المؤلفون: Kamsteeg EJ; Department of Cell Physiology, University of Nijmegen, 6500HB Nijmegen, The Netherlands., Wormhoudt TA, Rijss JP, van Os CH, Deen PM

المصدر: The EMBO journal [EMBO J] 1999 May 04; Vol. 18 (9), pp. 2394-400.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 8208664 Publication Model: Print Cited Medium: Print ISSN: 0261-4189 (Print) Linking ISSN: 02614189 NLM ISO Abbreviation: EMBO J Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Aquaporins/*genetics , Diabetes Insipidus, Nephrogenic/*genetics, Animals ; Aquaporin 2 ; Aquaporin 6 ; Aquaporins/antagonists & inhibitors ; Aquaporins/metabolism ; Diabetes Insipidus, Nephrogenic/metabolism ; Humans ; Models, Biological ; Oocytes ; Protein Conformation ; Recombinant Proteins/metabolism ; Water/metabolism ; Xenopus laevis

المؤلفون: van Os CH; Department of Cell Physiology, University of Nijmegen, The Netherlands., Deen PM

المصدر: Proceedings of the Association of American Physicians [Proc Assoc Am Physicians] 1998 Sep-Oct; Vol. 110 (5), pp. 395-400.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Blackwell Science, Inc Country of Publication: United States NLM ID: 9514310 Publication Model: Print Cited Medium: Print ISSN: 1081-650X (Print) Linking ISSN: 1081650X NLM ISO Abbreviation: Proc Assoc Am Physicians Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Aquaporins/*genetics , Diabetes Insipidus, Nephrogenic/*genetics, Animals ; Aquaporin 2 ; Aquaporin 6 ; Aquaporins/chemistry ; Genes, Dominant ; Genes, Recessive ; Humans ; Kidney Tubules, Collecting/physiology

المؤلفون: Knoers NV; Department of Human Genetics, University Hospital, Nijmegen, The Netherlands., van Os CH

المصدر: Current opinion in nephrology and hypertension [Curr Opin Nephrol Hypertens] 1996 Jul; Vol. 5 (4), pp. 353-8.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Review

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9303753 Publication Model: Print Cited Medium: Print ISSN: 1062-4821 (Print) Linking ISSN: 10624821 NLM ISO Abbreviation: Curr Opin Nephrol Hypertens Subsets: MEDLINE

مواضيع طبية MeSH: Aquaporins* , Mutation*, Diabetes Insipidus, Nephrogenic/*genetics , Diabetes Insipidus, Nephrogenic/*physiopathology , Ion Channels/*genetics , Receptors, Vasopressin/*genetics, Amino Acid Sequence ; Animals ; Aquaporin 2 ; Aquaporin 6 ; Female ; Genes, Recessive ; Genetic Carrier Screening ; Genetic Counseling ; Humans ; Ion Channels/chemistry ; Ion Channels/physiology ; Male ; Molecular Sequence Data ; Protein Structure, Secondary ; Receptors, Vasopressin/chemistry ; Receptors, Vasopressin/physiology ; X Chromosome

