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4. Observatoire Vendéen indépendant des syndromes Coronarien aigus avec sus-décalage du segment ST (Registre OVISCA). Évaluation départementale, évolution démographique, mortalité, délais de prise en charge

Author

Boiffard, E., Dimet, J., Baron, O., Billon, O., Boivineau, C., Charvet, M., Doizon, T., Federspiel, C., Flori, M., Georges, J.-L., Haddad, G., Lipp, D., Nguyen, J.-O., Mouhoub, D., Pernollet, P., Philippot, M., Pouliquen, H., Roy, N., Trebouet, E., Turlotte, G., Zeninari, B., and Orion, L.

Published
2019
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18. [177Lu]Lu-PSMA-617 dans le cancer de la prostate métastatique positif au PSMA et résistant à la castration : analyses des sous-groupes de traitement antérieurs et concomitants de l’essai vision

Author

Bernard Tessier, A., primary, Fizazi, K., additional, Vaishampayan, N., additional, Morris, M., additional, Krause, B., additional, Vogelzang, N., additional, Kendi, A., additional, Nordquist, L., additional, Nagarajah, J., additional, Beer, T., additional, El-Haddad, G., additional, and Sartor, O., additional

Published
2022
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20. 1372P Association between prostate-specific antigen decline and clinical outcomes in patients with metastatic castration-resistant prostate cancer in the VISION trial

Author

Armstrong, A.J., primary, Sartor, O., additional, Saad, F., additional, Czernin, J., additional, Shore, N.D., additional, Kendi, A.T., additional, Beer, T.M., additional, Vaishampayan, N., additional, El-Haddad, G., additional, Wu, J., additional, Mirante, O., additional, and Morris, M.J., additional

Published
2022
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31. Étude de phase 3 du 177Lu-PSMA-617 dans le traitement des patients atteints d’un cancer de la prostate métastatique résistant à la castration (CPRCm) (VISION)

Author

Fizazi, K., primary, Flippot, R., additional, Morris, M.J., additional, De Bono, J., additional, Chi, K.N., additional, Herrmann, K., additional, Rahbar, K., additional, Tagawa, S.T., additional, Nordquist, L.T., additional, Vaishampayan, N., additional, El-Haddad, G., additional, Park, C.H., additional, Beer, T.M., additional, Pérez-Contreras, W.J., additional, DeSilvio, M., additional, Kpamegan, E., additional, Gericke, G., additional, Messmann, R.A., additional, Krause, B.J., additional, and Sartor, O., additional

Published
2022
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32. Re: Lutetium-177-PSMA-617 for Metastatic Castration-Resistant Prostate Cancer

Author

Sartor, O., de Bono, J., Chi, K.N., Fizazi, K., Herrmann, Ken, Rahbar, K., Tagawa, S.T., Nordquist, L.T., Vaishampayan, N., El-Haddad, G., Park, C.H., Beer, T.M., Armour, A., Perez-Contreras, W.J., DeSilvio, M., Kpamegan, E., Gericke, G., Messmann, R.A., Morris, M.J., and Krause, B.J.

Subjects
Medizin
Published
2022

33. Erratum: Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome (The American Journal of Human Genetics (2018) 103(3) (431–439), (S0002929718302374), (10.1016/j.ajhg.2018.07.010))

Author

Ghosh, S. G., Becker, K., Huang, H., Salazar, T. D., Chai, G., Salpietro, V., Al-Gazali, L., Waisfisz, Q., Wang, H., Vaux, K. K., Stanley, V., Manole, A., Akpulat, U., Weiss, M. M., Efthymiou, S., Hanna, M. G., Minetti, C., Striano, P., Pisciotta, L., De Grandis, E., Altmuller, J., Weixler, L., Nurnberg, P., Thiele, H., Yis, U., Okur, T. D., Polat, A. I., Amiri, N., Doosti, M., Karimani, E. G., Toosi, M. B., Haddad, G., Karakaya, M., Wirth, B., van Hagen, J. M., Wolf, N. I., Maroofian, R., Houlden, H., Cirak, S., Gleeson, J. G., Human genetics, Pediatric surgery, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, and Amsterdam Reproduction & Development (AR&D)

Abstract

(The American Journal of Human Genetics 103, 431–439; September 6, 2018) Lisa Weixler has been added to the author list for her experimental and scientific contributions to the biophysical analysis of wild-type and mutant proteins. Her contributions were already mentioned in the acknowledgments. The authors apologize for initially only listing her in the acknowledgments and for the inconvenience. The author list has been corrected online and appears correctly here, and Lisa Weixler's affiliation is indicated as footnote 3: Center for Molecular Medicine Cologne, Cologne, Germany.

