المؤلفون: Brown, GJ, Canete, PF, Wang, H, Medhavy, A, Bones, J, Roco, JA, He, Y, Qin, Y, Cappello, J, Ellyard, JI, Bassett, K, Shen, Q, Burgio, G, Zhang, Y, Turnbull, C, Meng, X, Wu, P, Cho, E, Miosge, LA, Andrews, TD, Field, MA, Tvorogov, D, Lopez, AF, Babon, JJ, Lopez, CA, Gonzalez-Murillo, A, Garulo, DC, Pascual, V, Levy, T, Mallack, EJ, Calame, DG, Lotze, T, Lupski, JR, Ding, H, Ullah, TR, Walters, GD, Koina, ME, Cook, MC, Shen, N, de Lucas Collantes, C, Corry, B, Gantier, MP, Athanasopoulos, V, Vinuesa, CG

العلاقة: pii: 10.1038/s41586-022-04642-z; Brown, G. J., Canete, P. F., Wang, H., Medhavy, A., Bones, J., Roco, J. A., He, Y., Qin, Y., Cappello, J., Ellyard, J. I., Bassett, K., Shen, Q., Burgio, G., Zhang, Y., Turnbull, C., Meng, X., Wu, P., Cho, E., Miosge, L. A. ,. Vinuesa, C. G. (2022). TLR7 gain-of-function genetic variation causes human lupus. NATURE, 605 (7909), pp.349-+. https://doi.org/10.1038/s41586-022-04642-zTest.; http://hdl.handle.net/11343/315974Test

الإتاحة: https://doi.org/10.1038/s41586-022-04642-zTest
http://hdl.handle.net/11343/315974Test

المؤلفون: Jiang, SH, Mercan, S, Papa, I, Moldovan, M, Walters, GD, Koina, M, Fadia, M, Stanley, M, Lea-Henry, T, Cook, A, Ellyard, J, McMorran, B, Sundaram, M, Thomson, R, Canete, PF, Hoy, W, Hutton, H, Srivastava, M, McKeon, K, de la Rua Figueroa, I, Cervera, R, Faria, R, D'Alfonso, S, Gatto, M, Athanasopoulos, V, Field, M, Mathews, J, Cho, E, Andrews, TD, Kitching, AR, Cook, MC, Alarcon Riquelme, M, Bahlo, M, Vinuesa, CG

العلاقة: pii: S2666-3791(21)00347-5; Jiang, S. H., Mercan, S., Papa, I., Moldovan, M., Walters, G. D., Koina, M., Fadia, M., Stanley, M., Lea-Henry, T., Cook, A., Ellyard, J., McMorran, B., Sundaram, M., Thomson, R., Canete, P. F., Hoy, W., Hutton, H., Srivastava, M., McKeon, K. ,. Vinuesa, C. G. (2021). Deletions in VANGL1 are a risk factor for antibody-mediated kidney disease. CELL REPORTS MEDICINE, 2 (12), https://doi.org/10.1016/j.xcrm.2021.100475Test.; http://hdl.handle.net/11343/305463Test

الإتاحة: https://doi.org/10.1016/j.xcrm.2021.100475Test
http://hdl.handle.net/11343/305463Test

المؤلفون: Sutton, HJ, Aye, R, Idris, AH, Vistein, R, Nduati, E, Kai, O, Mwacharo, J, Li, X, Gao, X, Andrews, TD, Koutsakos, M, Nguyen, THO, Nekrasov, M, Milburn, P, Eltahla, A, Berry, AA, Natasha, KC, Chakravarty, S, Sim, BKL, Wheatley, AK, Kent, SJ, Hoffman, SL, Lyke, KE, Bejon, P, Luciani, F, Kedzierska, K, Seder, RA, Ndungu, FM, Cockburn, IA

