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2. New and updated convex shape models of asteroids based on optical data from a large collaboration network

Author

Hanuš, J., Ďurech, J., Oszkiewicz, D. A., Behrend, R., Carry, B., Delbo', M., Adam, O., Afonina, V., Anquetin, R., Antonini, P., Arnold, L., Audejean, M., Aurard, P., Bachschmidt, M., Badue, B., Barbotin, E., Barroy, P., Baudouin, P., Berard, L., Berger, N., Bernasconi, L., Bosch, J-G., Bouley, S., Bozhinova, I., Brinsfield, J., Brunetto, L., Canaud, G., Caron, J., Carrier, F., Casalnuovo, G., Casulli, S., Cerda, M., Chalamet, L., Charbonnel, S., Chinaglia, B., Cikota, A., Colas, F., Coliac, J-F., Collet, A., Coloma, J., Conjat, M., Conseil, E., Costa, R., Crippa, R., Cristofanelli, M., Damerdji, Y., Debackere, A., Decock, A., Déhais, Q., Déléage, T., Delmelle, S., Demeautis, C., Dróżdż, M., Dubos, G., Dulcamara, T., Dumont, M., Durkee, R., Dymock, R., del Valle, A. Escalante, Esseiva, N., Esseiva, R., Esteban, M., Fauchez, T., Fauerbach, M., Fauvaud, M., Fauvaud, S., Forné, E., Fournel, C., Fradet, D., Garlitz, J., Gerteis, O., Gillier, C., Gillon, M., Giraud, R., Godard, J-P., Goncalves, R., Hamanowa, H., Hay, K., Hellmich, S., Heterier, S., Higgins, D., Hirsch, R., Hodosan, G., Hren, M., Hygate, A., Innocent, N., Jacquinot, H., Jawahar, S., Jehin, E., Jerosimic, L., Klotz, A., Koff, W., Korlevic, P., Kosturkiewicz, E., Krafft, P., Krugly, Y., Kugel, F., Labrevoir, O., Lecacheux, J., Lehký, M., Leroy, A., Lesquerbault, B., Lopez-Gonzales, M. J., Lutz, M., Mallecot, B., Manfroid, J., Manzini, F., Marciniak, A., Martin, A., Modave, B., Montaigut, R., Montier, J., Morelle, E., Morton, B., Mottola, S., Naves, R., Nomen, J., Oey, J., Ogłoza, W., Paiella, M., Pallares, H., Peyrot, A., Pilcher, F., Pirenne, J-F., Piron, P., Polinska, M., Polotto, M., Poncy, R., Previt, J. P., Reignier, F., Renauld, D., Ricci, D., Richard, F., Rinner, C., Risoldi, V., Robilliard, D., Romeuf, D., Rousseau, G., Roy, R., Ruthroff, J., Salom, P. A., Salvador, L., Sanchez, S., Santana-Ros, T., Scholz, A., Séné, G., Skiff, B., Sobkowiak, K., Sogorb, P., Soldán, F., Spiridakis, A., Splanska, E., Sposetti, S., Starkey, D., Stephens, R., Stiepen, A., Stoss, R., Strajnic, J., Teng, J-P., Tumolo, G., Vagnozzi, A., Vanoutryve, B., Vugnon, J. M., Warner, B. D., Waucomont, M., Wertz, O., Winiarski, M., and Wolf, M.

Subjects
Astrophysics - Earth and Planetary Astrophysics
Abstract

Asteroid modeling efforts in the last decade resulted in a comprehensive dataset of almost 400 convex shape models and their rotation states. This amount already provided a deep insight into physical properties of main-belt asteroids or large collisional families. We aim to increase the number of asteroid shape models and rotation states. Such results are an important input for various further studies such as analysis of asteroid physical properties in different populations, including smaller collisional families, thermophysical modeling, and scaling shape models by disk-resolved images, or stellar occultation data. This provides, in combination with known masses, bulk density estimates, but constrains also theoretical collisional and evolutional models of the Solar System. We use all available disk-integrated optical data (i.e., classical dense-in-time photometry obtained from public databases and through a large collaboration network as well as sparse-in-time individual measurements from a few sky surveys) as an input for the convex inversion method, and derive 3D shape models of asteroids, together with their rotation periods and orientations of rotation axes. The key ingredient is the support of more that one hundred observers who submit their optical data to publicly available databases. We present updated shape models for 36 asteroids, for which mass estimates are currently available in the literature or their masses will be most likely determined from their gravitational influence on smaller bodies, which orbital deflection will be observed by the ESA Gaia astrometric mission. This was achieved by using additional optical data from recent apparitions for the shape optimization. Moreover, we also present new shape model determinations for 250 asteroids, including 13 Hungarias and 3 near-Earth asteroids., Comment: Accepted for publication in A&A

Published
2015
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4. Lésions sternales et vertébrales menaçantes en lien avec une maladie de Gorham-Stout : une évolution spectaculaire sous évérolimus !

