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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
PRICKLE3 linked to ATPase biogenesis manifested Leber’s hereditary optic neuropathy
Yu, Jialing, Liang, Xiaoyang, Ji, Yanchun, Ai, Cheng, Liu, Junxia, Zhu, Ling, Nie, Zhipeng, Jin, Xiaofen, Wang, Chenghui, Zhang, Juanjuan, Zhao, Fuxin, Mei, Shuang, Zhao, Xiaoxu, Zhou, Xiangtian, Zhang, Minglian, Wang, Meng, Huang, Taosheng, Jiang, Pingping, Guan, Min-Xin
Published in The Journal of clinical investigation (01.09.2020)
Published in The Journal of clinical investigation (01.09.2020)
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Journal Article
Not-So-Rare Defects of RBC Lipidic Composition: Four New Cases of Flippase Deficiency Due to ATP11C Mutations
Fermo, Elisa, Trombetta, Elena, Marcello, Anna Paola, Vercellati, Cristina, Ferrari, Giulia Maria, Zaninoni, Anna, Brancaleoni, Valentina, Di Pierro, Elena, Beneventi, Sara, Tornese, Marta, Fattizzo, Bruno, Casini, Tommaso, Corti, Paola, Bianchi, Paola
Published in International journal of molecular sciences (10.08.2025)
Published in International journal of molecular sciences (10.08.2025)
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Journal Article
Reconfiguration of the proteasome during chaperone-mediated assembly
Park, Soyeon, Li, Xueming, Kim, Ho Min, Singh, Chingakham Ranjit, Tian, Geng, Hoyt, Martin A., Lovell, Scott, Battaile, Kevin P., Zolkiewski, Michal, Coffino, Philip, Roelofs, Jeroen, Cheng, Yifan, Finley, Daniel
Published in Nature (London) (23.05.2013)
Published in Nature (London) (23.05.2013)
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Journal Article
Biomarkers of mitochondrial content in skeletal muscle of healthy young human subjects
Larsen, Steen, Nielsen, Joachim, Hansen, Christina Neigaard, Nielsen, Lars Bo, Wibrand, Flemming, Stride, Nis, Schroder, Henrik Daa, Boushel, Robert, Helge, Jørn Wulff, Dela, Flemming, Hey‐Mogensen, Martin
Published in The Journal of physiology (01.07.2012)
Published in The Journal of physiology (01.07.2012)
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Journal Article
Role of Cdc48/p97 as a SUMO-targeted segregase curbing Rad51–Rad52 interaction
Bergink, Steven, Ammon, Tim, Kern, Maximilian, Schermelleh, Lothar, Leonhardt, Heinrich, Jentsch, Stefan
Published in Nature cell biology (01.05.2013)
Published in Nature cell biology (01.05.2013)
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Journal Article
Functional characterization of the ATPase-like activity displayed by a catalytic amyloid
Castillo-Caceres, Claudio, Duran-Meza, Eva, Nova, Esteban, Araya-Secchi, Raul, Monasterio, Octavio, Diaz-Espinoza, Rodrigo
Published in Biochimica et biophysica acta. General subjects (01.01.2021)
Published in Biochimica et biophysica acta. General subjects (01.01.2021)
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Journal Article
N-Terminal Phosphorylation of p60 Katanin Directly Regulates Microtubule Severing
Whitehead, Evan, Heald, Rebecca, Wilbur, Jeremy D.
Published in Journal of molecular biology (23.01.2013)
Published in Journal of molecular biology (23.01.2013)
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Journal Article
RNF213 Rare Variants in Slovakian and Czech Moyamoya Disease Patients
Kobayashi, Hatasu, Brozman, Miroslav, Kyselová, Kateřina, Viszlayová, Daša, Morimoto, Takaaki, Roubec, Martin, Školoudík, David, Petrovičová, Andrea, Juskanič, Dominik, Strauss, Jozef, Halaj, Marián, Kurray, Peter, Hranai, Marián, Harada, Kouji H., Inoue, Sumiko, Yoshida, Yukako, Habu, Toshiyuki, Herzig, Roman, Youssefian, Shohab, Koizumi, Akio
Published in PloS one (13.10.2016)
Published in PloS one (13.10.2016)
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Journal Article
Human ESCRT-III and VPS4 proteins are required for centrosome and spindle maintenance
Morita, Eiji, Colf, Leremy A., Karren, Mary Anne, Sandrin, Virginie, Rodesch, Christopher K., Sundquist, Wesley I., Lamb, Robert A.
