Zobrazeno 1 - 10
of 50
pro vyhledávání: '"Tarjinder Singh"'
Autor:
Brianna I. Flynn, Emily M. Javan, Eugenia Lin, Zoe Trutner, Karl Koenig, Kenoma O. Anighoro, Eucharist Kun, Alaukik Gupta, Tarjinder Singh, Prakash Jayakumar, Vagheesh M. Narasimhan
Publikováno v:
npj Digital Medicine, Vol 6, Iss 1, Pp 1-12 (2023)
Abstract Electronic health records are often incomplete, reducing the power of genetic association studies. For some diseases, such as knee osteoarthritis where the routine course of diagnosis involves an X-ray, image-based phenotyping offers an alte
Externí odkaz:
https://doaj.org/article/647e7ff6418b41ecb8014834aa3790ff
Autor:
Ralda Nehme, Olli Pietiläinen, Mykyta Artomov, Matthew Tegtmeyer, Vera Valakh, Leevi Lehtonen, Christina Bell, Tarjinder Singh, Aditi Trehan, John Sherwood, Danielle Manning, Emily Peirent, Rhea Malik, Ellen J. Guss, Derek Hawes, Amanda Beccard, Anne M. Bara, Dane Z. Hazelbaker, Emanuela Zuccaro, Giulio Genovese, Alexander A. Loboda, Anna Neumann, Christina Lilliehook, Outi Kuismin, Eija Hamalainen, Mitja Kurki, Christina M. Hultman, Anna K. Kähler, Joao A. Paulo, Andrea Ganna, Jon Madison, Bruce Cohen, Donna McPhie, Rolf Adolfsson, Roy Perlis, Ricardo Dolmetsch, Samouil Farhi, Steven McCarroll, Steven Hyman, Ben Neale, Lindy E. Barrett, Wade Harper, Aarno Palotie, Mark Daly, Kevin Eggan
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-21 (2022)
How the 22q11.2 deletion predisposes to psychiatric disease is unclear. Here, the authors examine living human neuronal cells and show that 22q11.2 regulates the expression of genes linked to autism during early development, and genes linked to schiz
Externí odkaz:
https://doaj.org/article/0268f31356f54488b25b24160fcce4bc
Autor:
Yu-Han H. Hsu, Greta Pintacuda, Ruize Liu, Eugeniu Nacu, April Kim, Kalliopi Tsafou, Natalie Petrossian, William Crotty, Jung Min Suh, Jackson Riseman, Jacqueline M. Martin, Julia C. Biagini, Daya Mena, Joshua K.T. Ching, Edyta Malolepsza, Taibo Li, Tarjinder Singh, Tian Ge, Shawn B. Egri, Benjamin Tanenbaum, Caroline R. Stanclift, Annie M. Apffel, Steven A. Carr, Monica Schenone, Jake Jaffe, Nadine Fornelos, Hailiang Huang, Kevin C. Eggan, Kasper Lage, Stephan Ripke, Benjamin M. Neale, Aiden Corvin, James T.R. Walters, Kai-How Farh, Peter A. Holmans, Phil Lee, Brendan Bulik-Sullivan, David A. Collier, Tune H. Pers, Ingrid Agartz, Esben Agerbo, Margot Albus, Madeline Alexander, Farooq Amin, Silviu A. Bacanu, Martin Begemann, Richard A. Belliveau, Jr., Judit Bene, Sarah E. Bergen, Elizabeth Bevilacqua, Tim B. Bigdeli, Donald W. Black, Richard Bruggeman, Nancy G. Buccola, Randy L. Buckner, William Byerley, Wiepke Cahn, Guiqing Cai, Dominique Campion, Rita M. Cantor, Vaughan J. Carr, Noa Carrera, Stanley V. Catts, Kimberley D. Chambert, Raymond C.K. Chan, Ronald Y.L. Chan, Eric Y.H. Chen, Wei Cheng, Eric FC. Cheung, Siow Ann Chong, C. Robert Cloninger, David Cohen, Nadine Cohen, Paul Cormican, Nick Craddock, James J. Crowley, David Curtis, Michael Davidson, Kenneth L. Davis, Franziska Degenhardt, Jurgen Del Favero, Ditte Demontis, Dimitris Dikeos, Timothy Dinan, Srdjan Djurovic, Gary Donohoe, Elodie Drapeau, Jubao