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RNA Therapy for Oncogenic NRAS-Driven Nevi Induces Apoptosis RNA治疗致癌NRAS驱动的痣诱导细胞凋亡 Bryant, Dale; Barberan-Martin, Sara; Maeshima, Ruhina; Torres, Ignacio del Valle; Rabii, Mohammad; Baird, William; Sauvadet, Aimie; Demetriou, Charalambos; Jones, Phoebe; Knopfel, Nicole; Michailidis, Fanourios; Riachi, Melissa; Bennett, Dorothy C.; Zecchin, Davide; Pittman, Alan; Polubothu, Satyamaanasa; Hart, Stephen; Kinsler, Veronica A. 分享 收藏
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Ex Vivo Host Transcriptomics During Cryptococcus neoformans, Cryptococcus gattii, and Candida albicans Infection of Peripheral Blood Mononuclear Cells From South African Volunteers 来自南非志愿者的外周血单核细胞的新生隐球菌，加蒂隐球菌和白色念珠菌感染期间的离体宿主转录组学 Doyle, Ronan M.; Kannambath, Shichina; Pittman, Alan; Goliath, Rene; Kumar, Vinod; Meintjes, Graeme; Milburn, James; Netea, Mihai G.; Harrison, Thomas S.; Jarvis, Joseph N.; Bicanic, Tihana 分享 收藏
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Mosaic BRAF Fusions Are a Recurrent Cause of Congenital Melanocytic Nevi Targetable by MAPK Inhibition Martin, Sara Barberan; Polubothu, Satyamaanasa; Bruzos, Alicia Lopez; Kelly, Gavin; Horswell, Stuart; Sauvadet, Aimie; Bryant, Dale; Zecchin, Davide; Riachi, Melissa; Michailidis, Fanourios; Sadri, Amir; Muwanga-Nanyonjo, Noreen; Lopez-Balboa, Pablo; Knopfel, Nicole; Bulstrode, Neil; Pittman, Alan; Yeh, Iwei; Kinsler, Veronica A. 分享 收藏
Targeted genetic therapy for congenital melanocytic naevi Bryant, Dale; Barberan-Martin, Sara; Maeshima, Ruhina; Torres, Ignacio Del Valle; Rabii, Mohammad; Sauvadet, Aimie; Demetriou, Charalambos; Knopfel, Nicole; Michailides, Fanis; Riachi, Melissa; Zecchin, Davide; Pittman, Alan; Polubothu, Satyamaanasa; Hart, Steve; Kinsler, Veronica 分享 收藏
Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities Whittle, Ella F.; Chilian, Madison; Karimiani, Ehsan Ghayoor; Progri, Helga; Buhas, Daniela; Kose, Melis; Ganetzky, Rebecca D.; Toosi, Mehran Beiraghi; Torbati, Paria Najarzadeh; Badv, Reza Shervin; Shelihan, Ivan; Yang, Hui; Elloumi, Houda Zghal; Lee, Sukyeong; Jamshidi, Yalda; Pittman, Alan M.; Houlden, Henry; Ignatius, Erika; Rahman, Shamima; Maroofian, Reza; Yoon, Wan Hee; Carrol, Christopher J. 分享 收藏
Integrin α7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and Mice Bugiardini, Enrico; Nunes, Andreia M.; Oliveira-Santos, Ariany; Dagda, Marisela; Fontelonga, Tatiana M.; Barraza-Flores, Pamela; Pittman, Alan M.; Morrow, Jasper M.; Parton, Matthew; Houlden, Henry; Elliott, Perry M.; Syrris, Petros; Maas, Roderick P.; Akhtar, Mohammed M.; Kusters, Benno; Raaphorst, Joost; Schouten, Meyke; Kamsteeg, Erik-Jan; van Engelen, Baziel; Hanna, Michael G.; Phadke, Rahul; Lopes, Luis R.; Matthews, Emma; Burkin, Dean J. 分享 收藏
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Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson's disease at 16q11.2 and MAPT H1 loci NSL复合体对线粒体吞噬的调节是16 q11.2和MAPT H1位点帕金森病遗传风险的基础 Soutar, Marc P. M.; Melandri, Daniela; O'Callaghan, Benjamin; Annuario, Emily; Monaghan, Amy E.; Welsh, Natalie J.; D'Sa, Karishma; Guelfi, Sebastian; Zhang, David; Pittman, Alan; Trabzuni, Daniah; Verboven, Anouk H. A.; Pan, Kylie S.; Kia, Demis A.; Bictash, Magda; Gandhi, Sonia; Houlden, Henry; Cookson, Mark R.; Kasri, Nael Nadif; Wood, Nicholas W.; Singleton, Andrew B.; Hardy, John; Whiting, Paul J.; Blauwendraat, Cornelis; Whitworth, Alexander J.; Manzoni, Claudia; Ryten, Mina; Lewis, Patrick A.; Plun-Favreau, Helene 分享 收藏
Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways Young, William J.; Lahrouchi, Najim; Isaacs, Aaron; Duong, Thuy Vy; Foco, Luisa; Ahmed, Farah; Brody, Jennifer A.; Salman, Reem; Noordam, Raymond; Benjamins, Jan-Walter; Haessler, Jeffrey; Lyytikainen, Leo-Pekka; Repetto, Linda; Concas, Maria Pina; van den Berg, Marten E.; Weiss, Stefan; Baldassari, Antoine R.; Bartz, Traci M.; Cook, James P.; Evans, Daniel S.; Freudling, Rebecca; Hines, Oliver; Isaksen, Jonas L.; Lin, Honghuang; Mei, Hao; Moscati, Arden; Mueller-Nurasyid, Martina; Nursyifa, Casia; Qian, Yong; Richmond, Anne; Roselli, Carolina; Ryan, Kathleen A.; Tarazona-Santos, Eduardo; Theriault, Sebastien; van Duijvenboden, Stefan; Warren, Helen R.; Yao, Jie; Raza, Dania; Aeschbacher, Stefanie; Ahlberg, Gustav; Alonso, Alvaro; Andreasen, Laura; Bis, Joshua C.; Boerwinkle, Eric; Campbell, Archie; Catamo, Eulalia; Cocca, Massimiliano; Cutler, Michael J.; Darbar, Dawood; De Grandi, Alessandro; De Luca, Antonio; Ding, Jun; Ellervik, Christina; Ellinor, Patrick T.; Felix, Stephan B.; Froguel, Philippe; Fuchsberger, Christian; Gogele, Martin; Graff, Claus; Graff, Mariaelisa; Guo, Xiuqing; Hansen, Torben; Heckbert, Susan R.; Huang, Paul L.; Huikuri, Heikki, V; Hutri-Kahonen, Nina; Ikram, M. Arfan; Jackson, Rebecca D.; Junttila, Juhani; Kavousi, Maryam; Kors, Jan A.; Leal, Thiago P.; Lemaitre, Rozenn N.; Lin, Henry J.; Lind, Lars; Linneberg, Allan; Liu, Simin; MacFarlane, Peter W.; Mangino, Massimo; Meitinger, Thomas; Mezzavilla, Massimo; Mishra, Pashupati P.; Mitchell, Rebecca N.; Mononen, Nina; Montasser, May E.; Morrison, Alanna C.; Nauck, Matthias; Nauffal, Victor; Navarro, Pau; Nikus, Kjell; Pare, Guillaume; Patton, Kristen K.; Pelliccione, Giulia; Pittman, Alan; Porteous, David J.; Pramstaller, Peter P.; Preuss, Michael H.; Raitakari, Olli T.; Reiner, Alexander P.; Ribeiro, Antonio Luiz P.; Rice, Kenneth M.; Risch, Lorenz; Schlessinger, David; Schotten, Ulrich; Schurmann, Claudia; Shen, Xia; Shoemaker, M. Benjamin; Sinagra, Gianfranco; Sinner, Moritz F.; Soliman, Elsayed Z.; Stoll, Monika; Strauch, Konstantin; Tarasov, Kirill; Taylor, Kent D.; Tinker, Andrew; Trompet, Stella; Uitterlinden, Andre; Voelker, Uwe; Voelzke, Henry; Waldenberger, Melanie; Weng, Lu-Chen; Whitsel, Eric A.; Wilson, James G.; Avery, Christy L.; Conen, David; Correa, Adolfo; Cucca, Francesco; Dorr, Marcus; Gharib, Sina A.; Girotto, Giorgia; Grarup, Niels; Hayward, Caroline; Jamshidi, Yalda; Jarvelin, Marjo-Riitta; Jukema, J. Wouter; Kaab, Stefan; Kahonen, Mika; Kanters, Jorgen K.; Kooperberg, Charles; Lehtimaki, Terho; Lima-Costa, Maria Fernanda; Liu, Yongmei; Loos, Ruth J. F.; Lubitz, Steven A.; Mook-Kanamori, Dennis O.; Morris, Andrew P.; O'Connell, Jeffrey R.; Olesen, Morten Salling; Orini, Michele; Padmanabhan, Sandosh; Pattaro, Cristian; Peters, Annette; Psaty, Bruce M.; Rotter, Jerome, I; Stricker, Bruno; van der Harst, Pim; van Duijn, Cornelia M.; Verweij, Niek; Wilson, James F.; Arking, Dan E.; Ramirez, Julia; Lambiase, Pier D.; Sotoodehnia, Nona; Mifsud, Borbala; Newton-Cheh, Christopher; Munroe, Patricia B. 分享 收藏
Rare Variation in Drug Metabolism and Long QT Genes and the Genetic Susceptibility to Acquired Long QT Syndrome Gray, Belinda; Baruteau, Alban-Elouen; Antolin, Albert A.; Pittman, Alan; Sarganas, Giselle; Molokhia, Mariam; Blom, Marieke T.; Bastiaenen, Rachel; Bardai, Abdenasser; Priori, Silvia G.; Napolitano, Carlo; Weeke, Peter E.; Shakir, Saad A.; Haverkamp, Wilhelm; Mestres, Jordi; Winkel, Bo; Witney, Adam A.; Chis-Ster, Irina; Sangaralingam, Ajanthah; Camm, A. John; Tfelt-Hansen, Jacob; Roden, Dan M.; Tan, Hanno L.; Garbe, Edeltraut; Sturkenboom, Miriam; Behr, Elijah R. 分享 收藏
