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A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome
Rutsch, Frank, MacDougall, Mary, Lu, Changming, Buers, Insa, Mamaeva, Olga, Nitschke, Yvonne, Rice, Gillian I., Erlandsen, Heidi, Kehl, Hans Gerd, Thiele, Holger, Nürnberg, Peter, Höhne, Wolfgang, Crow, Yanick J., Feigenbaum, Annette, Hennekam, Raoul C.
Published in American journal of human genetics (05.02.2015)
Published in American journal of human genetics (05.02.2015)
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Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism
Scholl, Ute I, Stölting, Gabriel, Nelson-Williams, Carol, Vichot, Alfred A, Choi, Murim, Loring, Erin, Prasad, Manju L, Goh, Gerald, Carling, Tobias, Juhlin, C Christofer, Quack, Ivo, Rump, Lars C, Thiel, Anne, Lande, Marc, Frazier, Britney G, Rasoulpour, Majid, Bowlin, David L, Sethna, Christine B, Trachtman, Howard, Fahlke, Christoph, Lifton, Richard P
Published in eLife (24.04.2015)
Published in eLife (24.04.2015)
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The apolipoprotein C-III (Gln38Lys) variant associated with human hypertriglyceridemia is a gain-of-function mutation
Sundaram, Meenakshi, Curtis, Kaitlin R., Amir Alipour, Mohsen, LeBlond, Nicholas D., Margison, Kaitlyn D., Yaworski, Rebecca A., Parks, Robin J., McIntyre, Adam D., Hegele, Robert A., Fullerton, Morgan D., Yao, Zemin
Published in Journal of lipid research (01.11.2017)
Published in Journal of lipid research (01.11.2017)
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Genetic screen for suppression of transcriptional interference identifies a gain-of-function mutation in Pol2 termination factor Seb1
Schwer, Beate, Garg, Angad, Jacewicz, Agata, Shuman, Stewart
Published in Proceedings of the National Academy of Sciences - PNAS (17.08.2021)
Published in Proceedings of the National Academy of Sciences - PNAS (17.08.2021)
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Allele-specific silencing of the gain-of-function mutation in Huntington’s disease using CRISPR/Cas9
Shin, Jun Wan, Hong, Eun Pyo, Park, Seri S., Choi, Doo Eun, Seong, Ihn Sik, Whittaker, Madelynn N., Kleinstiver, Benjamin P., Chen, Richard Z., Lee, Jong-Min
Published in JCI insight (10.10.2022)
Published in JCI insight (10.10.2022)
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Identification of a KCNE2 Gain-of-Function Mutation in Patients with Familial Atrial Fibrillation
Yang, Yiqing, Xia, Min, Jin, Qingfeng, Bendahhou, Saïd, Shi, Jingyi, Chen, Yiping, Liang, Bo, Lin, Jie, Liu, Yi, Liu, Ban, Zhou, Qinshu, Zhang, Dongwei, Wang, Rong, Ma, Ning, Su, Xiaoyan, Niu, Kaiya, Pei, Yan, Xu, Wenyuan, Chen, Zhaopeng, Wan, Haiying, Cui, Jianmin, Barhanin, Jacques, Chen, Yihan
Published in American journal of human genetics (01.11.2004)
Published in American journal of human genetics (01.11.2004)
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New TRPC6 gain-of-function mutation in a non-consanguineous Dutch family with late-onset focal segmental glomerulosclerosis
Hofstra, Julia M., Lainez, Sergio, van Kuijk, Willie H.M., Schoots, Jeroen, Baltissen, Marijke P.A., Hoefsloot, Lies H., Knoers, Nine V.A.M., Berden, Jo H.M., Bindels, René J.M., van der Vlag, Johan, Hoenderop, Joost G.J., Wetzels, Jack F.M., Nijenhuis, Tom
Published in Nephrology, dialysis, transplantation (01.07.2013)
Published in Nephrology, dialysis, transplantation (01.07.2013)
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Specific changes in conduction velocity recovery cycles of single nociceptors in a patient with erythromelalgia with the I848T gain-of-function mutation of Na(v)1.7
Namer, Barbara, Orstavik, Kristin, Schmidt, Roland, Kleggetveit, Inge-Petter, Weidner, Christian, Mork, Cato, Kvernebo, Mari Skylstad, Kvernebo, Knut, Salter, Hugh, Carr, Thomas Hedley, Segerdahl, Marta, Quiding, Hans, Waxman, Stephen George, Handwerker, Hermann Otto, Torebjörk, Hans Erik, Jorum, Ellen, Schmelz, Martin
Published in Pain (Amsterdam) (01.09.2015)
Published in Pain (Amsterdam) (01.09.2015)
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JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their Multidimensional Consequences
Ott, Nils, Faletti, Laura, Heeg, Maximilian, Andreani, Virginia, Grimbacher, Bodo
Published in Journal of clinical immunology (01.08.2023)
Published in Journal of clinical immunology (01.08.2023)
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Abstract 12896: ApoC3-Gln38Lys Variant is a Gain-of-function Mutation Associated With Human Hypertriglyceridemia
Yao, Zemin, Sundaram, Meenakshi, Curtis, Kaitlin R, Alipour, Mohsen A, Parks, Robin J, McIntyre, Adam D, Hegele, Robert A