Author

Boyard, A., primary, Stephant, M., additional, Berthelot, J.M., additional, Canaud, G., additional, Confavreux, C., additional, Cornec-Le Gall, E., additional, Mercier, O., additional, Quehe, P., additional, Saraux, A., additional, Jousse Joulin, S., additional, Cornec, D., additional, Guellec, D., additional, Tison, A., additional, Devauchelle Pensec, V., additional, and Marhadour, T., additional

Published
2022
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5. The PHEMU21 catalogue and astrometric results of the observations of the mutual occultations and eclipses of the Galilean satellites of Jupiter made in 2021

Author

Emelyanov, N, primary, Arlot, J-E, additional, Anbazhagan, P, additional, André, P, additional, Bardecker, J, additional, Canaud, G, additional, Coliac, J F, additional, De Elias Cantalapiedra, J, additional, Ellington, C K, additional, Fernandez, J M, additional, Forbes, M, additional, Gazeas, K, additional, Gault, D, additional, George, T, additional, Gourdon, F, additional, Herald, D, additional, Huber, D, additional, Iglesias-Marzoa, R, additional, Izquierdo, J, additional, Jorba Lloveras, R, additional, Kerr, S, additional, Lasala, A, additional, Le Guen, P, additional, Leroy, A, additional, Lutz, M, additional, Maley, P, additional, Mannchen, T, additional, Mari, J M, additional, Maury, A, additional, Newman, J, additional, Palafouta, S, additional, Prieto Gallego, J, additional, Roger, P, additional, Röschli, D, additional, Selvakumar, G, additional, Serra, V, additional, Stuart, P, additional, Turchenko, M, additional, Vasundhara, R, additional, and Velasco, E, additional

Published
2022
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13. PHEMU21 catalogue and astrometric results of the observations of the mutual occultations and eclipses of the Galilean satellites of Jupiter made in 2021.

Author

Emelyanov, N, Arlot, J-E, Anbazhagan, P, André, P, Bardecker, J, Canaud, G, Coliac, J F, De Elias Cantalapiedra, J, Ellington, C K, Fernandez, J M, Forbes, M, Gazeas, K, Gault, D, George, T, Gourdon, F, Herald, D, Huber, D, Iglesias-Marzoa, R, Izquierdo, J, and Jorba Lloveras, R

Subjects
JUPITER (Planet), ECLIPSES, LIGHT curves, ASTROMETRY, NATURAL satellites, CATALOGS, CATALOGING
Abstract

2021 was the year of Jupiter's equinox, that is the Sun and the Earth passed through the equatorial plane of the planet and therefore the orbital planes of its main satellites. This occurrence made it possible to observe mutual occultations and eclipses between the satellites. Our former experience shows that observations of such events provide accurate astrometric data that can be used to obtain new information on the dynamics of the Galilean satellites. The observations are a series of photometric measurements of a satellite which are carried out through the organization of a world wide campaign of observations thus maximizing the number and the quality of the data obtained. This work focuses on processing the photometric observations of the mutual occultations and eclipses of the Galilean satellites of Jupiter made during the international campaign in 2021. The final goal is to derive new accurate astrometric data. We used an accurate photometric model of mutual events in conjunction with the accuracy of observation. We obtained and processed the 84 light curves obtained during the campaign. As compared with the current best ephemerides, the rms of 'O–C' residuals are equal to 49 and 48 mas in right ascension and declination, respectively. [ABSTRACT FROM AUTHOR]

Published
2022
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14. Development of a New International Antiphospholipid Syndrome Classification Criteria Phase I/II Report: Generation and Reduction of Candidate Criteria

