VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease

Autor: Hassan Saei, Vincent Morinière, Laurence Heidet, Olivier Gribouval, Said Lebbah, Frederic Tores, Manon Mautret-Godefroy, Bertrand Knebelmann, Stéphane Burtey, Vincent Vuiblet, Corinne Antignac, Patrick Nitschké, Guillaume Dorval

Publikováno v: iScience, Vol 26, Iss 7, Pp 107171- (2023)

Summary: The human genome comprises approximately 3% of tandem repeats with variable length (VNTR), a few of which have been linked to human rare diseases. Autosomal dominant tubulointerstitial kidney disease—MUC1 (ADTKD-MUC1) is caused by specific

Externí odkaz: https://doaj.org/article/82acd8cadcc1476ab800c431abf7e136

Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence

Autor: Zineb Sbihi, Kay Tanita, Camille Bachelet, Christine Bole, Fabienne Jabot-Hanin, Frederic Tores, Marc Le Loch, Radi Khodr, Akihiro Hoshino, Christelle Lenoir, Matias Oleastro, Mariana Villa, Lucia Spossito, Emma Prieto, Silvia Danielian, Erika Brunet, Capucine Picard, Takashi Taga, Shimaa Said Mohamed Ali Abdrabou, Takeshi Isoda, Masafumi Yamada, Alejandro Palma, Hirokazu Kanegane, Sylvain Latour

Publikováno v: Journal of Clinical Immunology
Journal of Clinical Immunology, 2022, 42 (3), pp.559-571. ⟨10.1007/s10875-021-01188-z⟩

International audience; PurposeX-linked inhibitor of apoptosis protein (XIAP) deficiency, also known as the X-linked lymphoproliferative syndrome of type 2 (XLP-2), is a rare immunodeficiency characterized by recurrent hemophagocytic lymphohistiocyto

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4702a9985e5d31f212c43706d89e88a0
https://doi.org/10.1007/s10875-021-01188-z

