Zobrazeno 1 - 10
of 129
pro vyhledávání: '"DNA Mutational Analysi"'
Autor:
Giacomo Calzetti, Chiara La Morgia, Marco Cattaneo, Arturo Carta, Francesca Bosello, Giulia Amore, Michele Carbonelli, Maria Lucia Cascavilla, Stefano Gandolfi, Valerio Carelli, Leopold Schmetterer, Hendrik P. N. Scholl, Piero Barboni
Publikováno v:
Investigative Ophthalmology & Visual Science
Journal: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE Invest Ophthalmol Vis Sci. 2022 Jan 3;63(1):43. doi: 10.1167/iovs.63.1.43. PMID: 35098304; PMCID: PMC8802032 Abstract Purpose:The purpose of this study was to evaluate optic disk perfusion and neu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a8c10042c90611b2b4b46fc9dbd7ab1
http://hdl.handle.net/11562/1056979
http://hdl.handle.net/11562/1056979
Autor:
Nicola Fusco, Umberto Malapelle, Fabio Pagni, Elham Sajjadi, Matteo Fassan, Massimiliano Salati, Konstantinos Venetis, Michele Ghidini
Gastroesophageal adenocarcinoma (GEA) is a global health issue with a high fatality-to-case ratio and a 5-year overall survival that has only slightly improved. High-throughput molecular profiling has uncovered a profound complexity and heterogeneity
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eaea9513f19bddce6b2af35f50557a7b
http://hdl.handle.net/11577/3410835
http://hdl.handle.net/11577/3410835
Autor:
Wang T., Hoekzema K., Vecchio D., Wu H., Sulovari A., Coe B. P., Gillentine M. A., Wilfert A. B., Perez-Jurado L. A., Kvarnung M., Sleyp Y., Earl R. K., Rosenfeld J. A., Geisheker M. R., Han L., Du B., Barnett C., Thompson E., Shaw M., Carroll R., Friend K., Catford R., Palmer E. E., Zou X., Ou J., Li H., Guo H., Gerdts J., Avola E., Calabrese G., Elia M., Greco D., Lindstrand A., Nordgren A., Anderlid B. -M., Vandeweyer G., Van Dijck A., Van der Aa N., McKenna B., Hancarova M., Bendova S., Havlovicova M., Malerba G., Bernardina B. D., Muglia P., van Haeringen A., Hoffer M. J. V., Franke B., Cappuccio G., Delatycki M., Lockhart P. J., Manning M. A., Liu P., Scheffer I. E., Brunetti Pierri N., Rommelse N., Amaral D. G., Santen G. W. E., Trabetti E., Sedlacek Z., Michaelson J. J., Pierce K., Courchesne E., Kooy R. F., Acampado J., Ace A. J., Amatya A., Astrovskaya I., Bashar A., Brooks E., Butler M. E., Cartner L. A., Chin W., Chung W. K., Daniels A. M., Feliciano P., Fleisch C., Ganesan S., Jensen W., Lash A. E., Marini R., Myers V. J., O'Connor E., Rigby C., Robertson B. E., Shah N., Shah S., Singer E., Snyder L. A. G., Stephens A. N., Tjernagel J., Vernoia B. M., Volfovsky N., White L. C., Hsieh A., Shen Y., Zhou X., Turner T. N., Bahl E., Thomas T. R., Brueggeman L., Koomar T., Michael R. J., O'Roak B. J., Barnard R. A., Gibbs R. A., Muzny D., Sabo A., Ahmed K. L. B., Eichler E. E., Siegel M., Abbeduto L., Hilscher B. A., Li D., Smith K., Thompson S., Albright C., Butter E. M., Eldred S., Hanna N., Jones M., Coury D. L., Scherr J., Pifher T., Roby E., Dennis B., Higgins L., Brown M., Alessandri M., Gutierrez A., Hale M. N., Herbert L. M., Schneider H. L., David