Author

Barbhaiya, M., Zuily, S., Ahmadzadeh, Y., Amigo, M. -C., Avcin, T., Bertolaccini, M., Branch, D. W., de Jesus, G., Devreese, K. M. J., Frances, C., Garcia, D., Guillemin, F., Levine, S. R., Levy, R. A., Lockshin, M. D., Ortel, T., Seshan, S. V., Tektonidou, M., Wahl, D., Willis, R., Naden, R., Costenbader, K., Erkan, D., Agmon-Levin, N., Aguilar, C., Alba, P., Alpan, O., Ambrozic, A., Amoura, Z., Andrade, D., Andrade, L., Appenzeller, S., Esen, B. A., Atsumi, T., Berkun, Y., Cabral, A., Canaud, G., Cervera, R., Chen, P., Chighizola, C., Cimaz, R., Cohen, H., Costedoat-Chalumeau, N., Crowther, M., Cuadrado, M. J., de Groot, P. G., de Moerloose, P., Derksen, R., Diz-Kucukkaya, R., Dorner, T., Fortin, P., Giannakopoulos, B., Gomez-Puerta, J. A., Gonzalez, E. B., Inanc, M., Kenet, G., Khamashta, M., Kriegel, M., Krilis, S., Laskin, C., Massicotte, P., Mccarty, G., Meroni, P. L., Mikdashi, J., Myones, B., Pengo, V., Petri, M., Roubey, R., Sammaritano, L., Sanna, G., Sciascia, S., Signorelli, F., Soybilgic, A., Tincani, A., Woller, S., and Yelnik, C.

Subjects
Antiphospholipid Syndrome, Consensus, Delphi Technique, Humans, Predictive Value of Tests, Rheumatology, Severity of Illness Index, CONSENSUS STATEMENT, Potential candidate, AMERICAN-COLLEGE, Article, DISEASE, Reduction (complexity), 03 medical and health sciences, 0302 clinical medicine, Antiphospholipid syndrome, RHEUMATOLOGY/EUROPEAN LEAGUE, Nominal group technique, Medicine and Health Sciences, Hierarchical organization, Medicine, CLINICAL-SIGNIFICANCE, computer.programming_language, 030203 arthritis & rheumatology, RISK, VENOUS THROMBOEMBOLISM, Information retrieval, business.industry, SYSTEMIC-SCLEROSIS, medicine.disease, Phase i ii, MYOCARDIAL-INFARCTION, ANTIBODIES, Report generation, business, computer, Delphi
Abstract

Objective : An international multidisciplinary initiative, jointly supported by the American College of Rheumatology and European Alliance of Associations for Rheumatology, is underway to develop new rigorous classification criteria to identify patients with high likelihood of antiphospholipid syndrome (APS) for research purposes. The present study was undertaken to apply an evidence- and consensus-based approach to identify candidate criteria and develop a hierarchical organization of criteria within domains. Methods : During phase I, the APS classification criteria steering committee used systematic literature reviews and surveys of international APS physician scientists to generate a comprehensive list of items related to APS. In phase II, we reviewed the literature, administered surveys, formed domain subcommittees, and used Delphi exercises and nominal group technique to reduce potential APS candidate criteria. Candidate criteria were hierarchically organized into clinical and laboratory domains. Results : Phase I generated 152 candidate criteria, expanded to 261 items with the addition of subgroups and candidate criteria with potential negative weights. Using iterative item reduction techniques in phase II, we initially reduced these items to 64 potential candidate criteria organized into 10 clinical and laboratory domains. Subsequent item reduction methods resulted in 27 candidate criteria, hierarchically organized into 6 additive domains (laboratory, macrovascular, microvascular, obstetric, cardiac, and hematologic) for APS classification. Conclusion : Using data- and consensus-driven methodology, we identified 27 APS candidate criteria in 6 clinical or laboratory domains. In the next phase, the proposed candidate criteria will be used for real-world case collection and further refined, organized, and weighted to determine an aggregate score and threshold for APS classification.

Published
2021

15. HLA-D and PLA2R1 risk alleles associate with recurrent primary membranous nephropathy in kidney transplant recipients

Author

Berchtold, L., Letouzé, E., Alexander, M.P., Canaud, G., Logt, A. van de, Hamilton, P., Mousson, C., Vuiblet, V., Moyer, A.M., Guibert, S. de, Mrázová, P., Levi, C., Dubois, V., Cruzado, J.M., Torres, A. Cedillo, Gandhi, M.J., Yousfi, N., Tesar, V., OndrejViklický, ., Hourmant, M., Moulin, B., Rieu, P., Choukroun, G., Legendre, C., Wetzels, J., Brenchley, P., Castan, J.A. Ballarín, Debiec, H., Ronco, P., Berchtold, L., Letouzé, E., Alexander, M.P., Canaud, G., Logt, A. van de, Hamilton, P., Mousson, C., Vuiblet, V., Moyer, A.M., Guibert, S. de, Mrázová, P., Levi, C., Dubois, V., Cruzado, J.M., Torres, A. Cedillo, Gandhi, M.J., Yousfi, N., Tesar, V., OndrejViklický, ., Hourmant, M., Moulin, B., Rieu, P., Choukroun, G., Legendre, C., Wetzels, J., Brenchley, P., Castan, J.A. Ballarín, Debiec, H., and Ronco, P.