Molecular Genetic Dissection of Inflammatory Linear Verrucous Epidermal Naevus Leads to Successful Targeted Therapy Riachi, Melissa; Polubothu, Satyamaanasa; Stadnik, Paulina; Hughes, Connor; Martin, Sara Barberan; Charman, Carolyn R.; Cheng, Iek Leng; Gholam, Karolina; Ogunbiyi, Olumide; Paige, David G.; Sebire, Neil J.; Pittman, Alan; Di, Wei-Li; Kinsler, Veronica A. 分享 收藏
Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype PPP2R3B的遗传重复通过C21orf91-driven增殖表型易患痣和黑色素瘤 Polubothu, Satyamaanasa; Zecchin, Davide; Al-Olabi, Lara; Lionarons, Daniel A.; Harland, Mark; Horswell, Stuart; Thomas, Anna C.; Hunt, Lilian; Wlodarchak, Nathan; Aguilera, Paula; Brand, Sarah; Bryant, Dale; Carrera, Cristina; Chen, Hui; Elgar, Greg; Harwood, Catherine A.; Howell, Michael; Larue, Lionel; Loughlin, Sam; MacDonald, Jeff; Malvehy, Josep; Barberan, Sara Martin; da Silva, Vanessa Martins; Molina, Miriam; Morrogh, Deborah; Moulding, Dale; Nsengimana, Jeremie; Pittman, Alan; Puig-Butille, Juan-Anton; Parmar, Kiran; Sebire, Neil J.; Scherer, Stephen; Stadnik, Paulina; Stanier, Philip; Tell, Gemma; Waelchli, Regula; Zarrei, Mehdi; Puig, Susana; Bataille, Veronique; Xing, Yongna; Healy, Eugene; Moore, Gudrun E.; Di, Wei-Li; Newton-Bishop, Julia; Downward, Julian; Kinsler, Veronica A. 分享 收藏
Iterative Reanalysis of Hypertrophic Cardiomyopathy Exome Data Reveals Causative Pathogenic Mitochondrial DNA Variants Lopes, Luis R.; Murphy, David; Bugiardini, Enrico; Salem, Reem; Jager, Joanna; Futema, Marta; Majid Akhtar, Mohammed; Savvatis, Konstantinos; Woodward, Cathy; Pittman, Alan M.; Hanna, Michael G.; Syrris, Petros; Pitceathly, Robert D. S.; Elliott, Perry M. 分享 收藏
Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases Poole, Olivia V.; Pizzamiglio, Chiara; Murphy, David; Falabella, Micol; Macken, William L.; Bugiardini, Enrico; Woodward, Cathy E.; Labrum, Robyn; Efthymiou, Stephanie; Salpietro, Vincenzo; Chelban, Viorica; Kaiyrzhanov, Rauan; Maroofian, Reza; Amato, Anthony A.; Gregory, Allison; Hayflick, Susan J.; Jonvik, Hallgeir; Wood, Nicholas; Houlden, Henry; Vandrovcova, Jana; Hanna, Michael G.; Pittman, Alan; Pitceathly, Robert D. S. 分享 收藏
Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia Mencacci, Niccolo E.; Brockmann, Marisa M.; Dai, Jinye; Pajusalu, Sander; Atasu, Burcu; Campos, Joaquin; Pino, Gabriela; Gonzalez-Latapi, Paulina; Patzke, Christopher; Schwake, Michael; Tucci, Arianna; Pittman, Alan; Simon-Sanchez, Javier; Carvill, Gemma L.; Balint, Bettina; Wiethoff, Sarah; Warner, Thomas T.; Papandreou, Apostolos; Soo, Audrey; Rein, Reet; Kadastik-Eerme, Liis; Puusepp, Sanna; Reinson, Karit; Tomberg, Tiiu; Hanagasi, Hasmet; Gasser, Thomas; Bhatia, Kailash P.; Kurian, Manju A.; Lohmann, Ebba; Ounap, Katrin; Rosenmund, Christian; Sudhof, Thomas C.; Wood, Nicholas W.; Krainc, Dimitri; Acuna, Claudio 分享 收藏
Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum Kaiyrzhanov, Rauan; Wortmann, Saskia; Reid, Taryn; Dehghani, Mohammadreza; Mehrjardi, Mohammad Yahya Vahidi; Alhaddad, Bader; Wagner, Matias; Deschauer, Marcus; Cordts, Isabell; Fernandez-Murray, J. Pedro; Treffer, Veronika; Metanat, Zahra; Pitman, Alan; Houlden, Henry; Meitinger, Thomas; Carroll, Christopher; McMaster, Christopher R.; Maroofian, Reza 分享 收藏
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