Results 31 to 40 of about 390,058 (293)
Pathogenic Germline Variants in 10,389 Adult Cancers [PDF]
Cell, 2018 We conducted the largest investigation of predisposition variants in cancer to date, discovering 853 pathogenic or likely pathogenic variants in 8% of 10,389 cases from 33 cancer types. Twenty-one genes showed single or cross-cancer associations, including novel associations of SDHA in melanoma and PALB2 in stomach adenocarcinoma.Huang, Kuan-lin, Mashl, R. Jay, Wu, Yige, Ritter, Deborah I., Wang, Jiayin, Oh, Clara, Paczkowska, Marta, Reynolds, Sheila, Wyczalkowski, Matthew A., Oak, Ninad, Scott, Adam D., Krassowski, Michal, Cherniack, Andrew D., Houlahan, Kathleen E., Jayasinghe, Reyka, Wang, Liang-Bo, Zhou, Daniel Cui, Liu, Di, Cao, Song, Kim, Young Won, Koire, Amanda, McMichael, Joshua F., Hucthagowder, Vishwanathan, Kim, Tae-Beom, Hahn, Abigail, Wang, Chen, McLellan, Michael D., Al-Mulla, Fahd, Johnson, Kimberly J., Lichtarge, Olivier, Boutros, Paul C., Raphael, Benjamin, Lazar, Alexander J., Zhang, Wei, Wendl, Michael C., Govindan, Ramaswamy, Jain, Sanjay, Wheeler, David, Kulkarni, Shashikant, Dipersio, John F., Reimand, Jüri, Meric-Bernstam, Funda, Chen, Ken, Shmulevich, Ilya, Plon, Sharon E., Chen, Feng, Ding, Li, Caesar-Johnson, Samantha J., Demchok, John A., Felau, Ina, Kasapi, Melpomeni, Ferguson, Martin L., Hutter, Carolyn M., Sofia, Heidi J., Tarnuzzer, Roy, Wang, Zhining, Yang, Liming, Zenklusen, Jean C., Zhang, Jiashan (Julia), Chudamani, Sudha, Liu, Jia, Lolla, Laxmi, Naresh, Rashi, Pihl, Todd, Sun, Qiang, Wan, Yunhu, Wu, Ye, Cho, Juok, DeFreitas, Timothy, Frazer, Scott, Gehlenborg, Nils, Getz, Gad, Heiman, David I., Kim, Jaegil, Lawrence, Michael S., Lin, Pei, Meier, Sam, Noble, Michael S., Saksena, Gordon, Voet, Doug, Zhang, Hailei, Bernard, Brady, Chambwe, Nyasha, Dhankani, Varsha, Knijnenburg, Theo, Kramer, Roger, Leinonen, Kalle, Liu, Yuexin, Miller, Michael, Reynolds, Sheila, Shmulevich, Ilya, Thorsson, Vesteinn, Zhang, Wei, Akbani, Rehan, Broom, Bradley M., Hegde, Apurva M., Ju, Zhenlin, Kanchi, Rupa S., Korkut, Anil, Li, Jun, Liang, Han, Ling, Shiyun, Liu, Wenbin, Lu, Yiling, Mills, Gordon B., Ng, Kwok-Shing, Rao, Arvind, Ryan, Michael, Wang, Jing, Weinstein, John N., Zhang, Jiexin, Abeshouse, Adam, Armenia, Joshua, Chakravarty, Debyani, Chatila, Walid K., de Bruijn, Ino, Gao, Jianjiong, Gross, Benjamin E., Heins, Zachary J., Kundra, Ritika, La, Konnor, Ladanyi, Marc, Luna, Augustin, Nissan, Moriah G., Ochoa, Angelica, Phillips, Sarah M., Reznik, Ed, Sanchez-Vega, Francisco, Sander, Chris, Schultz, Nikolaus, Sheridan, Robert, Sumer, S. Onur, Sun, Yichao, Taylor, Barry S., Wang, Jioajiao, Zhang, Hongxin, Anur, Pavana, Peto, Myron, Spellman, Paul, Benz, Christopher, Stuart, Joshua M., Wong, Christopher K., Yau, Christina, Hayes, D. Neil, Parker, Joel S., Wilkerson, Matthew D., Ally, Adrian, Balasundaram, Miruna, Bowlby, Reanne, Brooks, Denise, Carlsen, Rebecca, Chuah, Eric, Dhalla, Noreen, Holt, Robert, Jones, Steven J. M., Kasaian, Katayoon, Lee, Darlene, Ma, Yussanne, Marra, Marco A., Mayo, Michael, Moore, Richard A., Mungall, Andrew