G., Annett R. D., Sarver D. E., Arriaga I., Camba A., Gulsrud A. C., Haley M., McCracken J. T., Sandhu S., Tafolla M., Yang W. S., Carpenter L. A., Bradley C. C., Gwynette F., Manning P., Shaffer R., Thomas C., Bernier R. A., Fox E. A., Gerdts J. A., Pepper M., Ho T., Cho D., Piven J., Lechniak H., Soorya L. V., Gordon R., Wainer A., Yeh L., Ochoa-Lubinoff C., Russo N., Berry-Kravis E., Booker S., Erickson C. A., Prock L. M., Pawlowski K. G., Matthews E. T., Brewster S. J., Hojlo M. A., Abada E., Lamarche E., Murali S. C., Harvey W. T., Kaplan H. E., Pierce K. L., DeMarco L., Horner S., Pandey J., Plate S., Sahin M., Riley K. D., Carmody E., Constantini J., Esler A., Fatemi A., Hutter H., Landa R. J., McKenzie A. P., Neely J., Singh V., Van Metre B., Wodka E. L., Fombonne E. J., Huang-Storms L. Y., Pacheco L. D., Mastel S. A., Coppola L. A., Francis S., Jarrett A., Jacob S., Lillie N., Gunderson J., Istephanous D., Simon L., Wasserberg O., Rachubinski A. L., Rosenberg C. R., Kanne S. M., Shocklee A. D., Takahashi N., Bridwell S. L., Klimczac R. L., Mahurin M. A., Cotrell H. E., Grant C. A., Hunter S. G., Martin C. L., Taylor C. M., Walsh L. K., Dent K. A., Mason A., Sziklay A., Smith C. J., Nordenskjold M., Romano C., Peeters H., Gecz J., Xia K.
Publikováno v:
Nature communications, vol 11, iss 1
Nature Communications, 11
Nature communications
Nature Communications, 11, 1
Nature Communications
Nature Communications, Vol 11, Iss 1, Pp 1-13 (2020)
Nature Communications, 11(1). NATURE RESEARCH
Nature Communications, 11
Nature communications
Nature Communications, 11, 1
Nature Communications
Nature Communications, Vol 11, Iss 1, Pp 1-13 (2020)
Nature Communications, 11(1). NATURE RESEARCH
Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the significance in case–control mutation burden analysis is unestablished. Here, we sequence 63 genes in 16,294 NDD cases
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd59829750fcbc0b802de5b3fb7bdab7
https://escholarship.org/uc/item/9mh106j1
https://escholarship.org/uc/item/9mh106j1
Autor:
Elsa Bernard, Yasuhito Nannya, Robert P. Hasserjian, Sean M. Devlin, Heinz Tuechler, Juan S. Medina-Martinez, Tetsuichi Yoshizato, Yusuke Shiozawa, Ryunosuke Saiki, Luca Malcovati, Max F. Levine, Juan E. Arango, Yangyu Zhou, Francesc Solé, Catherine A. Cargo, Detlef Haase, Maria Creignou, Ulrich Germing, Yanming Zhang, Gunes Gundem, Araxe Sarian, Arjan A. van de Loosdrecht, Martin Jädersten, Magnus Tobiasson, Olivier Kosmider, Matilde Y. Follo, Felicitas Thol, Ronald F. Pinheiro, Valeria Santini, Ioannis Kotsianidis, Jacqueline Boultwood, Fabio P. S. Santos, Julie Schanz, Senji Kasahara, Takayuki Ishikawa, Hisashi Tsurumi, Akifumi Takaori-Kondo, Toru Kiguchi, Chantana Polprasert, John M. Bennett, Virginia M. Klimek, Michael R. Savona, Monika Belickova, Christina Ganster, Laura Palomo, Guillermo Sanz, Lionel Ades, Matteo Giovanni Della Porta, Harold K. Elias, Alexandra G. Smith, Yesenia Werner, Minal Patel, Agnès Viale, Katelynd Vanness, Donna S. Neuberg, Kristen E. Stevenson, Kamal Menghrajani, Kelly L. Bolton, Pierre Fenaux, Andrea Pellagatti, Uwe Platzbecker, Michael Heuser, Peter Valent, Shigeru Chiba, Yasushi Miyazaki, Carlo Finelli, Maria Teresa Voso, Lee-Yung Shih, Michaela Fontenay, Joop H. Jansen, José Cervera, Yoshiko Atsuta, Norbert Gattermann, Benjamin L. Ebert, Rafael Bejar, Peter L. Greenberg, Mario Cazzola, Eva Hellström-Lindberg, Seishi Ogawa, Elli Papaemmanuil
