Deep resequencing of GWAS loci identifies rare variants in CARD9, IL23R and RNF186 that are associated with ulcerative colitis

Autor: Beaudoin, Melissa, Goyette, Philippe, Goel, Gautam, Louis, E., Mansfield, J. C., Mathew, C. G., McGovern, D. P., Mitrovic, M., Montgomery, G. W., Mowat, C., Newman, W., Palmieri, O., Panés, J., Lagace, Caroline, Parkes, M., Phillips, A., Ponsioen, C. Y., Potocnik, U., Prescott, N. J., Proctor, D. D., Radford-Smith, G. L., Regueiro, M., Rioux, J. D., Roberts, R., Annese, Vito, Rotter, J. I., Rutgeerts, P., Sanderson, J., Sans, M., Satsangi, J., Schreiber, S., Schumm, P., Seibold, F., Sharma, Y., Silverberg, M. S., Bitton, Alain, Simms, L. A., Steinhart, A., Targan, S. R., Taylor, K. D., Torkvist, L., Vermeire, S., Halfvarson, J., Verspaget, H. W., De Vos, M., Walters, T., Begun, Jakob, Wang, K., Weersma, R. K., Whiteman, D., Wijmenga, C., Brant, Steven R., Bresso, Francesca, Cho, Judy H., Duerr, Richard H., Halfvarson, Jonas, Boucher, Gabrielle, McGovern, Dermot P. B., Radford-Smith, Graham, Schreiber, Stefan, Schumm, Philip L., Sharma, Yashoda, Silverberg, Mark S., Weersma, Rinse K., Quebec IBD Genetics Consortium, NIDDK IBD Genetics Consortium, International IBD Genetics Consortium (IIBDGC), Lo, Ken Sin, D'Amato, Mauro, Vermeire, Severine, Franke, Andre, Lettre, Guillaume, Xavier, Ramnik J., Daly, Mark J., Rioux, John D., Aumais, G., Bernard, E. J., Bitton, A., Rivas, Manuel A., Cohen, A., Deslandres, C., Lahaie, R., Paré, P., Brant, S. R., Cho, J. H., Duerr, R. H., Stevens, Christine, Ahmad, T., Anderson, C. A., Annese, V., Baldassano, R. N., Balschun, T., Barclay, M., Barrett, J. C., Bayless, T. M., Bis, J. C., Alikashani, Azadeh, Brand, S., Bumpstead, S., Buning, C., Colombel, J. F., Cottone, M., D'Amato, M., D'Inca, R., Ladouceur, Martin, Daly, M. J., Denson, T., Dubinsky, M., Edwards, C., Ellinghaus, D., Florin, T., Franchimont, D., Franke, A., Gearry, R., Ellinghaus, David, Georges, M., Glas, J., Van Gossum, A., Griffiths, A. M., Guthery, S. L., Hakonarson, H., Haritunians, T., Hugot, J. P., de Jong, D. J., Jostins, L., Torkvist, Leif, Kugathasan, S., Kullak-Ublick, G., Latiano, A., Laukens, D., Lawrance, I., Lee, J., Lees, C. W., Lemann, M., Levine, A., Libioulle, C.

Publikováno v: Plos Genetics, 9, 9, pp. e1003723
PLoS genetics, 9(9):e1003723. PUBLIC LIBRARY SCIENCE
PLoS Genetics, Vol 9, Iss 9, p e1003723 (2013)
PLoS Genetics
PLoS Genetics, 9(9)
Plos Genetics, 9, e1003723
PLOS genetics, 9 (9
Lees, C & Satsangi, J 2013, ' Deep resequencing of GWAS loci identifies rare variants in CARD9, IL23R and RNF186 that are associated with ulcerative colitis ', PLoS Genetics, vol. 9, no. 9, pp. e1003723 . https://doi.org/10.1371/journal.pgen.1003723
PLoS genetics 9(9), e1003723 (2013). doi:10.1371/journal.pgen.1003723
PLOS GENETICS

Genome-wide association studies and follow-up meta-analyses in Crohn's disease (CD) and ulcerative colitis (UC) have recently identified 163 disease-associated loci that meet genome-wide significance for these two inflammatory bowel diseases (IBD). T

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2848aa5d583f624e11893cb2f15d02f6
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/125308

Enteral metronidazole for the prevention of graft-versus-host disease in pediatric marrow transplant recipients: results of a pilot study.

Autor: Guthery, S L, Heubi, J E, Filipovich, A

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Autor: Haijer, Floris W.¹ (AUTHOR), Van Vliet, Cornelis B.¹ (AUTHOR), Brusse-Keizer, Marjolein G. J.² (AUTHOR), Van der Palen, Job A. M.² (AUTHOR), Kerbert-Dreteler, Marjo J.¹ (AUTHOR), Kolkman, Jeroen J.¹ (AUTHOR)

Publikováno v: International Journal of Hepatology. 2/8/2023, p1-7. 7p.

