Results 101 to 110 of about 73,091 (260)

This is not Lynch syndrome: lessons from misattributed diagnoses in constitutional mismatch repair deficiency

ESMO Gastrointestinal Oncology
Background: Underdiagnosis of constitutional mismatch repair deficiency (CMMRD) syndrome leads to suboptimal cancer surveillance and management of CMMRD patients.
A.H. Mohammad, E. Rohr, A. Moise, R.M. Abdulsalam, W. Davalan, A. Rizzolo, A.S. Liberman, C. Goudie, L. Palma, W.D. Foulkes   +9 more
doaj   +1 more source

A Phosphorylation‐Induced Micellization Switch in the Low‐Complexity Domain of TDP‐43

Advanced Science, EarlyView.
Phosphorylation of TAR DNA‐binding protein's 43 kDa (TDP‐43) low‐complexity domain by casein kinase 1 delta (CK1δ) acts as a molecular switch, redirecting its self‐assembly from macroscopic phase separation toward finite‐sized, spherical block‐copolymer micelles of ∼30 nm.
Rodrigo F. Dillenburg, Anastasia Lopatina, Hao Ruan, Tom Scheidt, Simone Mosna, Emre Pekbilir, Julia Bieber, Frank Schäfer‐Depoix, Katharina Landfester, Carla Schmidt, Martin M. Möckel, Svenja Morsbach, Friederike Schmid, Dorothee Dormann, Lukas Stelzl, Martin Girard, Edward A. Lemke   +16 more
wiley   +1 more source

European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender

BJS (British Journal of Surgery), EarlyView., 2020
Recommendations for clinical and molecular identification of LS, surgical and endoscopic management of LS‐associated colorectal cancer and preventive measures for cancer were produced. The emphasis was on surgical and gastroenterological aspects of the cancer spectrum.
T. T. Seppälä, A. Latchford, I. Negoi, A. Sampaio Soares, R. Jimenez‐Rodriguez, L. Sánchez‐Guillén, D. G. Evans, N. Ryan, E. J. Crosbie, M. Dominguez‐Valentin, J. Burn, M. Kloor, M. von Knebel Doeberitz, F. J. B. van Duijnhoven, P. Quirke, J. R. Sampson, P. Møller, G. Möslein, on behalf of the European Hereditary Tumour Group (EHTG) and European Society of Coloproctology (ESCP)   +18 more
wiley   +1 more source

A Comparative Study of Methyl-BEAMing and Droplet Digital PCR for MGMT Gene Promoter Hypermethylation Detection

Diagnostics
Background: O-6-methylguanine-DNA methyltransferase is responsible for the direct repair of O6-methylguanine lesions induced by alkylating agents, including temozolomide.
Marco Macagno, Valeria Pessei, Noemi Congiusta, Luca Lazzari, Sara Erika Bellomo, Fariha Idrees, Alessandro Cavaliere, Filippo Pietrantonio, Alessandra Raimondi, Eleonora Gusmaroli, Maria Giulia Zampino, Lorenzo Gervaso, Davide Ciardiello, Giuseppe Mondello, Armando Santoro, Nicola Personeni, Emanuela Bonoldi, Maria Costanza Aquilano, Emanuele Valtorta, Salvatore Siena, Andrea Sartore-Bianchi, Alessio Amatu, Erica Francesca Bonazzina, Katia Bruna Bencardino, Guido Serini, Silvia Marsoni, Ludovic Barault, Federica Di Nicolantonio, Federica Maione   +28 more
doaj   +1 more source

Therapeutic Gene Editing of APOE4 in Sporadic Alzheimer's Disease via Prime Editor 7