العلاقة: pii: S2211-1247(20)31673-9; Sutton, H. J., Aye, R., Idris, A. H., Vistein, R., Nduati, E., Kai, O., Mwacharo, J., Li, X., Gao, X., Andrews, T. D., Koutsakos, M., Nguyen, T. H. O., Nekrasov, M., Milburn, P., Eltahla, A., Berry, A. A., Natasha, K. C., Chakravarty, S., Sim, B. K. L. ,. Cockburn, I. A. (2021). Atypical B cells are part of an alternative lineage of B cells that participates in responses to vaccination and infection in humans. CELL REPORTS, 34 (6), https://doi.org/10.1016/j.celrep.2020.108684Test.; http://hdl.handle.net/11343/273771Test

الإتاحة: https://doi.org/10.1016/j.celrep.2020.108684Test
http://hdl.handle.net/11343/273771Test

المؤلفون: Jiang, SH, Athanasopoulos, V, Ellyard, J, Chuah, A, Cappello, J, Cook, A, Prabhu, SB, Cardenas, J, Gu, J, Stanley, M, Roco, JA, Papa, I, Yabas, M, Walters, GD, Burgio, G, McKeon, K, Byers, JM, Burrin, C, Enders, A, Miosge, LA, Canete, PF, Jelusic, M, Tasic, V, Lungu, AC, Alexander, S, Kitching, AR, Fulcher, DA, Shen, N, Arsov, T, Gatenby, PA, Babon, JJ, Mallon, DF, Collantes, CDL, Stone, EA, Wu, P, Field, MA, Andrews, TD, Cho, E, Pascual, V, Cook, MC, Vinuesa, CG

العلاقة: pii: 10.1038/s41467-019-10242-9; Jiang, S. H., Athanasopoulos, V., Ellyard, J., Chuah, A., Cappello, J., Cook, A., Prabhu, S. B., Cardenas, J., Gu, J., Stanley, M., Roco, J. A., Papa, I., Yabas, M., Walters, G. D., Burgio, G., McKeon, K., Byers, J. M., Burrin, C., Enders, A. ,. Vinuesa, C. G. (2019). Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus. NATURE COMMUNICATIONS, 10 (1), https://doi.org/10.1038/s41467-019-10242-9Test.; http://hdl.handle.net/11343/245753Test

الإتاحة: https://doi.org/10.1038/s41467-019-10242-9Test
http://hdl.handle.net/11343/245753Test

المؤلفون: Wu, Z, Liang, R, Ohnesorg, T, Cho, V, Lam, W, Abhayaratna, WP, Gatenby, PA, Perera, C, Zhang, Y, Whittle, B, Sinclair, A, Goodnow, CC, Field, M, Andrews, TD, Cook, MC

المساهمون: Sirugo, Giorgio

المصدر: urn:ISSN:1553-7390 ; urn:ISSN:1553-7404 ; PLoS Genetics, 12, 5, e1006067

مصطلحات موضوعية: Human Genome, Genetics, 2 Aetiology, 2.1 Biological and endogenous factors, Antibodies, Antineutrophil Cytoplasmic, Blood Transfusion, Autologous, GPI-Linked Proteins, Gene Expression Regulation, Genetic Heterogeneity, Humans, Isoantigens, Neutropenia, Neutrophils, Polymorphism, Single Nucleotide, Pseudogenes, Receptors, Cell Surface, Thrombocytopenia, Neonatal Alloimmune, anzsrc-for: 0604 Genetics

العلاقة: http://hdl.handle.net/1959.4/unsworks_53455Test; https://doi.org/10.1371/journal.pgen.1006067Test

الإتاحة: https://doi.org/10.1371/journal.pgen.1006067Test
http://hdl.handle.net/1959.4/unsworks_53455Test

المؤلفون: Field, MA, Cho, V, Cook, MC, Enders, A, Vinuesa, CG, Whittle, B, Andrews, TD, Goodnow, CC

المصدر: urn:ISSN:1367-4803 ; urn:ISSN:1460-2059 ; Bioinformatics, 31, 14, 2377-2379

مصطلحات موضوعية: Human Genome, Genetics, Generic health relevance, Female, Genetic Linkage, Genetic Markers, Genetic Predisposition to Disease, Genetic Variation, Heterozygote, High-Throughput Nucleotide Sequencing, Humans, INDEL Mutation, Male, Pedigree, Polymorphism, Single Nucleotide, Software, anzsrc-for: 01 Mathematical Sciences, anzsrc-for: 06 Biological Sciences, anzsrc-for: 08 Information and Computing Sciences