Deep resequencing of GWAS loci identifies rare variants in CARD9, IL23R and RNF186 that are associated with ulcerative colitis

Autor: Beaudoin, Melissa, Goyette, Philippe, Boucher, Gabrielle, Lo, Ken Sin, Rivas, Manuel A., Stevens, Christine, Alikashani, Azadeh, Ladouceur, Martin, Ellinghaus, David, Torkvist, Leif, Goel, Gautam, Lagace, Caroline, Annese, Vito, Bitton, Alain, Begun, Jakob, Brant, Steven R., Bresso, Francesca, Cho, Judy H., Duerr, Richard H., Halfvarson, Jonas, McGovern, Dermot P. B., Radford-Smith, Graham, Schreiber, Stefan, Schumm, Philip L., Sharma, Yashoda, Silverberg, Mark S., Weersma, Rinse K., Quebec IBD Genetics Consortium, NIDDK IBD Genetics Consortium, International IBD Genetics Consortium (IIBDGC), D'Amato, Mauro, Vermeire, Severine, Franke, Andre, Lettre, Guillaume, Xavier, Ramnik J., Daly, Mark J., Rioux, John D., Aumais, G., Bernard, E. J., Bitton, A., Cohen, A., Deslandres, C., Lahaie, R., Paré, P., Rioux, J. D., Brant, S. R., Cho, J. H., Duerr, R. H., McGovern, D. P., Silverberg, M. S., Ahmad, T., Anderson, C. A., Annese, V., Baldassano, R. N., Balschun, T., Barclay, M., Barrett, J. C., Bayless, T. M., Bis, J. C., Brand, S., Bumpstead, S., Buning, C., Colombel, J. F., Cottone, M., D'Amato, M., D'Inca, R., Daly, M. J., Denson, T., Dubinsky, M., Edwards, C., Ellinghaus, D., Florin, T., Franchimont, D., Franke, A., Gearry, R., Georges, M., Glas, J., Van Gossum, A., Griffiths, A. M., Guthery, S. L., Hakonarson, H., Haritunians, T., Hugot, J. P., De Jong, D. J., Jostins, L., Kugathasan, S., Kullak-Ublick, G., Latiano, A., Laukens, D., Lawrance, I., Lee, J., Lees, C. W., Lemann, M., Levine, A., Libioulle, C., Louis, E., Mansfield, J. C., Mathew, C. G., Mitrovic, M., Montgomery, G. W., Mowat, C., Newman, W., Palmieri, O., Panés, J., Parkes, M., Phillips, A., Ponsioen, C. Y., Potocnik, U., Prescott, N. J., Proctor, D. D., Radford-Smith, G. L., Regueiro, M., Roberts, R., Rotter, J. I., Rutgeerts, P., Sanderson, J., Sans, M., Satsangi, J., Schreiber, S., Schumm, P., Seibold, F., Sharma, Y., Simms, L. A., Steinhart, A., Targan, S. R., Taylor, K. D., Torkvist, L., Vermeire, S., Halfvarson, J., Verspaget, H. W., De Vos, M., Walters, T., Wang, K., Weersma, R. K., Whiteman, D., Wijmenga, C.

PLoS genetics 9(9), e1003723 (2013). doi:10.1371/journal.pgen.1003723
Published by Public Library of Science, San Francisco, Calif.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7d0a2ab22629c26845997b015d84c81a

Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia.

Autor: Nicholas, Thomas J.¹ (AUTHOR) thomas.nicholas@utah.edu, Al‐Sweel, Najla^2,3 (AUTHOR), Farrell, Andrew¹ (AUTHOR), Mao, Rong^2,3 (AUTHOR), Bayrak‐Toydemir, Pinar^2,3 (AUTHOR), Miller, Christine E.² (AUTHOR), Bentley, Dawn⁴ (AUTHOR), Palmquist, Rachel^5,6 (AUTHOR), Moore, Barry¹ (AUTHOR), Hernandez, Edgar J.¹ (AUTHOR), Cormier, Michael J.¹ (AUTHOR), Fredrickson, Eric² (AUTHOR), Noble, Katherine² (AUTHOR), Rynearson, Shawn¹ (AUTHOR), Holt, Carson¹ (AUTHOR), Karren, Mary Anne¹ (AUTHOR), Bonkowsky, Joshua L.^5,6 (AUTHOR), Tristani‐Firouzi, Martin⁷ (AUTHOR), Yandell, Mark¹ (AUTHOR), Marth, Gabor¹ (AUTHOR)

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