Published
2021

39. Abstracts of original contributions ASNC 2004 9th annual scientific session September 3-–October 3, 2004 New York, New York

Author

Abidov, A, Hachamovitch, R, Friedman, JD, Hayes, SW, Kang, X, Cohen, I, Germano, G, Berman, DS, Kjaer, A, Cortsen, A, Federspiel, M, Hesse, B, Holm, S, O’Connor, M, Dhalla, AK, Wong, M-Y, Wang, W-Q, Belardinelli, L, Therapeutics, CV, Epps, A, Dave, S, Brewer, K, Chiaramida, S, Gordon, L, Hendrix, GH, Feng, B, Pretorius, PH, Bruyant, PP, Boening, G, Beach, RD, Gifford, HC, King, MA, Fessler, JA, Hsu, B-L, Case, JA, Gegen, LL, Hertenstein, GK, Cullom, SJ, Bateman, TM, Akincioglu, C, Abidov, A, Nishina, H, Kavanagh, P, Kang, X, Aboul-Enein, F, Yang, L, Hayes, S, Friedman, J, Berman, D, Germano, G, Santana, CA, Rivero, A, Folks, RD, Grossman, GB, Cooke, CD, Hunsche, A, Faber, TL, Halkar, R, Garcia, EV, Hansen, CL, Silver, S, Kaplan, A, Rasalingam, R, Awar, M, Shirato, S, Reist, K, Htay, T, Mehta, D, Cho, J-H, Heo, J, Dubovsky, E, Calnon, DA, Grewal, KS, George, PB, Richards, DR, Hsi, DH, Singh, N, Meszaros, Z, Thomas, JL, Reyes, E, Loong, CY, Latus, K, Anagnostopoulos, C, Underwood, SR, Kostacos, EJ, Araujo, LI, Kostacos, EJ, Araujo, LI, Lewin, HC, Hyun, MC, DePuey, EG, Tanaka, H, Chikamori, T, Igarashi, Y, Harafuji, K, Usui, Y, Yanagisawa, H, Hida, S, Yamashina, A, Nasr, HA, Mahmoud, SA, Dalipaj, MM, Golanowski, LN, Kemp, RA de, Chow, BJ, Beanlands, RS, Ruddy, TD, Michelena, HI, Mikolich, BM, McNelis, P, Decker, WA Van, Stathopoulos, I, Duncan, S- A, Isasi, C, Travin, MI, Kritzman, JN, Ficaro, EP, Corbett, JR, Allison, JS, Weinsaft, JW, Wong, FJ, Szulc, M, Okin, PM, Kligfield, P, Harafuji, K, Chikamori, T, Igarashi, Y, Tanaka, H, Usui, Y, Yanagisawa, H, Hida, S, Ishimaru, S, Yamashima, A, Giedd, KN, Bergmann, SR, Shah, S, Emmett, L, Allman, KC, Magee, M, Van Gaal, W, Kritharides, L, Freedman, B, Abidov, A, Gerlach, J, Akincioglu, C, Friedman, J, Kavanagh, P, Miranda, R, Germano, G, Berman, DS, Hayes, SW, Damera, N, Lone, B, Singh, R, Shah, A, Yeturi, S, Prasad, Y, Blum, S, Heller, EN, Bhalodkar, NC, Koutelou, M, Kollaros, N, Theodorakos, A, Manginas, A, Leontiadis, E, Kouzoumi, A, Cokkinos, D, Mazzanti, M, Marini, M, Cianci, G, Perna, GP, Pai, M, Greenberg, MD, Liu, F, Frankenberger, O, Kokkinos, P, Hanumara, D, Goheen, E, Wu, C, Panagiotakos, D, Fletcher, R, Greenberg, MD, Liu, F, Frankenberger, O, Kokkinos, P, Hanumara, D, Goheen, E, Rodriguez, OJ, Iyer, VN, Lue, M, Hickey, KT, Blood, DK, Bergmann, SR, Bokhari, S, Chareonthaitawee, P, Christensen, SD, Allen, JL, Kemp, BJ, Hodge, DO, Ritman, EL, Gibbons, RJ, Smanio, P, Riva, G, Rodriquez, F, Tricoti, A, Nakhlawi, A, Thom, A, Pretorius, PH, King, MA, Dahlberg, S, Leppo, J, Slomka, PJ, Nishina, H, Berman, DS, Akincioglu, C, Abidov, A, Friedman, JD, Hayes, SW, Germano, G, Petrovici, R, Husain, M, Lee, DS, Nanthakumar, K, Iwanochko, RM, Brunken, RC, DiFilippo, F, Neumann, DR, Bybel, B, Herrington, B, Bruckbauer, T, Howe, C, Lohmann, K, Hayden, C, Chatterjee, C, Lathrop, B, Brunken, RC, Chen, MS, Lohmann, KA, Howe, WC, Bruckbauer, T, Kaczur, T, Bybel, B, DiFilippo, FP, Druz, RS, Akinboboye, OA, Grimson, R, Nichols, KJ, Reichek, N, Ngai, K, Dim, R, Ho, K- T, Pary, S, Ahmed, SU, Ahlberg, A, Cyr, G, Vitols, PJ, Mann, A, Alexander, L, Rosenblatt, J, Mieres, J, Heller, GV, Ahmed, SU, Ahlberg, AW, Cyr, G, Navare, S, O’Sullivan, D, Heller, GV, Chiadika, S, Lue, M, Blood, DK, Bergmann, SR, Bokhari, S, Heston, TF, Heller, GV, Cerqueira, MD, Jones, PG, Bryngelson, JR, Moutray, KL, Gegen, LL, Hertenstein, GK, Moser, K, Case, JA, Zellweger, MJ, Burger, PC, Pfisterer, ME, Mueller-Brand, J, Kang, WJ, Lee, BI, Lee, DS, Paeng, JC, Lee, JS, Chung, J-K, Lee, MC, To, BN, O’Connell, WJ, Botvinick, EH, Duvall, WL, Croft, LB, Einstein, AJ, Fisher, JE, Haynes, PS, Rose, RK, Henzlova, MJ, Prasad, Y, Vashist, A, Blum, S, Sagar, P, Heller, EN, Kuwabara, Y, Nakayama, K, Tsuru, Y, Nakaya, J, Shindo, S, Hasegawa, M, Komuro, I, Liu, Y-H, Wackers, F, Natale, D, DePuey, G, Taillefer, R, Araujo, L, Kostacos, E, Allen, S, Delbeke, D, Anstett, F, Kansal, P, Calvin, JE, Hendel, RC, Gulati, M, Pratap, P, Takalkar, A, Kostacos, E, Alavi, A, Araujo, L, Melduni, RM, Duncan, S-A, Travin, MI, Isasi