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Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy
Pacheu-Grau, David, Callegari, Sylvie, Emperador, Sonia, Thompson, Kyle, Aich, Abhishek, Topol, Sarah E, Spencer, Emily G, McFarland, Robert, Ruiz-Pesini, Eduardo, Torkamani, Ali, Taylor, Robert W, Montoya, Julio, Rehling, Peter
Published in Human molecular genetics (01.12.2018)
Published in Human molecular genetics (01.12.2018)
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Journal Article
Fatty Acid Metabolites Combine with Reduced β Oxidation to Activate Th17 Inflammation in Human Type 2 Diabetes
Nicholas, Dequina A., Proctor, Elizabeth A., Agrawal, Madhur, Belkina, Anna C., Van Nostrand, Stephen C., Panneerseelan-Bharath, Leena, Jones, Albert R., Raval, Forum, Ip, Blanche C., Zhu, Min, Cacicedo, Jose M., Habib, Chloe, Sainz-Rueda, Nestor, Persky, Leah, Sullivan, Patrick G., Corkey, Barbara E., Apovian, Caroline M., Kern, Philip A., Lauffenburger, Douglas A., Nikolajczyk, Barbara S.
Published in Cell metabolism (03.09.2019)
Published in Cell metabolism (03.09.2019)
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Journal Article
Meta-analysis of 65,734 Individuals Identifies TSPAN15 and SLC44A2 as Two Susceptibility Loci for Venous Thromboembolism
Germain, Marine, Chasman, Daniel I., de Haan, Hugoline, Tang, Weihong, Lindström, Sara, Weng, Lu-Chen, de Andrade, Mariza, de Visser, Marieke C.H., Wiggins, Kerri L., Suchon, Pierre, Saut, Noémie, Smadja, David M., Le Gal, Grégoire, van Hylckama Vlieg, Astrid, Di Narzo, Antonio, Hao, Ke, Nelson, Christopher P., Rocanin-Arjo, Ares, Folkersen, Lasse, Monajemi, Ramin, Rose, Lynda M., Brody, Jennifer A., Slagboom, Eline, Aïssi, Dylan, Gagnon, France, Deleuze, Jean-Francois, Deloukas, Panos, Tzourio, Christophe, Dartigues, Jean-Francois, Berr, Claudine, Taylor, Kent D., Civelek, Mete, Eriksson, Per, Psaty, Bruce M., Houwing-Duitermaat, Jeanine, Goodall, Alison H., Cambien, François, Kraft, Peter, Amouyel, Philippe, Samani, Nilesh J., Basu, Saonli, Ridker, Paul M., Rosendaal, Frits R., Kabrhel, Christopher, Folsom, Aaron R., Heit, John, Reitsma, Pieter H., Trégouët, David-Alexandre, Smith, Nicholas L., Morange, Pierre-Emmanuel
Published in American journal of human genetics (02.04.2015)
Published in American journal of human genetics (02.04.2015)
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Journal Article
Collaborative meta-analysis finds no evidence of a strong interaction between stress and 5-HTTLPR genotype contributing to the development of depression
Culverhouse, R C, Saccone, N L, Horton, A C, Ma, Y, Anstey, K J, Banaschewski, T, Burmeister, M, Cohen-Woods, S, Etain, B, Fisher, H L, Goldman, N, Guillaume, S, Horwood, J, Juhasz, G, Lester, K J, Mandelli, L, Middeldorp, C M, Olié, E, Villafuerte, S, Air, T M, Araya, R, Bowes, L, Burns, R, Byrne, E M, Coffey, C, Coventry, W L, Gawronski, K A B, Glei, D, Hatzimanolis, A, Hottenga, J-J, Jaussent, I, Jawahar, C, Jennen-Steinmetz, C, Kramer, J R, Lajnef, M, Little, K, zu Schwabedissen, H M, Nauck, M, Nederhof, E, Petschner, P, Peyrot, W J, Schwahn, C, Sinnamon, G, Stacey, D, Tian, Y, Toben, C, Van der Auwera, S, Wainwright, N, Wang, J-C, Willemsen, G, Anderson, I M, Arolt, V, Åslund, C, Bagdy, G, Baune, B T, Bellivier, F, Boomsma, D I, Courtet, P, Dannlowski, U, de Geus, E J C, Deakin, J F W, Easteal, S, Eley, T, Fergusson, D M, Goate, A M, Gonda, X, Grabe, H J, Holzman, C, Johnson, E O, Kennedy, M, Laucht, M, Martin, N G, Munafò, M R, Nilsson, K W, Oldehinkel, A J, Olsson, C A, Ormel, J, Otte, C, Patton, G C, Penninx, B W J H, Ritchie, K, Sarchiapone, M, Scheid, J M, Serretti, A, Smit, J H, Stefanis, N C, Surtees, P G, Völzke, H, Weinstein, M, Whooley, M, Nurnberger Jr, J I, Breslau, N, Bierut, L J
