Results 131 to 140 of about 3,210,341 (315)

A comprehensive 1000 Genomes-based genome-wide association meta-analysis of coronary artery disease [PDF]

, 2015
Existing knowledge of genetic variants affecting risk of coronary artery disease (CAD) is largely based on genome-wide association study (GWAS) analysis of common SNPs.
Seedorf, Udo, Stirrups, Kathleen E., Kleber, M.E., Mihailov, Evelin,, Zhao, Wei,, Epstein, S.E., Trompet, S., Ridker, P.M., Armasu, S., Assimes, Themistocles L., Ingelsson, E., Granger, Christopher B, Elosua, R., Rose, L., Auro, Kirsi,, Frossard, Philippe,, Boerwinkle, E., Seedorf, Udo,, Hengstenberg, Christian, Palmer, C., Peters, Annette, Stirrups, Kathleen E.,, Ripatti, Samuli,, F. Beutner (7780352), Kleber, Marcus E.,, Rose, LM, Smith, AV, K. S. Zaman (7809092), Harris, Tamara B.,, Webb, Thomas R, Armasu, Sebastian M.,, Nieminen, Markku S.,, R. Elosua (7605998), Palmer, CN, Lu, X., O'Donnell, C., Dedoussis, G., Loos, Ruth J F, Shah, Svati H, Yang, X., Franco, O.H., Chambers, John C, O'Donnell, CJ, Alver, M., Memon, FUR, G. Dedoussis (7626908), Stott, David J.,, Lu, Xiangfeng, Rose, Lynda M, Roberts, Robert, Hofman, A., P. Frossard (7605893), Smith, Albert V, Quertermous, T., V. Salomaa (7605350), Lau, King Wai, Gu, Dongfeng, L. Lind (7625984), Borecki, Ingrid B.,, Franzosi, Maria Grazia, Thompson, J., Granger, CB, Morris, A., Zalloua, Pierre A.,, P. A. Zalloua (7660361), Lu, Yingchang,, T. Kessler (7646111), Stirrups, K.E., Scholz, M, O. Gottesman (7646165), März, Winfried, E. Salfati (7780343), Mallick, N.H., Salomaa, Veikko, Hall, AS, de Vries, Paul S.,, Ingelsson, Erik, Lu, Y., Bertram, Lars, Gauguier, D, Kim, Yun Kyoung,, S. H. Shah (7627475), J. E. Buring (7809098), R. Saxena (7608878), Bjonnes, Andrew,, Karhunen, Pekka J, Hall, A., Granger, C., Assimes, Themistocles L.,, Kessler, Thorsten, Hall, L.M., Lu, Yingchang, Hopewell, Jemma C., Zhang, W., Ardissino, Diego, Reilly, Muredach P., Saxena, R, W. Zhao (696097), Iribarren, Carlos, Bjonnes, Andrew, van Zuydam, Natalie R., Franceschini, N, T. Meitinger (14191), Grace, Christopher, Cupples, L. Adrienne,, Cupples, L.A., C. B. Granger (7780361), Saleheen, Danish,, Chasman, Daniel I., Morris, AP, M. de Andrade (7646150), Zuydam, N.R. van, Franco, Oscar H.,, Kooner, J.S., Schunkert, H, Hazen, Stanley L.,, Magnusson, Patrik K., Thompson, JR, Frossard, P, Ardissino, Diego,, Sinisalo, J., N. J. Samani (7591811), Hopewell, Jemma C.,, de Andrade, Mariza, Uitterlinden, Andre, Hazen, Stanley L., Palmer, Colin N.,, Franco, Oscar H, Nelson, CP, O'Donnell, Catherine, P. K. Magnusson (7609379), Kooner, Jaspal S, Franzosi, MG, Sanghera, Dharambir K.,, Erdmann, Jeanette, Seedorf, U, Loos, Ruth J. F., Pedersen, Nancy L., Demuth, Ilja, Hall, LM, C. Iribarren (7626692), de Vries, P., Gu, D.F., Pedersen, Nancy L, Kessler, Thorsten,, Loos, RJF, Franzosi, M., Sanghera, D.K., Quertermous, Thomas, Kim, Bong-Jo,, Lu, X.F., de Andrade, M, Hall, L., CARDIoGRAMplusC4D Consortium, Nikpay, Majid, Dehghan, Abbas, Ripatti, S., J. S. Kooner (7605356), Smith, Albert V.,, Perola, Markus, Gudnason, Vilmundur,, Erdmann, J, Huang, JB, Nelson, C., Mlindgren, C, Huang, Jie,, Pervjakova, N, Lieb, W, Memon, F-U-R, Wang, Laiyuan, Feitosa, Mary F, S. Kanoni (7626542), Webb, Thomas R.,, Stott, D.J., Hengstenberg, Christian,, Huang, J., Melander, O, Qu, Liming, U. Seedorf (7602437), Magnusson, Patrik K, Gottesman, O., Samuel, M, C. J. O'Donnell (7605308), Lau, King Wai,, Schwartz, Stephen M, Nikpay, Majid,, Trompet, Stella, Jalilzadeh, Shapour,, Gu, D, D. Gu (7809095), Sinisalo, Juha,, J. W. Jukema (7625996), Marz, W, Stott, David, Hwang, Shih-Jen,, D. J. Stott (7645202), Saxena, Richa,, Palmer, CNA, H.