Auto-antibodies against type I IFNs in patients with life-threatening COVID-19

Autor: Bastard, P., Rosen, L. B., Zhang, Q., Michailidis, E., Hoffmann, H. -H., Zhang, Y., Dorgham, K., Philippot, Q., Rosain, J., Beziat, V., Manry, J., Shaw, E., Haljasmagi, L., Peterson, P., Lorenzo, L., Bizien, L., Trouillet-Assant, S., Dobbs, K., de Jesus, A. A., Belot, A., Kallaste, A., Catherinot, E., Tandjaoui-Lambiotte, Y., Le Pen, J., Kerner, G., Bigio, B., Seeleuthner, Y., Yang, R., Bolze, A., Spaan, A. N., Delmonte, O. M., Abers, M. S., Aiuti, A., Casari, G., Lampasona, V., Piemonti, L., Ciceri, F., Bilguvar, K., Lifton, R. P., Vasse, M., Smadja, D. M., Migaud, M., Hadjadj, J., Terrier, B., Duffy, D., Quintana-Murci, L., van de Beek, D., Roussel, L., Vinh, D. C., Tangye, S. G., Haerynck, F., Dalmau, D., Martinez-Picado, J., Brodin, P., Nussenzweig, M. C., Boisson-Dupuis, S., Rodriguez-Gallego, C., Vogt, G., Mogensen, T. H., Oler, A. J., Gu, J., Burbelo, P. D., Cohen, J. I., Biondi, A., Bettini, L. R., Dangio, M., Bonfanti, P., Rossignol, P., Mayaux, J., Rieux-Laucat, F., Husebye, E. S., Fusco, F., Ursini, M. V., Imberti, L., Sottini, A., Paghera, S., Quiros-Roldan, E., Rossi, C., Castagnoli, R., Montagna, D., Licari, A., Marseglia, G. L., Duval, X., Ghosn, J., Tsang, J. S., Goldbach-Mansky, R., Kisand, K., Lionakis, M. S., Puel, A., Zhang, S. -Y., Holland, S. M., Gorochov, G., Jouanguy, E., Rice, C. M., Cobat, A., Notarangelo, L. D., Abel, L., H. C., Su, Casanova, J. -L., Arias, A. A., Boisson, B., Boucherit, S., Bustamante, J., Chbihi, M., Chen, J., Chrabieh, M., Kochetkov, T., Le Voyer, T., Liu, D., Nemirovskaya, Y., Ogishi, M., Papandrea, D., Patissier, C., Rapaport, F., Roynard, M., Vladikine, N., Woollett, M., Zhang, P., Kashyap, A., Ding, L., Bosticardo, M., Wang, Q., Ochoa, S., Liu, H., Chauvin, S. D., Stack, M., Koroleva, G., Bansal, N., Dalgard, C. L., Snow, A. L., Abad, J., Aguilera-Albesa, S., Akcan, O. M., Darazam, I. A., Aldave, J. C., Ramos, M. A., Nadji, S. A., Alkan, G., Allardet-Servent, J., Allende, L. M., Alsina, L., Alyanakian, M. -A., Amador-Borrero, B., Amoura, Z., Antoli, A., Arslan, S., Assant, S., Auguet, T., Azot, A., Bajolle, F., Baldolli, A., Ballester, M., Feldman, H. B., Barrou, B., Beurton, A., Bilbao, A., Blanchard-Rohner, G., Blanco, I., Blandinieres, A., Blazquez-Gamero, D., Bloomfield, M., Bolivar-Prados, M., Borie, R., Bousfiha, A. A., Bouvattier, C., Boyarchuk, O., Bueno, M. R. P., Agra, J. J. C., Calimli, S., Capra, R., Carrabba, M., Casasnovas, C., Caseris, M., Castelle, M., Castelli, F., de