Results 91 to 100 of about 45,554 (278)

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

Cortical Somatostatin Neurons Regulate Seizure Susceptibility via MINAR1/Gαs–cAMP Signaling

Advanced Science, EarlyView.
Our study identifies MINAR1 as a novel regulator of cortical interneuron excitability and seizure susceptibility. MINAR1 is preferentially expressed in SST+ interneurons. Genetic ablation of MINAR1 leads to seizure hypersensitivity, reduced SST+ neuron excitability, and impaired Gαs–cAMP signaling, disrupting the E/I balance.
Wei‐Tang Liu, Zhi‐Bin Hu, Ling Hu, Yu‐Bing Wang, Qiong Zhang, Ning‐Ning Song, Xi‐Yue Liu, Jia‐Yin Chen, Hong‐Wen Zhu, Bing‐Yao Zhou, Yun‐Chao Tao, Li Zhao, Ze‐Xuan Li, Yi‐Wei Li, Jia‐Qi Chen, Si‐Xin Tu, Cong‐Cong Qi, Sai‐Dan Ding, Gang Peng, Lin Xu, Yu‐Qiang Ding   +20 more
wiley   +1 more source

Asymmetric Cu─N─Ru Bridgedsite Nanozyme‐Loaded Injectable Thermogel Boosts Cuproptosis‐Like Death for Multidrug‐Resistant Urinary Tract Infections

Advanced Science, EarlyView.
To address multidrug‐resistant urinary tract infections (MDR‐UTIs), we developed Cu‐ZIF8‐Ru nanozyme featuring an asymmetric Cu─N─Ru catalytic site. This unique structure enhances multienzyme‐mimetic activity, eradicating resistant bacteria by inducing a cuproptosis‐like death pathway through intracellular Cu2+ accumulation and energy depletion.
Guanlin Li, Shike Zhang, Jinggong Liu, Xin Wang, Heng Wang, Hongcan Yang, Yuhao Zhou, Wen Liu, Hongxing Liu, Wenqi Wu   +9 more
wiley   +1 more source

Intellectual disorder type 98 caused by a novel NEXMIF variant: a case report and literature review

Frontiers in Medicine
BackgroundIntellectual disorder, Type 98 (ID 98) is an X-linked disorder characterized by intellectual disability, epilepsy, and multisystem manifestations.
Yuanhang Zhu, Fangying Cui, Xuezhe Ouyang, Jing Guo, Yaming Liu, Naiqi Li, Qian Yang, Yali Li, Ling Liu   +8 more
doaj   +1 more source

Nanozymes for Liver Disease Therapy: Advances in Catalytic Activity, Targeting Strategies, and Clinical Translation

Advanced Science, EarlyView.
Nanozymes, as enzyme‐mimicking nanomaterials, exhibit unique catalytic properties for the treatment of liver diseases. By regulating redox homeostasis, modulating immune responses, and enabling targeted delivery, nanozymes overcome the limitations of natural enzymes.
Xiandi Meng, Ge Zhu, Siyu Sun, Wenbo Yao, Yuning Zhang, Yong‐Guang Yang, Tianmeng Sun   +6 more
wiley   +1 more source

ChatCFD: A Large Language Model‐Driven Agent for End‐to‐End Computational Fluid Dynamics Automation with Structured Knowledge and Reasoning

Advanced Intelligent Discovery, EarlyView.
Chat computational fluid dynamics (CFD) introduces an large language model (LLM)‐driven agent that automates OpenFOAM simulations end‐to‐end, attaining 82.1% execution success and 68.12% physical fidelity across 315 benchmarks—far surpassing prior systems.
E Fan, Kang Hu, Zhuowen Wu, Jiangyang Ge, Jiawei Miao, Yuzhi Zhang, He Sun, Weizong Wang, Tianhan Zhang   +8 more
wiley   +1 more source

c.7156C > T p.(Gln2386*) variant causes loss-of-function of the USP9X gene in a female-restricted X-linked syndromic intellectual disability: a case report

Journal of Medical Case Reports
Background Female-restricted X-linked syndromic intellectual developmental disorder-99 is an ultrarare neurodevelopmental disorder linked to X, manifesting in female individuals due to mutations in the USP9X gene.
Talyta Alves da Silva Campos, Alex Honda Bernardes, Irene Plaza Pinto, Hiane Aparecida da Silva Teixeira, Juliana Ferreira da Silva, Victor Cortázio do Prado Santos, Raffael Zatarin, Aparecido Divino da Cruz   +7 more
doaj   +1 more source

Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82)

Frontiers in Genetics, 2019
X-linked intellectual disability (XLID) is known to explain up to 10% of the intellectual disability in males. A large number of families in which intellectual disability is the only clinically consistent manifestation have been described.
María Isabel Tejada, María Isabel Tejada, María Isabel Tejada, Olatz Villate, Olatz Villate, Olatz Villate, Nekane Ibarluzea, Nekane Ibarluzea, Ana Belén de la Hoz, Ana Belén de la Hoz, Cristina Martínez-Bouzas, Cristina Martínez-Bouzas, Cristina Martínez-Bouzas, Elena Beristain, Francisco Martínez, Michael J. Friez, Beatriz Sobrino, Beatriz Sobrino, Francisco Barros, Francisco Barros   +19 more
doaj   +1 more source

Participation for mental health service development in China: Conditions, challenges, facilitators, and outcomes

American Journal of Community Psychology, EarlyView.
Abstract This study analyzes a participatory project to develop peer support services for people with serious mental illnesses (SMIs) in China. Drawing on interviews with psychiatrists, social workers, service users, and a family caregiver, it examines the conditions, challenges, facilitators, and outcomes of participation in a paternalistic context ...
Zhiying Ma, Yu Fan, Xiyuan Chen, Lindsay Sheehan, Sang Qin, Aoxuan Cao, Liang Zhou   +6 more
wiley   +1 more source

Identification of a Novel Frameshift variant of the ATRX gene: a Case Report and Review of the genotype–phenotype relationship

BMC Pediatrics
Background X-linked intellectual disability-hypotonic facies syndrome-1 (MRXHF1) and Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome are caused by pathogenic variant in the ATRX gene, a member of the switch/sucrose non-fermentable ...
Yishan Wang, Qizhou Ma, Jing Chen, Shaoxin Li, Feifei Zheng, Lei Shi, Xiaoshun Li, Sinan Li, Guanglei Tong, Hong Li   +9 more
doaj   +1 more source