Results 181 to 190 of about 157,645 (329)

Genomic Profiling of Childhood Tumor Patient-Derived Xenograft Models to Enable Rational Clinical Trial Design. [PDF]

, 2019
Accelerating cures for children with cancer remains an immediate challenge as a result of extensive oncogenic heterogeneity between and within histologies, distinct molecular mechanisms evolving between diagnosis and relapsed disease, and limited ...
Baxter, Patricia, Bendak, Katerina, Berko, Esther R, Bowen, Jay, Braun, Frank K, Bryan, Anthony C, Böhm, Julia W, Cardenas, Maria F, Chen, Yidong, Coppens, Sara E, Cross, Katherine L, Diskin, Sharon J, Doddapaneni, HarshaVardhan, Du, Yunchen, Egolf, Laura E, Evans, Kathryn, Farrel, Alvin, Gaonkar, Krutika S, Gastier-Foster, Julie M, Gatto, Gregory J, Gorlick, Richard, Greene, Casey S, Haber, Michelle, Hart, Lori S, Haussler, David, Houghton, Peter J, Jayaseelan, Joy, Kalletla, Karthik, Kendsersky, Nathan M, Kolb, E Anders, Krytska, Kateryna, Kurmashev, Dias, Kurmasheva, Raushan T, Leraas, Kristen M, Li, Xiao-Nan, Lindsay, Holly B, Lock, Richard B, Lopez, Gonzalo, Maris, John M, Marshall, Glenn M, Mayoh, Chelsea, McCalmont, Hannah, McCoy, Kristyn, Modi, Apexa, Momin, Zeineen, Morton, Christopher, Mosse, Yael P, Nance, Jonas, Patel, Khushbu, Pfeil, Jacob, Qi, Lin, Raman, Pichai, Rathi, Komal S, Reynolds, C Patrick, Rokita, Jo Lynne, Sacks, Gregory I, Sanchez, Yolanda, Shu, Jack, Smith, Malcolm A, Tyrrell, Vanessa, Upton, Kristen A, Vaksman, Zalman, Vaske, Olena Morozova, Way, Gregory P, Wheeler, David A, Zhang, Huiyuan, Zhang, Wendong, Zhao, Sibo, Zheng, Siyuan   +68 more
core  

Low RYR2 Level Relates to Poor Prognosis of Patients With Lung Adenocarcinoma by Promoting Tumor Cell Proliferation and Inhibiting Immune Cell Infiltration

Biotechnology and Applied Biochemistry, EarlyView.
ABSTRACT Ryanodine receptor type 2 (RYR2) is a large calcium channel that has been identified as one of the most frequently mutated genes in lung adenocarcinoma (LUAD). Despite its potential significance, the role of RYR2 in LUAD remains poorly understood.
Tao Wang, Baozhen Wang, Zhongting Lu, Tao Li   +3 more
wiley   +1 more source

Identification of new breast cancer predisposition genes via whole exome sequencing [PDF]

, 2012
Melissa C. Southey, DJ Park, Fabienne Lesueur, Fabrice Odefrey, Tú Nguyen‐Dumont, Fleur Hammet, S L Neuhausen, EM John, IL Andrulis, Georgia Chenevix‐Trench, Laura Baglietto, Florence Le Calvez‐Kelm, Maroulio Pertesi, Andrew Lonie, Bernard J. Pope, Olga M. Sinilnikova, Helen Tsimiklis, GG Giles, JL Hopper, SV Tavtigian, DE Goldgar   +20 more
openalex   +1 more source

Pitfalls of whole exome-sequencing: hidden DYNC2H1 mutations in patients with Jeune asphyxiating thoracic dystrophy [PDF]

, 2012
Heleen H. Arts, Miriam Schmidts, E. M. Bongers, M. M. Oud, LEM Duijkers, Zhimin Yap, Jim Stalker, JL Yntema, Alexander Hoischen, Christian Gilissen, Joris A. Veltman, Anna Kutkowska‐Kaźmierczak, EJ Kamsteeg, Peter Scambler, PL Beales, Nvam Knoers, Ronald Roepman, Hannah M. Mitchison   +17 more
openalex   +1 more source

