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New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies
Legati, Andrea, Reyes, Aurelio, Nasca, Alessia, Invernizzi, Federica, Lamantea, Eleonora, Tiranti, Valeria, Garavaglia, Barbara, Lamperti, Costanza, Ardissone, Anna, Moroni, Isabella, Robinson, Alan, Ghezzi, Daniele, Zeviani, Massimo
Published in Biochimica et biophysica acta (01.08.2016)
Published in Biochimica et biophysica acta (01.08.2016)
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O-GlcNAc protein modification in plants: Evolution and function
Olszewski, Neil E., West, Christopher M., Sassi, Slim O., Hartweck, Lynn M.
Published in Biochimica et biophysica acta (01.02.2010)
Published in Biochimica et biophysica acta (01.02.2010)
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Structure‐based prediction of the IgE epitopes of the major dog allergen Can f 1
Nakatsuji, Masatoshi, Sugiura, Keisuke, Suda, Keisuke, Sakurai, Michiko, Ubatani, Miki, Muroya, Haruka, Okubo, Rina, Noguchi, Ryo, Kamata, Yoichi, Fukutomi, Yuma, Ishibashi, Osamu, Nishimura, Shigenori, Inui, Takashi
Published in The FEBS Journal (01.03.2022)
Published in The FEBS Journal (01.03.2022)
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FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases
Paul, Antoine, Drecourt, Anthony, Petit, Floriane, Deguine, Delphine Dupin, Vasnier, Christelle, Oufadem, Myriam, Masson, Cécile, Bonnet, Crystel, Masmoudi, Saber, Mosnier, Isabelle, Mahieu, Laurence, Bouccara, Didier, Kaplan, Josseline, Challe, Georges, Domange, Christelle, Mochel, Fanny, Sterkers, Olivier, Gerber, Sylvie, Nitschke, Patrick, Bole-Feysot, Christine, Jonard, Laurence, Gherbi, Souad, Mercati, Oriane, Ben Aissa, Ines, Lyonnet, Stanislas, Rötig, Agnès, Delahodde, Agnès, Marlin, Sandrine
Published in American journal of human genetics (05.10.2017)
Published in American journal of human genetics (05.10.2017)
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Global biogeography of SAR11 marine bacteria
Brown, Mark V, Lauro, Federico M, DeMaere, Matthew Z, Muir, Les, Wilkins, David, Thomas, Torsten, Riddle, Martin J, Fuhrman, Jed A, Andrews‐Pfannkoch, Cynthia, Hoffman, Jeffrey M, McQuaid, Jeffrey B, Allen, Andrew, Rintoul, Stephen R, Cavicchioli, Ricardo
Published in Molecular systems biology (17.07.2012)
Published in Molecular systems biology (17.07.2012)
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Comparison of Viral Env Proteins from Acute and Chronic Infections with Subtype C Human Immunodeficiency Virus Type 1 Identifies Differences in Glycosylation and CCR5 Utilization and Suggests a New Strategy for Immunogen Design
Ping, Li-Hua, Joseph, Sarah B., Anderson, Jeffrey A., Abrahams, Melissa-Rose, Salazar-Gonzalez, Jesus F., Kincer, Laura P., Treurnicht, Florette K., Arney, Leslie, Ojeda, Suany, Zhang, Ming, Keys, Jessica, Potter, E. Lake, Chu, Haitao, Moore, Penny, Salazar, Maria G., Iyer, Shilpa, Jabara, Cassandra, Kirchherr, Jennifer, Mapanje, Clement, Ngandu, Nobubelo, Seoighe, Cathal, Hoffman, Irving, Gao, Feng, Tang, Yuyang, Labranche, Celia, Lee, Benhur, Saville, Andrew, Vermeulen, Marion, Fiscus, Susan, Morris, Lynn, Karim, Salim Abdool, Haynes, Barton F., Shaw, George M., Korber, Bette T., Hahn, Beatrice H., Cohen, Myron S., Montefiori, David, Williamson, Carolyn, Swanstrom, Ronald
Published in Journal of Virology (01.07.2013)
Published in Journal of Virology (01.07.2013)
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Early-onset inflammatory bowel disease and common variable immunodeficiency–like disease caused by IL-21 deficiency
Salzer, Elisabeth, Kansu, Aydan, Sic, Heiko, Májek, Peter, Ikincioğullari, Aydan, Dogu, Figen E., Prengemann, Nina Kathrin, Santos-Valente, Elisangela, Pickl, Winfried F., Bilic, Ivan, Ban, Sol A, Kuloğlu, Zarife, Demir, Arzu Meltem, Ensari, Arzu, Colinge, Jacques, Rizzi, Marta, Eibel, Hermann, Boztug, Kaan
