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Cytochrome P450 2C19 loss-of-function polymorphism is a major determinant of clopidogrel responsiveness in healthy subjects
Hulot, Jean-Sébastien, Bura, Alessandra, Villard, Eric, Azizi, Michel, Remones, Véronique, Goyenvalle, Catherine, Aiach, Martine, Lechat, Philippe, Gaussem, Pascale
Published in Blood (01.10.2006)
Published in Blood (01.10.2006)
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Journal Article
IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease
Cananzi, Mara, Wohler, Elizabeth, Marzollo, Antonio, Colavito, Davide, You, Jing, Jing, Huie, Bresolin, Silvia, Gaio, Paola, Martin, Renan, Mescoli, Claudia, Bade, Sangeeta, Posey, Jennifer E., Dalle Carbonare, Maurizio, Tung, Wesley, Jhangiani, Shalini N., Bosa, Luca, Zhang, Yu, Filho, Joselito Sobreira, Gabelli, Maria, Kellermayer, Richard, Kader, Howard A., Oliva-Hemker, Maria, Perilongo, Giorgio, Lupski, James R., Biffi, Alessandra, Valle, David, Leon, Alberta, de Macena Sobreira, Nara Lygia, Su, Helen C., Guerrerio, Anthony L.
Published in Human genetics (01.09.2021)
Published in Human genetics (01.09.2021)
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Journal Article
Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion
Trivellin, Giampaolo, Daly, Adrian F., Hernández-Ramírez, Laura C., Araldi, Elisa, Tatsi, Christina, Dale, Ryan K., Fridell, Gus, Mittal, Arjun, Faucz, Fabio R., Iben, James R., Li, Tianwei, Vitali, Eleonora, Stojilkovic, Stanko S., Kamenicky, Peter, Villa, Chiara, Baussart, Bertrand, Chittiboina, Prashant, Toro, Camilo, Gahl, William A., Eugster, Erica A., Naves, Luciana A., Jaffrain-Rea, Marie-Lise, de Herder, Wouter W., Neggers, Sebastian JCMM, Petrossians, Patrick, Beckers, Albert, Lania, Andrea G., Mains, Richard E., Eipper, Betty A., Stratakis, Constantine A.
Published in Frontiers in endocrinology (Lausanne) (14.06.2023)
Published in Frontiers in endocrinology (Lausanne) (14.06.2023)
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Journal Article
Web Resource
The loss-of-function PCSK9Q152H variant increases ER chaperones GRP78 and GRP94 and protects against liver injury
Lebeau, Paul F., Wassef, Hanny, Byun, Jae Hyun, Platko, Khrystyna, Ason, Brandon, Jackson, Simon, Dobroff, Joshua, Shetterly, Susan, Richards, William G., Al-Hashimi, Ali A., Won, Kevin Doyoon, Mbikay, Majambu, Prat, Annik, Tang, An, Paré, Guillaume, Pasqualini, Renata, Seidah, Nabil G., Arap, Wadih, Chrétien, Michel, Austin, Richard C.
Published in The Journal of clinical investigation (19.01.2021)
Published in The Journal of clinical investigation (19.01.2021)
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Journal Article
Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia
Kasak, Laura, Punab, Margus, Nagirnaja, Liina, Grigorova, Marina, Minajeva, Ave, Lopes, Alexandra M., Punab, Anna Maria, Aston, Kenneth I., Carvalho, Filipa, Laasik, Eve, Smith, Lee B., Conrad, Donald F., Laan, Maris
Published in American journal of human genetics (02.08.2018)
Published in American journal of human genetics (02.08.2018)
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Journal Article
Loss of function polymorphisms in SLCO1B1 (c.521T>C, rs4149056) and ABCG2 (c.421C>A, rs2231142) genes are associated with adverse events of rosuvastatin: a case–control study
Merćep, Iveta, Radman, Ivana, Trkulja, Vladimir, Božina, Tamara, Šimičević, Livija, Budimir, Ema, Ganoci, Lana, Božina, Nada
Published in European journal of clinical pharmacology (01.02.2022)
Published in European journal of clinical pharmacology (01.02.2022)
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Journal Article
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome
Efthymiou, Stephanie, Scala, Marcello, Nagaraj, Vini, Ochenkowska, Katarzyna, Komdeur, Fenne L, Liang, Robin A, Abdel-Hamid, Mohamed S, Sultan, Tipu, Barøy, Tuva, Van Ghelue, Marijke, Vona, Barbara, Maroofian, Reza, Zafar, Faisal, Alkuraya, Fowzan S, Zaki, Maha S, Severino, Mariasavina, Duru, Kingsley C, Tryon, Robert C, Brauteset, Lin Vigdis, Ansari, Morad, Hamilton, Mark, van Haelst, Mieke M, van Haaften, Gijs, Zara, Federico, Houlden, Henry, Samarut, Éric, Nichols, Colin G, Smeland, Marie F, McClenaghan, Conor