Publikováno v:
Nature Medicine, 26, 1549-1556
Bernard, E, Nannya, Y, Hasserjian, R P, Devlin, S M, Tuechler, H, Medina-Martinez, J S, Yoshizato, T, Shiozawa, Y, Saiki, R, Malcovati, L, Levine, M F, Arango, J E, Zhou, Y, Solé, F, Cargo, C A, Haase, D, Creignou, M, Germing, U, Zhang, Y, Gundem, G, Sarian, A, van de Loosdrecht, A A, Jädersten, M, Tobiasson, M, Kosmider, O, Follo, M Y, Thol, F, Pinheiro, R F, Santini, V, Kotsianidis, I, Boultwood, J, Santos, F P S, Schanz, J, Kasahara, S, Ishikawa, T, Tsurumi, H, Takaori-Kondo, A, Kiguchi, T, Polprasert, C, Bennett, J M, Klimek, V M, Savona, M R, Belickova, M, Ganster, C, Palomo, L, Sanz, G, Ades, L, Della Porta, M G, Smith, A G, Werner, Y, Patel, M, Viale, A, Vanness, K, Neuberg, D S, Stevenson, K E, Menghrajani, K, Bolton, K L, Fenaux, P, Pellagatti, A, Platzbecker, U, Heuser, M, Valent, P, Chiba, S, Miyazaki, Y, Finelli, C, Voso, M T, Shih, L Y, Fontenay, M, Jansen, J H, Cervera, J, Atsuta, Y, Gattermann, N, Ebert, B L, Bejar, R, Greenberg, P L, Cazzola, M, Hellström-Lindberg, E, Ogawa, S & Papaemmanuil, E 2020, ' Implications of TP53 allelic state for genome stability, clinical presentation and outcomes in myelodysplastic syndromes ', Nature Medicine, vol. 26, no. 10, pp. 1549-1556 . https://doi.org/10.1038/s41591-020-1008-z
Nature Medicine, 26(10), 1549-1556. Nature Publishing Group
Nature Medicine, 26, 10, pp. 1549-1556
Nat Med
Nature medicine, vol 26, iss 10
Bernard, E, Nannya, Y, Hasserjian, R P, Devlin, S M, Tuechler, H, Medina-Martinez, J S, Yoshizato, T, Shiozawa, Y, Saiki, R, Malcovati, L, Levine, M F, Arango, J E, Zhou, Y, Solé, F, Cargo, C A, Haase, D, Creignou, M, Germing, U, Zhang, Y, Gundem, G, Sarian, A, van de Loosdrecht, A A, Jädersten, M, Tobiasson, M, Kosmider, O, Follo, M Y, Thol, F, Pinheiro, R F, Santini, V, Kotsianidis, I, Boultwood, J, Santos, F P S, Schanz, J, Kasahara, S, Ishikawa, T, Tsurumi, H, Takaori-Kondo, A, Kiguchi, T, Polprasert, C, Bennett, J M, Klimek, V M, Savona, M R, Belickova, M, Ganster, C, Palomo, L, Sanz, G, Ades, L, Della Porta, M G, Smith, A G, Werner, Y, Patel, M, Viale, A, Vanness, K, Neuberg, D S, Stevenson, K E, Menghrajani, K, Bolton, K L, Fenaux, P, Pellagatti, A, Platzbecker, U, Heuser, M, Valent, P, Chiba, S, Miyazaki, Y, Finelli, C, Voso, M T, Shih, L Y, Fontenay, M, Jansen, J H, Cervera, J, Atsuta, Y, Gattermann, N, Ebert, B L, Bejar, R, Greenberg, P L, Cazzola, M, Hellström-Lindberg, E, Ogawa, S & Papaemmanuil, E 2020, ' Implications of TP53 allelic state for genome stability, clinical presentation and outcomes in myelodysplastic syndromes ', Nature Medicine, vol. 26, no. 10, pp. 1549-1556 . https://doi.org/10.1038/s41591-020-1008-z
