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Heterozygous PINK1 p.G411S increases risk of Parkinson’s disease via a dominant-negative mechanism
Puschmann, Andreas, Fiesel, Fabienne C., Caulfield, Thomas R., Hudec, Roman, Ando, Maya, Truban, Dominika, Hou, Xu, Ogaki, Kotaro, Heckman, Michael G., James, Elle D., Swanberg, Maria, Jimenez-Ferrer, Itzia, Hansson, Oskar, Opala, Grzegorz, Siuda, Joanna, Boczarska-Jedynak, Magdalena, Friedman, Andrzej, Koziorowski, Dariusz, Aasly, Jan O., Lynch, Timothy, Mellick, George D., Mohan, Megha, Silburn, Peter A., Sanotsky, Yanosh, Vilariño-Güell, Carles, Farrer, Matthew J., Chen, Li, Dawson, Valina L., Dawson, Ted M., Wszolek, Zbigniew K., Ross, Owen A., Springer, Wolfdieter
Published in Brain (London, England : 1878) (01.01.2017)
Published in Brain (London, England : 1878) (01.01.2017)
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A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura
Lafrenière, Ronald G, Cader, M Zameel, Poulin, Jean-François, Andres-Enguix, Isabelle, Simoneau, Maryse, Gupta, Namrata, Boisvert, Karine, Lafrenière, François, McLaughlan, Shannon, Dubé, Marie-Pierre, Marcinkiewicz, Martin M, Ramagopalan, Sreeram, Ansorge, Olaf, Brais, Bernard, Sequeiros, Jorge, Pereira-Monteiro, Jose Maria, Griffiths, Lyn R, Tucker, Stephen J, Ebers, George, Rouleau, Guy A
Published in Nature medicine (01.10.2010)
Published in Nature medicine (01.10.2010)
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Combined immunodeficiency and atopy caused by a dominant negative mutation in caspase activation and recruitment domain family member 11 (CARD11)
Dadi, Harjit, Jones, Tyler A., Merico, Daniele, Sharfe, Nigel, Ovadia, Adi, Schejter, Yael, Reid, Brenda, Sun, Mark, Vong, Linda, Atkinson, Adelle, Lavi, Sasson, Pomerantz, Joel L., Roifman, Chaim M.
Published in Journal of allergy and clinical immunology (01.05.2018)
Published in Journal of allergy and clinical immunology (01.05.2018)
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Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay
Saitsu, Hirotomo, Tohyama, Jun, Kumada, Tatsuro, Egawa, Kiyoshi, Hamada, Keisuke, Okada, Ippei, Mizuguchi, Takeshi, Osaka, Hitoshi, Miyata, Rie, Furukawa, Tomonori, Haginoya, Kazuhiro, Hoshino, Hideki, Goto, Tomohide, Hachiya, Yasuo, Yamagata, Takanori, Saitoh, Shinji, Nagai, Toshiro, Nishiyama, Kiyomi, Nishimura, Akira, Miyake, Noriko, Komada, Masayuki, Hayashi, Kenji, Hirai, Syu-ichi, Ogata, Kazuhiro, Kato, Mitsuhiro, Fukuda, Atsuo, Matsumoto, Naomichi
Published in American journal of human genetics (11.06.2010)
Published in American journal of human genetics (11.06.2010)
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Dominant-negative loss of function arises from a second, more frequent variant within the SAND domain of autoimmune regulator (AIRE)
Abbott, Jordan K., Huoh, Yu-San, Reynolds, Paul R., Yu, Liping, Rewers, Marian, Reddy, Monica, Anderson, Mark S., Hur, Sun, Gelfand, Erwin W.
Published in Journal of autoimmunity (01.03.2018)
Published in Journal of autoimmunity (01.03.2018)
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Human Metabolic Syndrome Resulting From Dominant-Negative Mutations in the Nuclear Receptor Peroxisome Proliferator-Activated Receptor-γ
Savage, David B., Tan, Garry D., Acerini, Carlo L., Jebb, Susan A., Agostini, Maura, Gurnell, Mark, Williams, Rachel L., Umpleby, A. Margot, Thomas, E. Louise, Bell, Jimmy D., Dixon, Adrian K., Dunne, Fidelma, Boiani, Romina, Cinti, Saverio, Vidal-Puig, Antonio, Karpe, Fredrik, Chatterjee, V. Krishna K., O’Rahilly, Stephen
Published in Diabetes (New York, N.Y.) (01.04.2003)
Published in Diabetes (New York, N.Y.) (01.04.2003)
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Dominant negative mutations in human PPARγ associated with severe insulin resistance, diabetes mellitus and hypertension
Barroso, I., Gurnell, M., Crowley, V. E. F., Agostini, M., Schwabe, J. W., Soos, M. A., Maslen, G. LI, Williams, T. D. M., Lewis, H., Schafer, A. J., Chatterjee, V. K. K., O'Rahilly, S.