-H. Won (7809068), de Vries, PS, Ingelsson, E, Smith, A., Memon, Fazal-ur-Rehman, D. Gauguier (7780358), Lokki, Marja-Liisa,, C. N. Palmer (7611428), S. E. Epstein (7606061), Salfati, E, Shall, A, M. G. Franzosi (7602410), de Andrade, Mariza,, Gottesman, Omri, Schwartz, Stephen M., Sanghera, Dharambir K., Kim, YK, Schwartz, SM, Hwang, S-J, Hwang, Shih-Jen, Bertram, L, C. Willenborg (7605947), Hwang, SJ, Mihailov, Evelin, Scholz, M., M. Haber (7809074), Mallick, Nadeem H.,, Elosua, Roberto, M. S. Nieminen (7605854), Sanghera, DK, Kim, Bong Jo, Feitosa, MF, A. V. Smith (7605131), Koenig, Inke R.,, Morrison, Alanna C, C. Gieger (7609259), Rose, Lynda M.,, Deloukas, P, S. M. Schwartz (7606007), Kim, Y., P. M. Ridker (7605368), Ford, Ian,, Lokki, ML, Trompet, Stella,, Salomaa, V., Andrade, M. de, Jalilzadeh, Shapour, Lieb, W., Hall, Alistair S., CARDIoGRAMplusC4D Consortium (Nikpay, M. ; Goel, A. ; Won, H. ; Hall, L.M. ; Willenborg, C. ; Kanoni, S. ; Saleheen, D. ; Gieger, C. ; Meitinger, T. ; Peters, A. ; Watkins, H. ; Kathiresan, S. ; MacPherson, R.), N. Pervjakova (7647407), Shah, S.H., Salomaa, Veikko,, Farrall, M, Wang, Laiyuan,, Jukema, J. Wouter, D. Ardissino (7605992), Rasheed, Asif, Wang, L, Beutner, F., Deloukas, Panos,, Mallick, NH, Christopher Paul Nelson (7584644), Sanghera, Dharambir K, Cupples, L, P. S. de Vries (7809119), van Zuydam, N., Lyytikainen, L-P, Schwartz, S., Zeng, Lingyao,, Meitinger, T., Lehtimaki, Terho,, Stott, David J., Franco, Oscar H., Han, Bok-Ghee, van Zuydam, NR, Won, H.H., Bottinger, EP, Goel, Anuj,, Smith, A.V., Granger, C.B., Ripatti, S, Lindgren, Cecilia M, Hengstenberg, C, Mihailov, E., W. Lieb (7412738), Pedersen, N., Chasman, DI, CHopewell, Jemma, Bjonnes, A., L. Lannfelt (7652681), Franceschini, N., Epstein, SE, Chasman, D., N. H. Mallick (7809083), Stott, D., A. Peters (6004598), Thompson, J.R., Mallick, N., Bottinger, E., Mehra, Narinder,, Pedersen, N.L., Lyytikäinen, Leo-Pekka, Qu, L., A. Rasheed (7605908), Samani, N.J., Kullo, Iftikhar J, S.-J. Hwang (7760366), Rader, Daniel J., Kathiresan, S, Granger, Christopher B.,, Salfati, Elias, Pedersen, NL, Stewart, Alexandre F., Salfati, E., Han, Bok Ghee, Kleber, Marcus E., Gauguier, D., Epstein, S., Seedorf, U., T. R. Webb (2490886), A. Bjonnes (7780337), Collins, R, MArmasu, Sebastian, S. Ripatti (7606073), K. E. Stirrups (7626839), L. Wang (2327974), Lokki, M., Hwang, S.J., D. K. Sanghera (7780373), Kim, Bong-Jo, W. Zhang (820655), Hwang, S., Huang, Jie, Sanghera, D., L. Qu (822458), Collins, R., Y. K. Kim (7626704), Goodall, A.H., Farrall, M., Han, B-G, Karhunen, Pekka J.,, Lokki, Marja Liisa, Lyytikainen, L.P., Memon, Fazal Uur Rehman, Kullo, Iftikhar J., Willenborg, Christina,, Cupples, L Adrienne, Lau, KW, Samuel, M., A. S. Hall (7605176), Cupples, L. Adrienne, D. Saleheen (7605173), Zeng, L, Morrison, A., Franco, O., Chambers, J.C., M. Nikpay (7646114), J. C. Chambers (7605185), N. R. van Zuydam (7652276), Roberts, R., Kim, Yun Kyoung, Samani, Nilesh J, Rose, L.M., A. F. Stewart (7608944), Melander, O., Franzosi, Maria Grazia,, Morrison, AC, Beutner, F, S. Trompet (7625936), Iribarren, C., M.