Published in Molecular psychiatry (01.01.2018)
Published in Molecular psychiatry (01.01.2018)
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Journal Article
Bacterial multidrug efflux pumps: Mechanisms, physiology and pharmacological exploitations
Sun, Jingjing, Deng, Ziqing, Yan, Aixin
Published in Biochemical and biophysical research communications (17.10.2014)
Published in Biochemical and biophysical research communications (17.10.2014)
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Journal Article
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension
Gräf, Stefan, Haimel, Matthias, Bleda, Marta, Hadinnapola, Charaka, Southgate, Laura, Li, Wei, Hodgson, Joshua, Liu, Bin, Salmon, Richard M., Southwood, Mark, Machado, Rajiv D., Martin, Jennifer M., Treacy, Carmen M., Yates, Katherine, Daugherty, Louise C., Shamardina, Olga, Whitehorn, Deborah, Holden, Simon, Aldred, Micheala, Bogaard, Harm J., Church, Colin, Coghlan, Gerry, Condliffe, Robin, Corris, Paul A., Danesino, Cesare, Eyries, Mélanie, Gall, Henning, Ghio, Stefano, Ghofrani, Hossein-Ardeschir, Gibbs, J. Simon R., Girerd, Barbara, Houweling, Arjan C., Howard, Luke, Humbert, Marc, Kiely, David G., Kovacs, Gabor, MacKenzie Ross, Robert V., Moledina, Shahin, Montani, David, Newnham, Michael, Olschewski, Andrea, Olschewski, Horst, Peacock, Andrew J., Pepke-Zaba, Joanna, Prokopenko, Inga, Rhodes, Christopher J., Scelsi, Laura, Seeger, Werner, Soubrier, Florent, Stein, Dan F., Suntharalingam, Jay, Swietlik, Emilia M., Toshner, Mark R., van Heel, David A., Vonk Noordegraaf, Anton, Waisfisz, Quinten, Wharton, John, Wort, Stephen J., Ouwehand, Willem H., Soranzo, Nicole, Lawrie, Allan, Upton, Paul D., Wilkins, Martin R., Trembath, Richard C., Morrell, Nicholas W.
Published in Nature communications (12.04.2018)
Published in Nature communications (12.04.2018)
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Journal Article
Transcriptional Burst Initiation and Polymerase Pause Release Are Key Control Points of Transcriptional Regulation
Bartman, Caroline R., Hamagami, Nicole, Keller, Cheryl A., Giardine, Belinda, Hardison, Ross C., Blobel, Gerd A., Raj, Arjun
Published in Molecular cell (07.02.2019)
Published in Molecular cell (07.02.2019)
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Journal Article
Structural variation detection and association analysis of whole‐genome‐sequence data from 16,543 Alzheimer's disease sequencing project subjects
Wang, Hui, Dombroski, Beth A., Cheng, Po‐Liang, Tucci, Albert, Si, Ya‐Qin, Farrell, John J., Tzeng, Jung‐Ying, Leung, Yuk Yee, Malamon, John S., Wang, Li‐San, Vardarajan, Badri N., Farrer, Lindsay A., Schellenberg, Gerard D., Lee, Wan‐Ping
Published in Alzheimer's & dementia (01.06.2025)
Published in Alzheimer's & dementia (01.06.2025)
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Journal Article
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture
