Results 51 to 60 of about 35,273 (228)

Genetic Diagnosis and Discovery Enabled by Large Language Models

Advanced Science, EarlyView.
We demonstrate that large language models (LLMs) can facilitate genetic diagnosis and discovery. LLMs were used to solve four types of genetic problems of sequentially increased complexity. An LLM‐based pipeline could analyze genetic variants in the genomic sequences of human hearing loss or rare genetic disease patients and assist in identifying ...
Tao Tu, Khaled Saab, Weida Liu, Zhouqing Fang, Zhuanfen Cheng, Svetolik Spasic, Maja Djurisic, Hiroaki Mohri, Wenlong Ren, Anil Palepu, Juraj Gottweis, Alan Karthikesalingam, Kavita Kulkarni, Annalisa Pawlosky, Devon Bonner, Elijah Kravets, Shruti Marwaha, Hector R. Mendez, Matthew T. Wheeler, Jonathan A. Bernstein, Undiagnosed Diseases Network, Cheng‐Yu Tsai, Chen‐Chi Wu, Konstantina M. Stankovic, Vivek Natarajan, Gary Peltz   +25 more
wiley   +1 more source

RIPK3 Orchestrates Scar‐Associated Macrophage Dysfunction to Drive Pulmonary Fibrosis

Advanced Science, EarlyView.
Beyond signaling cell death, RIPK3 emerges as a critical metabolic regulator in pulmonary fibrosis. This research reveals that RIPK3 promotes PI3K‐AKT signaling in scar‐associated macrophages to fuel polyamine synthesis, independent of its kinase activity.
Tao Yang, Xiao Li, Shuyue Lei, Qingqing Li, Yi Zhang, Zhizhen Hui, Jinjin Ren, Xuelian Yang, Xiaoqian Yang, Chunlan Feng, Yousheng Xu, Dongxin Zhao, Wei Tang   +12 more
wiley   +1 more source

Growth regulatory effects of cyclic AMP and polyamine depletion are dissociable in cultured mouse lymphoma cells. [PDF]

, 1983
Treatment of mouse lymphoma S49 cells with D,L-alpha-difluoromethylornithine (DFMO), an inhibitor of ornithine decarboxylase, depleted cellular polyamine levels and stopped cell growth. The cells were arrested predominantly in G1.
Coffino, P, Marton, LJ, McConlogue, LC
core  

Small‐for‐size liver transplanted into larger recipient: A model of hepatic regeneration [PDF]

, 1994
Orthotopic liver transplantation was performed in 60 recipient rats weighing 200 to 250 gm. Sixty rats of the same strain were used as liver donors, 30 weighing 100 to 140 gm (small for size) and the other 30 weighing 200 to 250 gm (same size).
Carr, BI, Francavilla, A, Polimeno, L, Porter, KA, Starzl, TE, Sun, D, van Thiel, DH, Zeng, Q   +7 more
core   +1 more source

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

A role for antizyme inhibitor in cell proliferation [PDF]

, 2015
Acknowledgments We thank Ewa Dahlberg and Lena Thiman for expert technical help with cell culturing and HPLC, respectively. The authors acknowledge financial support from the Portuguese Foundation for Science and Technology—SFRH/BD/46364/2008 (PhD ...
Cirenajwis, Helena, Oredsson, Stina, Persson, Lo, Silva, Tania M, Wallace, Heather M.   +4 more
core   +1 more source

Human Decidual Mesenchymal Stem Cells Obtained From Early Pregnancy Improve Cardiac Revascularization Postinfarction by Activating Ornithine Metabolism

Frontiers in Cardiovascular Medicine, 2022
BackgroundCompared with bone marrow mesenchymal stem cells (BMSCs), decidual mesenchymal stem cells (DMSCs) are easy to obtain and exhibit excellent angiogenic effects, but their role in cell transplantation after myocardial infarction (MI) remains ...
Kegong Chen, Kegong Chen, Kegong Chen, Long Bai, Long Bai, Long Bai, Jingtong Lu, Jingtong Lu, Jingtong Lu, Wei Chen, Wei Chen, Chang Liu, Erliang Guo, Erliang Guo, Erliang Guo, Xionghai Qin, Xionghai Qin, Xuan Jiao, Xuan Jiao, Mingli Huang, Mingli Huang, Hai Tian, Hai Tian   +22 more
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

EnzRetro: Enzymatic Retrosynthetic Planning With Site‐Specific Reaction Edits Based on Sequence Generative Architecture

Exploration, EarlyView.
EnzRetro bridges retrosynthesis planning and enzymatic engineering through site‐specific reaction edits. This end‐to‐end framework integrates pathway synthesis and enzyme identification into a unified process, achieving superior accuracy and enabling the efficient reconstruction of diverse biosynthetic pathways.
Yahui Cao, Haoshu Chen, Tao Zhang, Xin Zhao, Bingzhi Li, Xiangrui Zheng   +5 more
wiley   +1 more source

Identification of Trypanosoma cruzi Polyamine Transport Inhibitors by Computational Drug Repurposing [PDF]

, 2019
Trypanosoma cruzi is the causative agent of Chagas disease, a parasitic infection endemic in Latin America. In T. cruzi the transport of polyamines is essential because this organism is unable to synthesize these compounds de novo.
Martínez Sayé, Melisa Soledad, Miranda, Mariana Reneé, Pereira, Claudio Alejandro, Phanstiel, Otto, Reigada, Chantal, Valera Vera, Edward Augusto   +5 more
core   +1 more source