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H., Qh, Kalimuthu, S. -B., Qn, Lungu, Qh, I., Luo, Qo, Mbabaali, X. k., If, F., T. A., Qk, J. K., If, Moore, M. J., Ql, Notta, Qh, F., Pasternack, Qp, If, D., Petersen, G. M., Qq, Roehrl, M. H. A. q., Qh, Qr, Qs, Qt, Sam, If, M., Selander, Qk, I., Serra, Os, S., Shahabi, Qn, S., Thayer, S. P., Qm, Timms, L. E., If, Wilson, G. W. k., Wilson, Qh, J. M., Qh, Wouters, B. G., Qu, J. D., If, Qh, Qv, Beck, T. A. n., Bhandari, Qw, Collins, V. k., C. C., Eo, Fleshner, N. E., Qx, Fox, N. S. k., Fraser, M. k., Heisler, L. E., Qy, Lalonde, E. k., Livingstone, J. k., Meng, Qz, A., Sabelnykova, V. Y. k., Shiah, Y. -J. k., Van der Kwast, Ra, T., Bristow, R. G. q., Rb, Rc, Rd, Re, Ding, Rf, S., Rg, D., Fv, L., Nie, Rg, Y., Xiao, Rh, Xing, Hm, R., Yang, Ri, Rj, Y., Banks, R. E., Rk, Bourque, Rl, G., Brennan, Rm, Rn, P., Letourneau, Ro, L., Riazalhosseini, Rm, Y., Scelo, Rn, G., Vasudev, Rk, N., Viksna, Rp, Rq, J., Lathrop, Rm, M., Tost, Rr, J., Ahn, S. -M., Rs, Aparicio, Rt, S., Arnould, Ru, L., Aure, M. R., Rv, Bhosle, Abp, S. G., Birney, E. f., Borg, Rw, A., Boyault, Rx, S., Brinkman, A. B., Ry, Brock, J. E., Rz, Broeks, Sa, A., Børresen-Dale, A. -L., Rv, Caldas, Sb, C., Chin, Sc, S. -F., Sb, Davies, Sc, Mu, H., Abp, Mv, Desmedt, Sd, C., Dirix, Se, Sf, L., Dronov, Ehinger, Sg, A., Eyfjord, J. E., Sh, Fatima, Gt, A., Foekens, J. A., Si, Futreal, P. A., Sj, Garred, Sk, Ø., Giri, Sl, D. D., Sm, Glodzik, Abp, D., Grabau, Sn, D., Hilmarsdottir, Sh, H., Hooijer, G. K., So, Jacquemier, Sp, J., S. J., Sq, Jonasson, J. G., Sh, Jonkers, Sr, J., H. -Y., Sp, King, T. A., Ss, Knappskog, St, Su, S., Abp, Kong, Sp, G., Krishnamurthy, Sv, S., Lakhani, S. R., Sw, Langerød, Rv, A., Larsimont, Sx, D., H. J., Sq, J. -Y., Sy, M. T. M., Sj, Lingjærde, O. C., Sz, Macgrogan, Ta, G., Martens, J. W. M., Si, O’Meara, Pauporté, He, I., Pinder, Tb, S., Pivot, Tc, X., Provenzano, Td, E., Purdie, C. A., Te, Ramakrishna, Abp, M., Ramakrishnan, Abp, K., Reis-Filho, Sm, J., Richardson, A. L., Gt, Ringnér, Rw, M., Rodriguez, J. B., Am, Rodríguez-González, F. G., Iz, Romieu, Tf, G., Salgado, Os, R., Sauer, Sz, T., Shepherd, Abp, R., Sieuwerts, A. M., Si, Simpson, P. T., Sw, Smid, Si, M., Sotiriou, Span, P. N., Tg, Stefánsson, Ó. A., Th, Stenhouse, Ti, A., Stunnenberg, H. G., Fw, Sweep, Tj, Tk, F., Tan, B. K. T., Tl, Thomas, Tm, G., Thompson, A. M., Ti, Tommasi, Tn, S., Treilleux, To, I., Tutt, Tp, Ueno, N. T., Nv, Van, Laere, Sf, S., Van den Eynden, G. G., Sf, Vermeulen, Sf, P., Viari, Vincent-Salomon, Tj, A., Wong, B. H., Tq, Yates, Abp, X., Van, Deurzen, C. H. M., Tr, van de