Published in Journal of allergy and clinical immunology (01.06.2014)
Published in Journal of allergy and clinical immunology (01.06.2014)
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Indel Reliability in Indel-Based Phylogenetic Inference
Ashkenazy, Haim, Cohen, Ofir, Pupko, Tal, Huchon, Dorothée
Published in Genome biology and evolution (01.12.2014)
Published in Genome biology and evolution (01.12.2014)
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Genetic and phylogenetic analysis of canine bufavirus from Anhui Province, Eastern China
Wang, Yong, Guo, Xu, Zhang, Da, Sun, Jianfei, Li, Wei, Fu, Ziteng, Liu, Guangqing, Li, Yongdong, Jiang, Shudong
Published in Infection, genetics and evolution (01.12.2020)
Published in Infection, genetics and evolution (01.12.2020)
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Structural and functional consequences of NEDD8 phosphorylation
Stuber, Katrin, Schneider, Tobias, Werner, Jill, Kovermann, Michael, Marx, Andreas, Scheffner, Martin
Published in Nature communications (12.10.2021)
Published in Nature communications (12.10.2021)
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Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12
Landouré, Guida, Zhu, Peng-Peng, Lourenço, Charles M., Johnson, Janel O., Toro, Camilo, Bricceno, Katherine V., Rinaldi, Carlo, Meilleur, Katherine G., Sangaré, Modibo, Diallo, Oumarou, Pierson, Tyler M., Ishiura, Hiroyuki, Tsuji, Shoji, Hein, Nichole, Fink, John K., Stoll, Marion, Nicholson, Garth, Gonzalez, Michael A., Speziani, Fiorella, Dürr, Alexandra, Stevanin, Giovanni, Biesecker, Leslie G., Accardi, John, Landis, Dennis M. D., Gahl, William A., Traynor, Bryan J., Marques Jr, Wilson, Züchner, Stephan, Blackstone, Craig, Fischbeck, Kenneth H., Burnett, Barrington G.
Published in Human mutation (01.10.2013)
Published in Human mutation (01.10.2013)
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Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance
Kaiser, Frank J., Ansari, Morad, Braunholz, Diana, Concepción Gil-Rodríguez, María, Decroos, Christophe, Wilde, Jonathan J., Fincher, Christopher T., Kaur, Maninder, Bando, Masashige, Amor, David J., Atwal, Paldeep S., Bahlo, Melanie, Bowman, Christine M., Bradley, Jacquelyn J., Brunner, Han G., Clark, Dinah, Del Campo, Miguel, Di Donato, Nataliya, Diakumis, Peter, Dubbs, Holly, Dyment, David A., Eckhold, Juliane, Ernst, Sarah, Ferreira, Jose C., Francey, Lauren J., Gehlken, Ulrike, Guillén-Navarro, Encarna, Gyftodimou, Yolanda, Hall, Bryan D., Hennekam, Raoul, Hudgins, Louanne, Hullings, Melanie, Hunter, Jennifer M., Yntema, Helger, Innes, A. Micheil, Kline, Antonie D., Krumina, Zita, Lee, Hane, Leppig, Kathleen, Lynch, Sally Ann, Mallozzi, Mark B., Mannini, Linda, Mckee, Shane, Mehta, Sarju G., Micule, Ieva, Mohammed, Shehla, Moran, Ellen, Mortier, Geert R., Moser, Joe-Ann S., Noon, Sarah E., Nozaki, Naohito, Nunes, Luis, Pappas, John G., Penney, Lynette S., Pérez-Aytés, Antonio, Petersen, Michael B., Puisac, Beatriz, Revencu, Nicole, Roeder, Elizabeth, Saitta, Sulagna, Scheuerle, Angela E., Schindeler, Karen L., Siu, Victoria M., Stark, Zornitza, Strom, Samuel P., Thiese, Heidi, Vater, Inga, Willems, Patrick, Williamson, Kathleen, Wilson, Louise C., Hakonarson, Hakon, Quintero-Rivera, Fabiola, Wierzba, Jolanta, Musio, Antonio, Gillessen-Kaesbach, Gabriele, Ramos, Feliciano J., Jackson, Laird G., Shirahige, Katsuhiko, Pié, Juan, Christianson, David W., Krantz, Ian D., Fitzpatrick, David R., Deardorff, Matthew A.
Published in Human molecular genetics (01.06.2014)
Published in Human molecular genetics (01.06.2014)
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