CR, Rivero, A, Santana, C, Esiashvili, S, Grossman, G, Halkar, R, Folks, RD, Garcia, EV, Su, H, Dobrucki, LW, Chow, C, Hu, X, Bourke, BN, Cavaliere, P, Hua, J, Sinusas, AJ, Spinale, FG, Sweterlitsch, S, Azure, M, Edwards, DS, Sudhakar, S, Chyun, DA, Young, LH, Inzucchi, SE, Davey, JA, Wackers, FJ, Noble, GL, Navare, SM, Calvert, J, Hussain, SA, Ahlberg, AM, Katten, DM, Boden, WE, Heller, GV, Shaw, LJ, Yang, Y, Antunes, A, Botelho, MF, Gomes, C, de Lima, JJP, Silva, ML, Moreira, JN, Simões, S, GonÇalves, L, Providência, LA, Elhendy, A, Bax, JJ, Schinkel, AF, Valkema, R, van Domburg, RT, Poldermans, D, Arrighi, J, Lampert, R, Burg, M, Soufer, R, Veress, AI, Weiss, JA, Huesman, RH, Gullberg, GT, Moser, K, Case, JA, Loong, CY, Prvulovich, EM, Reyes, E, Aswegen, A van, Anagnostopoulos, C, Underwood, SR, Htay, T, Mehta, D, Sun, L, Lacy, J, Heo, J, Brunken, RC, Kaczur, T, Jaber, W, Ramakrishna, G, Miller, TD, O’connor, MK, Gibbons, RJ, Bural, GG, Mavi, A, Kumar, R, El-Haddad, G, Srinivas, SM, A Alavi, El-Haddad, G, Alavi, A, Araujo, L, Thomas, GS, Johnson, CM, Miyamoto, MI, Thomas, JJ, Majmundar, H, Ryals, LA, Ip, ZTK, Shaw, LJ, Bishop, HA, Carmody, JP, Greathouse, WG, Yanagisawa, H, Chikamori, T, Tanaka, H, Usui, Y, Igarashi, U, Hida, S, Morishima, T, Tanaka, N, Takazawa, K, Yamashina, A, Diedrichs, H, Weber, M, Koulousakis, A, Voth, E, Schwinger, RHG, Mohan, HK, Livieratos, L, Gallagher, S, Bailey, DL, Chambers, J, Fogelman, I, Sobol, I, Barst, RJ, Nichols, K, Widlitz, A, Horn, E, Bergmann, SR, Chen, J, Galt, JR, Durbin, MK, Ye, J, Shao, L, Garcia, EV, Mahenthiran, J, Elliott, JC, Jacob, S, Stricker, S, Kalaria, VG, Sawada, S, Scott, JA, Aziz, K, Yasuda, T, Gewirtz, H, Hsu, BL, Moutray, K, Udelson, JE, Barrett, RJ, Johnson, JR, Menenghetti, C., Taillefer, R, Ruddy, T, Hachamovitch, R, Jenkins, SA, Massaro, J, Haught, H, Lim, CS, Underwood, R, Rosman, J, Hanon, S, Shapiro, M, Schweitzer, P, VanTosh, A, Jones, S, Harafuji, K, Giedd, K N, Johnson, N P, Berliner, J I, Sciacca, R R, Chou, R L, Hickey, K T, Bokhari, S S, Rodriguez, O, Bokhari, S, Moser, KW, Moutray, KL, Koutelou, M, Theodorakos, A, Kollaros, N, Manginas, A, Leontiadis, E, Cokkinos, D, Mazzanti, M, Marini, M, Cianci, G, Perna, GP, Nanasato, M, Fujita, H, Toba, M, Nishimura, T, Nikpour, M, Urowitz, M, Gladman, D, Ibanez, D, Harvey, P, Floras, J, Rouleau, J, Iwanochko, R, Pai, M, Guglin, ME, Ginsberg, FL, Reinig, M, Parrillo, JE, Cha, R, Merhige, ME, Watson, GM, Oliverio, JG, Shelton, V, Frank, SN, Perna, AF, Ferreira, MJ, Ferrer-Antunes, AI, Rodrigues, V, Santos, F, Lima, J, Cerqueira, MD, Magram, MY, Lodge, MA, Babich, JW, Dilsizian, V, Line, BR, Bhalodkar, NC, Lone, B, Singh, R, Prasad, Y, Yeturi, S, Blum, S, Heller, EN, Rodriguez, OJ, Skerrett, D, Charles, C, Shuster, MD, Itescu, S, Wang, TS, Bruyant, PP, Pretorius, PH, Dahlberg, S, King, MA, Petrovici, R, Iwanochko, RM, Lee, DS, Emmett, L, Husain, M, Hosokawa, R, Ohba, M, Kambara, N, Tadamura, E, Kubo, S, Nohara, R, Kita, T, Thompson, RC, McGhie, AI, O’Keefe, JH, Christenson, SD, Chareonthaitawee, P, Kemp, BJ, Jerome, S, Russell, TJ, Lowry, DR, Coombs, VJ, Moses, A, Gottlieb, SO, Heiba, SI, Yee, G, Coppola, J, Elmquist, T, Braff, R, Youssef, I, Ambrose, JA, Abdel-Dayem, HM, Canto, J, Dubovsky, E, Scott, J, Terndrup, TE, Faber, TL, Folks, RD, Dim, UR, Mclaughlin, J, Pollepalle, D, Schapiro, W, Wang, Y, Akinboboye, O, Ngai, K, Druz, RS, Polepalle, D, Phippen-Nater, B, Leonardis, J, and Druz, R