Vijver, M. J., Os, Van’T, Veer, Ts, L., Ammerpohl, Tt, O., Tu, Tv, Aukema, Tu, S., Tv, Tw, Bergmann, A. K., Tx, Bernhart, S. H., Kx, Ky, Lb, Borkhardt, Ty, A., Borst, Tz, C., Burkhardt, Ua, B., Claviez, Ub, A., Goebler, M. E., Uc, Haake, Tt, A., Haas, Tz, S., Hansmann, Ud, M., Hoell, J. I., Ty, Hummel, Ue, M., Karsch, Uf, D., Klapper, Tw, W., Kneba, Uf, M., Kreuz, Ug, M., Kube, Uh, D., Küppers, Ui, R., Lenze, Ue, D., Loeffler, López, Ca, C., Mantovani-Löffler, Tt, Uj, L., Möller, Uk, P., Ott, Ul, G., Radlwimmer, Oh, B., Richter, Tt, J., Rohde, Tw, Um, M., Rosenstiel, P. C., Un, Rosenwald, Uo, A., Schilhabel, M. B., Un, Schreiber, Up, S., Stadler, P. F., Kx, Staib, Uq, P., Stilgenbauer, Ur, S., Sungalee, S. g., Szczepanowski, Tw, M., Toprak, U. H., Ac, Trümper, Us, L. H. P., Uh, Wagener, Ca, R., Zenz, Tt, Er, T., Hovestadt, Oh, V., Von, Kalle, Do, C., Kool, Korshunov, Lr, Ik, A., Landgraf, Ut, P., Lehrach, Uu, Uv, H., Northcott, P. A., Uw, Pfister, S. M., Ik, Lr, Ux, Reifenberger, Uu, G., Warnatz, H. -J., Uv, Wolf, Uy, S., Yaspo, M. -L., Uv, Assenov, Uz, Y., Gerhauser, Minner, Va, S., Schlomm, Ct, T., Simon, Vb, Vc, R., Sauter, Vc, G., Sültmann, Er, H., Biswas, Vd, N. K., Ve, Maitra, Ve, A., Majumder, P. P., Ve, Sarin, Vf, R., Barbi, Pe, S., Bonizzato, Pa, G., Cantù, Dei, Tos, A. 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S., Oe, Cahill, Xo, D., Camacho, Oe, N., Dennis, N. M., Xo, Dudderidge, Xo, T., Edwards, Xp, S. E., Oe, Fisher, Xo, C., Foster, C. S., Xq, Ghori, Xr, Gill, Ws, P., Gnanapragasam, V. J., Nn, Gundem, Xs, Jq, G., Hamdy, F. C., Xt, Hawkins, Hazell, Xo, S., Howat, Nn, W., Isaacs, W. B., Xu, Karaszi, Ws, K., Kay, J. D., Ge, Xo, V., Kote-Jarai, Oe, Z., Kremeyer, Abp, B., Xo, P., Lambert, Ws, A., Leongamornlert, D. A., Oe, Abp, Livni, Xo, N., Y. -J., Xn, Luxton, Xv, H. J., Ge, Marsden, Ws, L., Massie, C. E., Lo, Matthews, Oe, L., Mayer, Xo, E., Mcdermott, Xw, Abp, U., Merson, Oe, S., Neal, D. E., Lo, Nn, Ng, Xx, A., Nicol, Ogden, Rowe, E. W., Xo, Shah, N. C., Nn, Xo, A., Verrill, Ws, C., Visakorpi, Xy, Du, T., Warren, A. Y., Nn, Whitaker, Xz, H. C., Ge, Xv, H., Van, As, Eeles, R. A., Oe, Abeshouse, Xo, Jq, A., Agrawal, Fe, N., Akbani, Mv, R., Al-Ahmadie, Ya, Jq, H., Albert, Qg, M., Aldape, Oi, K., Ally, Yb, Yc, A., Appelbaum, E. L. z., Armenia, Ge, Yd, J., Asa, Xe, S., Auman, Ye, J. T., Yf, Balasundaram, Yc, M., Balu, S. w., Barnholtz-Sloan, Yg, J., Bathe, Yh, O. F., Yi, Baylin, Yj, S. B., Dr, Benz, Xp, Yk, C., Berchuck, Yl, A., Berrios, Ym, M., Bigner, Yn, D., Birrer, M. r., Bodenheimer, T. w., Boice, Xg, L., Bootwalla, M. S., Ym, Bosenberg, Yo, M., Bowlby, Yc, R., Boyd, Yp, J., Broaddus, R. R., Oi, Yq, M., Brooks, Yc, D., Bullman, S. b., Caesar-Johnson, Fj, S. J., Hv, Carey, T. E., Yr, Carlsen, Cerfolio, Ys, R., Chandan, V. S., Yt, H. -W., Wt, Cherniack, Yd, A. D. b., Ey, Chien, Fj, Yu, J., Cho, J. b., Chuah, Yc, E., Cibulskis