Duan, Frank Dudbridge, Naser Durmishi, Peter Eichhammer, Johan Eriksson, Valentina Escott-Price, Laurent Essioux, Ayman H. Fanous, Martilias S. Farrell, Josef Frank, Lude Franke, Robert Freedman, Nelson B. Freimer, Marion Friedl, Joseph I. Friedman, Menachem Fromer, Giulio Genovese, Lyudmila Georgieva, Ina Giegling, Paola Giusti-Rodríguez, Stephanie Godard, Jacqueline I. Goldstein, Vera Golimbet, Srihari Gopal, Jacob Gratten, Lieuwe de Haan, Christian Hammer, Marian L. Hamshere, Mark Hansen, Thomas Hansen, Vahram Haroutunian, Annette M. Hartmann, Frans A. Henskens, Stefan Herms, Joel N. Hirschhorn, Per Hoffmann, Andrea Hofman, Mads V. Hollegaard, David M. Hougaard, Masashi Ikeda, Inge Joa, Antonio Julià, René S. Kahn, Luba Kalaydjieva, Sena Karachanak-Yankova, Juha Karjalainen, David Kavanagh, Matthew C. Keller, James L. Kennedy, Andrey Khrunin, Yunjung Kim, Janis Klovins, James A. Knowles, Bettina Konte, Vaidutis Kucinskas, Zita Ausrele Kucinskiene, Hana Kuzelova-Ptackova, Anna K. Kähler, Claudine Laurent, Jimmy Lee, S. Hong Lee, Sophie E. Legge, Bernard Lerer, Miaoxin Li, Tao Li, Kung-Yee Liang, Jeffrey Lieberman, Svetlana Limborska, Carmel M. Loughland, Jan Lubinski, Jouko Lönnqvist, Milan Macek, Patrik K.E. Magnusson, Brion S. Maher, Wolfgang Maier, Jacques Mallet, Sara Marsal, Manuel Mattheisen, Morten Mattingsdal, Robert W. McCarley, Colm McDonald, Andrew M. McIntosh, Sandra Meier, Carin J. Meijer, Bela Melegh, Ingrid Melle, Raquelle I. Mesholam-Gately, Andres Metspalu, Patricia T. Michie, Lili Milani, Vihra Milanova, Younes Mokrab, Derek W. Morris, Ole Mors, Kieran C. Murphy, Robin M. Murray, Inez Myin-Germeys, Bertram Müller-Myhsok, Mari Nelis, Igor Nenadic, Deborah A. Nertney, Gerald Nestadt, Kristin K. Nicodemus, Liene Nikitina-Zake, Laura Nisenbaum, Annelie Nordin, Eadbhard O'Callaghan, Colm O'Dushlaine, F. Anthony O'Neill, Sang-Yun Oh, Ann Olincy, Line Olsen, Jim Van Os, Christos Pantelis, George N. Papadimitriou, Sergi Papiol, Elena Parkhomenko, Michele T. Pato, Tiina Paunio, Milica Pejovic-Milovancevic, Diana O. Perkins, Olli Pietiläinen, Jonathan Pimm, Andrew J. Pocklington, John Powell, Alkes Price, Ann E. Pulver, Shaun M. Purcell, Digby Quested, Henrik B. Rasmussen, Abraham Reichenberg, Mark A. Reimers, Alexander L. Richards, Joshua L. Roffman, Panos Roussos, Douglas M. Ruderfer, Veikko Salomaa, Alan R. Sanders, Ulrich Schall, Christian R. Schubert, Thomas G. Schulze, Sibylle G. Schwab, Edward M. Scolnick, Rodney J. Scott, Larry J. Seidman, Jianxin Shi, Engilbert Sigurdsson, Teimuraz Silagadze, Jeremy M. Silverman, Kang Sim, Petr Slominsky, Jordan W. Smoller, Hon-Cheong So, Chris C.A. Spencer, Eli A. Stahl, Hreinn Stefansson, Stacy Steinberg, Elisabeth Stogmann, Richard E. Straub, Eric Strengman, Jana Strohmaier, T Scott Stroup, Mythily Subramaniam, Jaana Suvisaari, Dragan M. Svrakic, Jin P. Szatkiewicz, Erik Söderman, Srinivas Thirumalai, Draga Toncheva, Sarah Tosato, Juha Veijola, John Waddington, Dermot Walsh, Dai Wang, Qiang Wang, Bradley T. Webb, Mark Weiser, Dieter B. Wildenauer, Nigel M. Williams, Stephanie Williams, Stephanie H. Witt, Aaron R. Wolen, Emily H.M. Wong, Brandon