Published in Nature (London) (23.12.1999)
Published in Nature (London) (23.12.1999)
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PCSK9 Dominant Negative Mutant Results in Increased LDL Catabolic Rate and Familial Hypobetalipoproteinemia
Cariou, Bertrand, Ouguerram, Khadija, Zaïr, Yassine, Guerois, Raphael, Langhi, Cédric, Kourimate, Sanae, Benoit, Isabelle, Le May, Cédric, Gayet, Constance, Belabbas, Khaldia, Dufernez, Fabienne, Chétiveaux, Maud, Tarugi, Patrizia, Krempf, Michel, Benlian, Pascale, Costet, Philippe
Published in Arteriosclerosis, thrombosis, and vascular biology (01.12.2009)
Published in Arteriosclerosis, thrombosis, and vascular biology (01.12.2009)
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Dominant-negative TLR5 polymorphism reduces adaptive immune response to flagellin and negatively associates with Crohn's disease
Gewirtz, Andrew T., Vijay-Kumar, Matam, Brant, Steven R., Duerr, Richard H., Nicolae, Dan L., Cho, Judy H.
Published in American journal of physiology: Gastrointestinal and liver physiology (01.06.2006)
Published in American journal of physiology: Gastrointestinal and liver physiology (01.06.2006)
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Dominant Negative ATM Mutations in Breast Cancer Families
Chenevix-Trench, Georgia, Spurdle, Amanda B., Gatei, Magtouf, Kelly, Helena, Marsh, Anna, Chen, Xiaoqing, Donn, Karen, Cummings, Margaret, Nyholt, Dale, Jenkins, Mark A., Scott, Clare, Pupo, Gulietta M., Dörk, Thilo, Bendix, Regina, Kirk, Judy, Tucker, Katherine, McCredie, Margaret R. E., Hopper, John L., Sambrook, Joseph, Mann, Graham J., Khanna, Kum Kum
Published in JNCI : Journal of the National Cancer Institute (06.02.2002)
Published in JNCI : Journal of the National Cancer Institute (06.02.2002)
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A dominant negative ADIPOQ mutation in a diabetic family with renal disease, hypoadiponectinemia, and hyperceramidemia
Simeone, Christopher A., Wilkerson, Joseph L., Poss, Annelise M., Banks, James A., Varre, Joseph V., Guevara, Jose Lazaro, Hernandez, Edgar Javier, Gorsi, Bushra, Atkinson, Donald L., Turapov, Tursun, Frodsham, Scott G., Morales, Julio C. Fierro, O’Neil, Kristina, Moore, Barry, Yandell, Mark, Summers, Scott A., Krolewski, Andrzej S., Holland, William L., Pezzolesi, Marcus G.