Vera, M. C., Castro, M. V., Chalumeau, M., Charbit, B., Cheng, M. P., Clave, P., Clotet, B., Codina, A., Colkesen, F., Colobran, R., Comarmond, C., Corsico, A. G., Darley, D. R., Dauby, N., Dauger, S., de Pontual, L., Dehban, A., Delplancq, G., Demoule, A., Di Sabatino, A., Diehl, J. -L., Dobbelaere, S., Durand, S., Eldars, W., Elgamal, M., Elnagdy, M. H., Emiroglu, M., Erdeniz, E. H., Aytekin, S. E., Euvrard, R., Evcen, R., Fabio, G., Faivre, L., Falck, A., Fartoukh, M., Faure, M., Arquero, M. F., Flores, C., Francois, B., Fumado, V., Solis, B. G., Gaussem, P., Gil-Herrera, J., Gilardin, L., Alarcon, M. G., Girona-Alarcon, M., Goffard, J. -C., Gok, F., Gonzalez-Montelongo, R., Guerder, A., Gul, Y., Guner, S. N., Gut, M., Halwani, R., Hammarstrom, L., Hatipoglu, N., Hernandez-Brito, E., Holanda-Pena, M. S., Horcajada, J. P., Hraiech, S., Humbert, L., Iglesias, A. D., Inigo-Campos, A., Jamme, M., Arranz, M. J., Jordan, I., Kanat, F., Kapakli, H., Kara, I., Karbuz, A., Yasar, K. K., Keles, S., Demirkol, Y. K., Klocperk, A., Krol, Z. J., Kuentz, P., Kwan, Y. W. M., Lagier, J. -C., Lau, Y. -L., Le Bourgeois, F., Leo, Y. -S., Lopez, R. L., Leung, D., Levin, M., Levy, M., Levy, R., Li, Z., Linglart, A., Lorenzo-Salazar, J. M., Louapre, C., Lubetzki, C., Luyt, C. -E., Lye, D. C., Mansouri, D., Marjani, M., Pereira, J. M., Martin, A., Pueyo, D. M., Marzana, I., Mathian, A., Matos, L. R. B., Matthews, G. V., Mege, J. -L., Melki, I., Meritet, J. -F., Metin, O., Meyts, I., Mezidi, M., Migeotte, I., Millereux, M., Mirault, T., Mircher, C., Mirsaeidi, M., Melian, A. M., Martinez, A. M., Morange, P., Mordacq, C., Morelle, G., Mouly, S., Munoz-Barrera, A., Nafati, C., Neves, J. F., L. F. P., Ng, Medina, Y. N., Cuadros, E. N., Gonzalo Ocejo-Vinyals, J., Orbak, Z., Oualha, M., Ozcelik, T., Hammarstrom, Q. P., Parizot, C., Pascreau, T., Paz-Artal, E., de Diego, R. P., Philippe, A., Philippota, Q., Planas-Serra, L., Ploin, D., Poissy, J., Poncelet, G., Pouletty, M., Quentric, P., Raoult, D., Rebillat, A. -S., Reisli, I., Ricart, P., Richard, J. -C., Rivet, N., Riviere, J. G., Blanch, G. R., Rodrigo, C., Rodriguez-Palmero, A., Romero, C. S., Rothenbuhler, A., Rozenberg, F., del Prado, M. Y. R., Riera, J. S., Sanchez, O., Sanchez-Ramon, S., Schluter, A., Schmidt, M., Schweitzer, C. E., Scolari, F., Sediva, A., Seijo, L. M., Sene, D., Senoglu, S., Seppanen, M. R. J., Ilovich, A. S., Shahrooei, M., Smadja, D., Sobh, A., Moreno, X. S., Sole-Violan, J., Soler, C., Soler-Palacin, P., Stepanovskiy, Y., Stoclin, A., Taccone, F., Tandjaoui-Lambiottea, Y., Taupin, J. -L., Tavernier, S. J., Thumerelle, C., Tomasoni, G., Toubiana, J., Alvarez, J. T., Trouillet-Assanta, S., Troya, J., Tucci, A., Uzunhan, Y., Vabres, P., Valencia-Ramos, J., van