Results 91 to 100 of about 178,713 (349)

A case report and genetic characterization of a massive acinic cell carcinoma of the parotid with delayed distant metastases. [PDF]

, 2013
We describe the presentation, management, and clinical outcome of a massive acinic cell carcinoma of the parotid gland. The primary tumor and blood underwent exome sequencing which revealed deletions in CDKN2A as well as PPP1R13B, which induces p53.
Agrawal, Sumit K, Barrett, John W, Boutros, Paul C, Chan-Seng-Yue, Michelle, Dowthwaite, Samuel A, Fung, Kevin, Harding, Nicholas J, Koropatnick, James, Lambin, Philippe, Macneil, S Danielle, Mymryk, Joe S, Nichols, Anthony C, Palma, David A, Starmans, Maud HW, Waggott, Daryl, Wehrli, Bret, Winquist, Eric, Yoo, John   +17 more
core   +3 more sources

Identification of Novel Genomic-Variant Patterns of OR56A5, OR52L1, and CTSD in Retinitis Pigmentosa Patients by Whole-Exome Sequencing [PDF]

, 2021
Ting‐Yi Lin, Y. Chang, Yu‐Jer Hsiao, Yueh Chien, Ying-Chun Jheng, Jing-Rong Wu, Lo‐Jei Ching, De‐Kuang Hwang, Chih‐Chien Hsu, Tai‐Chi Lin, Yu-Bai Chou, Yi-Ming Huang, Shih‐Jen Chen, Yi‐Ping Yang, Ping‐Hsing Tsai   +14 more
openalex   +1 more source

Integrated Transcriptomics Reveals Evolutionary Trajectories and Cell Density‐Dependent Mechanisms in Aldosterone‐Producing Adenomas

Advanced Science, EarlyView.
Aldosterone‐producing adenomas (APAs) develop via two distinct paths: directly from adrenal zona glomerulosa (zG) cells, or stepwise from zG cells through aldosterone‐producing micronodules (APMs) before progressing to APAs. Advanced single‐cell and spatial analyses identified distinct cell states linked to oxidative stress and cell–cell interactions ...
Zhuolun Sun, Changying Jing, Martina Tetti, Siyuan Gong, Jia Wei, Yingxian Pang, Martin Reincke, Tracy Ann Williams   +7 more
wiley   +1 more source

Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer. [PDF]

, 2013
We sequenced 11 germline exomes from five families with familial pancreatic cancer (FPC). One proband had a germline nonsense variant in ATM with somatic loss of the variant allele. Another proband had a nonsense variant in PALB2 with somatic loss of the
Al-Sukhni, Wigdan, Borgida, Ayelet E, Gallinger, Steven, Grant, Robert C, Holter, Spring, Kanji, Zaheer S, McPherson, John D, McPherson, Treasa, Peltekova, Vanya, Serra, Stefano, Stein, Lincoln D, Trinh, Quang M, Whelan, Emily   +12 more
core   +3 more sources

The Tumor‐to‐Endothelial Transfer of FTO Promotes Vascular Remodeling and Metastasis in Nasopharyngeal Carcinoma

Advanced Science, EarlyView.
Integrated omics analysis of matched primary and liver metastatic NPC tumors reveals a unique NOTCH1+ CSC subpopulation exhibiting enhanced stemness properties and tumorigenic capacity. With in vitro and in vivo assays, exosomal transfer of tumor‐derived FTO from NOTCH1+ cells to the endothelium promotes vascular permeability and metastatic potential ...
Chun Wu, Xuefei Liu, Liwen Gu, Jingru Lian, Yuting Wang, Yixin Cheng, Lianhui Duan, Guanyin Huang, Siqi Chen, Boxi Zhao, Sailan Liu, Yufan Yang, Shuqian Zheng, Zijian Lu, Wanping Guo, Jianyang Hu, Wenjing Wang, Zhixiang Zuo, Haiqiang Mai, LinQuan Tang, Songfa Zhang, Feiqiu Wen, Xin Hong, Ling Guo   +23 more
wiley   +1 more source

A community-based resource for automatic exome variant-calling and annotation in Mendelian disorders [PDF]

, 2014
BACKGROUND: Mendelian disorders are mostly caused by single mutations in the DNA sequence of a gene, leading to a phenotype with pathologic consequences.
Diego Carrella, Diego di Bernardo, Gennaro Oliva, Gopuraja Dharmalingam, Margherita Mutarelli, Rossella Rispoli, Veer Marwah   +6 more
core   +1 more source

PARPi Combining Nanoparticle LIN28B siRNA for the Management of Malignant Ascites

Advanced Science, EarlyView.
This study demonstrates that co‐inhibition of LIN28B and PARP using siLin28b/DSSP@lip‐PEG‐FA nanoparticles in combination with the PARP inhibitor BMN673 effectively suppresses the accumulation of malignant ascites associated with advanced cancers.
Yan Fang, Qian Shen, Yao Lin, Jing Zhu, Xiaolan Zhu, Rui Huang, Yijia Wu, Feiyang Shen, Qian Li, Guopei Zheng, Zhe Zhang, Qian Chu, Junhao Hu, Jianfeng Shen   +13 more
wiley   +1 more source

Approaches to informed consent for hypothesis-testing and hypothesis-generating clinical genomics research

BMC Medical Genomics, 2012
Background Massively-parallel sequencing (MPS) technologies create challenges for informed consent of research participants given the enormous scale of the data and the wide range of potential results.
Facio Flavia M, Sapp Julie C, Linn Amy, Biesecker Leslie G   +3 more
doaj   +1 more source

ISOWN: accurate somatic mutation identification in the absence of normal tissue controls. [PDF]

, 2017
BackgroundA key step in cancer genome analysis is the identification of somatic mutations in the tumor. This is typically done by comparing the genome of the tumor to the reference genome sequence derived from a normal tissue taken from the same donor ...
Bartlett, John MS, Kalatskaya, Irina, McPherson, John D, Spears, Melanie, Stein, Lincoln, Trinh, Quang M   +5 more
core   +1 more source

Targeting WEE1 in ARID1A/TP53 Concurrent Mutant Colorectal Cancer by Exploiting R‐Loop Accumulation and DNA Repair Deficiencies

Advanced Science, EarlyView.
ARID1A, a SWI/SNF complex component, is frequently mutated in colorectal cancer (CRC). CRC with ARID1A/TP53 concurrent mutations shows marked sensitivity to WEE1 inhibition. ARID1A loss induces R‐loop‐mediated replication stress, impairs ATF3 transcription, and amplifies WEE1i‐induced DNA damage, suggesting a promising therapeutic vulnerability ...
Chi Zhang, Yanjing Zhu, Luoyan Ai, Jingyuan Wang, Shan Yu, Yichen Wang, Xiaojing Xu, Mengling Liu, Yiyi Yu, Mengxuan Zhu, Yutong Liu, Zhenghang Xu, Haojie Zhou, Huishan Li, Qihong Huang, Qing Liu, Ke Peng, Tianshu Liu   +17 more
wiley   +1 more source