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Gain-of-function Naᵥ1.8 mutations in painful neuropathy
Faber, Catharina G, Lauria, Giuseppe, Merkies, Ingemar S. J, Cheng, Xiaoyang, Han, Chongyang, Ahn, Hye-Sook, Persson, Anna-Karin, Hoeijmakers, Janneke G. J, Gerrits, Monique M, Pierro, Tiziana, Lombardi, Raffaella, Kapetis, Dimos, Dib-Hajj, Sulayman D, Waxman, Stephen G
Published in Proceedings of the National Academy of Sciences - PNAS (20.11.2012)
Published in Proceedings of the National Academy of Sciences - PNAS (20.11.2012)
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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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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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Gain‐of‐function variants in the melanocortin 4 receptor gene confer susceptibility to binge eating disorder in subjects with obesity: a systematic review and meta‐analysis
Qasim, A., Mayhew, A. J., Ehtesham, S., Alyass, A., Volckmar, A.‐L., Herpertz, S., Hinney, A., Hebebrand, J., Meyre, D.
Published in Obesity reviews (01.01.2019)
Published in Obesity reviews (01.01.2019)
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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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Gain-of-function variants in SMAD4 compromise respiratory epithelial function
Lindsay, Mark E., Scimone, Eleanor R., Lawton, Joseph, Richa, Rashmi, Yonker, Lael M., Di, Yuanpu P., Buch, Karen, Ouyang, Wukun, Mo, Xiulei, Lin, Angela E., Mou, Hongmei
Published in Journal of allergy and clinical immunology (01.01.2025)
Published in Journal of allergy and clinical immunology (01.01.2025)
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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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Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment
Srour, Myriam, Caron, Véronique, Pearson, Toni, Nielsen, Sarah B., Lévesque, Sébastien, Delrue, Marie-Ange, Becker, Troy A., Hamdan, Fadi F., Kibar, Zoha, Sattler, Shannon G., Schneider, Michael C., Bitoun, Pierre, Chassaing, Nicolas, Rosenfeld, Jill A., Xia, Fan, Desai, Sonal, Roeder, Elizabeth, Kimonis, Virginia, Schneider, Adele, Littlejohn, Rebecca Okashah, Douzgou, Sofia, Tremblay, André, Michaud, Jacques L.
Published in Human mutation (01.08.2016)
Published in Human mutation (01.08.2016)
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Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants
Kagawa, Reiko, Fujiki, Ryoji, Tsumura, Miyuki, Sakata, Sonoko, Nishimura, Shiho, Itan, Yuval, Kong, Xiao-Fei, Kato, Zenichiro, Ohnishi, Hidenori, Hirata, Osamu, Saito, Satoshi, Ikeda, Maiko, El Baghdadi, Jamila, Bousfiha, Aziz, Fujiwara, Kaori, Oleastro, Matias, Yancoski, Judith, Perez, Laura, Danielian, Silvia, Ailal, Fatima, Takada, Hidetoshi, Hara, Toshiro, Puel, Anne, Boisson-Dupuis, Stéphanie, Bustamante, Jacinta, Casanova, Jean-Laurent, Ohara, Osamu, Okada, Satoshi, Kobayashi, Masao
Published in Journal of allergy and clinical immunology (01.07.2017)
Published in Journal of allergy and clinical immunology (01.07.2017)
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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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Two haplotypes of the P2X₇ receptor containing the Ala-348 to Thr polymorphism exhibit a gain-of-function effect and enhanced interleukin-1β secretion
Stokes, Leanne, Fuller, Stephen J, Sluyter, Ronald, Skarratt, Kristen K, Gu, Ben J, Wiley, James S
Published in The FASEB journal (01.08.2010)
Published in The FASEB journal (01.08.2010)
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De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene
