Results 101 to 110 of about 199,308 (309)

Chromosomal mosaicism goes global

Molecular Cytogenetics, 2008
Intercellular differences of chromosomal content in the same individual are defined as chromosomal mosaicism (alias intercellular or somatic genomic variations or, in a number of publications, mosaic aneuploidy).
Yurov Yuri B, Vorsanova Svetlana G, Iourov Ivan Y   +2 more
doaj   +1 more source

Sensing and Reprogramming Surface Receptor Activation With Synthetic Transcriptional Circuits

Advanced Science, EarlyView.
A synthetic receptor‐signalling induced transcription (RESIT) circuit is designed based on receptor activation mediated split protease complementation and release of membrane‐tethered synthetic transcriptional modules. The RESIT system enables probing Ca2+ entry, receptor tyrosine kinase (RTK) activities and Ras activation, and reprogramming RTK ...
Fei Liu, Mei Yuan, Li‐Juan Tang, Fenglin Wang, Xia Chu, Jian‐Hui Jiang   +5 more
wiley   +1 more source

Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing

Scientific Reports
While de novo variants (DNV) are overall at low risk of recurrence in subsequent pregnancies, a subset is at high risk due to parental mosaicism. Accurately identifying cases of parental mosaicism is therefore important for genetic counseling in clinical
François Lecoquierre, Kévin Cassinari, Nathalie Drouot, Angèle May, Steeve Fourneaux, Francoise Charbonnier, Celine Derambure, Sophie Coutant, Pascale Saugier-Veber, Alexander Hoischen, Camille Charbonnier, Gaël Nicolas   +11 more
doaj   +1 more source

Bioinspired Microphase‐Engineered Binders for Silicon Anodes

Advanced Science, EarlyView.
Inspired by the tough exoskeleton of Phloeodes diabolicus, a bio‐based binder featuring LRA–click chemistry and hierarchical crosslinking forms well‐defined microphase‐separated structures that enable robust silicon anodes. This system promotes the formation of a LiF–rich, ultrathin SEI (∼17 nm) with high modulus and ionic conductivity, ensuring long ...
Lirong Tang, Lan Zhao, Zhiyi Cao, Fengcai Lin, Biao Huang, Haijun Li, Lingling Qian, Yingshan Shi, Yaohang Weng, Xuan Yang, Hanyang Liu, Beili Lu, Jianhua Lv, Xinda You, Jiayu Tao, Zhenwei Wu   +15 more
wiley   +1 more source

PIK3CA Mutations Downregulate PPT1 to Promote Adipogenesis by Suppressing P300 Depalmitoylation and Phase Separation

Advanced Science, EarlyView.
This study demonstrates that somatic PIK3CA mutations suppress PPT1 expression via activation of the PI3K–AKT–c‐JUN axis. This reduction in PPT1 weakens its interaction with P300, thereby increasing palmitoylation at C1176 of P300 and protecting P300 from lysosomal degradation.
Hongrui Chen, Zening Huang, Rui Chang, Wei Gao, Yajing Qiu, Bin Sun, Chen Hua, Xiaoxi Lin   +7 more
wiley   +1 more source

A rare case of uniparental disomy 9 concomitant with low-level mosaicism

Вавиловский журнал генетики и селекции
Uniparental disomy of chromosome 9, in combination with low-level mosaicism for chromosome 9, represents a rare chromosomal disorder. One of the mechanisms underlying the formation of uniparental disomy is the trisomy rescue, which concurrently results ...
A. S. Iakovleva, Zh. G. Markova, L. A. Bessonova, N. V. Shilova   +3 more
doaj   +1 more source

Dorsal Raphe VIP Neurons Are Critical for Survival‐Oriented Vigilance

Advanced Science, EarlyView.
DRNVIP neurons in mice and primates are strategically positioned to influence the central extended amygdala via feedback loops. They regulate the excitability of PKC‐δ neurons in the ovBNST and CeA through glutamate release. Their ablation heightens activity in these regions, disrupts active‐phase sleep architecture, enhances risk assessment behaviors ...
Adriane Guillaumin, Emma Perrot, Thibault Dhellemmes, Laura Boi, Daniel De Castro Medeiros, Christelle Glangetas, Sylvie Dumas, Sandra Dovero, Nathalie Biendon, Elodie Ladeveze, Maëlle Hardel, Marc Landry, Erwan Bezard, Jérôme Baufreton, Gilberto Fisone, François Georges   +15 more
wiley   +1 more source

Circular Potential of Lithium‐Ion Battery Recycling Slags: Quantifying Microstructure and Elemental Distribution for a Holistic Valorization

Advanced Science, EarlyView.
A lithium‐bearing slag is investigated with the goal of holistic valorization. The present β‐eucryptite (LiAlSiO4) exhibits a high lithium content and low levels of impurities. The spinel contains most of the chromium and vanadium, representing additional valorization opportunities.
Peter Cornelius Gantz, Charlize Alexia Senkyr, Rüdiger Kilian, Andreas Neumann, Maximilian Korges, Daniel A. Frick, Hans Roggendorf, Ralf Wehrspohn, Stefan Stöber, Christiane Stephan‐Scherb   +9 more
wiley   +1 more source

Case report: Deep sequencing and long-read genome sequencing refine prior genetic analyses in families with apparent gonadal mosaicism in PIK3CD-related activated PI3K delta syndrome

Frontiers in Immunology
Gonadal and gonosomal mosaicism describe phenomena in which a seemingly healthy individual carries a genetic variant in a subset of their gonadal tissue or gonadal and somatic tissue(s), respectively, with risk of transmitting the variant to their ...
Halyn Orellana, Jia Yan, Alex Paul, Mari Tokita, Yan Ding, Rajarshi Ghosh, Katie L. Lewis, Joie Davis, Leila Jamal, Colleen Jodarski, Morgan Similuk, Nermina Saucier, Zhanyang Zhu, Yihe Wang, Sitao Wu, Jason Ruggieri, NIAID Centralized Sequencing Program Working Group, Helen C. Su, Gulbu Uzel, Shareef Nahas, Megan Cooper, Magdalena A. Walkiewicz, Bryce A. Seifert, Nadjalisse Reynolds-Lallement, Rachel Gore Moses, Michael Gore Moses, Sarah Bannon, Sophie Byers, Ekaterina Damskey, Sruthi Srinivasan, Adrienne Borges, Nicole Gentile   +31 more
doaj   +1 more source

Emerging Advanced Electronic Packaging Materials for Thermal Management in Power Electronics

Advanced Science, EarlyView.
This review surveys emerging materials for thermal management in advanced electronic packaging, with emphasis on ceramic substrates and thermal interface materials. Multiscale simulations and mechanistic analyses are highlighted, alongside the emerging role of artificial intelligence in predicting thermal properties and guiding design, offering ...
Yongjun Huo, Jiaqi Song, Wenqian Li, Jian Zhang, Yujin Zhang, Yang Fu, Wangchao Yuan, Xin Chen, Sichen Liu, Miao Jiang, Yuan Cheng, Gang Zhang   +11 more
wiley   +1 more source