189 results on '"Corveleyn, Anniek"'
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2. Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome
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Delafontaine, Selket, Iannuzzo, Alberto, Bigley, Tarin M., Mylemans, Bram, Rana, Ruchit, Baatsen, Pieter, Poli, Maria Cecilia, Rymen, Daisy, Jansen, Katrien, Mekahli, Djalila, Casteels, Ingele, Cassiman, Catherine, Demaerel, Philippe, Lepelley, Alice, Fremond, Marie-Louise, Schrijvers, Rik, Vints, Xavier Bossuy Katlijn, Huybrechts, Wim, Tacine, Rachida, Willekens, Karen, Corveleyn, Anniek, Boeckx, Bram, Baggio, Marco, Ehlers, Lisa, Munck, Sebastian, Lambrechts, Diether, Moens, Arnout VoeLeen, Bucciol, Giorgia, Cooper, Megan A., Davis, Carla M., Delon, Jerome, and Meyts, Isabelle
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Interferon ,Family ,Autoimmunity ,B cells -- Genetic aspects ,Health care industry - Abstract
Mutations in the N-terminal WD40 domain of coatomer protein complex subunit a (COPA) cause a type I interferonopathy, typically characterized by alveolar hemorrhage, arthritis, and nephritis. We described 3 heterozygous mutations in the C-terminal domain (CTD) of COPA (p.C1013S, p.R1058C, and p.R1142X) in 6 children from 3 unrelated families with a similar syndrome of autoinflammation and autoimmunity. We showed that these CTD COPA mutations disrupt the integrity and the function of coat protein complex I (COPI). In [COPA.sup.R1142X] and [COPA.sup.R1058C] fibroblasts, we demonstrated that COPI dysfunction causes both an anterograde ER-to-Golgi and a retrograde Golgi-to-ER trafficking defect. The disturbed intracellular trafficking resulted in a cGAS/STING-dependent upregulation of the type I IFN signaling in patients and patient-derived cell lines, albeit through a distinct molecular mechanism in comparison with mutations in the WD40 domain of COPA. We showed that CTD COPA mutations induce an activation of ER stress and NF-[kappa]B signaling in patient-derived primary cell lines. These results demonstrate the importance of the integrity of the CTD of COPA for COPI function and homeostatic intracellular trafficking, essential to ER homeostasis. CTD COPA mutations result in disease by increased ER stress, disturbed intracellular transport, and increased proinflammatory signaling., Introduction The COPA gene encodes coatomer protein complex subunit [alpha] (COPA) (1). COPA was described in 1991 as a coat subunit of Golgi derived non-clathrin-coated vesicles, later termed 'coatomer' (2, [...]
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- 2024
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3. Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
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Savige, Judy, Storey, Helen, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Renieri, Alessandra, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabeth, Bierzynska, Agnieszka, Gangemi, Concetta, and Lipska-Ziętkiewicz, Beata S.
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- 2024
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4. A Novel Kindred with MyD88 Deficiency
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Bucciol, Giorgia, Moens, Leen, Corveleyn, Anniek, Dreesman, Alexandra, and Meyts, Isabelle
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- 2022
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5. Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility
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Barc, Julien, Tadros, Rafik, Glinge, Charlotte, Chiang, David Y., Jouni, Mariam, Simonet, Floriane, Jurgens, Sean J., Baudic, Manon, Nicastro, Michele, Potet, Franck, Offerhaus, Joost A., Walsh, Roddy, Choi, Seung Hoan, Verkerk, Arie O., Mizusawa, Yuka, Anys, Soraya, Minois, Damien, Arnaud, Marine, Duchateau, Josselin, Wijeyeratne, Yanushi D., Muir, Alison, Papadakis, Michael, Castelletti, Silvia, Torchio, Margherita, Ortuño, Cristina Gil, Lacunza, Javier, Giachino, Daniela F., Cerrato, Natascia, Martins, Raphaël P., Campuzano, Oscar, Van Dooren, Sonia, Thollet, Aurélie, Kyndt, Florence, Mazzanti, Andrea, Clémenty, Nicolas, Bisson, Arnaud, Corveleyn, Anniek, Stallmeyer, Birgit, Dittmann, Sven, Saenen, Johan, Noël, Antoine, Honarbakhsh, Shohreh, Rudic, Boris, Marzak, Halim, Rowe, Matthew K., Federspiel, Claire, Le Page, Sophie, Placide, Leslie, Milhem, Antoine, Barajas-Martinez, Hector, Beckmann, Britt-Maria, Krapels, Ingrid P., Steinfurt, Johannes, Winkel, Bo Gregers, Jabbari, Reza, Shoemaker, Moore B., Boukens, Bas J., Škorić-Milosavljević, Doris, Bikker, Hennie, Manevy, Federico C., Lichtner, Peter, Ribasés, Marta, Meitinger, Thomas, Müller-Nurasyid, Martina, Veldink, Jan H., van den Berg, Leonard H., Van Damme, Philip, Cusi, Daniele, Lanzani, Chiara, Rigade, Sidwell, Charpentier, Eric, Baron, Estelle, Bonnaud, Stéphanie, Lecointe, Simon, Donnart, Audrey, Le Marec, Hervé, Chatel, Stéphanie, Karakachoff, Matilde, Bézieau, Stéphane, London, Barry, Tfelt-Hansen, Jacob, Roden, Dan, Odening, Katja E., Cerrone, Marina, Chinitz, Larry A., Volders, Paul G., van de Berg, Maarten P., Laurent, Gabriel, Faivre, Laurence, Antzelevitch, Charles, Kääb, Stefan, Arnaout, Alain Al, Dupuis, Jean-Marc, Pasquie, Jean-Luc, Billon, Olivier, Roberts, Jason D., Jesel, Laurence, Borggrefe, Martin, Lambiase, Pier D., Mansourati, Jacques, Loeys, Bart, Leenhardt, Antoine, Guicheney, Pascale, Maury, Philippe, Schulze-Bahr, Eric, Robyns, Tomas, Breckpot, Jeroen, Babuty, Dominique, Priori, Silvia G., Napolitano, Carlo, de Asmundis, Carlo, Brugada, Pedro, Brugada, Ramon, Arbelo, Elena, Brugada, Josep, Mabo, Philippe, Behar, Nathalie, Giustetto, Carla, Molina, Maria Sabater, Gimeno, Juan R., Hasdemir, Can, Schwartz, Peter J., Crotti, Lia, McKeown, Pascal P., Sharma, Sanjay, Behr, Elijah R., Haissaguerre, Michel, Sacher, Frédéric, Rooryck, Caroline, Tan, Hanno L., Remme, Carol A., Postema, Pieter G., Delmar, Mario, Ellinor, Patrick T., Lubitz, Steven A., Gourraud, Jean-Baptiste, Tanck, Michael W., George, Jr., Alfred L., MacRae, Calum A., Burridge, Paul W., Dina, Christian, Probst, Vincent, Wilde, Arthur A., Schott, Jean-Jacques, Redon, Richard, and Bezzina, Connie R.
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- 2022
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6. Pathogenic P554S Variant in TLR3 in a Patient with Severe Influenza Pneumonia
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Bucciol, Giorgia, Desmet, Lars, Corveleyn, Anniek, and Meyts, Isabelle
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- 2022
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7. Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
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Savige, Judy, Storey, Helen, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Renieri, Alessandra, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabeth, Bierzynska, Agnieszka, Gangemi, Concetta, and Lipska-Ziętkiewicz, Beata S.
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- 2021
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8. Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria(European Journal of Human Genetics, (2021), 29, 8, (1186-1197), 10.1038/s41431-021-00858-1)
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Genetica Klinische Genetica, Cancer, Child Health, Savige, Judy, Storey, Helen, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Renieri, Alessandra, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabeth, Bierzynska, Agnieszka, Gangemi, Concetta, Lipska-Ziętkiewicz, Beata S., Genetica Klinische Genetica, Cancer, Child Health, Savige, Judy, Storey, Helen, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Renieri, Alessandra, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabeth, Bierzynska, Agnieszka, Gangemi, Concetta, and Lipska-Ziętkiewicz, Beata S.