-L. Lokki (7809080), Hazen, S.L., Palmer, C.N., Anand, Sonia S.,, Maerz, W, Stewart, A., Han, Bok-Ghee,, Ford, I., Lau, K., Gustafsson, Stefan, Loos, R., Auro, Kirsi, Gieger, Christian, CARDIoGRAMplusC4D Consortium (7809113), de Vries, Paul S, Buring, Julie E, König, Inke R., Chopewell, J, Esko, T., Scholz, Markus,, Demuth, I., Lyytikainen, Leo-Pekka,, Buring, Julie E.,, Pervjakova, Natalia, Ridker, Paul M.,, McPherson, Ruth,, Kooner, Jaspal S., Bjonnes, A, Kooner, JS, Schwartz, S.M., Stewart, AF, Stott, DJ, Nelson, C.P., Watkins, Hugh, Morrison, A.C., Grace, C, Stirrups, Kathleen, Dehghan, Abbas,, Palmer, Colin N.; id_orcid, Mehra, N., Frossard, P., Lannfelt, L, Rallidis, L., C. Grace (7809116), Saleheen, Danish, Schunkert, Heribert, Lindgren, CM, Ardissino, D, Lieb, Wolfgang, Kim, Y.K., Hall, Alistair S, Loos, R.J.F., Franzosi, M.G., Granger, Christopher B., Kathiresan, Sekar, Demuth, I, Perola, M., Haber, Marc,, Chasman, Daniel I.,, Lindgren, C., Marmasu, S, J. Erdmann (7603664), Thiery, J, O'Donnell, Christopher J.,, T. Quertermous (7626788), A. H. Goodall (7591808), Morris, A.P., Chasman, D.I., Borecki, I.B., X. Lu (2257870), Hwang, Shih Jen, K. W. Lau (7780340), Kooner, Jaspal S.,, A. P. Morris (7611419), A. C. Morrison (7625951), Lyytikainen, LP, Ripatti, Samuli, Armasu, SM, Hopewell, J.C., Danesh, John,, McPherson, R., Feitosa, M., Ridker, Paul M., Huang, Jianfeng,, Bertram, L., Jukema, J. Wouter,, Borecki, I., Samani, NJ, Meitinger, Thomas,, Danesh, J, I. J. Kullo (7646153), L.-P. Lyytikäinen (7725581), Harris, Tamara B, Zhao, W, Kathiresan, S., R. Roberts (2820928), T. Kyriakou (7774304), Zaman, Khan S, Nikpay, M., de Vries, Paul S., Pervjakova, N., Zalloua, Pierre A., Willenborg, C., Chen, Si, Rallidis, Loukianos S.,, Esko, Tonu, König, Inke R, Borecki, IB, Kathiresan, Sekar,, Gauguier, Dominique, Lehtimäki, T., Samani, N., Goel, A, Melander, Olle,, Borecki, Ingrid B., Franco Duran, OH, Qu, L, Morris, Andrew P.,, Farrall, Martin,, Rallidis, LS, M. P. Reilly (7605332), Ford, I, Goodall, AH, P. J. Karhunen (7780370), Thompson, John R.,, Lyytikäinen, Leo Pekka, Wang, L., I. R. König (7608923), Goodall, A., Boerwinkle, Eric, Thiery, J., Demuth, Ilja,, Lind, Lars, Tikkanen, E., Lannfelt, L., Kyriakou, T, Zhao, Wei, Mehra, N, Zhang, W, Boerwinkle, E, Stewart, Alexandre F.,, Stirrups, KE, M. Perola (7605860), Konig, I.R., Gieger, C, Wang, L.Y., Chen, S., Palmer, Colin N., Willenborg, Christina, Jukema, JW, Chen, Shufeng,, Goel, Anuj, Zeng, Lingyao, M. Farrall (6522599), Stirrups, K., Watkins, H., Bertram, Lars,, Nieminen, M., Memon, F., Jukema, J., M. Samuel (3483809), Danesh, J., Zhang, W.H., Anand, SS, Peters, Annette,, Kanoni, S, Ardissino, D., Kooner, J., Chasman, Daniel I, R. J. F. Loos (7725731), Nieminen, MS, Stirrups, Kathleen E, Saleheen, D, Anand, S., Salomaa, V, T. Esko (7626638), Mallick, Nadeem