Published in Npj genomic medicine (22.07.2022)
Published in Npj genomic medicine (22.07.2022)
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Control of Rhythm and Rate278Cx43 hemichannels in ventricular cardiomyocytes can be activated by an elevation of cytoplasmic Ca2+ through a CaM-dependent signaling cascade and are a potent contributor to cardiac arrhythmogenesis279Exploration of the dominant-negative effect of a SCN5A mutation in mice using adeno-associated viruses280Modeling susceptibility to drug-induced long qt syndrome with a panel of subject-specific induced pluripotent stem cells
De Smet, M, Doisne, N, Stillitano, F, Lissoni, A, Wang, N, Leybaert, L, Grauso, M, Mougenot, N, Clergue, M, Coulombe, A, Guicheney, P, Neyroud, N, Kong, CW, Hansen, J, Funck-Brentano, C, Jeziorowska, D, Zahr, N, Li, R, Iyengar, R, Hajjar, RJ, Hulot, JS
Published in Cardiovascular research (01.07.2016)
Published in Cardiovascular research (01.07.2016)
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Dominant-Negative GCMB Mutations Cause an Autosomal Dominant Form of Hypoparathyroidism
Mannstadt, Michael, Bertrand, Guylène, Muresan, Mihaela, Weryha, Georges, Leheup, Bruno, Pulusani, Sirish R., Grandchamp, Bernard, Jüppner, Harald, Silve, Caroline
Published in The journal of clinical endocrinology and metabolism (01.09.2008)
Published in The journal of clinical endocrinology and metabolism (01.09.2008)
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Toll-Like Receptor 2 (P631H) Mutant Impairs Membrane Internalization and is a Dominant Negative Allele
Etokebe, G.E, Skjeldal, F, Nilsen, N, Rodionov, D, Knezevic, J, Bulat-Kardum, L, Espevik, T, Bakke, O, Dembic, Z
Published in Scandinavian journal of immunology (01.05.2010)
Published in Scandinavian journal of immunology (01.05.2010)
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Rosiglitazone increases indexes of stearoyl-CoA desaturase activity in humans: link to insulin sensitization and the role of dominant-negative mutation in peroxisome proliferator-activated receptor-gamma
Risérus, Ulf, Tan, Garry D, Fielding, Barbara A, Neville, Matt J, Currie, Jenny, Savage, David B, Chatterjee, V Krishna, Frayn, Keith N, O'Rahilly, Stephen, Karpe, Fredrik
Published in Diabetes (New York, N.Y.) (01.05.2005)
Published in Diabetes (New York, N.Y.) (01.05.2005)
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Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease
Dorjbal, Batsukh, Stinson, Jeffrey R., Ma, Chi A., Weinreich, Michael A., Miraghazadeh, Bahar, Hartberger, Julia M., Frey-Jakobs, Stefanie, Weidinger, Stephan, Moebus, Lena, Franke, Andre, Schäffer, Alejandro A., Bulashevska, Alla, Fuchs, Sebastian, Ehl, Stephan, Limaye, Sandhya, Arkwright, Peter D., Briggs, Tracy A., Langley, Claire, Bethune, Claire, Whyte, Andrew F., Alachkar, Hana, Nejentsev, Sergey, DiMaggio, Thomas, Nelson, Celeste G., Stone, Kelly D., Nason, Martha, Brittain, Erica H., Oler, Andrew J., Veltri, Daniel P., Leahy, T. Ronan, Conlon, Niall, Poli, Maria C., Borzutzky, Arturo, Cohen, Jeffrey I., Davis, Joie, Lambert, Michele P., Romberg, Neil, Sullivan, Kathleen E., Paris, Kenneth, Freeman, Alexandra F., Lucas, Laura, Chandrakasan, Shanmuganathan, Savic, Sinisa, Hambleton, Sophie, Patel, Smita Y., Jordan, Michael B., Theos, Amy, Lebensburger, Jeffrey, Atkinson, T. Prescott, Torgerson, Troy R., Chinn, Ivan K., Milner, Joshua D., Grimbacher, Bodo, Cook, Matthew C., Snow, Andrew L.
Published in Journal of allergy and clinical immunology (01.04.2019)
Published in Journal of allergy and clinical immunology (01.04.2019)
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A Destructive Interaction Mechanism Accounts for Dominant-Negative Effects of Misfolded Mutants of Voltage-Gated Calcium Channels
Mezghrani, Alexandre, Monteil, Arnaud, Watschinger, Katrin, Sinnegger-Brauns, Martina J, Barrere, Christian, Bourinet, Emmanuel, Nargeot, Joel, Striessnig, Jorg, Lory, Philippe
Published in The Journal of neuroscience (23.04.2008)
Published in The Journal of neuroscience (23.04.2008)
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Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia
Cinque, Luigia, Pugliese, Flavia, Salcuni, Antonio Stefano, Trombetta, Domenico, Battista, Claudia, Biagini, Tommaso, Augello, Bartolomeo, Nardella, Grazia, Conti, Francesco, Corbetta, Sabrina, Fischetto, Rita, Foiadelli, Thomas, Gaudio, Agostino, Giannini, Cosimo, Grosso, Enrico, Guabello, Gregorio, Massuras, Stefania, Palermo, Andrea, Politano, Luisa, Pigliaru, Francesca, Ruggeri, Rosaria Maddalena, Scarano, Emanuela, Vicchio, Piera, Cannavò, Salvatore, Celli, Mauro, Petrizzelli, Francesco, Mastroianno, Mario, Castori, Marco, Scillitani, Alfredo, Guarnieri, Vito
Published in Frontiers in endocrinology (Lausanne) (01.08.2023)
Published in Frontiers in endocrinology (Lausanne) (01.08.2023)
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