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- 2024
9. Next-generation sequencing in prenatal setting: Some examples of unexpected variant association
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Rinaldi, Berardo, Race, Valerie, Corveleyn, Anniek, Van Hoof, Evelien, Bauters, Marijke, Van Den Bogaert, Kris, Denayer, Ellen, de Ravel, Thomy, Legius, Eric, Baldewijns, Marcella, Aertsen, Michael, Lewi, Liesbeth, De Catte, Luc, Breckpot, Jeroen, and Devriendt, Koenraad
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- 2020
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10. Clinical and ECG variables to predict the outcome of genetic testing in hypertrophic cardiomyopathy
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Robyns, Tomas, Breckpot, Jeroen, Nuyens, Dieter, Vandenberk, Bert, Corveleyn, Anniek, Kuiperi, Cuno, Van Aelst, Lucas, Van Cleemput, Johan, and Willems, Rik
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- 2020
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11. BCAP31-related syndrome: The first de novo report
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Rinaldi, Berardo, Van Hoof, Evelien, Corveleyn, Anniek, Van Cauter, Annick, and de Ravel, Thomy
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- 2020
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12. Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype
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Blommaert, Eline, Péanne, Romain, Cherepanova, Natalia A., Rymen, Daisy, Staels, Frederik, Jaeken, Jaak, Race, Valérie, Keldermans, Liesbeth, Souche, Erika, Corveleyn, Anniek, Sparkes, Rebecca, Bhattacharya, Kaustuv, Devalck, Christine, Schrijvers, Rik, Foulquier, François, Gilmore, Reid, and Matthijs, Gert
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- 2019
13. Pathogenic TLR3 Variant in a Patient with Recurrent Herpes Simplex Virus 1–Triggered Erythema Multiforme
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Bucciol, Giorgia, Delafontaine, Selket, Moens, Leen, Corveleyn, Anniek, Morren, Marie-Anne, and Meyts, Isabelle
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- 2021
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14. Screening of first-degree relatives of IPF patients with a telomere-related gene mutation
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Goos, Tinne, primary, Veyt, Nathalie, additional, Van Hoof, Evelien, additional, Rosier, Karen, additional, Gogaert, Stefan, additional, Vermant, Marie, additional, Willems, Lynn, additional, Staels, Frederik, additional, Van Raemdonck, Ilse, additional, Thierie, Sam, additional, Cortesi, Emanuela Elsa, additional, De Sadeleer, Laurens J, additional, Yserbyt, Jonas, additional, De Crem, Nico, additional, Jacob, Joseph, additional, Carlon, Marianne S, additional, Verschakelen, Johny, additional, Dubbeldam, Adriana, additional, Corveleyn, Anniek, additional, Verleden, Stijn E, additional, Vermeer, Sascha, additional, and Wuyts, Wim A, additional
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- 2023
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15. Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility
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Barc, Julien, Tadros, Rafik, Glinge, Charlotte, Chiang, David Y., Jouni, Mariam, Simonet, Floriane, Jurgens, Sean J., Baudic, Manon, Nicastro, Michele, Potet, Franck, Offerhaus, Joost A., Walsh, Roddy, Choi, Seung Hoan, Verkerk, Arie O., Mizusawa, Yuka, Anys, Soraya, Minois, Damien, Arnaud, Marine, Duchateau, Josselin, Wijeyeratne, Yanushi D., Muir, Alison, Papadakis, Michael, Castelletti, Silvia, Torchio, Margherita, Ortuño, Cristina Gil, Lacunza, Javier, Giachino, Daniela F., Cerrato, Natascia, Martins, Raphaël P., Campuzano, Oscar, Van Dooren, Sonia, Thollet, Aurélie, Kyndt, Florence, Mazzanti, Andrea, Clémenty, Nicolas, Bisson, Arnaud, Corveleyn, Anniek, Stallmeyer, Birgit, Dittmann, Sven, Saenen, Johan, Noël, Antoine, Honarbakhsh, Shohreh, Rudic, Boris, Marzak, Halim, Rowe, Matthew K., Federspiel, Claire, Le Page, Sophie, Placide, Leslie, Milhem, Antoine, Barajas-Martinez, Hector, Beckmann, Britt-Maria, Krapels, Ingrid P., Steinfurt, Johannes, Winkel, Bo Gregers, Jabbari, Reza, Shoemaker, Moore B., Boukens, Bas J., Škorić-Milosavljević, Doris, Bikker, Hennie, Manevy, Federico, Lichtner, Peter, Ribasés, Marta, Meitinger, Thomas, Müller-Nurasyid, Martina, Veldink, Jan H., van den Berg, Leonard H., Van Damme, Philip, Cusi, Daniele, Lanzani, Chiara, Rigade, Sidwell, Charpentier, Eric, Baron, Estelle, Bonnaud, Stéphanie, Lecointe, Simon, Donnart, Audrey, Le Marec, Hervé, Chatel, Stéphanie, Karakachoff, Matilde, Bézieau, Stéphane, London, Barry, Tfelt-Hansen, Jacob, Roden, Dan, Odening, Katja E., Cerrone, Marina, Chinitz, Larry A., Volders, Paul G., van de Berg, Maarten P., Laurent, Gabriel, Faivre, Laurence, Antzelevitch, Charles, Kääb, Stefan, Arnaout, Alain Al, Dupuis, Jean-Marc, Pasquie, Jean-Luc, Billon, Olivier, Roberts, Jason D., Jesel, Laurence, Borggrefe, Martin, Lambiase, Pier D., Mansourati, Jacques, Loeys, Bart, Leenhardt, Antoine, Guicheney, Pascale, Maury, Philippe, Schulze-Bahr, Eric, Robyns, Tomas, Breckpot, Jeroen, Babuty, Dominique, Priori, Silvia G., Napolitano, Carlo, de Asmundis, Carlo, Brugada, Pedro, Brugada, Ramon, Arbelo, Elena, Brugada, Josep, Mabo, Philippe, Behar, Nathalie, Giustetto, Carla, Molina, Maria Sabater, Gimeno, Juan R., Hasdemir, Can, Schwartz, Peter J., Crotti, Lia, McKeown, Pascal P., Sharma, Sanjay, Behr, Elijah R., Haissaguerre, Michel, Sacher, Frédéric, Rooryck, Caroline, Tan, Hanno L., Remme, Carol A., Postema, Pieter G., Delmar, Mario, Ellinor, Patrick T., Lubitz, Steven A., Gourraud, Jean-Baptiste, Tanck, Michael W., George, Jr., Alfred L., MacRae, Calum A., Burridge, Paul W., Dina, Christian, Probst, Vincent, Wilde, Arthur A., Schott, Jean-Jacques, Redon, Richard, and Bezzina, Connie R.