Published in Circulation (New York, N.Y.) (11.11.2016)
Published in Circulation (New York, N.Y.) (11.11.2016)
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Identification of a gain-of-function mutation of the prolactin receptor in women with benign breast tumors
Bogorad, Roman L, Courtillot, Carine, Mestayer, Chidi, Bernichtein, Sophie, Harutyunyan, Lilya, Jomain, Jean-Baptiste, Bachelot, Anne, Kuttenn, Frédérique, Kelly, Paul A, Goffin, Vincent, Touraine, Philippe
Published in Proceedings of the National Academy of Sciences - PNAS (23.09.2008)
Published in Proceedings of the National Academy of Sciences - PNAS (23.09.2008)
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Abstract 11157: Prevalence, Clinical Characteristics and Cardiovascular Outcomes in Heterozygous Familial Hypercholesterolemia Patients With Double-Heterozygous Mutation of LDLR and PCSK9 Gain-Of-Function Mutation
Doi, Takahito, Hori, Mika, Harada-Shiba, Mariko, Kataoka, Yu, Nishikawa, Ryo, Tsuda, Kosuke, Nishimura, Kunihiro, Ogura, Masatsune, Noguchi, Teruo, Yasuda, Satoshi
Published in Circulation (New York, N.Y.) (06.11.2018)
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Published in Circulation (New York, N.Y.) (06.11.2018)
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Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy
Göös, Helka, Fogarty, Christopher L., Sahu, Biswajyoti, Plagnol, Vincent, Rajamäki, Kristiina, Nurmi, Katariina, Liu, Xiaonan, Einarsdottir, Elisabet, Jouppila, Annukka, Pettersson, Tom, Vihinen, Helena, Krjutskov, Kaarel, Saavalainen, Päivi, Järvinen, Asko, Muurinen, Mari, Greco, Dario, Scala, Giovanni, Curtis, James, Nordström, Dan, Flaumenhaft, Robert, Vaarala, Outi, Kovanen, Panu E., Keskitalo, Salla, Ranki, Annamari, Kere, Juha, Lehto, Markku, Notarangelo, Luigi D., Nejentsev, Sergey, Eklund, Kari K., Varjosalo, Markku, Taipale, Jussi, Seppänen, Mikko R.J.
Published in Journal of allergy and clinical immunology (01.11.2019)
Published in Journal of allergy and clinical immunology (01.11.2019)
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Specific changes in conduction velocity recovery cycles of single nociceptors in a patient with erythromelalgia with the I848T gain-of-function mutation of Nav1.7
Namer, Barbara, Ørstavik, Kristin, Schmidt, Roland, Kleggetveit, Inge-Petter, Weidner, Christian, Mørk, Cato, Kvernebo, Mari Skylstad, Kvernebo, Knut, Salter, Hugh, Carr, Thomas Hedley, Segerdahl, Märta, Quiding, Hans, Waxman, Stephen George, Handwerker, Hermann Otto, Torebjörk, Hans Erik, Jørum, Ellen, Schmelz, Martin
Published in Pain (Amsterdam) (01.09.2015)
Published in Pain (Amsterdam) (01.09.2015)
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Mutation of the Human Circadian Clock Gene CRY1 in Familial Delayed Sleep Phase Disorder
Patke, Alina, Murphy, Patricia J., Onat, Onur Emre, Krieger, Ana C., Özçelik, Tayfun, Campbell, Scott S., Young, Michael W.
Published in Cell (06.04.2017)
Published in Cell (06.04.2017)
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Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations
Leiding, Jennifer W., Okada, Satoshi, Hagin, David, Abinun, Mario, Shcherbina, Anna, Balashov, Dmitry N., Kim, Vy H.D., Ovadia, Adi, Guthery, Stephen L., Pulsipher, Michael, Lilic, Desa, Devlin, Lisa A., Christie, Sharon, Depner, Mark, Fuchs, Sebastian, van Royen-Kerkhof, Annet, Lindemans, Caroline, Petrovic, Aleksandra, Sullivan, Kathleen E., Bunin, Nancy, Kilic, Sara Sebnem, Arpaci, Fikret, Calle-Martin, Oscar de la, Martinez-Martinez, Laura, Aldave, Juan Carlos, Kobayashi, Masao, Ohkawa, Teppei, Imai, Kohsuke, Iguchi, Akihiro, Roifman, Chaim M., Gennery, Andrew R., Slatter, Mary, Ochs, Hans D., Morio, Tomohiro, Torgerson, Troy R.
Published in Journal of allergy and clinical immunology (01.02.2018)
Published in Journal of allergy and clinical immunology (01.02.2018)
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DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation
Prasov, Lev, Bohnsack, Brenda L, El Husny, Antonette S, Tsoi, Lam C, Guan, Bin, Kahlenberg, J Michelle, Almeida, Edmundo, Wang, Haitao, Cowen, Edward W, De Jesus, Adriana A, Jani, Priyam, Billi, Allison C, Moroi, Sayoko E, Wasikowski, Rachael, Almeida, Izabela, Almeida, Luciana N, Kok, Fernando, Garnai, Sarah J, Mian, Shahzad I, Chen, Marcus Y, Warner, Blake M, Ferreira, Carlos R, Goldbach-Mansky, Raphaela, Hur, Sun, Brooks, Brian P, Richards, Julia E, Hufnagel, Robert B, Gudjonsson, Johann E
Published in Journal of medical genetics (01.03.2022)
Published in Journal of medical genetics (01.03.2022)
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