A Novel Heterozygous IHH c.331_333del Mutation Identified in a Fetus with Brachydactyly Type A1 Causes IHH Protein Maturation Failure in HEK293T Cells [0.03%]
在具有并指类型A1的胎儿中鉴定出的新异构体IHH c.331_333del突变可导致HEK293T细胞中的IHH蛋白成熟失败
Ting Zhu,Lijie Guan,Dan Chen et al.
Ting Zhu et al.
Brachydactyly A1 (BDA1) is a rare disorder characterized by the disproportionate shortening of fingers and/or toes with or without symphalangism. Mutations in Indian hedgehog signaling molecule (IHH), which impair the effect of functional I...
Yidan Gao,Shiwei Shen,Yongjun Wang et al.
Yidan Gao et al.
In modern medicine, spleen, the largest secondary lymphoid organ, is responsible for red blood cell turnover and immune inductions. The immune system and spleen actively orchestrate local or systemic inflammatory responses under different d...
TonguExpert: A Deep Learning-Based Algorithm Platform for Fine-Grained Extraction and Classification of Tongue Phenotypes [0.03%]
基于深度学习的舌象细微信息提取及分类算法平台研究
Ting Li,Ling Zuo,Pengyu Wang et al.
Ting Li et al.
Tongue analysis holds promise for disease detection and health monitoring, especially in traditional Chinese medicine. However, its subjectivity hinders clinical applications. Deep learning offers a path for automated tongue diagnosis, yet ...
Differences in Pathogenetic Mechanism Between Tibetan and Han High-Altitude Polycythemia Based on a Whole Genome-Wide Association Study [0.03%]
基于全基因组关联研究的藏汉高海拔多血症发病机制差异分析
Zhuoma Basang,Shixuan Zhang,Xianwei Ke et al.
Zhuoma Basang et al.
High-altitude polycythemia (HAPC) is a prevalent chronic condition affecting individuals at high altitudes, including both highland and plains populations. This study, involving 2248 participants, explored genetic susceptibility to HAPC amo...
Multi-Omics Exploration of Obesity Biomarkers in Sedentary and Weight Loss Cohorts [0.03%]
基于多组学的肥胖生物标志物在久坐人群和减重人群队列中的研究
Hui Wang,Yixiao Zhuang,Rong Hua et al.
Hui Wang et al.
Sedentary behavior for two years during the coronavirus disease 2019 (COVID-19) pandemic contributes to weight gain. Gut microbiota and blood metabolome are related to body mass index (BMI) and indicate individual metabolic changes. Surgery...
Causal Assessment of Phenotypic Risk Factors with Keratinocyte Carcinoma [0.03%]
表型风险因素的因果评估与角质细胞癌的关系
Yantao Xu,Zixi Jiang,Ying Wang et al.
Yantao Xu et al.
Previous observational and genomic-wide association studies (GWAS) suggested the association between several phenotypic factors and keratinocyte carcinoma, including lifestyle and dietary, photodamage-related conditions and socioeconomic st...
A EPCAM Pathogenic Variant in Familial Lynch Syndrome-Associated Colon Cancer: Insights into Genetic Basis and Tumor Microenvironment Characteristics [0.03%]
Lynch综合征家族性结直肠癌中EPCAM致病突变的意义：遗传机制与肿瘤微环境特征的启示
Sumeng Wang,Ke Zhang,Yifei Cheng et al.
Sumeng Wang et al.
Lynch syndrome (LS) is an inherited condition caused by germline mutations in genes involved in DNA mismatch repair (MMR), which could increase the risk of developing colorectal cancer and other types of cancers. Current understanding of MM...
Precision Dietary Intervention: Gut Microbiome and Meta-metabolome as Functional Readouts [0.03%]
精准膳食干预：肠道微生物组和代谢组的功用读数反应
Jing Luo,Yulan Wang
Jing Luo
Gut microbiome, the group of commensals residing within the intestinal tract, is closely associated with dietary patterns by interacting with food components. The gut microbiome is modifiable by the diet, and in turn, it utilizes the undige...
Implication of Gut Mycobiome and Virome in Type-2 Diabetes Mellitus: Uncovering the Hidden Players [0.03%]
肠道真菌和噬菌体在2型糖尿病发病机制中作用的初步探索
Mona Kriti,Raj Ojha,Samradhi Singh et al.
Mona Kriti et al.
Type-2 diabetes mellitus (T2DM) is a global epidemic with significant societal costs. The gut microbiota, including its metabolites, plays a pivotal role in maintaining health, while gut dysbiosis is implicated in several metabolic disorder...
Topology of gut Microbiota Network and Guild-Based Analysis in Chinese Adults [0.03%]
基于肠道微生物群网络拓扑和功能门类的分析在中国成年人中的结果
Jiongxing Fu,Danxia Yu,Wei Zheng et al.
Jiongxing Fu et al.
Gut microbiota with co-abundant behaviors is considered belonging to the same guild in micro-ecosystem. In this study, we established co-abundance networks of operational taxonomic units (OTUs) among 2944 Chinese adults from the Shanghai Me...