Abstract

Item does not contain fulltext, Recurrence of primary membranous nephropathy after transplantation occurs in up to 44% of patients and is driven by PLA2R antibody. Here, we asked whether genetic determinants could improve risk prediction. First, we sequenced PLA2R1 and HLA-D loci in 248 patients with primary membranous nephropathy and identified two independent single nucleotide polymorphisms (SNPs) at risk for primary membranous nephropathy at each locus. These were rs9271188 (intergenic between HLA-DRB1 and HLA-DQA1,) and rs9275086 (intergenic between HLA-DQB1 and HLA-DQA2) at the HLA-D locus along with rs6726925 and rs13018963 at the PLA2R1 locus. Then we investigated whether primary membranous nephropathy at-risk variants were associated with recurrence in a retrospective cohort of 105 donor-recipient pairs and a replication cohort of 40 pairs. Seven SNPs located between HLA-DRB1 and HLA-DQA1 in linkage disequilibrium with rs9271188, and three SNPs in the PLA2R1 region predicted recurrence when presented by the donor, but not when presented by the recipient. The two SNPs in the HLA-D region most strongly associated with recurrence (rs9271705 and rs9271550) were confirmed in the replication cohort. A genetic risk score based on the two best predictors at each locus (rs9271705, rs9271550, rs17830558, and rs3828323) identified a group of patients with high risk of recurrence. Thus, our results suggest that the graft contributes to recurrence of primary membranous nephropathy through the disease susceptibility HLA-D and PLA2R1 SNPs in an autoimmune milieu. Further studies are needed before implementation of genetic testing for these in donor selection.

Published
2021

27. La voie mTOR est activée dans les cellules endothéliales de patients atteints d’artérite de Takayasu et est médiée par les IgG sériques

Author

Hadjadj, J., primary, Canaud, G., additional, Mirault, T., additional, Samson, M., additional, Bruneval, P., additional, Régent, A., additional, Goulvestre, C., additional, Witko-Sarsat, V., additional, Costedoat-Chalumeau, N., additional, Guillevin, L., additional, Mouthon, L., additional, and Terrier, B., additional

Published
2017
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28. New and updated convex shape models of asteroids based on optical data from a large collaboration network

Author

Hanuš, J., primary, Ďurech, J., additional, Oszkiewicz, D. A., additional, Behrend, R., additional, Carry, B., additional, Delbo, M., additional, Adam, O., additional, Afonina, V., additional, Anquetin, R., additional, Antonini, P., additional, Arnold, L., additional, Audejean, M., additional, Aurard, P., additional, Bachschmidt, M., additional, Baduel, B., additional, Barbotin, E., additional, Barroy, P., additional, Baudouin, P., additional, Berard, L., additional, Berger, N., additional, Bernasconi, L., additional, Bosch, J-G., additional, Bouley, S., additional, Bozhinova, I., additional, Brinsfield, J., additional, Brunetto, L., additional, Canaud, G., additional, Caron, J., additional, Carrier, F., additional, Casalnuovo, G., additional, Casulli, S., additional, Cerda, M., additional, Chalamet, L., additional, Charbonnel, S., additional, Chinaglia, B., additional, Cikota, A., additional, Colas, F., additional, Coliac, J.-F., additional, Collet, A., additional, Coloma, J., additional, Conjat, M., additional, Conseil, E., additional, Costa, R., additional, Crippa, R., additional, Cristofanelli, M., additional, Damerdji, Y., additional, Debackère, A., additional, Decock, A., additional, Déhais, Q., additional, Déléage, T., additional, Delmelle, S., additional, Demeautis, C., additional, Dróżdż, M., additional, Dubos, G., additional, Dulcamara, T., additional, Dumont, M., additional, Durkee, R., additional, Dymock, R., additional, Escalante del Valle, A., additional, Esseiva, N., additional, Esseiva, R., additional, Esteban, M., additional, Fauchez, T., additional, Fauerbach, M., additional, Fauvaud, M., additional, Fauvaud, S., additional, Forné, E., additional, Fournel, C., additional, Fradet, D., additional, Garlitz, J., additional, Gerteis, O., additional, Gillier, C., additional, Gillon, M., additional, Giraud, R., additional, Godard, J.-P., additional, Goncalves, R., additional, Hamanowa, Hiroko, additional, Hamanowa, Hiromi, additional, Hay, K., additional, Hellmich, S., additional, Heterier, S., additional, Higgins, D., additional, Hirsch, R., additional, Hodosan, G., additional, Hren, M., additional, Hygate, A., additional, Innocent, N., additional, Jacquinot, H., additional, Jawahar, S., additional, Jehin, E., additional, Jerosimic, L., additional, Klotz, A., additional, Koff, W., additional, Korlevic, P., additional, Kosturkiewicz, E., additional, Krafft, P., additional, Krugly, Y., additional, Kugel, F., additional, Labrevoir, O., additional, Lecacheux, J., additional, Lehký, M., additional, Leroy, A., additional, Lesquerbault, B., additional, Lopez-Gonzales, M. J., additional, Lutz, M., additional, Mallecot, B., additional, Manfroid, J., additional, Manzini, F., additional, Marciniak, A., additional, Martin, A., additional, Modave, B., additional, Montaigut, R., additional, Montier, J., additional, Morelle, E., additional, Morton, B., additional, Mottola, S., additional, Naves, R., additional, Nomen, J., additional, Oey, J., additional, Ogłoza, W., additional, Paiella, M., additional, Pallares, H., additional, Peyrot, A., additional, Pilcher, F., additional, Pirenne, J.-F., additional, Piron, P., additional, Polińska, M., additional, Polotto, M., additional, Poncy, R., additional, Previt, J. P., additional, Reignier, F., additional, Renauld, D., additional, Ricci, D., additional, Richard, F., additional, Rinner, C., additional, Risoldi, V., additional, Robilliard, D., additional, Romeuf, D., additional, Rousseau, G., additional, Roy, R., additional, Ruthroff, J., additional, Salom, P. A., additional, Salvador, L., additional, Sanchez, S., additional, Santana-Ros, T., additional, Scholz, A., additional, Séné, G., additional, Skiff, B., additional, Sobkowiak, K., additional, Sogorb, P., additional, Soldán, F., additional, Spiridakis, A., additional, Splanska, E., additional, Sposetti, S., additional, Starkey, D., additional, Stephens, R., additional, Stiepen, A., additional, Stoss, R., additional, Strajnic, J., additional, Teng, J.-P., additional, Tumolo, G., additional, Vagnozzi, A., additional, Vanoutryve, B., additional, Vugnon, J. M., additional, Warner, B. D., additional, Waucomont, M., additional, Wertz, O., additional, Winiarski, M., additional, and Wolf, M., additional