H., Ford, Ian, Perola, M, Nikpay, M, C. M. Lindgren (7611374), Borecki, Ingrid B, T. B. Harris (7605353), Han, BG, Gustafsson, S., Gottesman, Omri,, A. Uitterlinden (7640531), Won, H-H, Auro, K., Shah, S., Lu, Xifeng, N. Franceschini (7625954), Magnusson, PK, Elousa, R, Rasheed, A., E. Mihailov (7645184), Bottinger, Erwin P.,, Nieminen, Markku S, Koenig, Inke R., Loos, Ruth J.F., Huang, J, Shah, SH, Kanoni, S., Magnusson, P., Franco, OH, Han, B., Kullo, I.J., Hofman, Albert,, A. Metspalu (7626776), Schunkert, H., Morris, Andrew P, K. Auro (7809110), Gauguier, Dominique,, Esko, T, Buring, JE, Maerz, Winfried,, Kullo, Iftikhar J.,, Thompson, John R, Franceschini, Nora, Goel, A., Epstein, Stephen E.,, Hall, Leanne M., Thompson, John R., Uitterlinden, A, B. -.J. Kim (7809104), Lokki, Marja-Liisa, Anand, S.S., Erdmann, J., Rader, Daniel J.,, Rader, Daniel J, Yang, X, Lieb, Wolfgang,, Frossard, Philippe, Webb, Thomas R., Tikkanen, Emmi, I. Demuth (7809101), Alver, Maris, Reilly, M., Tikkanen, Emmi,, Franceschini, Nora,, Grace, Christopher,, Lund University., Zaman, K.S., Ridker, PM, Jukema, J.W., Goodall, Alison H.,, Gu, D., Consortium, C, Memon, Fazal-ur-Rehman,, T. L. Assimes (7605317), McPherson, R, Lu, Y.C., Reilly, MP, Nelson, Christopher P., Elosua, R, Rallidis, Loukianos S, Gudnason, V, Deloukas, P., Kleber, Marcus E, Cupples, L., Pervjakova, Natalia,, E. P. Bottinger (7689854), Ridker, P., Buring, J., S. Kathiresan (7606013), Mihailov, E, Dehghan, A., Qu, L.M., Collins, Rory,, Lu, Xiangfeng,, Cupples, LA, Kessler, T., Memon, F.U.R., Rose, Lynda M., Smith, Albert V., Chambers, John C., Beutner, Frank, Morris, Andrew P., Anand, Sonia S, J. C. Hopewell (7605365), L. Zeng (7646108), Uitterlinden, A., Kullo, I., Lannfelt, Lars, I. Ford (5772110), B. -G. Han (7809077), Sinisalo, Juha, Bottinger, Erwin P, Harris, TB, Rader, D., Haber, M., Deloukas, Panos, A. Goel (7602413), Lind, L, Kullo, IJ, Harris, T., Vries, P.S. de, Kanoni, Stavroula,, Saleheen, D., Stewart, A.F., Hall, Leanne M.,, Magnusson, Patrik K.,, Bottinger, Erwin P., Collins, Rory, Rader, DJ, Epstein, Stephen E, Hofman, Albert, Mehra, Narinder, Lehtimaki, T, Koenig, IR, Chen, S, Willenborg, C, Huang, Jianfeng, Perola, Markus,, Meitinger, Thomas, M. E. Kleber (7605227), Jalilzadeh, S., Hazen, Stanley, Samuel, Maria, M. Alver (7645130), A. Hamsten (7602395), Hamsten, A, Kanoni, Stavroula, Assimes, Themistocles L, Armasu, Sebastian M, Scholz, Markus, Schunkert, Heribert,, Estirrups, K, Elver, Maris, Assimes, TL, S. M. Armasu (7809107), Gottesman, O, Assimes, T., Roberts, R, Lindgren, Cecilia M.,, Karhunen, P.J., N. L. Pedersen (7609403), R. Clarke (7602407), Erdmann, Jeanette,, Shah, Svati H., Lind, Lars,, Thiery, Joachim, Nelson, Christopher P, Quertermous, Thomas,, Morrison, Alanna C.,, Beutner, Frank,, E. Tikkanen (7718189), Nieminen, M.S., Kyriakou, Theodosios,, Zalloua, P.A., Gudnason, V., van Zuydam, Natalie R, Gustafsson, Stefan,, Lindgren, Cecilia M., Lehtimaki, Terho, Karhunen, Pekka J., Hazen, Stanley L, Magnusson, P.K., Tikkanen, E, J. Thiery (7780376), Esko, Tonu,, Watkins, Hugh,, Samani, Nilesh J., Shah, Svati H.,, J. Danesh (7605383), Hofman, Bert, Jukema, J Wouter, Watkins, H, Haber, Marc; id_orcid, Buring, Julie