Published in Brain (London, England : 1878) (03.05.2024)
Published in Brain (London, England : 1878) (03.05.2024)
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Journal Article
Biallelic AOPEP Loss‐of‐Function Variants Cause Progressive Dystonia with Prominent Limb Involvement
Zech, Michael, Kumar, Kishore R., Reining, Sophie, Reunert, Janine, Tchan, Michel, Riley, Lisa G., Drew, Alexander P., Adam, Robert J., Berutti, Riccardo, Biskup, Saskia, Derive, Nicolas, Bakhtiari, Somayeh, Jin, Sheng Chih, Kruer, Michael C., Bardakjian, Tanya, Gonzalez‐Alegre, Pedro, Keller Sarmiento, Ignacio J., Mencacci, Niccolo E., Lubbe, Steven J., Kurian, Manju A., Clot, Fabienne, Méneret, Aurélie, Sainte Agathe, Jean‐Madeleine, Fung, Victor S.C., Vidailhet, Marie, Baumann, Matthias, Marquardt, Thorsten, Winkelmann, Juliane, Boesch, Sylvia
Published in Movement disorders (01.01.2022)
Published in Movement disorders (01.01.2022)
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Journal Article
Loss-of-Function Myeloperoxidase Mutations Are Associated with Increased Neutrophil Counts and Pustular Skin Disease
Vergnano, Marta, Mockenhaupt, Maja, Benzian-Olsson, Natashia, Paulmann, Maren, Grys, Katarzyna, Mahil, Satveer K., Chaloner, Charlotte, Barbosa, Ines A., August, Suzannah, Burden, A. David, Choon, Siew-Eng, Cooper, Hywel, Navarini, Alex A., Reynolds, Nick J., Wahie, Shyamal, Warren, Richard B., Wright, Andrew, Abraham, Thamir, Ali, Mahmud, August, Suzannah, Baudry, David, Bewley, Anthony, Cooper, Hywel, Griffiths, Christopher E.M., Ingram, John, Kelly, Susan, Korshid, Mohsen, Ladoyanni, Effie, McKenna, John, Meynell, Freya, Parslew, Richard, Patel, Prakash, Pushparajah, Angela, Reynolds, Nick, Smith, Catherine, Wahie, Shyamal, Warren, Richard, Wright, Andrew, Huffmeier, Ulrike, Baum, Patrick, Visvanathan, Sudha, Barker, Jonathan N., Smith, Catherine H., Capon, Francesca
Published in American journal of human genetics (03.09.2020)
Published in American journal of human genetics (03.09.2020)
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Journal Article
Loss of Function of GALNT2 Lowers High-Density Lipoproteins in Humans, Nonhuman Primates, and Rodents
Khetarpal, Sumeet A., Schjoldager, Katrine T., Christoffersen, Christina, Raghavan, Avanthi, Edmondson, Andrew C., Reutter, Heiko M., Ahmed, Bouhouche, Ouazzani, Reda, Peloso, Gina M., Vitali, Cecilia, Zhao, Wei, Somasundara, Amritha Varshini Hanasoge, Millar, John S., Park, YoSon, Fernando, Gayani, Livanov, Valentin, Choi, Seungbum, Noé, Eric, Patel, Pritesh, Ho, Siew Peng, Kirchgessner, Todd G., Wandall, Hans H., Hansen, Lars, Bennett, Eric P., Vakhrushev, Sergey Y., Saleheen, Danish, Kathiresan, Sekar, Brown, Christopher D., Abou Jamra, Rami, LeGuern, Eric, Clausen, Henrik, Rader, Daniel J.
Published in Cell metabolism (09.08.2016)
Published in Cell metabolism (09.08.2016)
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Journal Article
Loss-of-function mutation in GATA4 causes anomalies of human testicular development
Lourenço, Diana, Brauner, Raja, Rybczyńska, Magda, Nihoul-Fékété, Claire, McElreavey, Ken, Bashamboo, Anu
Published in Proceedings of the National Academy of Sciences - PNAS (25.01.2011)
Published in Proceedings of the National Academy of Sciences - PNAS (25.01.2011)
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Journal Article
Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked–like disorder caused by loss-of-function mutations in LRBA
Charbonnier, Louis-Marie, Janssen, Erin, Chou, Janet, Ohsumi, Toshiro K., Keles, Sevgi, Hsu, Joyce T., Massaad, Michel J., Garcia-Lloret, Maria, Hanna-Wakim, Rima, Dbaibo, Ghassan, Alangari, Abdullah A., Alsultan, Abdulrahman, Al-Zahrani, Daifulah, Geha, Raif S., Chatila, Talal A.