Published
2016
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32. A Pivotal Circulating Antibody Panel for Pre-Transplant Prediction of FSGS Recurrence After Kidney Transplantation.

Author

Sigdel, T., primary, Delville, M., additional, Wei, C., additional, Li, J., additional, Hsieh, S., additional, Fornoni, A., additional, Burke, G., additional, Naesens, M., additional, Jackson, A., additional, Alachkar, N., additional, Canaud, G., additional, Legendre, C., additional, Anglicheau, D., additional, Reiser, J., additional, and Sarwal, M., additional

Published
2014
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34. Dépistage d’une contamination bactérienne des liquides de conservation des greffons rénaux : le mieux est-il l’ennemi du bien ?

Author

Bertrand, D., primary, Zahar, J.R., additional, Sartorius, A., additional, Sberro, R., additional, Martinez, F., additional, Snanoudj, R., additional, Canaud, G., additional, Zuber, J., additional, Anglicheau, D., additional, Join Lambert, O., additional, Legendre, C., additional, and Mamzer, M.F., additional

Published
2011
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36. Recurrence of nephrotic syndrome after transplantation in a mixed population of children and adults: course of glomerular lesions and value of the Columbia classification of histological variants of focal and segmental glomerulosclerosis (FSGS)

Author

Canaud, G., primary, Dion, D., additional, Zuber, J., additional, Gubler, M. C., additional, Sberro, R., additional, Thervet, E., additional, Snanoudj, R., additional, Charbit, M., additional, Salomon, R., additional, Martinez, F., additional, Legendre, C., additional, Noel, L. H., additional, and Niaudet, P., additional

Published
2009
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39. Glomerular collapse associated with subtotal renal infarction in kidney transplant recipients with multiple renal arteries.