Den Rym, A. M., Vandernoot, I., Vatansev, H., Velez-Santamaria, V., Viel, S., Vilain, C., Vilaire, M. E., Vincent, A., Voiriot, G., Vuotto, F., Yosunkaya, A., Young, B. E., Yucel, F., Zannad, F., Zatz, M., Belota, A., Foti, G., Bellani, G., Citerio, G., Contro, E., Pesci, A., Valsecchi, M. G., Cazzaniga, M., Bole-Feysot, C., Lyonnet, S., Masson, C., Nitschke, P., Pouliet, A., Schmitt, Y., Tores, F., Zarhrate, M., Abela, L., Andrejak, C., Angoulvant, F., Bachelet, D., Basmaci, R., Behillil, S., Beluze, M., Benkerrou, D., Bhavsar, K., Bompart, F., Bouadma, L., Bouscambert, M., Caralp, M., Cervantes-Gonzalez, M., Chair, A., Coelho, A., Couffignal, C., Couffin-Cadiergues, S., D'Ortenzio, E., da Silveira, C., Debray, M. -P., Deplanque, D., Descamps, D., Desvallees, M., Diallo, A., Diouf, A., Dorival, C., Dubos, F., Eloy, P., Enouf, V. V. E., Esperou, H., Esposito-Farese, M., Etienne, M., Ettalhaoui, N., Gault, N., Gaymard, A., Gigante, T., Gorenne, I., Guedj, J., Hoctin, A., Hoffmann, I., Jaafoura, S., Kafif, O., Kaguelidou, F., Kali, S., Khalil, A., Khan, C., Laouenan, C., Laribi, S., Le, M., Le Hingrat, Q., Le Mestre, S., Le Nagard, H., Lescure, F. -X., Levy, Y., Levy-Marchal, C., Lina, B., Lingas, G., Lucet, J. C., Malvy, D., Mambert, M., Mentre, F., Mercier, N., Meziane, A., Mouquet, H., Mullaert, J., Neant, N., Noret, M., Pages, J., Papadopoulos, A., Paul, C., Peiffer-Smadja, N., Petrov-Sanchez, V., Peytavin, G., Picone, O., Puechal, O., Rosa-Calatrava, M., Rossignol, B., Roy, C., Schneider, M., Semaille, C., Mohammed, N. S., Tagherset, L., Tardivon, C., Tellier, M. -C., Teoule, F., Terrier, O., Timsit, J. -F., Treoux, T., Tual, C., Tubiana, S., van der Werf, S., Vanel, N., Veislinger, A., Visseaux, B., Wiedemann, A., Yazdanpanah, Y., Abelc, L., Alcover, A., Aschard, H., Astrom, K., Bousso, P., Bruhns, P., Cumano, A., Demangel, C., Deriano, L., Santo, J. D., Dromer, F., Eberl, G., Enninga, J., Fellay, J., Gomperts-Boneca, I., Hasan, M., Hercberg, S., Lantz, O., Patin, E., Pellegrini, S., Pol, S., Rausell, A., Rogge, L., Sakuntabhai, A., Schwartz, O., Schwikowski, B., Shorte, S., Tangy, F., Toubert, A., Touvier, M., Ungeheuer, M. -N., Albert, M. L., Alavoine, L., Amat, K. K. 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M., Prando, C., Pujol, A., Renia, L., Renieri, A., Sancho-Shimizu, V., Sankaran, V., Barrett, K. S., Snow, A., Tangye, S., Turvey, S., Uddin, F., Uddin, M. J., Vazquez, S. E., von Bernuth, H., Washington, N., Zawadzki, P., Sua, H. C., Casanovaa, J. -L.