K. Wormley, Hualin Simon Xi, Clement C. Zai, Xuebin Zheng, Fritz Zimprich, Naomi R. Wray, Kari Stefansson, Peter M. Visscher, Rolf Adolfsson, Ole A. Andreassen, Douglas H.R. Blackwood, Elvira Bramon, Joseph D. Buxbaum, Anders D. Børglum, Sven Cichon, Ariel Darvasi, Enrico Domenici, Hannelore Ehrenreich, Tõnu Esko, Pablo V. Gejman, Michael Gill, Hugh Gurling, Christina M. Hultman, Nakao Iwata, Assen V. Jablensky, Erik G. Jönsson, Kenneth S. Kendler, George Kirov, Jo Knight, Todd Lencz, Douglas F. Levinson, Qingqin S. Li, Jianjun Liu, Anil K. Malhotra, Steven A. McCarroll, Andrew McQuillin, Jennifer L. Moran, Preben B. Mortensen, Bryan J. Mowry, Markus M. Nöthen, Roel A. Ophoff, Michael J. Owen, Aarno Palotie, Carlos N. Pato, Tracey L. Petryshen, Danielle Posthuma, Marcella Rietschel, Brien P. Riley, Dan Rujescu, Pak C. Sham, Pamela Sklar, David St Clair, Daniel R. Weinberger, Jens R. Wendland, Thomas Werge, Mark J. Daly, Patrick F. Sullivan, Michael C. O'Donovan, Shengying Qin, Akira Sawa, Rene Kahn, Kyung Sue Hong, Wenzhao Shi, Ming Tsuang, Masanari Itokawa, Gang Feng, Stephen J. Glatt, Xiancang Ma, Jinsong Tang, Yunfeng Ruan, Feng Zhu, Yasue Horiuchi, Byung Dae Lee, Eun-Jeong Joo, Woojae Myung, Kyooseob Ha, Hong-Hee Won, Ji Hyung Baek, Young Chul Chung, Sung-Wan Kim, Agung Kusumawardhani, Wei J. Chen, Hai-Gwo Hwu, Akitoyo Hishimoto, Ikuo Otsuka, Ichiro Sora, Tomoko Toyota, Takeo Yoshikawa, Hiroshi Kunugi, Kotaro Hattori, Sayuri Ishiwata, Shusuke Numata, Tetsuro Ohmori, Makoto Arai, Yuji Ozeki, Kumiko Fujii, Se Joo Kim, Heon-Jeong Lee, Yong Min Ahn, Se Hyun Kim, Kazufumi Akiyama, Kazutaka Shimoda, Makoto Kinoshita
Publikováno v:
iScience, Vol 26, Iss 5, Pp 106701- (2023)
Summary: Genetics have nominated many schizophrenia risk genes and identified convergent signals between schizophrenia and neurodevelopmental disorders. However, functional interpretation of the nominated genes in the relevant brain cell types is oft
Externí odkaz:
https://doaj.org/article/49cc77d8d4ee4572b1f6ef76532d303e
Autor:
Carolyn Nicole Brown, Sarah G. Cook, Hillary F. Allen, Kevin C. Crosby, Tarjinder Singh, Steven J. Coultrap, K. Ulrich Bayer
Publikováno v:
iScience, Vol 24, Iss 10, Pp 103184- (2021)
Summary: The Ca2+/Calmodulin-dependent protein kinase II (CaMKII) is a central regulator of synaptic plasticity and has been implicated in various neurological conditions, including schizophrenia. Here, we characterize six different CaMKIIα variants
Externí odkaz:
https://doaj.org/article/99bee0eeeb324359bf2282e2f6ae69cf
Autor:
Eugene J. Gardner, Elena Prigmore, Giuseppe Gallone, Petr Danecek, Kaitlin E. Samocha, Juliet Handsaker, Sebastian S. Gerety, Holly Ironfield, Patrick J. Short, Alejandro Sifrim, Tarjinder Singh, Kate E. Chandler, Emma Clement, Katherine L. Lachlan, Katrina Prescott, Elisabeth Rosser, David R. FitzPatrick, Helen V. Firth, Matthew E. Hurles
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)
Retrotransposition events have been linked to some human disorders. Here, Gardner et al. systematically search for mobile genetic elements (ME) in trio whole exome-sequencing datasets and ascertain 9 de novo MEs and further estimate genome-wide germl