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/1959.4/unsworks_58956Test; https://unsworks.unsw.edu.au/bitstreams/9a146f46-123d-4445-a0dd-c63a90a66131/downloadTest; https://doi.org/10.1093/bioinformatics/btv135Test

الإتاحة: https://doi.org/10.1093/bioinformatics/btv135Test
http://hdl.handle.net/1959.4/unsworks_58956Test
https://unsworks.unsw.edu.au/bitstreams/9a146f46-123d-4445-a0dd-c63a90a66131/downloadTest

المؤلفون: Craddock, N, Hurles, ME, Cardin, N, Pearson, RD, Plagnol, V, Robson, S, Vukcevic, D, Barnes, C, Conrad, DF, Giannoulatou, E, Holmes, C, Marchini, JL, Stirrups, K, Tobin, MD, Wain, LV, Yau, C, AERTS, Jan, Ahmad, T, Andrews, TD, Arbury, H, Attwood, A, Auton, A, Ball, SG, Balmforth, AJ, Barrett, JC, Barroso, I, Barton, A, Bennett, AJ, Bhaskar, S, Blaszczyk, K, Bowes, J, Brand, OJ, Braund, PS, Bredin, F, Breen, G, Brown, MJ, Bruce, IN, Bull, J, Burren, OS, Burton, J, Byrnes, J, Caesar, S, Clee, CM, Coffey, AJ, Connell, JMC, Cooper, JD, Dominiczak, AF, Downes, K, Drummond, HE, Dudakia, D, Dunham, A, Ebbs, B, Eccles, D, Edkins, S, Edwards, C, Elliot, A, Emery, P, Evans, DM, Evans, G, Eyre, S, Farmer, A, Ferrier, IN, Feuk, L, Fitzgerald, T, Flynn, E, Forbes, A, Forty, L, Franklyn, JA, Freathy, RM, Gibbs, P, Gilbert, P, Gokumen, O, Gordon-Smith, K, Gray, E, Green, E, Groves, CJ, Grozeva, D, Gwilliam, R, Hall, A, Hammond, N, Hardy, M, Harrison, P, Hassanali, N, Hebaishi, H, Hines, S, Hinks, A, Hitman, GA, Hocking, L, Howard, E, Howard, P, Howson, JMM, Hughes, D, Hunt, S, Isaacs, JD, Jain, M, Jewell, DP, Johnson, T, Jolley, JD, Jones, IR, Jones, LA, Kirov, G, Langford, CF, Lango-Allen, H, Lathrop, GM, Lee, J, Lee, KL, Lees, C, Lewis, K, Lindgren, CM, Maisuria-Armer, M, Maller, J, Mansfield, J, Martin, P, Massey, DCO, McArdle, WL, McGuffin, P, McLay, KE, Mentzer, A, Mimmack, ML, Morgan, AE, Morris, AP, Mowat, C, Myers, S, Newman, W, Nimmo, ER, O'Donovan, MC, Onipinla, A, Onyiah, I, Ovington, NR, Owen, MJ, Palin, K, Parnell, K, Pernet, D, Perry, JRB, Phillips, A, Pinto, D, Prescott, NJ, Prokopenko, I, Quail, MA, Rafelt, S, Rayner, NW, Redon, R, Reid, DM, Renwick, A, Ring, SM, Robertson, N, Russell, E, St Clair, D, Sambrook, JG, Sanderson, JD, Schuilenburg, H, Scott, CE, Scott, R, Seal, S, Shaw-Hawkins, S, Shields, BM, Simmonds, MJ, Smyth, DJ, Somaskantharajah, E, Spanova, K, Steer, S, Stephens, J, Stevens, HE, Stone, MA, Su, Z, Symmons, DPM, Thompson, JR, Thomson, W, Travers, ME, Turnbull, C, Valsesia, A, Walker, M, Walker, NM, Wallace, C, Warren-Perry, M, Watkins, NA, Webster, J, Weedon, MN, Wilson, AG, Woodburn, M, Wordsworth, BP, Young, AH, Zeggini, E, Carter, NP, Frayling, TM, Lee, C, McVean, G, Munroe, PB, Palotie, A, Sawcer, SJ, Scherer, SW, Strachan, DP, Tyler-Smith, C, Brown, MA, Burton, PR, Caulfield, MJ, Compston, A, Farrall, M, Gough, SCL, Hall, AS, Hattersley, AT, Hill, AVS, Mathew, CG, Pembrey, M, Satsangi, J, Stratton, MR, Worthington, J, Deloukas, P, Duncanson, A, Kwiatkowski, DP, McCarthy, MI, Ouwehand, WH, Parkes, M, Rahman, N, Todd, JA, Samani, NJ, Donnelly, P