, C. b., Cope, Yv, L., Cordes, M. G. z., Curley, Xh, Yw, E., Czerniak, Oi, B., Danilova, Xb, Davis, I. J., Yx, Defreitas, T. b., Demchok, J. A., Hv, Dhalla, Yc, N., Dhir, Yy, R., Doddapaneni, H. V., Ag, El-Naggar, Oi, A., Felau, Xb, Hv, I., Ferguson, M. L., Yz, Finocchiaro, Za, G., Fong, K. M., Zb, Frazer, S. b., Friedman, Zc, W., Fronick, C. C. z., Fulton, Xh, Gabriel, L. A. z., Gao, S. B. b., Gehlenborg, N. b., Gershenwald, Zd, J. E., Ze, Ghossein, Zf, Sm, R., Giama, N. H., Zg, Gibbs, R. A., Ag, Gomez, Zh, C., Govindan, R. y., Hayes, D. N. w., Zi, Zj, Hegde, A. M., Ee, Heiman, Ef, Heins, D. I. b., Jq, Z., Hepperla, A. J. w., Holbrook, Ym, A., Holt, R. A., Yc, Hoyle, A. P. w., Hruban, R. H., Yv, Ag, J., Xg, M., Huntsman, Zk, D., Huse, Jq, J., Iacobuzio-Donahue, C. A., Sm, Ittmann, Zl, M., Jayaseelan, Zm, J. C., Ag, Jefferys, S. R. w., C. D., Zn, S. J. M., Zo, Juhl, Zp, H., Kang, K. J., Zq, Karlan, Zr, B., Kasaian, Zo, K., Kebebew, Zs, E., Kim, Zt, H. K., Zu, Korchina, Ag, V., Kundra, Wt, R., Lai, Yd, P. H., Ym, Lander, E. b., Zv, X., Levine, D. A., Jq, Lewis, Zw, Ag, L., Ley, Zx, T., H. I., Yc, Lin, P. b., Linehan, W. M., Zy, F. F., No, Ef, Y., Lype, Zz, L., Yc, Y., Maglinte, D. T., Ym, Aaa, Mardis, E. R. z., Yp, Aab, Marks, Ow, J., Aac, Marra, M. A., Yc, Matthew, T. J., Aj, Mayo, Mccune, Aad, K., Meier, S. R. b., Meng, S. w., Mieczkowski, P. A. v., Mikkelsen, Aae, T., Miller, C. A. z., Mills, Aaf, G. B., Morrison, Aag, Mose, Moser, L. E. w., C. D., Zg, Mungall, A. J., Yc, Yc, K., Mutch, Aah, D., Muzny, Aai, D. M., Myers, Aaj, J., Newton, Aj, Y., Noble, M. S. b., O’Donnell, Aak, P., Aal, B. P., Ochoa, Aam, J. -W., Parker, Aan, J. S., Pass, Aao, H., Pastore, Pennell, Aap, N. A., Perou, Aaq, C. M., Petrelli, Aar, N., Potapova, Aas, O., Rader, Aat, J. S., Ramalingam, Aau, S., Rathmell, Aav, W. K., Reuter, Sm, V., Reynolds, S. M., Zz, Ringel, Aaw, M., Roach, Aax, J., L. R., Zg, A. G., Yc, Sadeghi, Yc, S., Saller, Aay, C., Sanchez-Vega, Wt, F., Schadendorf, Yd, Eq, D., Aaz, Schein, J. E., Yc, Schmidt, H. K. z., Schultz, Yd, N., Seethala, Aba, R., Senbabaoglu, Dg, Y., Shelton, Yw, T., Shi, Y. w., Shih, J. b., Shmulevich, Fj, Zz, I., Shriver, Abb, C., Signoretti, Fj, S., Abc, Jb, Simons, J. V. w., Singer, Abd, Sipahimalani, Yc, P., Skelly, T. J. v., Smith-McCune, Socci, N. D., Dg, Soloway, Aan, M. G., Sood, Abe, A. K., Tam, Tan, D. v., Tarnuzzer, Hv, R., Thiessen, Abf, R. H., L. B., Xg, Tsao, Xe, M., Umbricht, Ye, Lk, C., Abg, Wv, Van Den Berg, D. J., Ym, Van, Meir, Abh, E. G., Veluvolu, U. v., Voet, D. b., Weinberger, Abi, P., Weisenberger, Wigle, Abj, D., Wilkerson, M. D. v., Wilson, R. K. z., Abk, Winterhoff, Abl, B., Wiznerowicz, Abm, M., Abn, Wong, T. z., Yc, Abo, W., Yau, Zhang, H. b., Yd, H., Hv, J., The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium View Correspondence (jump link)