Pan‐cancer analysis shapes the understanding of cancer biology and medicine

Cancer Communications, EarlyView.
Abstract Advances in multi‐omics datasets and analytical methods have revolutionized cancer research, offering a comprehensive, pan‐cancer perspective. Pan‐cancer studies identify shared mechanisms and unique traits across different cancer types, which are reshaping diagnostic and treatment strategies.
Xiaoping Cen, Yuanyuan Lan, Jiansheng Zou, Ruilin Chen, Can Hu, Yahan Tong, Chen Zhang, Jingyue Chen, Yuanmei Wang, Run Zhou, Weiwei He, Tianyu Lu, Fred Dubee, Dragomirka Jovic, Wei Dong, Qingqing Gao, Man Ma, Youyong Lu, Yu Xue, Xiangdong Cheng, Yixue Li, Huanming Yang   +21 more
wiley   +1 more source

Extranodal diffuse large B‐cell lymphoma: Clinical and molecular insights with survival outcomes from the multicenter EXPECT study

Cancer Communications, EarlyView.
Abstract Background Diffuse large B‐cell lymphoma (DLBCL) is the most common subtype of aggressive non‐Hodgkin's lymphoma with distinct clinical and molecular heterogeneity. DLBCL that arises in extranodal organs is particularly linked to poor prognosis. This study aimed to determine the clinical and molecular characteristics of extranodal involvement (
Si‐Yuan Chen, Peng‐Peng Xu, Ru Feng, Guo‐Hui Cui, Li Wang, Shu Cheng, Rong‐Ji Mu, Hui‐Lai Zhang, Xiao‐Lei Wei, Yong‐Ping Song, Kai‐Yang Ding, Li‐Hua Dong, Zun‐Min Zhu, Shen‐Miao Yang, Xin Wang, Ting‐Bo Liu, Jian‐Da Hu, Xiao‐Yun Zheng, Ou Bai, Jing‐Yan Xu, Liang Huang, Wei Sang, Ke‐Qian Shi, Fan Zhou, Fei Li, Ai‐Bin Liang, Hui Zhou, Si‐Guo Hao, Hong‐Hui Huang, Bin Xu, Wen‐Bin Qian, Cai‐Xia Li, Zhi‐Ming Li, Chong‐Yang Wu, Xiao‐Bo Wang, Wen‐Yu Shi, Shu‐Ye Wang, Yu‐Yang Tian, Xi Zhang, Ke‐Shu Zhou, Li‐Juan Cui, Hui Liu, Huo Tan, Qing Leng, Dong‐Lu Zhao, Ting Niu, Wei‐Li Zhao   +46 more
wiley   +1 more source

A case of polyglucosan body myopathy caused by an RBCK1 gene variant and literature review

Molecular Genetics & Genomic Medicine
Objective To analyze the clinical and genetic characteristics of a patient with Polyglucosan body myopathy 1 (PGBM1) caused by a novel compound heterozygous variant in the RBCK1 gene.
Qiqing Sun, Zhenhua Xie, Lifang Song, Dapeng Fu   +3 more
doaj   +1 more source

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

, 2012
Stephan Sanders, Michael T. Murtha, Abha R. Gupta, John D. Murdoch, Melanie J. Raubeson, A. Jeremy Willsey, A. Gulhan Ercan‐Sencicek, Nicholas M. DiLullo, Neelroop Parikshak, Jason L. Stein, Michael F. Walker, G Ober, Nicole A. Teran, Youeun Song, Paul El-Fishawy, Ryan Murtha, Murim Choi, John D. Overton, Robert Bjornson, Nicholas Carriero, Kyle A. Meyer, Kaya Bilgüvar, Shrikant Mane, Nenad Šestan, Richard P. Lifton, Murat Günel, Kathryn Roeder, Daniel H. Geschwind, Bernie Devlin, Matthew W. State   +29 more
openalex   +2 more sources

Evaluating a general pediatric/adult genetic counseling clinic in a Midwest medical center

Journal of Genetic Counseling, Volume 31, Issue 6, Page 1282-1289, December 2022., 2022
Abstract In 2018, the Munroe‐Meyer Institute for Genetics & Rehabilitation (MMI) at the University of Nebraska Medical Center (UNMC) in Omaha, NE created a genetic counseling clinic (GCC) to increase access to genetics services and decrease the time spent between a referral and being seen in a general genetics outpatient clinic.
Charlie King, Shelly Nielsen, Andrew Schmanski, Omar Abdul‐Rahman, Kristen P. Fishler   +4 more
wiley   +1 more source

Whole Exome Sequencing in Monogenic Dyslipidemias

Journal of Atherosclerosis and Thrombosis, 2015
Kenshi Hayashi, Masa-aki Kawashiri, Hayato Tada, Masakazu Yamagishi   +3 more
openaire   +4 more sources