Publikováno v: Milieu Intérieur Consortium, CoV-Contact Cohort, Amsterdam UMC Covid-19 Biobank, COVID Human Genetic Effort, HGID Lab, NIAID-USUHS Immune Response to COVID Group, COVID Clinicians, COVID-STORM Clinicians, Imagine COVID Group & French COVID Cohort Study Group 2020, ' Autoantibodies against type I IFNs in patients with life-threatening COVID-19 ', Science, vol. 370, no. 6515, eabd4585 . https://doi.org/10.1126/science.abd4585
Bastard, P, Rosen, L B, Zhang, Q, Michailidis, E, Hoffmann, H H, Zhang, Y, Dorgham, K, Philippot, Q, Rosain, J, Béziat, V, Manry, J, Shaw, E, Haljasmägi, L, Peterson, P, Lorenzo, L, Bizien, L, Trouillet-Assant, S, Dobbs, K, de Jesus, A A, Belot, A, Kallaste, A, Catherinot, E, Tandjaoui-Lambiotte, Y, Le Pen, J, Kerner, G, Bigio, B, Seeleuthner, Y, Yang, R, Bolze, A, Spaan, A N, Delmonte, O M, Abers, M S, Aiuti, A, Casari, G, Lampasona, V, Piemonti, L, Ciceri, F, Bilguvar, K, Lifton, R P, Vasse, M, Smadja, D M, Migaud, M, Hadjadj, J, Terrier, B, Duffy, D, Quintana-Murci, L, van de Beek, D, Roussel, L, Mogensen, T H, Casanova, J L, HGID Lab, NIAID-USUHS Immune Response to COVID Group, COVID Clinicians, COVID-STORM Clinicians, Imagine COVID Group, French COVID Cohort Study Group, Milieu Intérieur Consortium, CoV-Contact Cohort, Amsterdam UMC Covid-19 Biobank & COVID Human Genetic Effort 2020, ' Autoantibodies against type I IFNs in patients with life-threatening COVID-19 ', Science, vol. 370, no. 6515, eabd4585 . https://doi.org/10.1126/science.abd4585
Science
Science, American Association for the Advancement of Science, 2020, 370 (6515), pp.eabd4585. ⟨10.1126/science.abd4585⟩
Science (Wayville, S. Aust.) 370 (2020). doi:10.1126/science.abd4585
info:cnr-pdr/source/autori:Paul Bastard # 1 2 3, Lindsey B Rosen # 4, Qian Zhang # 3, Eleftherios Michailidis # 5, Hans-Heinrich Hoffmann # 5, Yu Zhang # 4, Karim Dorgham # 6, Quentin Philippot # 7 2, Jérémie Rosain # 7 2, Vivien Béziat # 7 2 3, Jérémy Manry 7 2, Elana Shaw 4, Liis Haljasmägi 8, Pärt Peterson 8, Lazaro Lorenzo 7 2, Lucy Bizien 7 2, Sophie Trouillet-Assant 9 10, Kerry Dobbs 4, Adriana Almeida de Jesus 4, Alexandre Belot 10 11 12, Anne Kallaste 13, Emilie Catherinot 14, Yacine Tandjaoui-Lambiotte 15, Jeremie Le Pen 5, Gaspard Kerner 7 2, Benedetta Bigio 3, Yoann Seeleuthner 7 2, Rui Yang 3, Alexandre Bolze 16, András N Spaan 3 17, Ottavia M Delmonte 4, Michael S Abers 4, Alessandro Aiuti 18, Giorgio Casari 18, Vito Lampasona 18, Lorenzo Piemonti 18, Fabio Ciceri 18, Kaya Bilguvar 19, Richard P Lifton 19 20 21, Marc Vasse 22, David M Smadja 23, Mélanie Migaud 7 2, Jérome Hadjadj 24, Benjamin Terrier 25, Darragh Duffy 26, Lluis Quintana-Murci 27 28, Diederik van de Beek 29, Lucie Roussel 30 31, Donald C Vinh 30 31, Stuart G Tangye 32 33, Filomeen Haerynck 34, David Dalmau 35, Javier Martinez-Picado 36 37 38, Petter Brodin 39 40, Michel C Nussenzweig 41 42, Stéphanie Boisson-Dupuis 7 2 3, Carlos Rodríguez-Gallego 43 44, Guillaume Vogt 45, Trine H Mogensen 46 47, Andrew J Oler 48, Jingwen Gu 48, Peter D Burbelo 49, Jeffrey I Cohen 50, Andrea Biondi 51, Laura Rachele Bettini 51, Mariella D'Angio 51, Paolo Bonfanti 52, Patrick Rossignol 53, Julien Mayaux 54, Frédéric Rieux-Laucat 24, Eystein S Husebye 55 56 57, Francesca Fusco 58, Matilde Valeria Ursini 58, Luisa Imberti 59, Alessandra Sottini 59, Simone Paghera 59, Eugenia Quiros-Roldan 60, Camillo Rossi 61, Riccardo Castagnoli 62, Daniela Montagna 63 64, Amelia Licari 62, Gian Luigi Marseglia 62, Xavier Duval 65 66 67 68 69, Jade Ghosn 68 69, HGID Lab; NIAID-USUHS Immune Response to COVID Group; COVID Clinicians; COVID-STORM Clinicians; Imagine COVID Group; French COVID Cohort Study