Chemin, Jean, Siquier-Pernet, Karine, Nicouleau, Michaël, Barcia, Giulia, Ahmad, Ali, Medina-Cano, Daniel, Hanein, Sylvain, Altin, Nami, Hubert, Laurence, Bole-Feysot, Christine, Fourage, Cécile, Nitschké, Patrick, Thevenon, Julien, Rio, Marlène, Blanc, Pierre, vidal, Céline, Bahi-Buisson, Nadia, Desguerre, Isabelle, Munnich, Arnold, Lyonnet, Stanislas, Boddaert, Nathalie, Fassi, Emily, Shinawi, Marwan, Zimmerman, Holly, Amiel, Jeanne, Faivre, Laurence, Colleaux, Laurence, Lory, Philippe, Cantagrel, Vincent
Published in Brain (London, England : 1878) (01.07.2018)
Published in Brain (London, England : 1878) (01.07.2018)
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Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome
Bauer, Christiane K., Schneeberger, Pauline E., Kortüm, Fanny, Altmüller, Janine, Santos-Simarro, Fernando, Baker, Laura, Keller-Ramey, Jennifer, White, Susan M., Campeau, Philippe M., Gripp, Karen W., Kutsche, Kerstin
Published in American journal of human genetics (06.06.2019)
Published in American journal of human genetics (06.06.2019)
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Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
Pandit, Bhaswati, Sarkozy, Anna, Pennacchio, Len A, Carta, Claudio, Oishi, Kimihiko, Martinelli, Simone, Pogna, Edgar A, Schackwitz, Wendy, Ustaszewska, Anna, Landstrom, Andrew, Bos, J Martijn, Ommen, Steve R, Esposito, Giorgia, Lepri, Francesca, Faul, Christian, Mundel, Peter, López Siguero, Juan P, Tenconi, Romano, Selicorni, Angelo, Rossi, Cesare, Mazzanti, Laura, Torrente, Isabella, Marino, Bruno, Digilio, Maria C, Zampino, Giuseppe, Ackerman, Michael J, Dallapiccola, Bruno, Tartaglia, Marco, Gelb, Bruce D
Published in Nature genetics (01.08.2007)
Published in Nature genetics (01.08.2007)
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X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3
Sun, Jia-Hui, Chen, Jiang, Ayala Valenzuela, Fernando Eduardo, Brown, Carolyn, Masser-Frye, Diane, Jones, Marilyn, Romero, Leslie Patron, Rinaldi, Berardo, Li, Wenhui Laura, Li, Qing-Qing, Wu, Dan, Gerard, Benedicte, Thorpe, Erin, Bayat, Allan, Shi, Yun Stone
Published in PLoS genetics (23.06.2021)
Published in PLoS genetics (23.06.2021)
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A gain of function variant in RGS18 candidate for a familial mild bleeding syndrome
Vayne, Caroline, Roux, Maguelonne, Gruel, Yves, Poggi, Marjorie, Pouplard, Claire, Peiretti, Franck, Trégouët, David-Alexandre, Nurden, Paquita, Alessi, Marie-Christine
Published in Journal of thrombosis and haemostasis (01.01.2025)
Published in Journal of thrombosis and haemostasis (01.01.2025)
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Gene–Dose Effect of MEFV Gain-of-Function Mutations Determines ex vivo Neutrophil Activation in Familial Mediterranean Fever
Stoler, Iris, Freytag, Judith, Orak, Banu, Unterwalder, Nadine, Henning, Stephan, Heim, Katrin, von Bernuth, Horst, Krüger, Renate, Winkler, Stefan, Eschenhagen, Patience, Seipelt, Eva, Mall, Marcus A., Foell, Dirk, Kessel, Christoph, Wittkowski, Helmut, Kallinich, Tilmann
Published in Frontiers in immunology (11.06.2020)
Published in Frontiers in immunology (11.06.2020)
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The singular French PCSK9-p.Ser127Arg gain-of-function variant: A significant player in cholesterol levels from a 775-year-old common ancestor
Azar, Yara, Ludwig, Thomas E., Le Bon, Hugo, Strøm, Thea Bismo, Bluteau, Olivier, Di-Filippo, Mathilde, Carrié, Alain, Chtioui, Hedi, Béliard, Sophie, Marmontel, Oriane, Fonteille, Annie, Gebhart, Maite, Peretti, Noël, Moulin, Philippe, Ferrières, Jean, Pradignac, Alain, Farnier, Michel, Gallo, Antonio, Yelnik, Cécile, Blom, Dirk, Génin, Emmanuelle, Bogsrud, Martin Prøven, Leren, Trond P., Boileau, Catherine, Abifadel, Marianne, Rabès, Jean-Pierre, Varret, Mathilde
Published in Atherosclerosis (01.12.2024)
Published in Atherosclerosis (01.12.2024)
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