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- 2022
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16. Left ventricular non-compaction with Ebstein anomaly attributed to a TPM1 mutation
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Nijak, Aleksandra, Alaerts, Maaike, Kuiperi, Cuno, Corveleyn, Anniek, Suys, Bert, Paelinck, Bernard, Saenen, Johan, Van Craenenbroeck, Emeline, Van Laer, Lut, Loeys, Bart, and Verstraeten, Aline
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- 2018
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17. Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction
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Moens, Leen, Gouwy, Mieke, Bosch, Barbara, Pastukhov, Oleksandr, Nieto-Patlàn, Alejandro, Siler, Ulrich, Bucciol, Giorgia, Mekahli, Djalila, Vermeulen, François, Desmet, Lars, Maebe, Sophie, Flipts, Helena, Corveleyn, Anniek, Moshous, Despina, Philippet, Pierre, Tangye, Stuart G., Boisson, Bertrand, Casanova, Jean-Laurent, Florkin, Benoit, Struyf, Sofie, Reichenbach, Janine, Bustamante, Jacinta, Notarangelo, Luigi D., and Meyts, Isabelle
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- 2019
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18. Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability
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Verheije, Rosalind, Kupchik, Gabriel S., Isidor, Bertrand, Kroes, Hester Y., Lynch, Sally Ann, Hawkes, Lara, Hempel, Maja, Gelb, Bruce D., Ghoumid, Jamal, D’Amours, Guylaine, Chandler, Kate, Dubourg, Christèle, Loddo, Sara, Tümer, Zeynep, Shaw-Smith, Charles, Nizon, Mathilde, Shevell, Michael, Van Hoof, Evelien, Anyane-Yeboa, Kwame, Cerbone, Gaetana, Clayton-Smith, Jill, Cogné, Benjamin, Corre, Pierre, Corveleyn, Anniek, De Borre, Marie, Hjortshøj, Tina Duelund, Fradin, Mélanie, Gewillig, Marc, Goldmuntz, Elizabeth, Hens, Greet, Lemyre, Emmanuelle, Journel, Hubert, Kini, Usha, Kortüm, Fanny, Le Caignec, Cedric, Novelli, Antonio, Odent, Sylvie, Petit, Florence, Revah-Politi, Anya, Stong, Nicholas, Strom, Tim M., van Binsbergen, Ellen, DDD study, Devriendt, Koenraad, and Breckpot, Jeroen
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- 2019
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19. TET2-Driver and NLRC4-Passenger Variants in Adult-Onset Autoinflammation
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De Langhe, Ellen, primary, Van Loo, Sien, additional, Malengier-Devlies, Bert, additional, Metzemaekers, Mieke, additional, Staels, Frederik, additional, Vandenhaute, Jessica, additional, Berghen, Nathalie, additional, Sciot, Raf, additional, Corveleyn, Anniek, additional, Tšuiko, Olga, additional, Gouwy, Mieke, additional, Lenaerts, Jan, additional, Verschueren, Patrick, additional, Wouters, Carine H., additional, Proost, Paul, additional, Matthys, Patrick, additional, Legius, Eric, additional, and Schrijvers, Rik, additional
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- 2023
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20. Clinical application of multigene panel testing for bleeding, thrombotic, and platelet disorders: a 3-year Belgian experience
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Van Laer, Christine, primary, Jacquemin, Marc, additional, Baert, Sarissa, additional, Labarque, Veerle, additional, Thys, Chantal, additional, Vanassche, Thomas, additional, Van Geet, Chris, additional, Verhamme, Peter, additional, Willekens, Karen, additional, Corveleyn, Anniek, additional, Peerlinck, Kathelijne, additional, and Freson, Kathleen, additional
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- 2023
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21. Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy
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Robyns, Tomas, Kuiperi, Cuno, Breckpot, Jeroen, Devriendt, Koenraad, Souche, Erika, Van Cleemput, Johan, Willems, Rik, Nuyens, Dieter, Matthijs, Gert, and Corveleyn, Anniek
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- 2017
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22. Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
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Savige, Judy, primary, Storey, Helen, additional, Watson, Elizabeth, additional, Hertz, Jens Michael, additional, Deltas, Constantinos, additional, Renieri, Alessandra, additional, Mari, Francesca, additional, Hilbert, Pascale, additional, Plevova, Pavlina, additional, Byers, Peter, additional, Cerkauskaite, Agne, additional, Gregory, Martin, additional, Cerkauskiene, Rimante, additional, Ljubanovic, Danica Galesic, additional, Becherucci, Francesca, additional, Errichiello, Carmela, additional, Massella, Laura, additional, Aiello, Valeria, additional, Lennon, Rachel, additional, Hopkinson, Louise, additional, Koziell, Ania, additional, Lungu, Adrian, additional, Rothe, Hansjorg Martin, additional, Hoefele, Julia, additional, Zacchia, Miriam, additional, Martic, Tamara Nikuseva, additional, Gupta, Asheeta, additional, van Eerde, Albertien, additional, Gear, Susie, additional, Landini, Samuela, additional, Palazzo, Viviana, additional, al-Rabadi, Laith, additional, Claes, Kathleen, additional, Corveleyn, Anniek, additional, Van Hoof, Evelien, additional, van Geel, Micheel, additional, Williams, Maggie, additional, Ashton, Emma, additional, Belge, Hendica, additional, Ars, Elisabeth, additional, Bierzynska, Agnieszka, additional, Gangemi, Concetta, additional, and Lipska-Ziętkiewicz, Beata S., additional
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- 2023
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23. Common variable immunodeficiency in two kindreds with heterogeneous phenotypes caused by novel heterozygous NFKB1 mutations
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Staels, Frederik, primary, De Keukeleere, Kerstin, additional, Kinnunen, Matias, additional, Keskitalo, Salla, additional, Lorenzetti, Flaminia, additional, Vanmeert, Michiel, additional, Prezzemolo, Teresa, additional, Pasciuto, Emanuela, additional, Lescrinier, Eveline, additional, Bossuyt, Xavier, additional, Gerbaux, Margaux, additional, Willemsen, Mathijs, additional, Neumann, Julika, additional, Van Loo, Sien, additional, Corveleyn, Anniek, additional, Willekens, Karen, additional, Stalmans, Ingeborg, additional, Meyts, Isabelle, additional, Liston, Adrian, additional, Humblet-Baron, Stephanie, additional, Seppänen, Mikko, additional, Varjosalo, Markku, additional, and Schrijvers, Rik, additional
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- 2022
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24. Child Neurology: Familial Hemophagocytic Lymphohistiocytosis Underlying Isolated CNS Inflammation
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Bucciol, Giorgia, primary, Willemyns, Nele, additional, Verhaaren, Benjamin, additional, Bossuyt, Xavier, additional, Lagrou, Katrien, additional, Corveleyn, Anniek, additional, Moshous, Despina, additional, Jansen, Katrien, additional, De Waele, Liesbeth, additional, and Meyts, Isabelle, additional
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- 2022
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25. Belgian guidelines for the frequency of participation of the Medical Centers of Human Genetics to External Quality Assessment schemes for analyses focused on rare diseases
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Lantoine, Joséphine, Brysse, Anne, Dideberg, Vinciane, Claes, Kathleen B. M., Symoens, Sofie, Coucke, Wim, Benoit, Valérie, Rombout, Sonia, De Rycke, Martine, Seneca, Sara, Van Laer, Lut, Wuyts, Wim, Corveleyn, Anniek, Van den Bogaert, Kris, Rydlewski, Catherine, Wilkin, Françoise, Ravoet, Marie, Fastré, Elodie, Capron, Arnaud, Vandevelde, Nathalie M., Basic (bio-) Medical Sciences, Medical Genetics, Reproduction and Genetics, and Clinical sciences
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- 2022
26. Guidelines for Genetic Testing and Management of Alport Syndrome
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Genetica Klinische Genetica, Child Health, Cancer, Savige, Judy, Lipska-Zietkiewicz, Beata S, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, Al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabet, Bierzynska, Agnieszka, Gangemi, Concetta, Renieri, Alessandra, Storey, Helen, Flinter, Frances, Genetica Klinische Genetica, Child Health, Cancer, Savige, Judy, Lipska-Zietkiewicz, Beata S, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, Al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabet, Bierzynska, Agnieszka, Gangemi, Concetta, Renieri, Alessandra, Storey, Helen, and Flinter, Frances
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- 2022
27. Terminal Complement Pathway Deficiency in an Adult Patient with Meningococcal Sepsis
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Staels, Frederik, Meersseman, Wouter, Stordeur, Patrick, Willekens, Karen, Van Loo, Sien, Corveleyn, Anniek, Meyts, Isabelle, Meyfroidt, G., Schrijvers, Rik, Staels, Frederik, Meersseman, Wouter, Stordeur, Patrick, Willekens, Karen, Van Loo, Sien, Corveleyn, Anniek, Meyts, Isabelle, Meyfroidt, G., and Schrijvers, Rik
- Abstract