Author

Canaud G, Bruneval P, Noël LH, Correas JM, Audard V, Zafrani L, Rabant M, Timsit MO, Martinez F, Anglicheau D, Thervet E, Patey N, Legendre C, and Zuber J

Abstract

Collapsing glomerulopathy is an aggressive kidney disease with rapid progression toward end-stage renal disease. Rare cases of de novo collapsing glomerulopathy have been reported during the post-transplant course and, in some instances, have been associated with renal graft vascular lesions. This finding raises the important question of whether ischemia could induce podocyte transdifferentiation, a hypothesis supported by evidence of hypoxia-inducible factor-dependent podocyte proliferation in HIV-associated nephropathy. We describe here 3 HIV-negative kidney transplant recipients in whom early graft biopsy performed in the vicinity of segmental graft infarction disclosed the typical features of glomerular collapse. Podocyte transdifferentiation was characterized by hallmark lesions, such as loss of mature podocyte phenotype, podocyte proliferation, and acquisition of a macrophage-like phenotype. Together, these data suggest that acute glomerular ischemia may lead to glomerular collapse in kidney transplants. [ABSTRACT FROM AUTHOR]

Published
2010
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44. Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens

Author

Bénédicte Stengel, Vladimir Tesar, Gerald B. Appel, Anne Boland, Gian Marco Ghiggeri, Maurizio Garozzo, Cristina Barlassina, Krzysztof Mucha, Dita Maixnerova, Giuliano Boscutti, Francesco Scolari, Marco Galliani, Monica Bodria, Rosanna Coppo, Marie Metzger, Daniele Cusi, Ali G. Gharavi, Claudio Ponticelli, Małgorzata Mizerska-Wasiak, Yifu Li, Emanuela Boer, Holly J. Snyder, Battista Fabio Viola, Sneh Lata, Krzysztof Kiryluk, Giovanni Giorgio Battaglia, Maddalena Gigante, Guillaume Canaud, Erika Salvi, Silvana Chicca, Rosaria Polci, Antonio Amoroso, Richard P. Lifton, Maria Roszkowska-Blaim, Sindhuri Prakash, Riccardo Magistroni, Hong Zhang, Andrea Magnano, Francesca Bertinetto, Ulf Panzer, Lise Thibaudin, Pasquale Zamboli, Giovanni M. Frascà, Leszek Pączek, Jürgen Floege, Loreto Gesualdo, Murim Choi, Robert J. Wyatt, Ping Hou, John Feehally, David Fasel, Frank Eitner, Nadia Dallera, Daniel P. Gale, Domenico Santoro, Thomas Rauen, Gianluca Caridi, Clara Fischman, Jingyuan Xie, Jan Novak, Yasar Caliskan, Pietro Ravani, Sandro Feriozzi, Lucia Del Vecchio, Jonathan Barratt, Renzo Mignani, Judit Nagy, Francesca Lugani, Marco Delsante, Tibor Kovács, Carmelita Marcantoni, Licia Peruzzi, Antonello Pani, Hitoshi Suzuki, Maurizio Salvadori, Simone Sanna-Cherchi, Silvana Savoldi, Miguel Verbitsky, Alessandro Amore, Nan Chen, Claudia Izzi, Ichiei Narita, Krzysztof Pawlaczyk, Bruce A. Julian, Samantha Shapiro, Mariarosa Maiorana, Landino Allegri, Marcin Zaniew, Marcella Rocchietti, Domenico Di Landro, François Berthoux, Shin Goto, Kiryluk, K, Li, Y, Scolari, F, Sanna Cherchi, S, Choi, M, Verbitsky, M, Fasel, D, Lata, S, Prakash, S, Shapiro, S, Fischman, C, Snyder, Hj, Appel, G, Izzi, C, Viola, Bf, Dallera, N, Del Vecchio, L, Barlassina, C, Salvi, E, Bertinetto, Fe, Amoroso, A, Savoldi, S, Rocchietti, M, Amore, A, Peruzzi, L, Coppo, R, Salvadori, M, Ravani, P, Magistroni, R, Ghiggeri, Gm, Caridi, G, Bodria, M, Lugani, F, Allegri, L, Delsante, M, Maiorana, M, Magnano, A, Frasca, G, Boer, E, Boscutti, G, Ponticelli, C, Mignani, R, Marcantoni, C, Di Landro, D, Santoro, D, Pani, A, Polci, R, Feriozzi, S, Chicca, S, Galliani, M, Gigante, M, Gesualdo, L, Zamboli, Pasquale, Battaglia, Gg, Garozzo, M, Maixnerová, D, Tesar, V, Eitner, F, Rauen, T, Floege, J, Kovacs, T, Nagy, J, Mucha, K, Pączek, L, Zaniew, M, Mizerska Wasiak, M, Roszkowska Blaim, M, Pawlaczyk, K, Gale, D, Barratt, J, Thibaudin, L, Berthoux, F, Canaud, G, Boland, A, Metzger, M, Panzer, U, Suzuki, H, Goto, S, Narita, I, Caliskan, Y, Xie, J, Hou, P, Chen, N, Zhang, H, Wyatt, Rj, Novak, J, Julian, Ba, Feehally, J, Stengel, B, Cusi, D, Lifton, Rp, and Gharavi, A. G.