Group; Milieu Intérieur Consortium; CoV-Contact Cohort; Amsterdam UMC Covid-19 Biobank; COVID Human Genetic Effort; John S Tsang 70 71, Raphaela Goldbach-Mansky 4, Kai Kisand 8, Michail S Lionakis 4, Anne Puel 7 2 3, Shen-Ying Zhang 7 2 3, Steven M Holland # 4, Guy Gorochov # 6 72, Emmanuelle Jouanguy # 7 2 3, Charles M Rice # 5, Aurélie Cobat # 7 2 3, Luigi D Notarangelo # 4, Laurent Abel # 7 2 3, Helen C Su # 4, Jean-Laurent Casanova/titolo:Autoantibodies against type I IFNs in patients with life-threatening COVID-19/doi:10.1126%2Fscience.abd4585/rivista:Science (Wayville, S. Aust.)/anno:2020/pagina_da:/pagina_a:/intervallo_pagine:/volume:370
Science, 370 (6515
Science (New York, N.y.)
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Science, 370(6515):eabd4585. American Association for the Advancement of Science
Science, 2020, 370 (6515), pp.eabd4585. ⟨10.1126/science.abd4585⟩
Digital.CSIC. Repositorio Institucional del CSIC
Science (New York, N.Y.) 370 (2020). doi:10.1126/science.abd4585
info:cnr-pdr/source/autori:Bastard P.; Rosen L.B.; Zhang Q.; Michailidis E.; Hoffmann H.-H.; Zhang Y.; Dorgham K.; Philippot Q.; Rosain J.; Beziat V.; Manry J.; Shaw E.; Haljasmagi L.; Peterson P.; Lorenzo L.; Bizien L.; Trouillet-Assant S.; Dobbs K.; de Jesus A.A.; Belot A.; Kallaste A.; Catherinot E.; Tandjaoui-Lambiotte Y.; Le Pen J.; Kerner G.; Bigio B.; Seeleuthner Y.; Yang R.; Bolze A.; Spaan A.N.; Delmonte O.M.; Abers M.S.; Aiuti A.; Casari G.; Lampasona V.; Piemonti L.; Ciceri F.; Bilguvar K.; Lifton R.P.; Vasse M.; Smadja D.M.; Migaud M.; Hadjadj J.; Terrier B.; Duffy D.; Quintana-Murci L.; van de Beek D.; Roussel L.; Vinh D.C.; Tangye S.G.; Haerynck F.; Dalmau D.; Martinez-Picado J.; Brodin P.; Nussenzweig M.C.; Boisson-Dupuis S.; Rodriguez-Gallego C.; Vogt G.; Mogensen T.H.; Oler A.J.; Gu J.; Burbelo P.D.; Cohen J.I.; Biondi A.; Bettini L.R.; D'Angio M.; Bonfanti P.; Rossignol P.; Mayaux J.; Rieux-Laucat F.; Husebye E.S.; Fusco F.; Ursini M.V.; Imberti L.; Sottini A.; Paghera S.; Quiros-Roldan E.; Rossi C.; Castagnoli R.; Montagna D.; Licari A.; Marseglia G.L.; Duval X.; Ghosn J.; Tsang J.S.; Goldbach-Mansky R.; Kisand K.; Lionakis M.S.; Puel A.; Zhang S.-Y.; Holland S.M.; Gorochov G.; Jouanguy E.; Rice C.M.; Cobat A.; Notarangelo L.D.; Abel L.; Su H.C.; Casanova J.-L./titolo:Autoantibodies against type I IFNs in patients with life-threatening COVID-19/doi:10.1126%2Fscience.abd4585/rivista:Science (New York, N.Y.)/anno:2020/pagina_da:/pagina_a:/intervallo_pagine:/volume:370
Science, American Association for the Advancement of Science (AAAS), 2020, 370 (6515), pp.eabd4585. ⟨10.1126/science.abd4585⟩
eabd4585
370:eabd4585
SCIENCE
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona

HGID Lab Andrés Augusto Arias1,3, Bertrand Boisson1,2, Soraya Boucherit2, Jacinta Bustamante1,2, Marwa Chbihi2, Jie Chen1, Maya Chrabieh2, Tatiana Kochetkov1, Tom Le Voyer2, Dana Liu1, Yelena Nemirovskaya1, Masato Ogishi1, Dominick Papandrea1, Céci

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e45dfdfa6aab0683289a59e92561b44

Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence.

Autor: Sbihi, Zineb, Tanita, Kay, Bachelet, Camille, Bole, Christine, Jabot-Hanin, Fabienne, Tores, Frederic, Le Loch, Marc, Khodr, Radi, Hoshino, Akihiro, Lenoir, Christelle, Oleastro, Matias, Villa, Mariana, Spossito, Lucia, Prieto, Emma, Danielian, Silvia, Brunet, Erika, Picard, Capucine, Taga, Takashi, Abdrabou, Shimaa Said Mohamed Ali, Isoda, Takeshi

Publikováno v: Journal of Clinical Immunology; Apr2022, Vol. 42 Issue 3, p559-571, 13p

Scientific Poster Presentations.

Publikováno v: Cellular Oncology. Mar2007, Vol. 29 Issue 2, p129-170. 42p.