Estrada, Karol, Styrkarsdottir, Unnur, Evangelou, Evangelos, Hsu, Yi-Hsiang, Ntzani, Evangelia E, Albagha, Omar M E, Koller, Daniel L, Minster, Ryan L, Moayyeri, Alireza, Vandenput, Liesbeth, Willner, Dana, Xiao, Su-Mei, Zheng, Hou-Feng, Alonso, Nerea, Kammerer, Candace M, Kaptoge, Stephen K, Leo, Paul J, Wilson, James F, Alen, Markku, Aspelund, Thor, Center, Jacqueline R, Dailiana, Zoe, Duggan, David J, Garcia, Melissa, Husted, Lise Bjerre, Jameson, Karen A, Kim, Ghi Su, Kooperberg, Charles, Kruk, Marcin, Laaksonen, Marika, Leung, Ping C, Lewis, Joshua R, Nogues, Xavier, Prezelj, Janez, Scollen, Serena, Svensson, Olle, Trompet, Stella, Woo, Jean, Zhu, Kun, Cheng, Sulin, Dedoussis, George, Frost, Morten, Goltzman, David, Kähönen, Mika, Karlsson, Magnus, Langdahl, Bente Lomholt, Lips, Paul, Lorenc, Roman S, Mellström, Dan, Olmos, José M, Pettersson-Kymmer, Ulrika, Riancho, José A, Ridker, Paul M, Rousseau, François, lagboom, P Eline S, Urreizti, Roser, Zarrabeitia, María T, Castano-Betancourt, Martha, Kwan, Tony, Li, Rui, Luben, Robert, Medina-Gómez, Carolina, Th Palsson, Stefan, Rotter, Jerome I, Sigurdsson, Gunnar, van Meurs, Joyce B J, Williams, Frances M K, Zhou, Yanhua, Pastinen, Tomi, Cauley, Jane A, Chasman, Daniel I, Clark, Graeme R, Cummings, Steven R, Eastell, Richard, Eisman, John A, Hofman, Albert, Jukema, J Wouter, Khaw, Kay-Tee, Lehtimäki, Terho, Liu, Yongmei, Oostra, Ben A, Pols, Huibert A P, Reid, Ian R, Robbins, John, Sambrook, Philip N, Sham, Pak Chung, Shuldiner, Alan R, van Duijn, Cornelia M, Wareham, Nick J, Econs, Michael J, Harris, Tamara B, Kung, Annie Wai Chee, Streeten, Elizabeth A, Thorsteinsdottir, Unnur, Karasik, David, Richards, J Brent, Brown, Matthew A, Ralston, Stuart H, Ioannidis, John P A, Kiel, Douglas P
Published in Nature genetics (01.05.2012)
Published in Nature genetics (01.05.2012)
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Journal Article
Regulation of the AcrAB-TolC efflux pump in Enterobacteriaceae
Weston, Natasha, Sharma, Prateek, Ricci, Vito, Piddock, Laura J.V.
Published in Research in microbiology (01.09.2018)
Published in Research in microbiology (01.09.2018)
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Journal Article
Protein Abundance of Clinically Relevant Multidrug Transporters along the Entire Length of the Human Intestine
Drozdzik, Marek, Gröer, Christian, Penski, Jette, Lapczuk, Joanna, Ostrowski, Marek, Lai, Yurong, Prasad, Bhagwat, Unadkat, Jashvant D, Siegmund, Werner, Oswald, Stefan
Published in Molecular pharmaceutics (06.10.2014)
Published in Molecular pharmaceutics (06.10.2014)
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Journal Article
Pharmacokinetic-Pharmacodynamic interaction associated with venlafaxine-XR remission in patients with major depressive disorder with history of citalopram / escitalopram treatment failure
Ahmed, Ahmed T, Biernacka, Joanna M, Jenkins, Gregory, Rush, A John, Shinozaki, Gen, Veldic, Marin, Kung, Simon, Bobo, William V, Hall-Flavin, Daniel K, Weinshilboum, Richard M, Wang, Liewei, Frye, Mark A
Published in Journal of affective disorders (01.03.2019)
Published in Journal of affective disorders (01.03.2019)
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Journal Article
De Novo Mutations in YWHAG Cause Early-Onset Epilepsy
Guella, Ilaria, McKenzie, Marna B., Evans, Daniel M., Buerki, Sarah E., Toyota, Eric B., Van Allen, Margot I., Adam, Shelin, Boelman, Cyrus, Bolbocean, Corneliu, Candido, Tara, Eydoux, Patrice, Horvath, Gabriella, Huh, Linda, Nelson, Tanya N., Sinclair, Graham, van Karnebeek, Clara, Vercauteren, Suzanne, Suri, Mohnish, Elmslie, Frances, Simon, Marleen E.H., van Gassen, Koen L.I., Héron, Delphine, Keren, Boris, Nava, Caroline, Connolly, Mary B., Demos, Michelle, Farrer, Matthew J.