المساهمون: Medical Oncology, Pathology, IBM, Pharmacyclics, Novartis, Celgene, AstraZeneca, Bayer, Janssen Biotech, University of Chicago, Ipsen, Pfizer, Ono Pharmaceutical, Ariad Pharmaceuticals, Gilead Sciences, Bristol-Myers Squibb, University of St Andrews. School of Medicine, University of St Andrews. Statistics, University of St Andrews. Sir James Mackenzie Institute for Early Diagnosis, University of St Andrews. Cellular Medicine Division, RS: CAPHRI - R4 - Health Inequities and Societal Participation, Metamedica, Háskóli Íslands, University of Iceland, Faculty of Medicine, University of Helsinki, Department of Medical and Clinical Genetics, Research Programs Unit, Lauri Antti Aaltonen / Principal Investigator, ATG - Applied Tumor Genomics, Helsinki Institute of Life Science HiLIFE, Organismal and Evolutionary Biology Research Programme, Helsinki Institute for Information Technology, Institute of Biotechnology, Bioinformatics, Department of Computer Science, STEMM - Stem Cells and Metabolism Research Program, Centre of Excellence in Stem Cell Metabolism, Genome-Scale Biology (GSB) Research Program, Department of Physics, HUS Helsinki and Uusimaa Hospital District, University of Zurich, ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium, Apollo - University of Cambridge Repository, Graduate School, Laboratory Genetic Metabolic Diseases, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, CCA - Cancer biology and immunology, Campbell, P, Getz, G, Korbel, J, Stuart, J, Jennings, J, Stein, L, Perry, M, Nahal-Bose, H, Ouellette, B, Li, C, Rheinbay, E, Nielsen, G, Sgroi, D, Wu, C, Faquin, W, Deshpande, V, Boutros, P, Lazar, A, Hoadley, K, Louis, D, Dursi, L, Yung, C, Bailey, M, Saksena, G, Raine, K, Buchhalter, I, Kleinheinz, K, Schlesner, M, Zhang, J, Wang, W, Wheeler, D, Ding, L, Simpson, J, O'Connor, B, Yakneen, S, Ellrott, K, Miyoshi, N, Butler, A, Royo, R, Shorser, S, Vazquez, M, Rausch, T, Tiao, G, Waszak, S, Rodriguez-Martin, B, Shringarpure, S, Wu, D, Demidov, G, Delaneau, O, Hayashi, S, Imoto, S, Habermann, N, Segre, A, Garrison, E, Cafferkey, A, Alvarez, E, Heredia-Genestar, J, Muyas, F, Drechsel, O, Bruzos, A, Temes, J, Zamora, J, Baez-Ortega, A, Kim, H, Mashl, R, Ye, K, Dibiase, A, Huang, K, Letunic, I, Mclellan, M, Newhouse, S, Shmaya, T, Kumar, S, Wedge, D, Wright, M, Yellapantula, V, Gerstein, M, Khurana, E, Marques-Bonet, 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Beardsmore, D, Eldridge, M, Gossage, J, Grehan, N, Hanna, G, Hayes, S, Hupp, T, Khoo, D, Lagergren, J, Lovat, L, Macrae, S, O'Donovan, M, O'Neill, J, Parsons, S, Preston, S, Puig, S, Roques, T, Sanders, G, Sothi, S, Tavare, S, Tucker, O, Turkington, R, Underwood, T, Welch, I, Fitzgerald, R, Berney, D, De