The complement system is an essential part of our innate immune system. Three enzymatic activation pathways are described, all converging into a common terminal pathway which causes lysis of the target cell. Late complement deficiencies (LCDs) are typically diagnosed in children or adolescents with invasive meningococcal disease (IMD). However, IMD can also be a first manifestation in adulthood and should prompt for the evaluation of the LCD. We report the case of a young adult with IMD who was found to have a LCD, caused by a compound heterozygous mutation in C6. His vaccination status was optimized and prophylactic antibiotic treatment was initiated. By means of this case, we would like to raise awareness of underlying LCD in (young) adults presenting with IMD by N. meningitidis. Screening for complement deficiencies after IMD, followed by genetic testing, can be lifesaving and allows for genetic counselling. In addition, we discuss the diagnosis and treatment of LCD., SCOPUS: ar.j, info:eu-repo/semantics/published
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- 2022
28. PID in Disguise: Molecular Diagnosis of IRAK-4 Deficiency in an Adult Previously Misdiagnosed With Autosomal Dominant Hyper IgE Syndrome
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Frans, Glynis, Moens, Leen, Schrijvers, Rik, Wuyts, Greet, Bouckaert, Bernard, Schaballie, Heidi, Dupont, Lieven, Bossuyt, Xavier, Corveleyn, Anniek, and Meyts, Isabelle
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- 2015
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29. Delayed presentations of severe combined immunodeficiency during the SARS‑CoV‑2 pandemic
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Hoste, Levi, Bucciol, Giorgia, Corveleyn, Anniek, Cornelis, Stijn, Bordon, Victoria, de Jaeger, Annik, Schaballie, Heidi, Deolet, Ellen, Van Dorpe, Jo, Strubbe, Gregory, Padalko, Elizaveta, Roukaerts, Inge, Desmet, Lars, Moens, Leen, Bossuyt, Xavier, Haerynck, Filomeen, and Meyts, Isabelle
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Medicine and Health Sciences - Abstract
Background and Aims Severe combined immunodeficiency (SCID) is characterized by severe T lymphocyte dysfunction and variable B/NK cell abnormalities. With extreme susceptibility for infection, SCID usually evolves fatal in the first months in the absence of treatment.. For multiple infectious diseases, epidemiological dynamics were altered during the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic. Methods We describe two SCID patients with delayed onset of symptoms during the SARS-CoV-2 pandemic. Results P1, a boy, presents with first symptoms of respiratory tract infection at age of 14 months. P2, another boy, presented lower respiratory tract infection and gastroenteritis at 8 months. Previously, both patients had remained free from severe infections, failure-to-thrive or developmental delay. Daycare attendance was postponed because of lockdown measures. Absent thymic shadows prompted further investigations in both instances. Lymphopenia with a T-B+NK+ (P1) and T-B-NK+ (P2) phenotype was found. Pulmonary infection with vaccine-strain measles and parainfluenza (P1) and disseminated adenovirus infection (P2) was documented. Despite broad antimicrobial treatment (including ribavirin (P1) and cidofovir (P2)) respiratory disease progressed. Cardiogenic shock (P1) and hemophagocytic syndrome (P2) developed. Ultimately, multiple organ failure resulted in fatal outcome in both. Genetic testing revealed a homozygous c150_153del in IL7R (P1) and compound heterozygous c.442dupG and c.241C>T in DCLRE1C (P2). Conclusions We describe two patients with SCID, yet late presentation. Their exposure to infection could have been diminished because of reduced microbial transmission during the pandemic. Clinicians should be aware of delayed presentations of severe immune disorders during a global sanitary crisis.
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- 2022
30. Guidelines for Genetic Testing and Management of Alport Syndrome
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Savige, Judy, primary, Lipska-Zietkiewicz, Beata S., additional, Watson, Elizabeth, additional, Hertz, Jens Michael, additional, Deltas, Constantinos, additional, Mari, Francesca, additional, Hilbert, Pascale, additional, Plevova, Pavlina, additional, Byers, Peter, additional, Cerkauskaite, Agne, additional, Gregory, Martin, additional, Cerkauskiene, Rimante, additional, Ljubanovic, Danica Galesic, additional, Becherucci, Francesca, additional, Errichiello, Carmela, additional, Massella, Laura, additional, Aiello, Valeria, additional, Lennon, Rachel, additional, Hopkinson, Louise, additional, Koziell, Ania, additional, Lungu, Adrian, additional, Rothe, Hansjorg Martin, additional, Hoefele, Julia, additional, Zacchia, Miriam, additional, Martic, Tamara Nikuseva, additional, Gupta, Asheeta, additional, van Eerde, Albertien, additional, Gear, Susie, additional, Landini, Samuela, additional, Palazzo, Viviana, additional, al-Rabadi, Laith, additional, Claes, Kathleen, additional, Corveleyn, Anniek, additional, Van Hoof, Evelien, additional, van Geel, Micheel, additional, Williams, Maggie, additional, Ashton, Emma, additional, Belge, Hendica, additional, Ars, Elisabet, additional, Bierzynska, Agnieszka, additional, Gangemi, Concetta, additional, Renieri, Alessandra, additional, Storey, Helen, additional, and Flinter, Frances, additional
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- 2022
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31. The Diagnostic Value of Next Generation Sequencing in Familial Nonsyndromic Congenital Heart Defects
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Jia, Yaojuan, Louw, Jacoba J., Breckpot, Jeroen, Callewaert, Bert, Barrea, Catherine, Sznajer, Yves, Gewillig, Marc, Souche, Erika, Dehaspe, Luc, Vermeesch, Joris Robert, Lambrechts, Diether, Devriendt, Koenraad, and Corveleyn, Anniek
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- 2015
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32. Criteria for HNF1B analysis in patients with congenital abnormalities of kidney and urinary tract
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Raaijmakers, Anke, Corveleyn, Anniek, Devriendt, Koen, van Tienoven, Theun Pieter, Allegaert, Karel, Van Dyck, Mieke, van den Heuvel, Lambertus, Kuypers, Dirk, Claes, Kathleen, Mekahli, Djalila, and Levtchenko, Elena
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- 2015
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33. MEIS2 Involvement in Cardiac Development, Cleft Palate, and Intellectual Disability
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Louw, Jacoba J., Corveleyn, Anniek, Jia, Yaojuan, Hens, Greet, Gewillig, Marc, and Devriendt, Koenraad
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- 2015
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34. Child Neurology: Familial Hemophagocytic Lymphohistiocytosis Underlying Isolated Central Nervous System Inflammation.
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Bucciol, Giorgia, Willemyns, Nele, Verhaaren, Benjamin, Bossuyt, Xavier, Lagrou, Katrien, Corveleyn, Anniek, Moshous, Despina, Jansen, Katrien, De Waele, Liesbeth, and Meyts, Isabelle
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- 2022
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35. Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome
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Schaballie, Heidi, Renard, Marleen, Vermylen, Christiane, Scheers, Isabelle, Revencu, Nicole, Regal, Luc, Cassiman, David, Sevenants, Lieve, Hoffman, Ilse, Corveleyn, Anniek, Bordon, Victoria, Haerynck, Filomeen, Allegaert, Karel, De Boeck, Kris, Roskams, Tania, Boeckx, Nancy, Bossuyt, Xavier, and Meyts, Isabelle
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- 2013
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36. Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers
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Lantoine, Joséphine, primary, Brysse, Anne, additional, Dideberg, Vinciane, additional, Claes, Kathleen, additional, Symoens, Sofie, additional, Coucke, Wim, additional, Benoit, Valérie, additional, Rombout, Sonia, additional, De Rycke, Martine, additional, Seneca, Sara, additional, Van Laer, Lut, additional, Wuyts, Wim, additional, Corveleyn, Anniek, additional, Van Den Bogaert, Kris, additional, Rydlewski, Catherine, additional, Wilkin, Françoise, additional, Ravoet, Marie, additional, Fastré, Elodie, additional, Capron, Arnaud, additional, and Vandevelde, Nathalie Monique, additional
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- 2021
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37. Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
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Genetica Klinische Genetica, Cancer, Child Health, Savige, Judy, Storey, Helen, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Renieri, Alessandra, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabeth, Bierzynska, Agnieszka, Gangemi, Concetta, Lipska-Ziętkiewicz, Beata S., Genetica Klinische Genetica, Cancer, Child Health, Savige, Judy, Storey, Helen, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Renieri, Alessandra, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabeth, Bierzynska, Agnieszka, Gangemi, Concetta, and Lipska-Ziętkiewicz, Beata S.
