Publications by authors named "You-Sheng Yan"

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[Genetic profiling and intervention strategies for phenylketonuria in Gansu, China: an analysis of 1 159 cases].
Chuan Zhang, Pei Zhang, Bing-Bo Zhou, Xing Wang, Lei Zheng, You-Sheng Yan

Zhongguo Dang Dai Er Ke Za Zhi· July 2025

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Enhancing the Accuracy of Human Phenotype Ontology Identification: Comparative Evaluation of Multimodal Large Language Models.
Wei Zhong, Mingyue Sun, Shun Yao, YiFan Liu, Dingchuan Peng, Yan Liu, Kai Yang, HuiHui Yan, YouSheng Yan

J Med Internet Res· June 2025

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Performance of ChatGPT-4o and Four Open-Source Large Language Models in Generating Diagnoses Based on China's Rare Disease Catalog: Comparative Study.
Wei Zhong, YiFan Liu, Yan Liu, Kai Yang, HuiMin Gao, HuiHui Yan, YouSheng Yan

J Med Internet Res· June 2025

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SEC24D depletion induces osteogenic differentiation deficiency by inactivating the ATF6/TGF-β/Runx2 regulatory loop.
Jing Zhang, Kai Yang, Wen-Qi Chen, Dong-Lan Sun, Hua-Ying Hu, You-Sheng Yan

Commun Biol· May 2025

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SGMS1 facilitates osteogenic differentiation of MSCs and strengthens osteogenesis-angiogenesis coupling by modulating Cer/PP2A/Akt pathway.
Kai Yang, Ying-Yi Luan, Shan Wang, You-Sheng Yan, Yi-Peng Wang

iScience· April 2024

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Functional assessment of a novel biallelic MYH3 variation causing CPSKF1B (contractures, pterygia, and spondylocarpotarsal fusion syndrome1B).
Qing-Bing He, Cai-Hong Wu, Dong-Lan Sun, Jia-Yu Yuan, Hua-Ying Hu, Kai Yang, You-Sheng Yan

Mol Genet Genomic Med· March 2024

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NTRK1 knockdown induces mouse cognitive impairment and hippocampal neuronal damage through mitophagy suppression via inactivating the AMPK/ULK1/FUNDC1 pathway.
Kai Yang, Jue Wu, Shang Li, Shan Wang, Jing Zhang, You-Sheng Yan, Yang Zeng

Cell Death Discov· October 2023

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Assessment of a novel variation in DHODH gene causing Miller syndrome: The first report in Chinese population.
Kai Yang, Li-Man Fu, Xiao-Yang Chu, Jing Zhang, Wen-Qi Chen, You-Sheng Yan

Mol Genet Genomic Med· July 2023

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Prenatal Cases Reflect the Complexity of the Associated Osteogenesis Imperfecta.
Kai Yang, Yan Liu, Jue Wu, Jing Zhang, Hua-Ying Hu, You-Sheng Yan, Shu-Fa Yang

Genes (Basel)· September 2022

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Investigation of an inherited PCGF2: p.Pro65Leu mutation causing Turnpenny-Fry syndrome.
Ke-Yan Qi, Ming Shen, Kai Yang, You-Sheng Yan, Jue Wu

Am J Transl Res· August 2022

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Investigation of a Novel Variation Causing Congenital Insensitivity to Pain With Anhidrosis.
Kai Yang, Yi-Cheng Xu, Hua-Ying Hu, Ya-Zhou Li, Qian Li, Yan Liu, You-Sheng Yan

Front Genet· December 2021

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Metabolic and biophysical study of the MFN2 mutant causing Hereditary Motor and Sensory Neuropathy (HMSN).
Kai Yang, Hua-Ying Hu, Jing Zhang, You-Sheng Yan, Wen-Qi Chen, Yan Liu

Am J Transl Res· October 2021

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Investigation of a Novel Variant Causing Autosomal-Dominant Tooth Agenesis.
Yan-Xia Huang, Chun-Yan Gao, Chun-Yan Zheng, Xu Chen, You-Sheng Yan, Kai Yang

Front Genet· July 2021

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A clinical and multi‑omics study of Van der Woude syndrome in three generations of a Chinese family.
Kai Yang, Xing-Yue Dong, Jue Wu, Jian-Jiang Zhu, Ya Tan, You-Sheng Yan

Mol Med Rep· October 2020

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[Value of oral mucosa cast-off cells as samples in fluorescent in situ hybridization for the diagnosis of Down's syndrome].
Lei Zheng, Dong-Hai Liu, Sheng-Ju Hao, Bin Yi, You-Sheng Yan

Zhongguo Dang Dai Er Ke Za Zhi· March 2012

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[Mutation analysis of KIF21A gene in a Chinese family with congenital fibrosis of the extraocular muscles type I].
You-sheng Yan, Sheng-ju Hao, Gang Wang, Liang Peng, Xiao-ping Hu, Hai-yan Jiao

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· October 2011

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[Mutation analysis of the PAH gene in patients with phenylketonuria in Gansu province].
You-sheng Yan, Zheng Wang, Sheng-ju Hao, Yan Meng, Lei Zheng

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· August 2009

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