Bono, J, Cahill, D, Camacho, N, Dennis, N, Dudderidge, T, Edwards, S, Fisher, C, Foster, C, Ghori, M, Gill, P, Gnanapragasam, V, Gundem, G, Hamdy, F, Hawkins, S, Hazell, S, Howat, W, Isaacs, W, Karaszi, K, Kay, J, Khoo, V, Kote-Jarai, Z, Kremeyer, B, Kumar, P, Lambert, A, Leongamornlert, D, Livni, N, Luxton, H, Marsden, L, Massie, C, Matthews, L, Mayer, E, Mcdermott, U, Merson, S, Neal, D, Nicol, D, Ogden, C, Rowe, E, Shah, N, Thomas, S, Verrill, C, Visakorpi, T, Warren, A, Whitaker, H, Zhang, H, van As, N, Eeles, R, Abeshouse, A, Agrawal, N, Akbani, R, Al-Ahmadie, H, Albert, M, Aldape, K, Ally, A, Appelbaum, E, Armenia, J, Asa, S, Auman, J, Balasundaram, M, Balu, S, Barnholtz-Sloan, 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Weisenberger, D, Wigle, D, Wilkerson, M, Wilson, R, Winterhoff, B, Wiznerowicz, M, Wong, T, Wong, W, Xi, L, Yau, C, Consortium, ICGC/TCGA Pan-Cancer Analysis of Whole Genomes, Demeulemeester, Jonas, Desmedt, Christine, Van Loo, Peter, Barcelona Supercomputing Center, Imperial College Healthcare NHS Trust- BRC Funding, Cancer Research UK, Basic (bio-) Medical Sciences, Laboratory for Medical and Molecular Oncology

المصدر: Nature, vol 578, iss 7793
Semple, C 2020, ' Pan-cancer analysis of whole genomes ', Nature, vol. 578, no. 7793, pp. 82-93 . https://doi.org/10.1038/s41586-020-1969-6
Nature, 578, 82-93. Nature Publishing Group
The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium, Bristow, R, Hayes, S, Wedge, D & et al. 2020, ' Pan-cancer analysis of whole genomes ', Nature. https://doi.org/10.1038/s41586-020-1969-6
ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium, Weischenfeldt, J L, Sidiropoulos, N, Brunak, S & Rodriguez Gonzalez, F G 2020, ' Pan-cancer analysis of whole genomes ', Nature, vol. 578, no. 7793, pp. 82-93 . https://doi.org/10.1038/s41586-020-1969-6
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ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium, Collaborators (2020). Pan-cancer analysis of whole genomes. Nature, 578(7793), pp. 82-93. Springer Nature 10.1038/s41586-020-1969-6 <http://dx.doi.org/10.1038/s41586-020-1969-6>
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Nature, 578(7793), 82-93. Nature Publishing Group
Nature, 578, 7793, pp. 82-93
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The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium 2020, ' Pan-cancer analysis of whole genomes ', Nature, vol. 578, no. 7793, pp. 82-93 . https://doi.org/10.1038/s41586-020-1969-6
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