. Elson, Barry W. Hicks, A. Zare, Sandra Beleza, Stella Aslibekyan, David A. Hinds, Meghan E. Moreno, Steven J. Pitts, Kasia Bryc, Matthew H. McIntyre, P. Nandakumar
Publikováno v:
American Journal of Human Genetics
According to historical records of transatlantic slavery, traders forcibly deported an estimated 12.5 million people from ports along the Atlantic coastline of Africa between the 16th and 19th centuries, with global impacts reaching to the present da
Autor:
Upekha E. Liyanage, Stuart MacGregor, D. Timothy Bishop, Jianxin Shi, Jiyuan An, Jue Sheng Ong, Xikun Han, Richard A. Scolyer, Nicholas G. Martin, Sarah E. Medland, Enda M. Byrne, Adèle C. Green, Robyn P.M. Saw, John F. Thompson, Jonathan Stretch, Andrew Spillane, Yunxuan Jiang, Chao Tian, Scott G. Gordon, David L. Duffy, Catherine M. Olsen, David C. Whiteman, Georgina V. Long, Mark M. Iles, Maria Teresa Landi, Matthew H. Law, Michelle Agee, Stella Aslibekyan, Adam Auton, Elizabeth Babalola, Robert K. Bell, Jessica Bielenberg, Katarzyna Bryc, Emily Bullis, Briana Cameron, Daniella Coker, Gabriel Cuellar Partida, Devika Dhamija, Sayantan Das, Sarah L. Elson, Teresa Filshtein, Kipper Fletez-Brant, Pierre Fontanillas, Will Freyman, Pooja M. Gandhi, Karl Heilbron, Barry Hicks, David A. Hinds, Karen E. Huber, Ethan M. Jewett, Aaron Kleinman, Katelyn Kukar, Keng-Han Lin, Maya Lowe, Marie K. Luff, Jennifer C. McCreight, Matthew H. McIntyre, Kimberly F. McManus, Steven J. Micheletti, Meghan E. Moreno, Joanna L. Mountain, Sahar V. Mozaffari, Priyanka Nandakumar, Elizabeth S. Noblin, Jared O'Connell, Aaron A. Petrakovitz, G. David Poznik, Anjali J. Shastri, Janie F. Shelton, Jingchunzi Shi, Suyash Shringarpure, Vinh Tran, Joyce Y. Tung, Xin Wang, Wei Wang, Catherine H. Weldon, Peter Wilton
Publikováno v:
The Journal of investigative dermatology. 142(6)
Genome-wide association studies (GWAS) have identified a number of risk loci for cutaneous melanoma. Cutaneous melanoma shares overlapping genetic risk (genetic correlation) with a number of other traits, including its risk factors such as sunburn pr
Publikováno v:
Bioinformatics. 35:487-496
Motivation Genomic sequencing studies, including RNA sequencing and bisulfite sequencing studies, are becoming increasingly common and increasingly large. Large genomic sequencing studies open doors for accurate molecular trait heritability estimatio
Autor:
Francesco Cucca, Edoardo Fiorillo, Jeanne M. DeCara, Roberto M. Lang, Sahar V. Mozaffari, Carole Ober, Sanjiv J. Shah, Dan L. Nicolae, Carlo Sidore
Publikováno v:
Communications Biology
Communications Biology, Vol 2, Iss 1, Pp 1-9 (2019)
Communications Biology, Vol 2, Iss 1, Pp 1-9 (2019)
The impact of the parental origin of associated alleles in GWAS has been largely ignored. Yet sequence variants could affect traits differently depending on whether they are inherited from the mother or the father, as in imprinted regions, where iden