E., Dehghan, A, Lokki, M-L, Schwartz, Stephen M.,, Feitosa, Mary F., Webb, T., Buring, J.E., Armasu, S.M., Hall, Alistair S.,, Yang, Xueli,, Hamsten, A., Salfati, Elias,, Kleber, ME, Won, Hong-Hee,, Gieger, C., Alver, M, Kleber, M., Anand, Sonia S., Iribarren, C, Armasu, Sebastian M., Chambers, J., van Zuydam, Natalie R.,, Ridker, Paul M, S. S. Anand (7609130), Y. Lu (1469287), Lhazen, S, Mallick, Nadeem H, A. Dehghan (7626011), T. Lehtimäki (3495257), S. Chen (473170), Morrison, Alanna C., O'Donnell, Christopher J., X. Yang (2201716), Kessler, T, I. B. Borecki (7685702), D. I. Chasman (7605179), J. Sinisalo (6254942), Harris, T.B., Webb, TR, Auro, K, Clarke, Robert, Chambers, John C.,, Chambers, JC, Dedoussis, George, Samuel, Maria,, Hall, Alistair, Zaman, Khan S., L. A. Cupples (7605977), L. S. Rallidis (7626911), Gieger, Christian,, Lokki, M.L., L. M. Rose (7685768), Peters, A., Won, Hong Hee, Palmer, Colin N, Nelson, Christopher P.,, Metspalu, A., Clarke, R., Qu, Liming,, de Andrade, M., Rallidis, Loukianos S., Samani, Nilesh J.,, Zaman, Khan S.,, Gu, Dongfeng,, Yang, Xueli, H. Schunkert (7603670), Metspalu, A, S. Gustafsson (7698278), Saxena, Richa, E. Boerwinkle (7609103), O. Melander (7602683), Zalloua, Pierre A, C. Hengstenberg (7603694), Harris, Tamara B., Lau, K.W., Zaman, K., Lind, L., Zhang, Weihua,, Epstein, Stephen E., Karhunen, P., Gudnason, Vilmundur, O' Donnell, CJ, Uitterlinden, André; id_orcid, Farrall, Martin, Won, H., V. Gudnason (7605347), Karhunen, PJ, Haber, Marc, Saxena, R., Rallidis, L.S., Zaman, KS, Hall, Leanne M, Won, HH, Feitosa, Mary F.,, MLindgren, Cecilia, R. Collins (7159586), Jalilzadeh, S, Roberts, Robert,, Goodall, Alison H., Clarke, R, Iribarren, Carlos,, Dedoussis, G, M. F. Feitosa (7685738), O'Donnell, C.J., Rader, D.J., Lyytikäinen, L., Uitterlinden, Andre,, Dedoussis, George,, Grace, C., Loos, Ruth J. F.,, Haber, M, Meitinger, T, Bottinger, E.P., Zhao, W., Kim, B.J., Danesh, John, Hazen, S., König, I., Kim, BJ, Han, B.G., Hengstenberg, C., Zeng, L., Assimes, T.L., März, W., Hazen, SL, Pedersen, Nancy L.,, Lu, Y, König, IR, Kim, B., R. McPherson (7605974), N. Mehra (7809086), Lu, X, Rasheed, Asif,, D. J. Rader (7605215), Peters, A, Kyriakou, Theodosios, Thiery, Joachim,, Yang, X.L., Feitosa, M.F., Lannfelt, Lars,, McPherson, Ruth, Melander, Olle, P. Deloukas (7603691), Reilly, Muredach P, Lindgren, C.M., J. Huang (2342368), S. Jalilzadeh (7785812), Quertermous, T, E. Ingelsson (7605335), Alver, Maris,, Zhang, Weihua, O. H. Franco (7625993), Nieminen, Markku S., Sinisalo, J, Hofman, A, A. Hofman (4269889), Hopewell, Jemma C, H. Watkins (7602419), L. M. Hall (7809071), Hall, A.S., S. L. Hazen (7668347), Won, Hong-Hee, J. R. Thompson (6440546), W. März (7609394), Hopewell, JC, Trompet, S, Gustafsson, S, Kyriakou, T., Zalloua, PA, Stewart, Alexandre F, L. Bertram (3538832), M. Scholz (7780346), Elosua, Roberto,, Hamsten, Anders,, Chen, S.F., Maerz, Winfried, Webb, T.R., Chen, Shufeng, Ingelsson, Erik,, Hopewell, J., Rasheed, A, Metspalu, Andres,, Zalloua, P., Kim, B-J, Goodall, Alison H, Boerwinkle, Eric,, F.-U.-R. Memon (7809089), Clarke, Robert,, Hamsten, Anders, Reilly, M.P., Metspalu, Andres   +928 more
core   +1 more source