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- 2021
38. Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls
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Walsh, Roddy, Lahrouchi, Najim, Tadros, Rafik, Kyndt, Florence, Glinge, Charlotte, Postema, Pieter G., Amin, Ahmad S., Nannenberg, Eline A., Ware, James S., Whiffin, Nicola, Mazzarotto, Francesco, Skoric-Milosavljevic, Doris, Krijger, Christian, Arbelo, Elena, Babuty, Dominique, Barajas-Martinez, Hector, Beckmann, Britt M., Bezieau, Stephane, Bos, J. Martijn, Breckpot, Jeroen, Campuzano, Oscar, Castelletti, Silvia, Celen, Candan, Clauss, Sebastian, Corveleyn, Anniek, Crotti, Lia, Dagradi, Federica, de Asmundis, Carlo, Denjoy, Isabelle, Dittmann, Sven, Ellinor, Patrick T., Ortuno, Cristina Gil, Giustetto, Carla, Gourraud, Jean-Baptiste, Hazeki, Daisuke, Horie, Minoru, Ishikawa, Taisuke, Itoh, Hideki, Kaneko, Yoshiaki, Kanters, Jorgen K., Kimoto, Hiroki, Kotta, Maria-Christina, Krapels, Ingrid P. C., Kurabayashi, Masahiko, Lazarte, Julieta, Leenhardt, Antoine, Loeys, Bart L., Lundin, Catarina, Makiyama, Takeru, Mansourati, Jacques, Martins, Raphael P., Mazzanti, Andrea, Mörner, Stellan, Napolitano, Carlo, Ohkubo, Kimie, Papadakis, Michael, Rudic, Boris, Molina, Maria Sabater, Sacher, Frederic, Sahin, Hatice, Sarquella-Brugada, Georgia, Sebastiano, Regina, Sharma, Sanjay, Sheppard, Mary N., Shimamoto, Keiko, Shoemaker, M. Benjamin, Stallmeyer, Birgit, Steinfurt, Johannes, Tanaka, Yuji, Tester, David J., Usuda, Keisuke, van der Zwaag, Paul A., Van Dooren, Sonia, Van Laer, Lut, Winbo, Annika, Winkel, Bo G., Yamagata, Kenichiro, Zumhagen, Sven, Volders, Paul G. A., Lubitz, Steven A., Antzelevitch, Charles, Platonov, Pyotr G., Odening, Katja E., Roden, Dan M., Roberts, Jason D., Skinner, Jonathan R., Tfelt-Hansen, Jacob, van den Berg, Maarten P., Olesen, Morten S., Lambiase, Pier D., Borggrefe, Martin, Hayashi, Kenshi, Rydberg, Annika, Nakajima, Tadashi, Yoshinaga, Masao, Saenen, Johan B., Kaeaeb, Stefan, Brugada, Pedro, Robyns, Tomas, Giachino, Daniela F., Ackerman, Michael J., Brugada, Ramon, Brugada, Josep, Gimeno, Juan R., Hasdemir, Can, Guicheney, Pascale, Priori, Silvia G., Schulze-Bahr, Eric, Makita, Naomasa, Schwartz, Peter J., Shimizu, Wataru, Aiba, Takeshi, Schott, Jean-Jacques, Redon, Richard, Ohno, Seiko, Probst, Vincent, Behr, Elijah R., Barc, Julien, Bezzina, Connie R., Walsh, Roddy, Lahrouchi, Najim, Tadros, Rafik, Kyndt, Florence, Glinge, Charlotte, Postema, Pieter G., Amin, Ahmad S., Nannenberg, Eline A., Ware, James S., Whiffin, Nicola, Mazzarotto, Francesco, Skoric-Milosavljevic, Doris, Krijger, Christian, Arbelo, Elena, Babuty, Dominique, Barajas-Martinez, Hector, Beckmann, Britt M., Bezieau, Stephane, Bos, J. Martijn, Breckpot, Jeroen, Campuzano, Oscar, Castelletti, Silvia, Celen, Candan, Clauss, Sebastian, Corveleyn, Anniek, Crotti, Lia, Dagradi, Federica, de Asmundis, Carlo, Denjoy, Isabelle, Dittmann, Sven, Ellinor, Patrick T., Ortuno, Cristina Gil, Giustetto, Carla, Gourraud, Jean-Baptiste, Hazeki, Daisuke, Horie, Minoru, Ishikawa, Taisuke, Itoh, Hideki, Kaneko, Yoshiaki, Kanters, Jorgen K., Kimoto, Hiroki, Kotta, Maria-Christina, Krapels, Ingrid P. C., Kurabayashi, Masahiko, Lazarte, Julieta, Leenhardt, Antoine, Loeys, Bart L., Lundin, Catarina, Makiyama, Takeru, Mansourati, Jacques, Martins, Raphael P., Mazzanti, Andrea, Mörner, Stellan, Napolitano, Carlo, Ohkubo, Kimie, Papadakis, Michael, Rudic, Boris, Molina, Maria Sabater, Sacher, Frederic, Sahin, Hatice, Sarquella-Brugada, Georgia, Sebastiano, Regina, Sharma, Sanjay, Sheppard, Mary N., Shimamoto, Keiko, Shoemaker, M. Benjamin, Stallmeyer, Birgit, Steinfurt, Johannes, Tanaka, Yuji, Tester, David J., Usuda, Keisuke, van der Zwaag, Paul A., Van Dooren, Sonia, Van Laer, Lut, Winbo, Annika, Winkel, Bo G., Yamagata, Kenichiro, Zumhagen, Sven, Volders, Paul G. A., Lubitz, Steven A., Antzelevitch, Charles, Platonov, Pyotr G., Odening, Katja E., Roden, Dan M., Roberts, Jason D., Skinner, Jonathan R., Tfelt-Hansen, Jacob, van den Berg, Maarten P., Olesen, Morten S., Lambiase, Pier D., Borggrefe, Martin, Hayashi, Kenshi, Rydberg, Annika, Nakajima, Tadashi, Yoshinaga, Masao, Saenen, Johan B., Kaeaeb, Stefan, Brugada, Pedro, Robyns, Tomas, Giachino, Daniela F., Ackerman, Michael J., Brugada, Ramon, Brugada, Josep, Gimeno, Juan R., Hasdemir, Can, Guicheney, Pascale, Priori, Silvia G., Schulze-Bahr, Eric, Makita, Naomasa, Schwartz, Peter J., Shimizu, Wataru, Aiba, Takeshi, Schott, Jean-Jacques, Redon, Richard, Ohno, Seiko, Probst, Vincent, Behr, Elijah R., Barc, Julien, and Bezzina, Connie R.