Nature Medicine, 26(10), 1549-1556. Nature Publishing Group
Nature Medicine, 26, 10, pp. 1549-1556
Nat Med
Nature medicine, vol 26, iss 10
Tumor protein p53 (TP53) is the most frequently mutated gene in cancer1,2. In patients with myelodysplastic syndromes (MDS), TP53 mutations are associated with high-risk disease3,4, rapid transformation to acute myeloid leukemia (AML)5, resistance to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74af2480c025cf3f671ae3e8128cee31
https://doi.org/10.1038/s41591-020-1008-z
https://doi.org/10.1038/s41591-020-1008-z
Autor:
Iman Hajirasouliha, Mauricio Soto Gomez, Simone Ciccolella, Gianluca Della Vedova, Murray Patterson, Paola Bonizzoni
Publikováno v:
BMC Bioinformatics, Vol 21, Iss S1, Pp 1-16 (2020)
BMC Bioinformatics
ICCABS
BMC Bioinformatics
ICCABS
Background Cancer progression reconstruction is an important development stemming from the phylogenetics field, where the goal is to infer the mutational history of a set of tumor cells carrying these cancerous mutations. Many methods have been devel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3754edd792f3e6988cd7ad4e770ddc6
http://hdl.handle.net/10281/327429
http://hdl.handle.net/10281/327429
Autor:
Carlos L. Arteaga, Mark Clemons, Soulef Hachemi, Barbara Pistilli, Javier Cortes, José Baselga, Zefei Jiang, Norikazu Masuda, Agnieszka Jagiełło-Gruszfeld, Bharani Dharan, Seock–Ah –A Im, Masato Takahashi, Patrick Urban, Peter Vuylsteke, Ling Ming Tseng, Hiroji Iwata, Mario Campone, Walter Jonat, Yoshinori Ito, Sara A. Hurvitz, Ahmad Awada, Michele De Laurentiis, Cristian Massacesi, Stephen Chia, Emmanuelle di Tomaso
Publikováno v:
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
The Lancet. Oncology, vol 18, iss 7
Consejería de Sanidad de la Comunidad de Madrid
The Lancet. Oncology, vol 18, iss 7
BackgroundPhosphatidylinositol 3-kinase (PI3K) pathway activation is a hallmark of endocrine therapy-resistant, hormone receptor-positive breast cancer. This phase 3 study assessed the efficacy of the pan-PI3K inhibitor buparlisib plus fulvestrant in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e398a8fee0a6e9dd1ddee0b7688458f1
https://doi.org/10.1016/s1470-2045(17)30376-5
https://doi.org/10.1016/s1470-2045(17)30376-5
Autor:
Barbara Klink, Stefan Fröhling, Marie Groth, Peter Horak, Richard F. Schlenk, Evelin Schröck, Daniela Richter, Stephen Krämer, Benedikt Brors, Stephan E. Wolf, Priya Chudasama, Christof von Kalle, Christoph E. Heilig, Wilko Weichert, Francesco Raimondi, Jagoda Mika, Christian Brandts, Stefan Gröschel, Roland Penzel, Gregor Warsow, Eva Reisinger, Robert B. Russell, Katrin Pfütze, Claudia Scholl, Martina Fröhlich, Daniel Hübschmann, Christoph Heining, Stephan Richter, Hanno Glimm, Roland Eils, Sebastian Bauer, David Bonekamp, Barbara Hutter, Laura Gieldon, Sebastian Uhrig, Matthias Schlesner, Albrecht Stenzinger, Oliver Marschal, Kortine Kleinheinz
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-9 (2019)