Do we need more genome wide association studies?

Haematologica, 2021
Stephan Menzel
doaj   +1 more source

Evaluating confounding in rare variant genome wide association studies

Nature Communications
The theorised risk that confounded rare variant associations will emerge from population based genetic studies has not been investigated empirically.
Aimee L. Hanson, Gareth J. Griffith, Si Fang, Neil M. Davies, George Davey Smith, Daniel J. Lawson, Gibran Hemani   +6 more
doaj   +1 more source

Heterozygous loss‐of‐function alleles associate the conserved 3′‐5′ exoribonuclease EXOSC10 with hypersensitivity to the anticancer drug 5‐fluorouracil

Molecular Oncology, EarlyView.
EXOSC10, an essential nuclear RNA exosome‐associated 3′‐5′ exoribonuclease, is inhibited by the anticancer drug 5‐fluorouracil (5‐FU), and EXOSC10 depletion increases 5‐FU sensitivity. The colon‐cancer variant EXOSC10S402T, located in a proteolysis motif, is stable and nuclear but nonfunctional in vivo.
Radhika Sain, Yann Le Page, Frédéric Percevault, Emmanuelle Becker, Luc Negroni, Almudena Fernandez, Marta Cantero, Diego Muñoz‐Santos, Lluís Montoliu, Cyrille Garnier, Michael Primig   +10 more
wiley   +1 more source

Longitudinal circulating tumor DNA profiling in patients with advanced endometrial cancer using an off‐the‐shelf targeted NGS panel