- Abstract
Purpose: Stringent variant interpretation guidelines can lead to high rates of variants of uncertain significance (VUS) for genetically heterogeneous disease like long QT syndrome (LQTS) and Brugada syndrome (BrS). Quantitative and disease-specific customization of American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines can address this false negative rate. Methods: We compared rare variant frequencies from 1847 LQTS (KCNQ1/KCNH2/SCN5A) and 3335 BrS (SCN5A) cases from the International LQTS/BrS Genetics Consortia to population-specific gnomAD data and developed disease-specific criteria for ACMG/AMP evidence classes-rarity (PM2/BS1 rules) and case enrichment of individual (PS4) and domain-specific (PM1) variants. Results: Rare SCN5A variant prevalence differed between European (20.8%) and Japanese (8.9%) BrS patients (p = 5.7 x 10(-18)) and diagnosis with spontaneous (28.7%) versus induced (15.8%) Brugada type 1 electrocardiogram (ECG) (p = 1.3 x 10(-13)). Ion channel transmembrane regions and specific N-terminus (KCNH2) and C-terminus (KCNQ1/KCNH2) domains were characterized by high enrichment of case variants and >95% probability of pathogenicity. Applying the customized rules, 17.4% of European BrS and 74.8% of European LQTS cases had (likely) pathogenic variants, compared with estimated diagnostic yields (case excess over gnomAD) of 19.2%/82.1%, reducing VUS prevalence to close to background rare variant frequency. Conclusion: Large case-control data sets enable quantitative implementation of ACMG/AMP guidelines and increased sensitivity for inherited arrhythmia genetic testing.
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- 2021
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39. Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers.
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UCL - SSS/DDUV/GEHU - Génétique, UCL - (SLuc) Centre de génétique médicale UCL, Lantoine, Joséphine, Brysse, Anne, Dideberg, Vinciane, Claes, Kathleen, Symoens, Sofie, Coucke, Wim, Benoit, Valérie, Rombout, Sonia, De Rycke, Martine, Seneca, Sara, Van Laer, Lut, Wuyts, Wim, Corveleyn, Anniek, Van Den Bogaert, Kris, Rydlewski, Catherine, Wilkin, Françoise, Ravoet, Marie, Fastré, Elodie, Capron, Arnaud, Vandevelde, Nathalie Monique, UCL - SSS/DDUV/GEHU - Génétique, UCL - (SLuc) Centre de génétique médicale UCL, Lantoine, Joséphine, Brysse, Anne, Dideberg, Vinciane, Claes, Kathleen, Symoens, Sofie, Coucke, Wim, Benoit, Valérie, Rombout, Sonia, De Rycke, Martine, Seneca, Sara, Van Laer, Lut, Wuyts, Wim, Corveleyn, Anniek, Van Den Bogaert, Kris, Rydlewski, Catherine, Wilkin, Françoise, Ravoet, Marie, Fastré, Elodie, Capron, Arnaud, and Vandevelde, Nathalie Monique
- Abstract
BACKGROUND: Participation in quality controls, also called external quality assessment (EQA) schemes, is required for the ISO15189 accreditation of the Medical Centers of Human Genetics. However, directives on the minimal frequency of participation in genetic quality control schemes are lacking or too heterogeneous, with a possible impact on health care quality. OBJECTIVE: The aim of this project is to develop Belgian guidelines on the frequency of participation in quality controls for genetic testing in the context of rare diseases. METHODS: A group of experts analyzed 90 EQA schemes offered by accredited providers and focused on analyses used for the diagnosis of rare diseases. On that basis, the experts developed practical recommendations about the minimal frequencies of participation of the Medical Centers of Human Genetics in quality controls and how to deal with poor performances and change management. These guidelines were submitted to the Belgian Accreditation Body and then reviewed and approved by the Belgian College of Human Genetics and Rare Diseases and by the National Institute for Health and Disability Insurance. RESULTS: The guidelines offer a decisional algorithm for the minimal frequency of participation in human genetics EQA schemes. This algorithm has been developed taking into account the scopes of the EQA schemes, the levels of experience, and the annual volumes of the Centers of Human Genetics in the performance of the tests considered. They include three key principles: (1) the recommended annual assessment of all genetic techniques and technological platforms, if possible through EQAs covering the technique, genotyping, and clinical interpretation; (2) the triennial assessment of the genotyping and interpretation of specific germline mutations and pharmacogenomics analyses; and (3) the documentation of actions undertaken in the case of poor performances and the participation to quality control the following year. The use of a Bayesian statist
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- 2021
40. CYSTIC DISEASE AND CILIOPATHIES
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Raaijmakers, Anke M.J., Mekahli, Djalila, Van Dyck, Maria, Corveleyn, Anniek, Allegaert, Karel, Deviendt, Koen, Kuypers, Dirk, Claes, Kathleen, and Levtchenko, Elena N.
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- 2014
41. Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers (Preprint)
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Lantoine, Joséphine, primary, Brysse, Anne, additional, Dideberg, Vinciane, additional, Claes, Kathleen, additional, Symoens, Sofie, additional, Coucke, Wim, additional, Benoit, Valérie, additional, Rombout, Sonia, additional, De Rycke, Martine, additional, Seneca, Sara, additional, Van Laer, Lut, additional, Wuyts, Wim, additional, Corveleyn, Anniek, additional, Van Den Bogaert, Kris, additional, Rydlewski, Catherine, additional, Wilkin, Françoise, additional, Ravoet, Marie, additional, Fastré, Elodie, additional, Capron, Arnaud, additional, and Vandevelde, Nathalie Monique, additional
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- 2021
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42. GENOTYPE-PHENOTYPE CORRELATION IN A PEDIATRIC ADPKD COHORT
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Giel, Dorien, Rechter, Stephanie, Breysem, Luc, Hindryckx, An, Janssens, Peter, Decuypere, Jean-Paul, Bammens, Bert, Corveleyn, Anniek, Ferec, Claude, Rudi Vennekens, Audrezet, Marie-Pierre, Harris, Peter, Mekahli, Djalila, Clinical sciences, Faculty of Medicine and Pharmacy, Internal Medicine Specializations, and Nephrology
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pediatric ,Genotype ,phebotype ,ADPKD - Published
- 2020
43. Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls
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Walsh, Roddy, primary, Lahrouchi, Najim, additional, Tadros, Rafik, additional, Kyndt, Florence, additional, Glinge, Charlotte, additional, Postema, Pieter G., additional, Amin, Ahmad S., additional, Nannenberg, Eline A., additional, Ware, James S., additional, Whiffin, Nicola, additional, Mazzarotto, Francesco, additional, Škorić-Milosavljević, Doris, additional, Krijger, Christian, additional, Arbelo, Elena, additional, Babuty, Dominique, additional, Barajas-Martinez, Hector, additional, Beckmann, Britt M., additional, Bézieau, Stéphane, additional, Bos, J. Martijn, additional, Breckpot, Jeroen, additional, Campuzano, Oscar, additional, Castelletti, Silvia, additional, Celen, Candan, additional, Clauss, Sebastian, additional, Corveleyn, Anniek, additional, Crotti, Lia, additional, Dagradi, Federica, additional, de Asmundis, Carlo, additional, Denjoy, Isabelle, additional, Dittmann, Sven, additional, Ellinor, Patrick T., additional, Ortuño, Cristina Gil, additional, Giustetto, Carla, additional, Gourraud, Jean-Baptiste, additional, Hazeki, Daisuke, additional, Horie, Minoru, additional, Ishikawa, Taisuke, additional, Itoh, Hideki, additional, Kaneko, Yoshiaki, additional, Kanters, Jørgen