Results 151 to 160 of about 213,884 (275)

Understanding the Patterns and Consequences of Single-Nucleotide Mutations in the Human Genome Using High-Throughput Sequencing. [PDF]

, 2013
Valerie M. Schaibley
openalex   +1 more source

KRAS mRNA Spleen‐Targeting Lipid Nanoparticles Synergize with Irinotecan Silicasomes to Robustly Augment the Cancer Immunity Cycle in Pancreatic Cancer

Advanced Science, EarlyView.
To overcome pancreatic cancer's immunosuppressive barriers, this study explores a dual approach: triggering immunogenic tumor cell death at the primary tumor site with irinotecan‐loaded silicasomes and enhancing immune activation in the spleen using LNPs encapsulating tumor antigen mRNA and a TLR7/8 agonist.
Lijia Luo, Xiang Wang, Yu‐Pei Liao, Andre E. Nel   +3 more
wiley   +1 more source

TP53 R249S mutation in hepatic organoids captures the predisposing cancer risk

Hepatology, EarlyView., 2022
The systematic approach in elucidating the gain‐of‐function (GOF) roles of TP53 mutations in early liver carcinogenesis. Unique downstream targets of TP53 L3 mutations were identified from chormatin immunoprecipitation sequencing in HCC cell lines, followed by a series of validation assays to substantiate the exclusive transcriptional regulations ...
Yin Kau Lam, Jianqing Yu, Hao Huang, Xiaofan Ding, Alissa M. Wong, Howard H. Leung, Anthony W. Chan, Kelvin K. Ng, Mingjing Xu, Xin Wang, Nathalie Wong   +10 more
wiley   +1 more source

Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in Korea

Orphanet Journal of Rare Diseases
Background Ectodermal dysplasia (ED) is a rare genetic disorder that affects structures derived from the ectodermal germ layer. Results In this study, we analyzed the genetic profiles of 27 Korean patients with ED.
Man Jin Kim, Jee-Soo Lee, Seung Won Chae, Sung Im Cho, Jangsup Moon, Jung Min Ko, Jong-Hee Chae, Moon-Woo Seong   +7 more
doaj   +1 more source

High-Throughput Sequencing of IL23R Reveals a Low-Frequency, Nonsynonymous Single-Nucleotide Polymorphism That Is Associated With Ankylosing Spondylitis in a Han Chinese Population (vol 65, pg 1747, 2013) [PDF]

, 2013
Marina Donskoi
openalex  

Phenylalanine‐Based DNA‐Encoded Chemical Libraries for the Discovery of Potent and Selective Small Organic Ligands Against Markers of Cancer and Immune Cells

Advanced Science, EarlyView.
FM‐DEL1 and FM‐DEL2 are constructed by installing one or two sets of building blocks on a phenylalanine central scaffold. FM‐DELs are screened against markers of prostate, and renal cell carcinoma, and against an immunological target expressed on the surface of natural killer cells.
Francesca Migliorini, Andrea Ciamarone, Sheila Dakhel Plaza, Tony Georgiev, Marta Mascellani, Emanuela Sabato, Giulio Vistoli, Ilaria Biancofiore, Nicholas Favalli, Emanuele Puca, Sebastian Oehler, Dario Neri, Samuele Cazzamalli   +12 more
wiley   +1 more source

Next Generation Sequencing Uncovers a Rare Case of X-linked Ichthyosis in an Adopted Girl Homozygous for a Novel Nonsense Mutation in the STS Gene

Acta Dermato-Venereologica, 2019
Andrea Diociaiuti, Adriano Angioni, Elisa Pisaneschi, Maria Margollicci, Renata Boldrini, Viola Alesi, Antonio Novelli, Giovanna Zambruno, May El Hachem   +8 more
doaj   +1 more source

ASO Therapy Targeting STAU2 to Inhibit Pancreatic Ductal Adenocarcinoma Progression and Metastasis by Regulating the PALLD‐Mediated EMT Signaling Pathway

Advanced Science, EarlyView.
This study identifies STAU2 as an oncogenic RNA‐binding protein (RBP) with elevated expression in pancreatic ductal adenocarcinoma (PDAC), where its high levels are significantly correlated with metastatic progression. It elucidates that STAU2 directly binds and regulates PALLD, while mediating the functional role of IQGAP1, thereby driving metastasis ...
Jiayu Ding, Hao Shen, Jiaying Ji, Jiaxing Li, Zhongrui Shi, Xuejiao Wang, Bangbang Li, Yi Hou, Wenjian Min, Chengliang Sun, Kai Yuan, Yasheng Zhu, Liping Wang, Shun‐Qing Liang, Wenbin Kuang, Xiao Wang, Peng Yang   +16 more
wiley   +1 more source

Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Artificial intelligence (AI) is rapidly transforming numerous aspects of daily life, including clinical practice and biomedical research. In light of this rapid transformation, and in the context of medical genetics, we assembled a group of leaders in the field to respond to the question about how AI is affecting, and especially how AI will ...
Benjamin D. Solomon, Morgan Cheatham, Thales A. C. de Guimarães, Dat Duong, Melissa A. Haendel, Tzung‐Chien Hsieh, Behnam Javanmardi, Britt Johnson, Peter Krawitz, Paul Kruszka, Tim Laurent, Ni‐Chung Lee, Kirsty McWalter, Michel Michaelides, Klaus Mohnike, Nikolas Pontikos, Maria J. Guillen Sacoto, Yousif J. Shwetar, Vincent D. Ustach, Rebekah L. Waikel, William Woof   +20 more
wiley   +1 more source

Establishment of a humanized SCA2 mouse model carrying a CAA disruption preventing CAG repeat expansion in pathogenic genes

Animal Models and Experimental Medicine, EarlyView.
In this study, we established a mouse model in which CAG repeats do not undergo microsatellite instability (MSI) across generations. A humanized ATXN2 cDNA with four CAA interruptions within 73 CAG expansions was inserted into the Rosa26 locus of C57BL/6J mice. At the same time, a 23 CAG control mouse model was also generated.
Yao Zhang, Yufei Li, Lin Zhang, Zhaoqing Li, Keqin Lin, Kai Huang, Zhaoqing Yang, Shaohui Ma, Hao Sun, Xiaochao Zhang   +9 more
wiley   +1 more source