Molecular Oncology, EarlyView.
Intratumour heterogeneity complicates precision management of advanced endometrial cancer. Circulating tumor DNA (ctDNA) offers a minimally invasive strategy to capture tumor evolution and therapeutic resistance. Here, we compare tumor‐agnostic NGS with tumor‐informed ddPCR, outlining their relative sensitivity, concordance, and clinical implications ...
Carlos Casas‐Arozamena, Karin Teien Lande, Eva Diaz, Ana Vilar, Juan Cueva, Efigenia Arias, Victoria Sampayo, Alicia Abalo, Nerea González, Eva Colás, Antonio Gil‐Moreno, Miguel Abal, Gema Moreno‐Bueno, Therese Sørlie, Kristina Lindemann, Laura Muinelo‐Romay   +15 more
wiley   +1 more source

Genome‐wide association study of carotenoids in maize kernel

The Plant Genome
Plain Language Summary In this study, the contents of four carotenoids in 244 maize inbred lines were detected and about three million single nucleotide polymorphisms (SNPs) for genome‐wide association study to preliminarily analyze the genetic mechanism
Weiwei Chen, Xiangbo Zhang, Chuanli Lu, Hailong Chang, Zaid Chachar, Lina Fan, Yuxing An, Xuhui Li, Yongwen Qi   +8 more
doaj   +1 more source

Interpreting the effects of DNA polymerase variants at the structural level

Molecular Oncology, EarlyView.
Using MAVISp and molecular dynamics simulations, we analyzed over 60 000 missense variants in POLE and POLD1 from ClinVar, COSMIC, cBioPortal, and saturation mutagenesis. Identified mechanistic indicators, including stability, binding, and long‐range, enable structural interpretation, providing ACMG‐like evidence for possible reclassification of VUS ...
Matteo Arnaudi, Karolina Krzesińska, Ludovica Beltrame, Pablo Sánchez‐Izquierdo Besora, Matteo Tiberti, Mef Nilbert, Anna Rohlin, Elena Papaleo   +7 more
wiley   +1 more source

Proteasome inhibitor, ixazomib prevents topoisomerase‐I degradation and reverses irinotecan resistance in colorectal cancer

Molecular Oncology, EarlyView.
Ixazomib inhibits proteasome‐mediated degradation of topoisomerase I induced by irinotecan, thereby restoring drug sensitivity and promoting tumor cell death in colorectal cancer. Irinotecan, a topoisomerase I (topoI) inhibitor, is widely used for colorectal cancer, but resistance remains a major clinical challenge.
Yuho Ebata, Koji Ando, Hirofumi Hasuda, Koshi Mimori, Elizabeth C. Unan, Siddhartha Pulukuri, Aahana Tiku, Allison Berger, Eiji Oki, Ajit Bharti, Tomoharu Yoshizumi   +10 more
wiley   +1 more source

DNA methylation and expression of MAPRE3 affect overall survival of early‐stage non‐small cell lung cancer patients

Molecular Oncology, EarlyView.
Both cg12821679MAPRE3 methylation and MAPRE3 expression are significantly associated with overall survival (OS) of non‐small cell lung cancer. Meanwhile, MAPRE3 expression significantly modified the effect of smoking cessation on OS. Smoking cessation benefits OS merely for patients with high MAPRE3 expression.
Chao Chen, Jiancheng Cheng, Ruili Hou, Xiaoyuan Zheng, Li Su, Maria Moksnes Bjaanæs, Anna Karlsson, Maria Planck, Johan Staaf, Åslaug Helland, Manel Esteller, David C. Christiani, Feng Chen, Xiaofei Cao, Ruyang Zhang   +14 more
wiley   +1 more source

Clinical performance of the urine‐based TERT promoter AbsoluteQ Digital PCR for non‐invasive detection of bladder cancer

Molecular Oncology, EarlyView.
A urine‐based digital PCR assay targeting two hotspot TERT promoter variants detected bladder cancer with high sensitivity and no false positives in this case–control cohort. The streamlined AbsoluteQ workflow outperformed Sanger sequencing and supports non‐invasive molecular testing for bladder cancer detection.
Anna Nykel, Izabela Kubiak, Lena Rutkowska, Żaneta Kasprzyk, Łukasz Kępczyński, Michał Bednarek, Dariusz Sobieraj, Jacek Wilkosz, Piotr Kania, Adam Jędrzejczyk, Bogdan Kałużewski, Agnieszka Gach, Tadeusz Kałużewski   +12 more
wiley   +1 more source