J., Mungall, Karen, Robertson, A. Gordon, Sadeghi, Sara, Schein, Jacqueline E., Sipahimalani, Payal, Tam, Angela, Thiessen, Nina, Tse, Kane, Wong, Tina, Berger, Ashton C., Beroukhim, Rameen, Cherniack, Andrew D., Cibulskis, Carrie, Gabriel, Stacey B., Gao, Galen F., Ha, Gavin, Meyerson, Matthew, Schumacher, Steven E., Shih, Juliann, Kucherlapati, Melanie H., Kucherlapati, Raju S., Baylin, Stephen, Cope, Leslie, Danilova, Ludmila, Bootwalla, Moiz S., Lai, Phillip H., Maglinte, Dennis T., Van Den Berg, David J., Weisenberger, Daniel J., Auman, J. Todd, Balu, Saianand, Bodenheimer, Tom, Fan, Cheng, Hoadley, Katherine A., Hoyle, Alan P., Jefferys, Stuart R., Jones, Corbin D., Meng, Shaowu, Mieczkowski, Piotr A., Perou, Charles M., Roach, Jeffrey, Fan, Huihui, Doddapaneni, HarshaVardhan, Shinbrot, Eve, Wang, Linghua, Bailey, Matthew, Bowen, Jay, Hovens, Christopher, Carvalho, Andre L., de Carvalho, Ana C., Reis, Rui M., Silveira, Henrique C. S., Anderson, Matthew L., Lyadov, Vladimir, Setdikova, Galiya, Shabunin, Alexey, Tavobilov, Mikhail, Feltmate, Colleen, Barnholtz-Sloan, Jill S., De Rose, Agostino, Giuliante, Felice, Lacombe, Louis, Bergeron, Alain, Lipp, Eric, McCall, Shannon, Khuri, Fadlo, Looijenga, Leendert, Calatozzolo, Chiara, Cuzzubbo, Stefania, DiMeco, Francesco, Finocchiaro, Gaetano, Mattei, Luca, Perin, Alessandro, Pollo, Bianca, Gabra, Hani, Beuschlein, Felix, Bryce, Alan H., Ho, Thai, Roberts, Lewis, Ajani, Jaffer A., Hersey, Peter, Jakrot, Valerie, Kakavand, Hojabr, Long, Georgina, Mann, Graham, Scolyer, Richard, Shannon, Kerwin, Wilmott, James, Moncrieff, Marc, Thomas, George, Hayward, Nicholas, Facciolo, Francesco, Marino, Mirella, Birsoy, Kivanc, Pennell, Nathan A., Alvaro, Domenico, Bragazzi, Maria Consiglia, Cardinale, Vincenzo, Moiseenko, Fedor, Dhanasekaran, Renumathy, Becker, Karl-Friedrich, Cebulla, Colleen M., Rai, Karan, Asa, Sylvia L., Schlomm, Thorsten, von Deimling, Andreas, Bossler, Aaron, Ma, Deqin, Milhem, Mohammed, Adebamowo, Clement, Adebamowo, Sally N., Boussioutas, Alex, Giordano, Thomas, Carlotti, Carlos Gilberto, Dos Santos, Jose Sebastião, Catto, James, Creaney, Jenette, Fong, Kwun M., Yang, Ian, Rathmell, W. Kimryn, Kovatich, Albert J., Rubin, Mark A., Aredes, Natália D., Mariamidze, Armaz +285 moreopenaire +7 more sourcesNew pathogenic germline variants identified in mesothelioma [PDF]
Lung Cancer, 2023 Mesothelioma (MM) is associated with asbestos exposure, tumor heterogeneity and aggressive clinical behavior. Identification of germline pathogenic variants (PVs) in mesothelioma is relevant for identifying potential actionable targets and genetic counseling.44 patients underwent whole exome sequencing (WES) or whole genome sequencing (WGS).Laila Belcaid, Birgitte Bertelsen, Karin Wadt, Ida Tuxen, Iben Spanggaard, Martin Højgaard, Jens Benn Sørensen, Jesper Ravn, Ulrik Lassen, Finn Cilius Nielsen, Kristoffer Rohrberg, Christina Westmose Yde +11 moreopenaire +3 more sourcesPrevalence of gene mutations in a Chinese 46,XY disorders of sex development cohort detected by targeted next-generation sequencing