Published in Proceedings of the National Academy of Sciences - PNAS (20.07.2010)
Published in Proceedings of the National Academy of Sciences - PNAS (20.07.2010)
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Journal Article
Atp8b1 deficiency in mice reduces resistance of the canalicular membrane to hydrophobic bile salts and impairs bile salt transport
Paulusma, Coen C., Groen, Annemiek, Kunne, Cindy, Ho‐Mok, Kam S., Spijkerboer, Astrid L., Rudi de Waart, D., Hoek, Frans J., Vreeling, Heleen, Hoeben, Kees A., van Marle, Jan, Pawlikowska, Ludmila, Bull, Laura N., Hofmann, Alan F., Knisely, A. S., Oude Elferink, Ronald P. J.
Published in Hepatology (Baltimore, Md.) (01.07.2006)
Published in Hepatology (Baltimore, Md.) (01.07.2006)
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Journal Article
The ATPase of the phi29 DNA packaging motor is a member of the hexameric AAA+ superfamily
Schwartz, Chad, De Donatis, Gian Marco, Fang, Huaming, Guo, Peixuan
Published in Virology (New York, N.Y.) (15.08.2013)
Published in Virology (New York, N.Y.) (15.08.2013)
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Journal Article
Positive Contribution of Pathogenic Mutations in the Mitochondrial Genome to the Promotion of Cancer by Prevention from Apoptosis
Shidara, Yujiro, Yamagata, Kumi, Kanamori, Takashi, Nakano, Kazutoshi, Kwong, Jennifer Q., Manfredi, Giovanni, Oda, Hideaki, Ohta, Shigeo
Published in Cancer research (Chicago, Ill.) (01.03.2005)
Published in Cancer research (Chicago, Ill.) (01.03.2005)
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Journal Article
Lower Circulating Folate Induced by a Fidgetin Intronic Variant is Associated with Reduced Congenital Heart Disease Susceptibility
Wang, Dan, Wang, Feng, Shi, Kai-Hu, Tao, Hui, Li, Yang, Zhao, Rui, Lu, Han, Duan, Wenyuan, Qiao, Bin, Zhao, Shi-Min, Wang, Hongyan, Zhao, Jian-Yuan
Published in Circulation (New York, N.Y.) (02.05.2017)
Published in Circulation (New York, N.Y.) (02.05.2017)
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Journal Article
Omeprazole, a Gastric Proton Pump Inhibitor, Inhibits Melanogenesis by Blocking ATP7A Trafficking
Matsui, Mary S., Petris, Michael J., Niki, Yoko, Karaman-Jurukovska, Nevena, Muizzuddin, Neelam, Ichihashi, Masamitsu, Yarosh, Daniel B.
Published in Journal of investigative dermatology (01.03.2015)
Published in Journal of investigative dermatology (01.03.2015)
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Journal Article
Cohesins and condensins orchestrate the 4D dynamics of yeast chromosomes during the cell cycle
Lazar‐Stefanita, Luciana, Scolari, Vittore F, Mercy, Guillaume, Muller, Héloise, Guérin, Thomas M, Thierry, Agnès, Mozziconacci, Julien, Koszul, Romain
Published in The EMBO journal (15.09.2017)
Published in The EMBO journal (15.09.2017)
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Journal Article
Antinuclear Matrix Protein 2 Autoantibodies and Edema, Muscle Disease, and Malignancy Risk in Dermatomyositis Patients
Albayda, Jemima, Pinal‐Fernandez, Iago, Huang, Wilson, Parks, Cassie, Paik, Julie, Casciola‐Rosen, Livia, Danoff, Sonye K., Johnson, Cheilonda, Christopher‐Stine, Lisa, Mammen, Andrew L.
Published in Arthritis care & research (2010) (01.11.2017)
Published in Arthritis care & research (2010) (01.11.2017)
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