Externí odkaz:
https://doaj.org/article/aa83ff40241c4c9a9ff87879eb6387cd
Autor:
Siana Nkya Mtatiro, Tarjinder Singh, Helen Rooks, Josephine Mgaya, Harvest Mariki, Deogratius Soka, Bruno Mmbando, Evarist Msaki, Iris Kolder, Swee Lay Thein, Stephan Menzel, Sharon E Cox, Julie Makani, Jeffrey C Barrett
Publikováno v:
PLoS ONE, Vol 9, Iss 11, p e111464 (2014)
Fetal hemoglobin (HbF) is an important modulator of sickle cell disease (SCD). HbF has previously been shown to be affected by variants at three loci on chromosomes 2, 6 and 11, but it is likely that additional loci remain to be discovered.We conduct
Externí odkaz:
https://doaj.org/article/36304838133a4c1aa3a02d07da489ce3
Publikováno v:
Applications in Plant Sciences, Vol 2, Iss 1, p 1300064 (2014)
Premise of the study: We developed 10 novel microsatellite loci for Sagina nodosa, a diploid perennial arctic-alpine herb. To our knowledge, these are the first microsatellite loci for a Sagina species. Methods and Results: We performed a low-covera
Externí odkaz:
https://doaj.org/article/f2c7b7b99d2040319b11effa7f0eca39
Publikováno v:
Schizophrenia Research. 250:100-103
The Schizophrenia Exome Meta-Analysis (SCHEMA) consortium identified 10 genes in which loss-of-function (LoF) variants are highly associated with schizophrenia (SZ). In a well-characterized sample of 988 patients with psychotic disorders, we investig
Autor:
Borislav Dejanovic, Tiffany Wu, Ming-Chi Tsai, David Graykowski, Vineela D. Gandham, Christopher M. Rose, Corey E. Bakalarski, Hai Ngu, Yuanyuan Wang, Shristi Pandey, Mitchell G. Rezzonico, Brad A. Friedman, Rose Edmonds, Ann De Mazière, Raphael Rakosi-Schmidt, Tarjinder Singh, Judith Klumperman, Oded Foreman, Michael C. Chang, Luke Xie, Morgan Sheng, Jesse E. Hanson
Publikováno v:
Nature Aging. 2:837-850
Microglia and complement can mediate neurodegeneration in Alzheimer’s disease (AD). By integrative multi-omics analysis, here we show that astrocytic and microglial proteins are increased in TauP301S synapse fractions with age and in a C1q-dependen
Autor:
Duncan S. Palmer, Daniel P. Howrigan, Sinéad B. Chapman, Rolf Adolfsson, Nick Bass, Douglas Blackwood, Marco P. M. Boks, Chia-Yen Chen, Claire Churchhouse, Aiden P. Corvin, Nicholas Craddock, David Curtis, Arianna Di Florio, Faith Dickerson, Nelson B. Freimer, Fernando S. Goes, Xiaoming Jia, Ian Jones, Lisa Jones, Lina Jonsson, Rene S. Kahn, Mikael Landén, Adam E. Locke, Andrew M. McIntosh, Andrew McQuillin, Derek W. Morris, Michael C. O’Donovan, Roel A. Ophoff, Michael J. Owen, Nancy L. Pedersen, Danielle Posthuma, Andreas Reif, Neil Risch, Catherine Schaefer, Laura Scott, Tarjinder Singh, Jordan W. Smoller, Matthew Solomonson, David St. Clair, Eli A. Stahl, Annabel Vreeker, James T. R. Walters, Weiqing Wang, Nicholas A. Watts, Robert Yolken, Peter P. Zandi, Benjamin M. Neale
Publikováno v:
Nature genetics, 54(5), 541-547. Nature Publishing Group
Nature genetics, vol 54, iss 5
Nature Genetics, 54(5), 541-547. Nature Publishing Group