K., additional, Kimoto, Hiroki, additional, Kotta, Maria-Christina, additional, Krapels, Ingrid P.C., additional, Kurabayashi, Masahiko, additional, Lazarte, Julieta, additional, Leenhardt, Antoine, additional, Loeys, Bart L., additional, Lundin, Catarina, additional, Makiyama, Takeru, additional, Mansourati, Jacques, additional, Martins, Raphaël P., additional, Mazzanti, Andrea, additional, Mörner, Stellan, additional, Napolitano, Carlo, additional, Ohkubo, Kimie, additional, Papadakis, Michael, additional, Rudic, Boris, additional, Molina, Maria Sabater, additional, Sacher, Frédéric, additional, Sahin, Hatice, additional, Sarquella-Brugada, Georgia, additional, Sebastiano, Regina, additional, Sharma, Sanjay, additional, Sheppard, Mary N., additional, Shimamoto, Keiko, additional, Shoemaker, M.Benjamin, additional, Stallmeyer, Birgit, additional, Steinfurt, Johannes, additional, Tanaka, Yuji, additional, Tester, David J., additional, Usuda, Keisuke, additional, van der Zwaag, Paul A., additional, Van Dooren, Sonia, additional, Van Laer, Lut, additional, Winbo, Annika, additional, Winkel, Bo G., additional, Yamagata, Kenichiro, additional, Zumhagen, Sven, additional, Volders, Paul G.A., additional, Lubitz, Steven A., additional, Antzelevitch, Charles, additional, Platonov, Pyotr G., additional, Odening, Katja E., additional, Roden, Dan M., additional, Roberts, Jason D., additional, Skinner, Jonathan R., additional, Tfelt-Hansen, Jacob, additional, van den Berg, Maarten P., additional, Olesen, Morten S., additional, Lambiase, Pier D., additional, Borggrefe, Martin, additional, Hayashi, Kenshi, additional, Rydberg, Annika, additional, Nakajima, Tadashi, additional, Yoshinaga, Masao, additional, Saenen, Johan B., additional, Kääb, Stefan, additional, Brugada, Pedro, additional, Robyns, Tomas, additional, Giachino, Daniela F., additional, Ackerman, Michael J., additional, Brugada, Ramon, additional, Brugada, Josep, additional, Gimeno, Juan R., additional, Hasdemir, Can, additional, Guicheney, Pascale, additional, Priori, Silvia G., additional, Schulze-Bahr, Eric, additional, Makita, Naomasa, additional, Schwartz, Peter J., additional, Shimizu, Wataru, additional, Aiba, Takeshi, additional, Schott, Jean-Jacques, additional, Redon, Richard, additional, Ohno, Seiko, additional, Probst, Vincent, additional, Arnaout, Alain Al, additional, Amelot, Mathieu, additional, Anselme, Frédéric, additional, Billon, Olivier, additional, Defaye, Pascal, additional, Dupuis, Jean-Marc, additional, Jesel, Laurence, additional, Laurent, Gabriel, additional, Maury, Philippe, additional, Pasquie, Jean-Luc, additional, Wiart, Francois, additional, Behr, Elijah R., additional, Barc, Julien, additional, and Bezzina, Connie R., additional
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- 2021
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44. Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency
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Lemmens, Robin, Maugeri, Alessandra, Niessen, Hans W. M., Goris, An, Tousseyn, Thomas, Demaerel, Philippe, Corveleyn, Anniek, Robberecht, Wim, van der Knaap, Marjo S., Thijs, Vincent N., and Zwijnenburg, Petra J.G.
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- 2013
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45. Clinical characterization of the first Belgian SCN5A founder mutation cohort
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Sieliwonczyk, Ewa, primary, Alaerts, Maaike, additional, Robyns, Tomas, additional, Schepers, Dorien, additional, Claes, Charlotte, additional, Corveleyn, Anniek, additional, Willems, Rik, additional, Van Craenenbroeck, Emeline M, additional, Simons, Eline, additional, Nijak, Aleksandra, additional, Vandendriessche, Bert, additional, Mortier, Geert, additional, Vrints, Christiaan, additional, Koopman, Pieter, additional, Heidbuchel, Hein, additional, Van Laer, Lut, additional, Saenen, Johan, additional, and Loeys, Bart, additional
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- 2020
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46. Pathogenic TLR3 Variant in a Patient with Recurrent Herpes Simplex Virus 1–Triggered Erythema Multiforme
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Bucciol, Giorgia, primary, Delafontaine, Selket, additional, Moens, Leen, additional, Corveleyn, Anniek, additional, Morren, Marie-Anne, additional, and Meyts, Isabelle, additional
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- 2020
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47. Adult-Onset ANCA-Associated Vasculitis in SAVI: Extension of the Phenotypic Spectrum, Case Report and Review of the Literature
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Staels, Frederik, primary, Betrains, Albrecht, additional, Doubel, Peter, additional, Willemsen, Mathijs, additional, Cleemput, Vincent, additional, Vanderschueren, Steven, additional, Corveleyn, Anniek, additional, Meyts, Isabelle, additional, Sprangers, Ben, additional, Crow, Yanick J., additional, Humblet-Baron, Stephanie, additional, Liston, Adrian, additional, and Schrijvers, Rik, additional
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- 2020
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48. A double-edged sword
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Vandebotermet, Martijn, primary, Staels, Frederik, additional, Giovannozzi, Simone, additional, Delforge, Michel, additional, Tousseyn, Thomas, additional, Steelandt, Thomas, additional, Corveleyn, Anniek, additional, Meyts, Isabelle, additional, Maertens, Johan, additional, Yserbyt, Jonas, additional, and Schrijvers, Rik, additional
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- 2020
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49. P1799GENOTYPE-PHENOTYPE CORRELATION IN A PEDIATRIC ADPKD COHORT
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Van Giel, Dorien, primary, De Rechter, Stéphanie, primary, Breysem, Luc, primary, Hindryckx, An, primary, Janssens, Peter, primary, Decuypere, Jean-Paul, primary, Bammens, Bert, primary, Corveleyn, Anniek, primary, Férec, Claude, primary, Vennekens, Rudi, primary, Audrezet, Marie-Pierre, primary, Harris, Peter, primary, and Mekahli, Djalila, primary
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- 2020
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50. Fetal bovine serum impacts the observed N‐glycosylation defects in TMEM165 KO HEK cells
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Climer, Leslie, Morelle, Willy, De Bettignies, Geoffroy, Krzewinski Recchi, Marie-Ange, Lupashin, Vladimir, Medina-Cano, Daniel, Ucuncu, Ekin, Nguyen, Lam Son, Nicouleau, Michael, Lipecka, Joanna, Bizot, Jean-Charles, Thiel, Christian, Lefort, Nathalie, Faivre-Sarrailh, Catherine, Colleaux, Laurence, Guerrera, Ida Chiara, Cantagrel, Vincent, Lebredonchel, Elodie, Garat, Anne, Legrand, Dominique, Decool, Valérie, Klein, André, Ouzzine, Mohamed, Gasnier, Bruno, Potelle, Sven, Groux‐Degroote, Sophie, Cogez, Virginie, Noel, Maxence, Portier, Lucie, Solórzano, Carlos, Dall'Olio, Fabio, Steenackers, Agata, Mortuaire, Marlène, Gonzalez‐Pisfil, Mariano, Henry, Mélanie, Heliot, Laurent, Harduin-Lepers, Anne, Berthe, Audrey, Zaffino, Marie, Muller, claire, Houdou, Marine, Schulz, Céline, Bost, Frédéric, De Fay, Elia, Mazerbourg, Sabine, Flament, Stéphane, Mouajjah, Dounia, Ashikov, Angel, Abu Bakar, Nurulamin, Wen, Xiao-Yan, Niemeijer, Marco, Rodrigues Pinto Osorio, Glentino, Brand-Arzamendi, Koroboshka, Hasadsri, Linda, Hansikova, Hana, Raymond, Kimiyo, Ondruskova, Nina, Simon, Marleen, Pfundt, Rolph, Timal, Sharita, Beumers, Roel, Smeets, Roel, Kersten, Marjan, Huijben, Karin, Linders, Peter, van den Bogaart, Geert, van Hijum, Sacha, Rodenburg, Richard, van den Heuvel, Lambertus, Van