Published
2004
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43. Collagen IValpha345 dysfunction in glomerular basement membrane diseases. I. Discovery of a COL4A3 variant in familial Goodpasture's and Alport diseases.

Author

Pokidysheva E.N., Seeger H., Pedchenko V., Chetyrkin S., Bergmann C., Abrahamson D., Cui Z.W., Delpire E., Fervenza F.C., Fidler A.L., Gaspert A., Grohmann M., Gross O., Haddad G., Harris R.C., Kashtan C., Fogo A.B., Kitching A.R., Lorenzen J.M., McAdoo S., Pusey C.D., Segelmark M., Simmons A., Voziyan P.A., Wagner T., Wuthrich R.P., Zhao M.-H., Boudko S.P., Kistler A.D., Hudson B.G., Pokidysheva E.N., Seeger H., Pedchenko V., Chetyrkin S., Bergmann C., Abrahamson D., Cui Z.W., Delpire E., Fervenza F.C., Fidler A.L., Gaspert A., Grohmann M., Gross O., Haddad G., Harris R.C., Kashtan C., Fogo A.B., Kitching A.R., Lorenzen J.M., McAdoo S., Pusey C.D., Segelmark M., Simmons A., Voziyan P.A., Wagner T., Wuthrich R.P., Zhao M.-H., Boudko S.P., Kistler A.D., and Hudson B.G.