Published in Journal of allergy and clinical immunology (01.01.2015)
Published in Journal of allergy and clinical immunology (01.01.2015)
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Journal Article
Cytochrome P450 2C19 loss-of-function polymorphism and stent thrombosis following percutaneous coronary intervention
Sibbing, Dirk, Stegherr, Julia, Latz, Wolfgang, Koch, Werner, Mehilli, Julinda, Dörrler, Katharina, Morath, Tanja, Schömig, Albert, Kastrati, Adnan, von Beckerath, Nicolas
Published in European heart journal (01.04.2009)
Published in European heart journal (01.04.2009)
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Journal Article
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype
Motta, Marialetizia, Fasano, Giulia, Gredy, Sina, Brinkmann, Julia, Bonnard, Adeline Alice, Simsek-Kiper, Pelin Ozlem, Gulec, Elif Yilmaz, Essaddam, Leila, Utine, Gulen Eda, Guarnetti Prandi, Ingrid, Venditti, Martina, Pantaleoni, Francesca, Radio, Francesca Clementina, Ciolfi, Andrea, Petrini, Stefania, Consoli, Federica, Vignal, Cédric, Hepbasli, Denis, Ullrich, Melanie, de Boer, Elke, Vissers, Lisenka E.L.M., Gritli, Sami, Rossi, Cesare, De Luca, Alessandro, Ben Becher, Saayda, Gelb, Bruce D., Dallapiccola, Bruno, Lauri, Antonella, Chillemi, Giovanni, Schuh, Kai, Cavé, Hélène, Zenker, Martin, Tartaglia, Marco
Published in American journal of human genetics (04.11.2021)
Published in American journal of human genetics (04.11.2021)
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Journal Article
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling
Logan, Clare V, Szabadkai, György, Sharpe, Jenny A, Parry, David A, Torelli, Silvia, Childs, Anne-Marie, Kriek, Marjolein, Phadke, Rahul, Johnson, Colin A, Roberts, Nicola Y, Bonthron, David T, Pysden, Karen A, Whyte, Tamieka, Munteanu, Iulia, Foley, A Reghan, Wheway, Gabrielle, Szymanska, Katarzyna, Natarajan, Subaashini, Abdelhamed, Zakia A, Morgan, Joanne E, Roper, Helen, Santen, Gijs W E, Niks, Erik H, van der Pol, W Ludo, Lindhout, Dick, Raffaello, Anna, De Stefani, Diego, den Dunnen, Johan T, Sun, Yu, Ginjaar, Ieke, Sewry, Caroline A, Hurles, Matthew, Rizzuto, Rosario, Duchen, Michael R, Muntoni, Francesco, Sheridan, Eamonn
Published in Nature genetics (01.02.2014)
Published in Nature genetics (01.02.2014)
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Journal Article
Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans
Tuijnenburg, Paul, Jansen, Machiel H., Carss, Keren J., Baxendale, Helen, Chandra, Anita, Seneviratne, Suranjith L., Oksenhendler, Eric, Tool, Anton T.J., Whitehorn, Deborah, Turro, Ernest, Thaventhiran, James E., Kuijpers, Taco W., Adhya, Zoe, Anantharachagan, Ariharan, Arumugakani, Gururaj, Bacchelli, Chiara, Baxendale, Helen, Bibi, Shahnaz, Booth, Claire, Browning, Michael, Burns, Siobhan, Clifford, Hayley, Cooper, Nichola, Davies, Sophie, Devlin, Lisa, Edgar, David, Egner, William, Ghurye, Rohit, Gilmour, Kimberley, Goddard, Sarah, Gordins, Pavel, Hackett, Scott, Hague, Rosie, Hayman, Grant, Jolles, Stephen, Jones, Julie, Kelleher, Peter, Klein, Nigel, Kuijpers, Taco, Kumararatne, Dinakantha, Laffan, James, Lango Allen, Hana, Lear, Sara, Longhurst, Hilary, Maimaris, Jesmeen, McDermott, Elizabeth, Morrisson, Valerie, Nasir, Iman, Noorani, Sadia, Oksenhendler, Eric, Ponsford, Mark, Qasim, Waseem, Quinn, Ellen, Quinti, Isabella, Samarghitean, Crina, Savic, Sinisa, Seneviratne, Suranjith, Simeoni, Ilenia, Staples, Emily, Steele, Cathal, Thaventhiran, James, Thomas, Moira, Thrasher, Adrian, Worth, Austen, Yong, Patrick, Bradley, John, Hammerton, Tracey, Ouwehand, Willem, Raymond, F Lucy, Veltman, Marijke, Clements-Brod, Naomi, Davis, John, Dewhurst, Eleanor, Erwood, Marie, Frary, Amy, Linger, Rachel, Papadia, Sofia, Rehnstrom, Karola, Astle, William, Attwood, Antony, Bleda, Marta, Carss, Keren, Daugherty, Louise, Deevi, Sri, Graf, Stefan, Greene, Daniel, Halmagyi, Csaba, Matser, Vera, Meacham, Stuart, Megy, Karyn, Shamardina, Olga, Titterton, Catherine, Tuna, Salih, Turro, Ernest, von Ziegenweldt, Julie, Furnell, Abigail, Staines, Simon, Stephens, Jonathan, Whitehorn, Deborah, Watt, Christopher
Published in Journal of allergy and clinical immunology (01.10.2018)
Published in Journal of allergy and clinical immunology (01.10.2018)
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Journal Article