Asian Journal of Andrology, 2021 46,XY disorders of sex development (DSD) is characterized by incomplete masculinization genitalia, with gonadal dysplasia and with/without the presence of Müllerian structures. At least 30 genes related to 46,XY DSD have been found. However, the clinical Bing-Qing Yu, Zhao-Xiang Liu, Yin-Jie Gao, Xi Wang, Jiang-Feng Mao, Min Nie, Xue-Yan Wu +6 moredoaj +1 more sourcePathogenic Variants of Urolithiasis
Pediatrician (St. Petersburg), 2017 The essence of Urolithiasis - one of the oldest diseases known by the mankind - is still not understood completely. For a long time the comprehension of Urolithiasis was based on matrix, colloid, ionic, inhibitory and precipitation theories. In these cases it was impossible to single out separate pathogenetic patterns.Petr S Baketin, Rashid A Mollaev, Denis A Mazurenko, Vladislav E Grigoryev, Nariman K Gadzhiev, Vladimir M Obidnyak, Alexey V Pisarev, Nair S Tagirov, Vigen A Malkhasyan, Sergey B Petrov, Sergei V Popov +10 moreopenaire +2 more sourcesExonic WT1 pathogenic variants in 46,XY DSD associated with gonadoblastoma
Endocrine Connections, 2021 Objective: The literature regarding gonadoblastoma risk in exonic Wilms’ tumor suppressor gene (WT1) pathogenic variants is sparse. The aim of this study is to describe the phenotypic and genotypic characteristics of Asian–Indian patients with WT1 ...Sneha Arya, Sandeep Kumar, Anurag R Lila, Vijaya Sarathi, Saba Samad Memon, Rohit Barnabas, Hemangini Thakkar, Virendra A Patil, Nalini S Shah, Tushar R Bandgar +9 moredoaj +1 more sourceDNA methylation profiling to assess pathogenicity of BRCA1 unclassified variants in breast cancer [PDF]
, 2015 Germline pathogenic mutations in BRCA1 increase risk of developing breast cancer. Screening for mutations in BRCA1 frequently identifies sequence variants of unknown pathogenicity and recent work has aimed to develop methods for determining pathogenicity.AFFECT, Brown, R, El-Bahrawy, M, Flanagan, JM, Flower, KJ, Goldgar, DE, KConFab, Morris, JR, Parsons, MT, Shenker, NS, Spurdle, AB +10 morecore +1 more sourceAnalysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer disease [PDF]
, 2017 Alzheimer disease (AD), Frontotemporal lobar degeneration (FTD), Amyotrophic lateral sclerosis (ALS) and Parkinson disease (PD) have a certain degree of clinical, pathological and molecular overlap.Alexandra Medvedeva, Alison Goate, Ben Saef, Carlos Cruchaga, Joanne Norton, John C. Morris, John P. Budde, Jong Hun Kim, Jorge Del-Aguila, Kathleen Black, Laura Ibañez, Maria Victoria Fernández, null null, null null, Oscar Harari, Rachel Chasse, Umber Dube, Yuetiva Deming +17 morecore +4 more sourcesPathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation [PDF]
, 2018 FUK encodes fucokinase, the only enzyme capable of converting L-fucose to fucose-1-phosphate, which will ultimately be used for synthesizing GDP-fucose, the donor substrate for all fucosyltransferases.Bearden, David R., Burrage, Lindsay C., Craigen, William J., Emrick, Lisa, Freeze, Hudson H., Graham, Brett H., Jain, Mahim, Lee, Brendan, Ng, Bobby G., Rosenfeld, Jill A. +9 morecore +1 more source