Advanced Science, EarlyView.
Prime Editor 7‐mediated conversion of APOE4 to APOE3 alleviates Alzheimer's disease‐associated pathology in AD mouse models and patient‐derived neurons and improves cognitive performance in vivo, supporting therapeutic genome editing as a promising strategy for APOE4‐associated neurodegeneration.
Yunkyung Kim, Gaeun Lee, Saemin An, Hanseul Park, Hongwon Kim, Jisung Kim, Soi Kang, Sumin Kim, Daeyeol Kwon, Jeonghyun Park, Yerim Hwang, Seonghun Kim, Xiuwen Yuan, Jaehoon Jeong, Hamin Lee, Hui Kwon Kim, Jongpil Kim   +16 more
wiley   +1 more source

Computation and Structure‐Guided Arginine Scanning Engineers a Hyperactive AP Endonuclease for Multiplex Viral RNA Sensing

Advanced Science, EarlyView.
Computational and structure‐guided arginine scanning rewires the DNA‐binding interface of APE1 to create APE1‐Evo, a hyperactive yet specific AP endonuclease. Integrated into the NAPTUNE‐V2.0 cascade, APE1‐Evo enables amplification‐free, multiplex viral RNA sensing for dengue virus and influenza A/B, highlighting a general strategy for engineering ...
Junlan Wang, Ting Wu, Feizuo Wang, Boyang Wang, Xin Yu Wong, Senfeng Zhang, Shengsheng Ma, Yao Liu, Fangyao Yao, Zhifeng Zeng, Siyuan Yang, Kunming Liu, Qi Wang, Yilong Wang, Yunxiang Zang, Xiaolong Wang, Xingxu Huang, Shao Li, Quanquan Ji, Tao Hu, Chunyi Hu   +20 more
wiley   +1 more source

SnapShot: DNA Mismatch Repair

Cell, 2010
Larrea, Andres A., Lujan, Scott A., Kunkel, Thomas A.   +2 more
openaire   +2 more sources

Stochastic Entanglement of Deterministic Origami Tentacles For Robust Robotic Grasping

Advanced Science, EarlyView.
This study introduces an origami tentacle gripper to robustly grasp objects‐in air, underwater, and even in orbital space‐by exploiting a synergy between local, deterministic deformation programming and global, stochastic entanglements. A single origami tentacle can be designed to coil with a simple tendon pull.
Alec Boron, Bokun Zheng, Ziyang Zhou, Noel Naughton, Suyi Li   +4 more
wiley   +1 more source

Synergistic p53 Pathway Activation Through Sono‐Gene Therapy Induced by Ultrasound‐Triggered Theranostic Mesoporous Nanoparticles

Advanced Science, EarlyView.
Schematic representation of ultrasound‐mediated ICG/siCD24@MSN‐LCD from nanostructure to synergistic sono‐gene therapy. This nanoplatform targets ASGPR via the LCD shell, which dissociates to release loaded ICG and siCD24. The core mechanism involves ultrasound‐guided sonodynamic therapy by ICG and CD24 knockdown by siCD24, both activating the p53 axis
Yading Zhao, Lu Guo, Dandan Shi, Xiao Sun, Mengmeng Shang, Song Ning, Shuting Huang, Xiaoxuan Wang, Rui Liu, Yuye Fu, Suyun Li, Jie Li   +11 more
wiley   +1 more source

Gestational Hypoxia Disrupts Medial Ganglionic Eminence Progenitor Dynamics and Interneuron Development in Schizophrenia

Advanced Science, EarlyView.
FES‐derived MGE spheroids exhibit progenitor‐stage alterations in developmental trajectory and hypoxia‐responsive transcriptional programs, followed by functional disruption. Gestational hypoxia recapitulates impaired progenitor proliferation, shortened cell‐cycle progression, interneuron developmental abnormalities, and schizophrenia‐like behaviors in
Peiyan Ni, Qiancheng Zhang, Youhui Jiang, Huiying Yao, Chuqing Zhou, Xiaoyi Tian, Shiyingnan Gao, Jun Zhao, Xinyi Ren, Naxin Xu, Mengshan Fu, Liansheng Zhao, Xueyu Qi, Xueli Yu, Wanjun Guo, Sangmi Chung, Fan Guo, Tao Li   +17 more
wiley   +1 more source