Published in American journal of human genetics (03.08.2017)
Published in American journal of human genetics (03.08.2017)
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Journal Article
HLA tapasin independence: broader peptide repertoire and HIV control
Bashirova, Arman A., Viard, Mathias, Naranbhai, Vivek, Grifoni, Alba, Garcia-Beltran, Wilfredo, Akdag, Marjan, Yuki, Yuko, Gao, Xiaojiang, O’hUigin, Colm, Raghavan, Malini, Wolinsky, Steven, Bream, Jay H., Duggal, Priya, Martinson, Jeremy, Michael, Nelson L., Kirk, Gregory D., Buchbinder, Susan P., Haas, David, Goedert, James J., Deeks, Steven G., Fellay, Jacques, Walker, Bruce, Goulder, Philip, Cresswell, Peter, Elliott, Tim, Sette, Alessandro, Carlson, Jonathan, Carrington, Mary
Published in Proceedings of the National Academy of Sciences - PNAS (10.11.2020)
Published in Proceedings of the National Academy of Sciences - PNAS (10.11.2020)
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Journal Article
The neutrophil antigen 3a/b polymorphism in SLC44A2 unexpectedly encodes the Csa/Csb red cell antigens
Duval, Romain, Soudry, Alissa, De Oliveira Rios, Jonathan, Linguet, Sarah Liane, Taillepierre, Miguel, Matesic, Graziella, Raneri, Alexandre, Laiguillon, Guy, Le Toriellec, Emilie, Gautier, Emilie-Fleur, Vainqueur, Damien, Babinet, Jérôme, Masson, Cécile, Gelly, Jean Christophe, Le Van Kim, Caroline, Romana, Marc, Chen, Dawei, Santoso, Sentot, Koehl, Berengere, Peyrard, Thierry, Azouzi, Slim
Published in Blood (10.07.2025)
Published in Blood (10.07.2025)
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Journal Article
MicroRNA-138 and MicroRNA-25 Down-regulate Mitochondrial Calcium Uniporter, Causing the Pulmonary Arterial Hypertension Cancer Phenotype
Hong, Zhigang, Chen, Kuang-Hueih, DasGupta, Asish, Potus, Francois, Dunham-Snary, Kimberly, Bonnet, Sebastien, Tian, Lian, Fu, Jennifer, Breuils-Bonnet, Sandra, Provencher, Steeve, Wu, Danchen, Mewburn, Jeffrey, Ormiston, Mark L., Archer, Stephen L.
Published in American journal of respiratory and critical care medicine (15.02.2017)
Published in American journal of respiratory and critical care medicine (15.02.2017)
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Journal Article
Defining the phenotypic spectrum of SLC6A1 mutations
Johannesen, Katrine M., Gardella, Elena, Linnankivi, Tarja, Courage, Carolina, Saint Martin, Anne, Lehesjoki, Anna‐Elina, Mignot, Cyril, Afenjar, Alexandra, Lesca, Gaetan, Abi‐Warde, Marie‐Thérèse, Chelly, Jamel, Piton, Amélie, Merritt, J. Lawrence, Rodan, Lance H., Tan, Wen‐Hann, Bird, Lynne M., Nespeca, Mark, Gleeson, Joseph G., Yoo, Yongjin, Choi, Murim, Chae, Jong‐Hee, Czapansky‐Beilman, Desiree, Reichert, Sara Chadwick, Pendziwiat, Manuela, Verhoeven, Judith S., Schelhaas, Helenius J., Devinsky, Orrin, Christensen, Jakob, Specchio, Nicola, Trivisano, Marina, Weber, Yvonne G., Nava, Caroline, Keren, Boris, Doummar, Diane, Schaefer, Elise, Hopkins, Sarah, Dubbs, Holly, Shaw, Jessica E., Pisani, Laura, Myers, Candace T., Tang, Sha, Tang, Shan, Pal, Deb K., Millichap, John J., Carvill, Gemma L., Helbig, Kathrine L., Mecarelli, Oriano, Striano, Pasquale, Helbig, Ingo, Rubboli, Guido, Mefford, Heather C., Møller, Rikke S.
Published in Epilepsia (Copenhagen) (01.02.2018)
Published in Epilepsia (Copenhagen) (01.02.2018)
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Journal Article
Human Laboratory Studies on Cannabinoids and Psychosis
Sherif, Mohamed, Radhakrishnan, Rajiv, D’Souza, Deepak Cyril, Ranganathan, Mohini
Published in Biological psychiatry (1969) (01.04.2016)
Published in Biological psychiatry (1969) (01.04.2016)
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