Results 81 to 90 of about 22,114 (247)

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

Oral Celastrol Nanomedicine Targeting Intestinal Antigen‐Presenting Cells to Effectively Mitigate Autoimmune Uveitis via Gut‐Retina Axis

Advanced Science, EarlyView.
Oral nanoCEL exhibits effective intestinal targeting of antigen‐presenting cells and restores the Th17/Treg balance in lymph nodes and spleen, ultimately protecting the blood‐retinal barrier by inhibiting peripheral immune cell infiltration and suppressing retinal glial cell activation.
Jinrun Chen, Yuqin Wu, Bofei Xu, Jiabei Hou, Yijing Li, Yuhan Hu, Yutuo Zhu, Wenqiao Zhang, Shuqi Feng, Huanting Jin, Yuchen Cheng, Yuanyuan Jin, Jianhong Zhou, Xingyi Li   +13 more
wiley   +1 more source

NPHP proteins are binding partners of nucleoporins at the base of the primary cilium.

PLoS ONE, 2019
Cilia are microtubule-based organelles that protrude from the surface of eukaryotic cells to generate motility and to sense and respond to environmental cues.
T Lynne Blasius, Daisuke Takao, Kristen J Verhey   +2 more
doaj   +1 more source

Dendritic Nano‐Based Slippery Coating by Synergistic Mechanical and Electrostatic Interactions with Persistent and Exceptional Combats Thrombosis

Advanced Science, EarlyView.
A novel dendritic nano‐based slippery coating (DNSC), fabricated by encapsulating carboxyl silicone oil within amino dendritic silica nanoparticles and co‐embedding them in an epoxy resin matrix. The dendritic architecture enhances nanoparticle dispersion in the matrix and establishes mechanical interlock.
Shu Zhang, Yao Shen, Juan Liu, Qing Zeng, Yunze Ma, Shuping Chen, Taiyu Nan, Xiaoying Qiu, Jiayi Yu, Tao Fan, Guozhi Huang, Jihua Zou, Chengduan Yang   +12 more
wiley   +1 more source

Kinesin‐Induced Buckling Reveals the Limits of Microtubule Self‐Repair

Advanced Science, EarlyView.
This study shows that kinesin‐driven buckling induces extensive microtubule lattice damage that often exceeds intrinsic self‐repair and leads to filament failure. While curvature, motor motility, and force individually cause limited damage, their combination overwhelms repair.
Shweta Nandakumar, Jonas Bosche, Mirko Wieczorek, Constantin Matteo Albrecht, Belinda König, Mona Grünewald, Ludger Santen, Stefan Diez, Reza Shaebani, Laura Schaedel   +9 more
wiley   +1 more source

Therapeutic Gases in Biomedicine: Updates on Nitric Oxide and Beyond

Advanced Science, EarlyView.
Therapeutic gases, including NO, CO, H2S, H2, CO2, O2, and Xe, play vital roles in cellular signaling and repair. This review highlights the emerging carriers and delivery systems that enable controlled, localized gas release for diagnostic and therapeutic applications.
Syed Muntazir Andrabi, Navatha Shree Sharma, Imran Ibn Gani Rather, S. M. Shatil Shahriar, Jingwei Xie   +4 more
wiley   +1 more source

GHRHR Deficiency Enhances Retinal Ganglion Cell Survival and Visual Functions in Experimental Glaucoma by Inhibiting Ferroptosis

Advanced Science, EarlyView.
Glaucoma, a major cause of blindness, involves retinal ganglion cell (RGC) degeneration. This study shows growth hormone‐releasing hormone receptor (GHRHR) deficiency preserves RGC survival and restores vision, unlike activation which only aids survival.
Yan Tong, Ming Ho Yam, Jiaxin Zhang, Lin Du, Linbin Zhou, Yolanda Wong Ying Yip, Bo Man Ho, Hemlata Bisnauthsing, Jiahui Li, Ivan Kong, Shushu Xu, Changzhen Fu, Karl K.H. So, Joaquim S.L. Vong, Ling‐Ping Cen, Ming‐Ming Yang, Khazeema Yousaf, Mai Har Sham, Sun On Chan, Poemen P. Chan, Chi Pui Pang, Clement C. Tham, Jing Na He, Jian Li, Wai Kit Chu   +24 more
wiley   +1 more source

Tracking of [14C]Polystyrene Nanoplastics in Pregnant Mice

Advanced Science, EarlyView.
This study investigates [14C]polystyrene nanoplastic ([14C]PS) translocation in late‐stage pregnant mice after intranasal (0.5 mg of [14C]PS on GD12, GD14, and GD16, n = 6) and intravenous administration (1.5 mg of [14C]PS on GD16, n = 6). 14C‐radiolabel allows quantitative tracking of unmodified polystyrene nanoplastics.
Olga Khaybullina, Pallavi Sarkhel, Outi M. Keinänen   +2 more
wiley   +1 more source

The Role of Sperm Centrioles in Human Reproduction – The Known and the Unknown

Frontiers in Cell and Developmental Biology, 2019
Each human spermatozoon contains two remodeled centrioles that it contributes to the zygote. There, the centrioles reconstitute a centrosome that assembles the sperm aster and participate in pronuclei migration and cleavage. Thus, centriole abnormalities
Tomer Avidor-Reiss, Tomer Avidor-Reiss, Matthew Mazur, Matthew Mazur, Emily L. Fishman, Puneet Sindhwani, Puneet Sindhwani   +6 more
doaj   +1 more source

Deciphering the Impact of RAC1‐SPTAN1 in ARPKD Cystogenesis Using Multifaceted Models

Advanced Science, EarlyView.
Distal/connecting tubules expressing SLC8A1 have been suggested as a potential origin of ARPKD cysts. SPTAN1 has been identified as a key molecule in ARPKD cyst formation. Restoring SPTAN1 in PKHD1−/− organoids reduced cyst formation, normalized calcium levels, and decreased RAC1/c‐FOS expression, highlighting SPTAN1's role in ARPKD and the potential ...
Shohei Kuraoka, Yuhei Higashi, Suguru Saito, Solmaz Pourgonabadi, Honami Honjoh, Sho Ishigaki, Peter C. Harris, Lisa M. Satlin, Michifumi Yamashita, Ryuji Morizane   +9 more
wiley   +1 more source