Palmer, D S, Howrigan, D P, Chapman, S B, Adolfsson, R, Bass, N, Blackwood, D, Boks, M P M, Chen, C-Y, Churchhouse, C, Corvin, A P, Craddock, N, Curtis, D, di Florio, A, Dickerson, F, Freimer, N B, Goes, F S, Jia, X, Jones, I, Jones, L, Jonsson, L, Kahn, R S, Landén, M, Locke, A E, McIntosh, A M, McQuillin, A, Morris, D W, O’Donovan, M C, Ophoff, R A, Owen, M J, Pedersen, N L, Posthuma, D, Reif, A, Risch, N, Schaefer, C, Scott, L, Singh, T, Smoller, J W, Solomonson, M, Clair, D S, Stahl, E A, Vreeker, A, Walters, J T R, Wang, W, Watts, N A, Yolken, R, Zandi, P P & Neale, B M 2022, ' Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia ', Nature Genetics, vol. 54, no. 5, pp. 541-547 . https://doi.org/10.1038/s41588-022-01034-x
Nat Genet
Palmer, D S, Howrigan, D P, Chapman, S B, Adolfsson, R, Bass, N, Blackwood, D, Boks, M P M, Chen, C Y, Churchhouse, C, Corvin, A P, Craddock, N, Curtis, D, Di Florio, A, Dickerson, F, Freimer, N B, Goes, F S, Jia, X, Jones, I, Jones, L, Jonsson, L, Kahn, R S, Landén, M, Locke, A E, McIntosh, A M, McQuillin, A, Morris, D W, O’Donovan, M C, Ophoff, R A, Owen, M J, Pedersen, N L, Posthuma, D, Reif, A, Risch, N, Schaefer, C, Scott, L, Singh, T, Smoller, J W, Solomonson, M, Clair, D S, Stahl, E A, Vreeker, A, Walters, J T R, Wang, W, Watts, N A, Yolken, R, Zandi, P P & Neale, B M 2022, ' Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia ', Nature genetics, vol. 54, no. 5, pp. 541-547 . https://doi.org/10.1038/s41588-022-01034-x
Nature genetics, vol 54, iss 5
Nature Genetics, 54(5), 541-547. Nature Publishing Group
Palmer, D S, Howrigan, D P, Chapman, S B, Adolfsson, R, Bass, N, Blackwood, D, Boks, M P M, Chen, C-Y, Churchhouse, C, Corvin, A P, Craddock, N, Curtis, D, di Florio, A, Dickerson, F, Freimer, N B, Goes, F S, Jia, X, Jones, I, Jones, L, Jonsson, L, Kahn, R S, Landén, M, Locke, A E, McIntosh, A M, McQuillin, A, Morris, D W, O’Donovan, M C, Ophoff, R A, Owen, M J, Pedersen, N L, Posthuma, D, Reif, A, Risch, N, Schaefer, C, Scott, L, Singh, T, Smoller, J W, Solomonson, M, Clair, D S, Stahl, E A, Vreeker, A, Walters, J T R, Wang, W, Watts, N A, Yolken, R, Zandi, P P & Neale, B M 2022, ' Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia ', Nature Genetics, vol. 54, no. 5, pp. 541-547 . https://doi.org/10.1038/s41588-022-01034-x
Nat Genet
Palmer, D S, Howrigan, D P, Chapman, S B, Adolfsson, R, Bass, N, Blackwood, D, Boks, M P M, Chen, C Y, Churchhouse, C, Corvin, A P, Craddock, N, Curtis, D, Di Florio, A, Dickerson, F, Freimer, N B, Goes, F S, Jia, X, Jones, I, Jones, L, Jonsson, L, Kahn, R S, Landén, M, Locke, A E, McIntosh, A M, McQuillin, A, Morris, D W, O’Donovan, M C, Ophoff, R A, Owen, M J, Pedersen, N L, Posthuma, D, Reif, A, Risch, N, Schaefer, C, Scott, L, Singh, T, Smoller, J W, Solomonson, M, Clair, D S, Stahl, E A, Vreeker, A, Walters, J T R, Wang, W, Watts, N A, Yolken, R, Zandi, P P & Neale, B M 2022, ' Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia ', Nature genetics, vol. 54, no. 5, pp. 541-547 . https://doi.org/10.1038/s41588-022-01034-x
We report results from the Bipolar Exome (BipEx) collaboration analysis of whole-exome sequencing of 13,933 patients with bipolar disorder (BD) matched with 14,422 controls. We find an excess of ultra-rare protein-truncating variants (PTVs) in patien