العلاقة: NATURE, 464 (7289) , p. 713 -U86; http://hdl.handle.net/1942/33860Test; U86; 7289; 713; 464; WOS:000276205000036

الإتاحة: https://doi.org/10.1038/nature08979Test
http://hdl.handle.net/1942/33860Test

المؤلفون: Alic, N, Giannakou, ME, Papatheodorou, I, Hoddinott, MP, Andrews, TD, Bolukbasi, E, Partridge, L

المصدر: PLoS Genet , 10 (9) , Article e1004619. (2014)

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1449012/1/journal.pgen.1004619.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1449012Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1449012/1/journal.pgen.1004619.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1449012Test/

المؤلفون: Howson, LJ, Awad, W, von Borstel, A, Lim, HJ, McWilliam, HEG, Sandoval-Romero, ML, Majumdar, S, Hamzeh, AR, Andrews, TD, McDermott, DH, Murphy, PM, Le Nours, J, Mak, JYW, Liu, L, Fairlie, DP, McCluskey, J, Villadangos, JA, Cook, MC, Turner, SJ, Davey, MS, Ojaimi, S, Rossjohn, J

العلاقة: NHMRC/1016629; NHMRC/1013667; NHMRC/1117766; NHMRC/1154502; pii: 5/49/eabc9492; Howson, L. J., Awad, W., von Borstel, A., Lim, H. J., McWilliam, H. E. G., Sandoval-Romero, M. L., Majumdar, S., Hamzeh, A. R., Andrews, T. D., McDermott, D. H., Murphy, P. M., Le Nours, J., Mak, J. Y. W., Liu, L., Fairlie, D. P., McCluskey, J., Villadangos, J. A., Cook, M. C., Turner, S. J. ,. Rossjohn, J. (2020). Absence of mucosal-associated invariant T cells in a person with a homozygous point mutation in MR1. Science Immunology, 5 (49), https://doi.org/10.1126/sciimmunol.abc9492Test.; http://hdl.handle.net/11343/267505Test

الإتاحة: https://doi.org/10.1126/sciimmunol.abc9492Test
http://hdl.handle.net/11343/267505Test

المؤلفون: Bergmann, H, Yabas, M, Short, A, Miosge, L, Barthel, N, Teh, CE, Roots, CM, Bull, KR, Jeelall, Y, Horikawa, K, Whittle, B, Balakishnan, B, Sjollema, G, Bertram, EM, Mackay, F, Rimmer, AJ, Cornall, RJ, Field, MA, Andrews, TD, Goodnow, CC, Enders, A

العلاقة: pii: jem.20121076; Bergmann, H., Yabas, M., Short, A., Miosge, L., Barthel, N., Teh, C. E., Roots, C. M., Bull, K. R., Jeelall, Y., Horikawa, K., Whittle, B., Balakishnan, B., Sjollema, G., Bertram, E. M., Mackay, F., Rimmer, A. J., Cornall, R. J., Field, M. A., Andrews, T. D. ,. Enders, A. (2013). B cell survival, surface BCR and BAFFR expression, CD74 metabolism, and CD8(-) dendritic cells require the intramembrane endopeptidase SPPL2A. JOURNAL OF EXPERIMENTAL MEDICINE, 210 (1), pp.31-40. https://doi.org/10.1084/jem.20121076Test.; http://hdl.handle.net/11343/263135Test

الإتاحة: https://doi.org/10.1084/jem.20121076Test
http://hdl.handle.net/11343/263135Test