Subjects
030232 urology & nephrology, Population genetics, Single-nucleotide polymorphism, Genome-wide association study, Biology, Polymorphism, Single Nucleotide, Inflammatory bowel disease, Article, Nephropathy, 03 medical and health sciences, Glomerulonephritis, 0302 clinical medicine, Polymorphism (computer science), Immunity, Ig Nephropathy, GWAS, Genetics, medicine, Humans, Age of Onset, Antigens, Polymorphism, Proto-Oncogene Proteins c-vav, IGA, 030304 developmental biology, HLA-D Antigens, 0303 health sciences, CD11b Antigen, CD11b, Glomerulonephritis, IGA, Genetic Pleiotropy, Antigens, CD11b, CARD Signaling Adaptor Proteins, Genetic Loci, Genome-Wide Association Study, Host-Pathogen Interactions, Intestines, Single Nucleotide, medicine.disease, 3. Good health, Immunology, Age of onset
Abstract

We performed a genome-wide association study (GWAS) of IgA nephropathy (IgAN), the most common form of glomerulonephritis, with discovery and follow-up in 20,612 individuals of European and East Asian ancestry. We identified six novel genome-wide significant associations, four in ITGAM-ITGAX, VAV3 and CARD9 and two new independent signals at HLA-DQB1 and DEFA. We replicated the nine previously reported signals, including known SNPs in the HLA-DQB1 and DEFA loci. The cumulative burden of risk alleles is strongly associated with age at disease onset. Most loci are either directly associated with risk of inflammatory bowel disease (IBD) or maintenance of the intestinal epithelial barrier and response to mucosal pathogens. The geo-spatial distribution of risk alleles is highly suggestive of multi-locus adaptation and the genetic risk correlates strongly with variation in local pathogens, particularly helminth diversity, suggesting a possible role for host-intestinal pathogen interactions in shaping the genetic landscape of IgAN.

Published
2014

47. PIK3CA -Related Disorders: From Disease Mechanism to Evidence-Based Treatments.

Author

Morin GM, Zerbib L, Kaltenbach S, Fraissenon A, Balducci E, Asnafi V, and Canaud G

Subjects
Humans, Mutation, Class I Phosphatidylinositol 3-Kinases genetics, Class I Phosphatidylinositol 3-Kinases metabolism
Abstract

Recent advances in genetic sequencing are transforming our approach to rare-disease care. Initially identified in cancer, gain-of-function mutations of the PIK3CA gene are also detected in malformation mosaic diseases categorized as PIK3CA -related disorders (PRDs). Over the past decade, new approaches have enabled researchers to elucidate the pathophysiology of PRDs and uncover novel therapeutic options. In just a few years, owing to vigorous global research efforts, PRDs have been transformed from incurable diseases to chronic disorders accessible to targeted therapy. However, new challenges for both medical practitioners and researchers have emerged. Areas of uncertainty remain in our comprehension of PRDs, especially regarding the relationship between genotype and phenotype, the mechanisms underlying mosaicism, and the processes involved in intercellular communication. As the clinical and biological landscape of PRDs is constantly evolving, this review aims to summarize current knowledge regarding PIK3CA and its role in nonmalignant human disease, from molecular mechanisms to evidence-based treatments.

Published
2024
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48. Paediatric strategy forum for medicinal product development of PI3-K, mTOR, AKT and GSK3β inhibitors in children and adolescents with cancer.

Author

Pearson AD, DuBois SG, Macy ME, de Rojas T, Donoghue M, Weiner S, Knoderer H, Bernardi R, Buenger V, Canaud G, Cantley L, Chung J, Fox E, Friend J, Glade-Bender J, Gorbatchevsky I, Gore L, Gupta A, Hawkins DS, Juric D, Lang LA, Leach D, Liaw D, Lesa G, Ligas F, Lindberg G, Lindberg W, Ludwinski D, Marshall L, Mazar A, McDonough J, Nysom K, Ours C, Pappo A, Parsons DW, Rosenfeld A, Scobie N, Smith M, Taylor D, Weigel B, Weinstein A, Karres D, and Vassal G

