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    A phenotype-based AI pipeline outperforms human experts in differentially diagnosing rare diseases using EHRs by Xiaohao Mao, Yu Huang, Ye Jin, Lun Wang, Xuanzhong Chen, Honghong Liu, Xinglin Yang, Haopeng Xu, Xiaodong Luan, Ying Xiao, Siqin Feng, Jiahao Zhu, Xuegong Zhang, Rui Jiang, Shuyang Zhang, Ting Chen

    Published 2025-01-01
    “…In a human-computer study with 75 cases, PhenoBrain exhibited exceptional performance with a top-3 recall of 0.613 and a top-10 recall of 0.813, surpassing the performance of 50 specialist physicians and large language models like ChatGPT and GPT-4. Combining PhenoBrain’s predictions with specialists increased the top-3 recall to 0.768, demonstrating its potential to enhance diagnostic accuracy in clinical workflows.…”
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  7. 14487

    Prevalence of abnormal bone mineral density and its influencing factors among adult residents in Jiangsu province: a cross-sectional survey by Weihao WANG, Huijing HE, Yaoda HU, Xingming CHEN, Tan XU, Ji TU, Ang LI, Binbin LIN, Qihang LIU, Zhiming LU, Tianshu XI, Haibo HUANG, Da XU, Zhili CHEN, Zichao WANG, Guangliang SHAN

    Published 2024-11-01
    “…MethodsUsing stratified multistage cluster random sampling, we recruited 6 000 adult permanent residents (≥ 20 years old and living locally for at least 5 years) without disability or serious illness and, for women, not pregnant or breastfeeding, in urban and rural areas of Jiangsu province. …”
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  8. 14488

    Gestational diabetes induces autistic-like behaviors in offspring by disrupting the GABAergic system by Xuan-Qi Liu, Tian-li Huang, Shu-Yu Zhang, Yu-Tong Huang, Jia-Ying Mo, Yi-Shang Yan, Yi-Ning Cao, Yue-Ran Cai, Jian-Zhong Sheng, Hong Zhu, He Feng Huang

    Published 2025-02-01
    “…This reduction in GABA was associated with decreased GAD2 expression due to DNA hypermethylation in the GAD2 promoter region.ConclusionThese data suggest that GDM induces autistic-like behaviors, including reduced social novelty and increased stereotypic behaviors, in offspring by affecting the GABAergic system. …”
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  9. 14489

    Long-read sequencing revealed complex biallelic pentanucleotide repeat expansions in RFC1-related Parkinson’s disease by Peng Liu, Fan Zhang, Xinhui Chen, Xiaosheng Zheng, Miao Chen, Zhiru Lin, Shuqi Chen, Lebo Wang, Xinchen Wang, Nan Jin, Chenxin Ying, Fei Xie, Bo Wang, Sheng Wu, Zhidong Cen, Wei Luo

    Published 2025-01-01
    “…RNA foci were detected in the (AGGGG)exp-expressed HEK293T cell line as well as (AAGGG)exp and (ACAGG)exp, supporting (AGGGG)exp as a novel pathogenic repeat motif. …”
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    Single-Domain Antibody-Based TCR-Like CAR-T: A Potential Cancer Therapy by Lichen Zhu, Xiaomei Yang, Dani Zhong, Shenxia Xie, Wei Shi, Yangzi Li, Xiaoqiong Hou, HuaYao, Huihui Zhou, Minlong Zhao, Ziqiang Ding, Xinyue Zhao, Fengzhen Mo, Shihua Yin, Aiqun Liu, Xiaoling Lu

    Published 2020-01-01
    “…Retargeting the antigen-binding specificity of T cells to intracellular antigens that are degraded and presented on the tumor surface by engineering chimeric antigen receptor (CAR), also named TCR-like antibody CAR-T, remains limited. With the exception of the commercialized CD19 CAR-T for hematological malignancies and other CAR-T therapies aiming mostly at extracellular antigens achieving great success, the rareness and scarcity of TCR-like CAR-T therapies might be due to their current status and limitations. …”
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