Spronsen, Francjan, Honzik, Tomas, van Scherpenzeel, Monique, Lefeber, Dirk, Mirjam, Wamelink, Han, Brunner, Helen, Mundy, Helen, Michelakakis, Peter, van Hasselt, Jiddeke, van de Kamp, Diego, Martinelli, Lars, Morkrid, Katja, Brocke Holmefjord, Jozef, Hertecant, Majid, Alfadhel, Kevin, Carpenter, Johann, te Water Naude, Delos, Maxime, Hellec, Charles, Fifre, Alexandre, Carpentier, Mathieu, Papy-Garcia, Dulce, Allain, Fabrice, Denys, Agnés, Gilormini, Pierre André, Lion, Cédric, Vicogne, Dorothée, Guerardel, Yann, Biot, Christophe, Witters, Peter, Breckpot, Jeroen, Preston, Graem, Morava, Eva, Rujano, Maria, Cannata Serio, Magda, Panasyuk, Ganna, Reunert, Janine, Hauser, Virginie, Park, Julien, Freisinger, Peter, Guida, Maria Clara, Maier, Esther, Wada, Yoshinao, Jäger, Stefanie, Krogan, Nevan, Kretz, Oliver, Nobre, Susana, Garcia, Paula, Quelhas, Dulce, Bird, Thomas, Raskind, Wendy, Schwake, Michael, Duvet, Sandrine, Marquardt, Thorsten, Simons, Matias, Blommaert, Eline, Péanne, Romain, Cherepanova, Natalia, Rymen, Daisy, Staels, Frederik, Jaeken, Jaak, Race, Valérie, Keldermans, Liesbeth, Souche, Erika, Corveleyn, Anniek, Sparkes, Rebecca, Bhattacharya, Kaustuv, Devalck, Christine, Schrijvers, Rik, Foulquier, Francois, Gilmore, Reid, Matthijs, Gert, Université Lille Nord de France (COMUE), Unité de Glycobiologie Structurale et Fonctionnelle UMR 8576 (UGSF), Université de Lille-Centre National de la Recherche Scientifique (CNRS), Variabilité génétique des défenses de l'organisme face à son environnement chimique, PRES Université Lille Nord de France-Université de Lille, Droit et Santé, ANR-15-CE14-0001,SOLV_CDG,Décryptage des patients CDG (Congenital Disorders of Glyvosylation) déficients en TMEM165 - de la compréhension des mécanismes moléculaires à une thérapie(2015), ANR-15-RAR3-0004,EURO-CDG-2,A European research network directed towards improving diagnosis and treatment of inborn glycosylation disorders.(2015), European Project: 643578,H2020,H2020-HCO-2014,E-Rare-3(2014), Unité de Glycobiologie Structurale et Fonctionnelle - UMR 8576 (UGSF), Université de Lille-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Recherche Agronomique (INRA), Institut National de la Recherche Agronomique (INRA)-Université de Lille-Centre National de la Recherche Scientifique (CNRS), Université de Lille, CNRS, Unité de Glycobiologie Structurale et Fonctionnelle UMR 8576 [UGSF], Unité de Glycobiologie Structurale et Fonctionnelle - UMR 8576 [UGSF], Centre Hospitalier Régional Universitaire [Lille] [CHRU Lille], Impact de l'environnement chimique sur la santé humaine - ULR 4483 [IMPECS], Baylor University, University of Arkansas for Medical Sciences [UAMS], Institut de Génétique Moléculaire de Montpellier (IGMM), Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de psychiatrie et neurosciences (U894 / UMS 1266), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Key-Obs, JRC Institute for Energy and Transport (IET), European Commission - Joint Research Centre [Petten], Institut de Neurobiologie de la Méditerranée [Aix-Marseille Université] (INMED - INSERM U1249), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Plateforme Protéomique Necker [SFR Necker] (PPN - 3P5), Structure Fédérative de Recherche Necker (SFR Necker - UMS 3633 / US24), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Impact de l'environnement chimique sur la santé humaine (IMPECS), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Université de Lille, Biologie cellulaire et moléculaire de la sécrétion (BCMS), Centre National de la Recherche Scientifique (CNRS), Departamento de Bioquímica, Instituto Nacional de Enfermedades Respiratorias, Department of Experimental, Diagnostic and Specialty Medicine (DIMES) (DIMES), Università di Bologna [Bologna] (UNIBO), Laboratoire de Physique des Lasers, Atomes et Molécules - UMR 8523 (PhLAM), Biophotonique Cellulaire Fonctionelle, Institut de Recherche Interdisciplinaire, Institut de Recherche Interdisciplinaire [Villeneuve d'Ascq] (IRI), Université de Lille, Sciences et Technologies-Université de Lille, Droit et Santé-Centre National de la Recherche Scientifique (CNRS), Centre méditerranéen de médecine moléculaire (C3M), Université Nice Sophia Antipolis (UNS), Université Côte d'Azur (UCA)-Université Côte d'Azur (UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Medicine & Physiology , University of Toronto, First Faculty of Medicine, Charles University [Prague], University Medical Center [Utrecht], Department of Human Genetics, Radboud University Medical Center [Nijmegen], Paediatrics, Beatrix Children's Hospital/University Medical Center Groningen, Université Toulouse 1 Capitole (UT1), Croissance cellulaire, réparation et régénération tissulaires (CRRET), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Centre National de la Recherche Scientifique (CNRS), Chimie Moléculaire et Formulation (EA 4478), Université de Lille, Sciences et Technologies, Unité de Catalyse et de Chimie du Solide - UMR 8181 (UCCS), Université d'Artois (UA)-Ecole Centrale de Lille-Ecole Nationale Supérieure de Chimie de Lille (ENSCL)-Université de Lille-Centre National de la Recherche Scientifique (CNRS), Department of Pediatrics, University Children's Hospital, Centre de recherche Croissance et signalisation (UMR_S 845), Reutlingen University, Department of General Pediatrics, Münster University Children Hospital, Molecular Diagnostics, Center for Human Genetics, Gasthuisberg, Katholieke Universiteit Leuven and Flanders Interuniversity Institute for Biotechnology 4, Leuven, Belgium, Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Center for Human Genetics, and Laboratory of clinical immunology
- Subjects
Glycosylation ,Protein family ,[SDV]Life Sciences [q-bio] ,Golgi Apparatus ,FBS ,manganese level ,N‐glycosylation defects ,TMEM165 ,Article ,Antiporters ,Glycomics ,03 medical and health sciences ,chemistry.chemical_compound ,symbols.namesake ,Congenital Disorders of Glycosylation ,0302 clinical medicine ,N-linked glycosylation ,Genetics ,Humans ,[SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology ,[SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biochemistry [q-bio.BM] ,Cation Transport Proteins ,Genetics (clinical) ,ComputingMilieux_MISCELLANEOUS ,030304 developmental biology ,Manganese ,0303 health sciences ,Ion Transport ,HEK 293 cells ,Serum Albumin, Bovine ,Golgi apparatus ,Embryonic stem cell ,Cell biology ,[SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biomolecules [q-bio.BM] ,carbohydrates (lipids) ,HEK293 Cells ,chemistry ,symbols ,Calcium ,030217 neurology & neurosurgery ,Fetal bovine serum - Abstract
TMEM165 is involved in a rare genetic human disease named TMEM165‐CDG (congenital disorders of glycosylation). It is Golgi localized, highly conserved through evolution and belongs to the uncharacterized protein family 0016 (UPF0016). The use of isogenic TMEM165 KO HEK cells was crucial in deciphering the function of TMEM165 in Golgi manganese homeostasis. Manganese is a major cofactor of many glycosylation enzymes. Severe Golgi glycosylation defects are observed in TMEM165 Knock Out Human Embryonic Kidney (KO HEK) cells and are rescued by exogenous manganese supplementation. Intriguingly, we demonstrate in this study that the observed Golgi glycosylation defect mainly depends on fetal bovine serum, particularly its manganese level. Our results also demonstrate that iron and/or galactose can modulate the observed glycosylation defects in TMEM165 KO HEK cells. While isogenic cultured cells are widely used to study the impact of gene defects on proteins' glycosylation patterns, these results emphasize the importance of the use of validated fetal bovine serum in glycomics studies. 43;2
- Published
- 2019
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