Subjects
Humans, Child, Adolescent, Phosphoinositide-3 Kinase Inhibitors therapeutic use, Phosphoinositide-3 Kinase Inhibitors pharmacology, MTOR Inhibitors therapeutic use, MTOR Inhibitors pharmacology, Protein Kinase Inhibitors therapeutic use, Protein Kinase Inhibitors pharmacology, Antineoplastic Agents therapeutic use, Antineoplastic Agents pharmacology, Signal Transduction drug effects, Neoplasms drug therapy, Neoplasms genetics, Glycogen Synthase Kinase 3 beta antagonists & inhibitors, Glycogen Synthase Kinase 3 beta metabolism, Proto-Oncogene Proteins c-akt antagonists & inhibitors, Proto-Oncogene Proteins c-akt metabolism, TOR Serine-Threonine Kinases antagonists & inhibitors
Abstract

Phosphatidylinositol 3-kinase (PI3-K) signalling pathway is a crucial path in cancer for cell survival and thus represents an intriguing target for new paediatric anti-cancer drugs. However, the unique clinical toxicities of targeting this pathway (resulting in hyperglycaemia) difficulties combining with chemotherapy, rarity of mutations in childhood tumours and concomitant mutations have resulted in major barriers to clinical translation of these inhibitors in treating both adults and children. Mutations in PIK3CA predict response to PI3-K inhibitors in adult cancers. The same mutations occur in children as in adults, but they are significantly less frequent in paediatrics. In children, high-grade gliomas, especially diffuse midline gliomas (DMG), have the highest incidence of PIK3CA mutations. New mutation-specific PI3-K inhibitors reduce toxicity from on-target PI3-Kα wild-type activity. The mTOR inhibitor everolimus is approved for subependymal giant cell astrocytomas. In paediatric cancers, mTOR inhibitors have been predominantly evaluated by academia, without an overall strategy, in empiric, mutation-agnostic clinical trials with very low response rates to monotherapy. Therefore, future trials of single agent or combination strategies of mTOR inhibitors in childhood cancer should be supported by very strong biological rationale and preclinical data. Further preclinical evaluation of glycogen synthase kinase-3 beta inhibitors is required. Similarly, even where there is an AKT mutation (∼0.1 %), the role of AKT inhibitors in paediatric cancers remains unclear. Patient advocates strongly urged analysing and conserving data from every child participating in a clinical trial. A priority is to evaluate mutation-specific, central nervous system-penetrant PI3-K inhibitors in children with DMG in a rational biological combination. The choice of combination, should be based on the genomic landscape e.g. PTEN loss and resistance mechanisms supported by preclinical data. However, in view of the very rare populations involved, innovative regulatory approaches are needed to generate data for an indication., Competing Interests: Declaration of Competing Interest RB is an employee of Genentech, A Member of the Roche Group, South San Francisco, CA USA. JC is an employee of Bayer Healthcare Pharmaceuticals, Whippany, NJ, USA. SGD has received consulting fees for advisory board participation from Amgen, Bayer, InhibRx, and Jazz and travel funding from Loxo, Roche, and Salarius. JF is an employee of Kazia Therapeutics. IG an employee of Celcuity. HK is an employee of Loxo Oncology at Lilly. DL is an employee of Merck Sharp & Dohme. AM is an employee of Actuate. MEM has receiving consulting fees for advisory board participation from Ymabs Therapeutics, Recordati and travel funding from Bayer. KN has received consulting fees for advisory board participation from Y-mAbs, EUSA Pharma and Bayer, fees for teaching from Bayer and serving on a data monitoring committee from Lilly. ADJP has consulted for Lilly, Norgine and Developmental Therapeutics Consortium Limited and been an advisor for Amgen. All remaining authors have declared no conflicts of interest., (Copyright © 2024 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Published
2024
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50. A cystic and bullous lung disease associated with a PIK3CA-related overgrowth syndrome.

Author

Halitim P, Pastré J, Mirault T, Canaud G, and Israël-Biet D

Abstract

A bullous and cystic lung disease diagnosed in the context of a clinically and genetically diagnosed PROS https://bit.ly/48GnoJy., Competing Interests: Conflict of interest: P. Halitim, J. Pastré, T. Mirault and D. Israël-Biet have no conflicts to declare. Conflict of interests: G. Canaud declares a patent application (“BYL719 (alpelisib) for use in the treatment of PIK3CA-related overgrowth spectrum” #WO2017140828A1) has been filed by INSERM (Institut National de la Santé et de la Recherche Médicale), Centre National De La Recherche Scientifique, Université Paris Descartes and Assistance Publique-Hôpitaux De Paris for the use of BYL719 (alpelisib) in the treatment of PIK3CA-related overgrowth spectrum (PROS/CLOVES syndrome). G. Canaud is the inventor. This patent is licensed to Novartis. G. Canaud receives or has received consulting fees from Novartis, Fresenius Medical Care, Vaderis, Alkermes, IPSEN and BridgeBio., (Copyright ©The authors 2024.)

Published
2024
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