Nature Communications
Web of Science
Nature Communications
Web of Science
Chordomas are rare bone tumors with few therapeutic options. Here we show, using whole-exome and genome sequencing within a precision oncology program, that advanced chordomas (n = 11) may be characterized by genomic patterns indicative of defective
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::634928631266b2b8cd2a0dc9614dde54
http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/50067
http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/50067
Autor:
Caterina Longo, Maria Concetta Fargnoli, Claudia Martorelli, Gianluca Cipolloni, Elvira Moscarella, Ambra Antonini, Roberto Alfano, Giuseppe Argenziano, Alessia Ciarrocchi, Cristina Pellegrini, Marco Manfredini, Emi Dika, Ketty Peris, Riccardo Pampena
Publikováno v:
Experimental dermatology. 28(7)
Background The association of clinical and dermoscopic features with BRAF mutational status has been poorly analysed in multiple primary melanomas (MPM). Objective To investigate whether concordance of BRAF mutational status is associated with dermos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd55216c61671e8a98d43c00dae94560
https://pubmed.ncbi.nlm.nih.gov/31034104
https://pubmed.ncbi.nlm.nih.gov/31034104
Autor:
Marco Tartaglia, Daniele Castiglia, Angelo Giuseppe Condorelli, Sabina Barresi, Ettore Capoluongo, Andrea Diociaiuti, Giulietta Scuvera, Cristina Has, May El Hachem, Vittoria Proto, Renata Boldrini
Publikováno v:
Acta Dermato-Venereologica, Vol 99, Iss 2, Pp 238-239 (2018)
No abstract
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54ce52814c9ff95038484e309cf98931
http://hdl.handle.net/11588/779599
http://hdl.handle.net/11588/779599
Autor:
Michael Heuser, Manoj Garg, T Haferlach, L. Z. Liu, Shih Ly, Yuichi Shiraishi, Takayuki Ikezoe, Michael Lill, Hwei-Fang Tien, Henry Yang, Ling-Wen Ding, Hagop M. Kantarjian, H P Koeffler, T. Ma, Yasunobu Nagata, Wolf-K. Hofmann, Qiao-Yang Sun, Satoru Miyano, Richard A. Larson, Noreen Fulton, Seishi Ogawa, Pavithra Shyamsunder, Masashi Sanada, Kamran Alimoghaddam, W. J. Chng, Norimichi Hattori, Saravanan Ganesan, Wendy Stock, Tamara Alpermann, S. Rostami, Ezhilarasi Chendamarai, Vikram Mathews, Kenichi Yoshida, Anand Mayakonda, Steve Kornblau, M. C. Kuo, Gregory Malnassy, Vikas Madan, Lin Han, A. Ghavamzadeh, Hsin-An Hou, Andrea Biondi, Bayard L. Powell, W. Chien, Jairo Matthews, Janani Sundaresan, Michael Lübbert, Daniel Nowak, Deepika Kanojia, Arnold Ganser, Kar Tong Tan, Maya Koren-Michowitz
Publikováno v:
Leukemia
Leukemia, vol 30, iss 8
Leukemia, vol 30, iss 8
Acute promyelocytic leukemia (APL) is a subtype of myeloid leukemia characterized by differentiation block at the promyelocyte stage. Besides the presence of chromosomal rearrangement t(15;17), leading to the formation of PML-RARA (promyelocytic leuk
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eabff8ee98bca50e1d595455051b6dc6
https://doi.org/10.1038/leu.2016.69
https://doi.org/10.1038/leu.2016.69