Abstract

Diseases of the glomerular basement membrane (GBM), such as Goodpasture's disease (GP) and Alport syndrome (AS), are a major cause of chronic kidney failure and an unmet medical need. Collagen IValpha345 is an important architectural element of the GBM that was discovered in previous research on GP and AS. How this collagen enables GBM to function as a permselective filter and how structural defects cause renal failure remain an enigma. We found a distinctive genetic variant of collagen IValpha345 in both a familial GP case and four AS kindreds that provided insights into these mechanisms. The variant is an 8-residue appendage at the C-terminus of the alpha3 subunit of the alpha345 hexamer. A knock-in mouse harboring the variant displayed GBM abnormalities and proteinuria. This pathology phenocopied AS, which pinpointed the alpha345 hexamer as a focal point in GBM function and dysfunction. Crystallography and assembly studies revealed underlying hexamer mechanisms, as described in Boudko et al. and Pedchenko et al. Bioactive sites on the hexamer surface were identified where pathogenic pathways of GP and AS converge and, potentially, that of diabetic nephropathy (DN). We conclude that the hexamer functions include signaling and organizing macromolecular complexes, which enable GBM assembly and function. Therapeutic modulation or replacement of alpha345 hexamer could therefore be a potential treatment for GBM diseases, and this knock-in mouse model is suitable for developing gene therapies.Copyright © 2021 THE AUTHORS. Published by Elsevier Inc on behalf of American Society for Biochemistry and Molecular Biology. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).

Published
2021

44. Collagen IValpha345 dysfunction in glomerular basement membrane diseases. I. Discovery of a COL4A3 variant in familial Goodpasture's and Alport diseases.

Author

Kistler A.D., Wuthrich R.P., Zhao M.-H., Boudko S.P., Hudson B.G., Kitching A.R., Pokidysheva E.N., Seeger H., Pedchenko V., Chetyrkin S., Bergmann C., Abrahamson D., Cui Z.W., Delpire E., Fervenza F., Fidler A.L., Fogo A.B., Gaspert A., Grohmann M., Gross O., Haddad G., Harris R.C., Kashtan C., Lorenzen J.M., McAdoo S., Pusey C.D., Segelmark M., Simmons A., Voziyan P.A., Wagner T., Kistler A.D., Wuthrich R.P., Zhao M.-H., Boudko S.P., Hudson B.G., Kitching A.R., Pokidysheva E.N., Seeger H., Pedchenko V., Chetyrkin S., Bergmann C., Abrahamson D., Cui Z.W., Delpire E., Fervenza F., Fidler A.L., Fogo A.B., Gaspert A., Grohmann M., Gross O., Haddad G., Harris R.C., Kashtan C., Lorenzen J.M., McAdoo S., Pusey C.D., Segelmark M., Simmons A., Voziyan P.A., and Wagner T.

Abstract

Diseases of the glomerular basement membrane (GBM), such as Goodpasture's disease (GP) and Alport syndrome (AS), are a major cause of chronic kidney failure and an unmet medical need. Collagen IValpha345 is an important architectural element of the GBM that was discovered in previous research on GP and AS. How this collagen enables GBM to function as a permselective filter and how structural defects cause renal failure remain an enigma. We found a distinctive genetic variant of collagen IValpha345 in both a familial GP case and four AS kindreds that provided insights into these mechanisms. The variant is an 8-residue appendage at the C-terminus of the alpha3 subunit of the alpha345 hexamer. A knock-in mouse harboring the variant displayed GBM abnormalities and proteinuria. This pathology phenocopied AS, which pinpointed the alpha345 hexamer as a focal point in GBM function and dysfunction. Crystallography and assembly studies revealed underlying hexamer mechanisms, as described in Companion Papers II and III. Bioactive sites on the hexamer surface were identified where pathogenic pathways of GP and AS converge, and, potentially, that of diabetic nephropathy (DN). We conclude that the hexamer functions include signaling and organizing macromolecular complexes, which enable GBM assembly and function. Therapeutic modulation or replacement of alpha345 hexamer could therefore be a potential treatment for GBM diseases, and this knock-in mouse model is suitable for developing gene therapies.Copyright © 2021 The Authors. Published by Elsevier Inc. All rights reserved.

Published
2021

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