Publications by authors named "Hong Ping Yu"

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De novo PKD1 splicing and missense variants in two familial ADPKD: Molecular characterization and genetic counseling implications.
Juan Zhu, Zi-Yan Xu, Hong-Ping Yu, Ruo-Li Wang, Yi-Jia Luo, Yun-Fei Li

Gene· February 2026

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A de novo INSR variant in Type A insulin resistance syndrome: familial investigation and genetic implications.
Xin Lin, Zi-Yan Xu, Li-Jun Xie, Juan Zhu, Hong-Ping Yu, Yun-Fei Li

Gene· February 2026

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Fasudil targets the RhoA/ROCK-NLRP3 axis to attenuate aristolochic acid-induced renal pyroptosis: translational validation by in vivo molecular imaging.
Mei-Zhu Gao, Yan-Feng Zhou, Zi-Yan Xu, Li-Jun Xie, Zhi-Hai Zheng, Hong-Ping Yu

Int Immunopharmacol· January 2026

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Genetic analysis of a family with skeletal muscle ion channelopathy and hereditary spastic paraplegia type 7 caused by SCN4A and SPG7 double mutations.
Hong-Ping Yu, Zi-Yan Xu, Meng-Qian Wu, Qian Chen, Zhi-Hai Zheng, Yun-Fei Li

Gene· November 2025

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Genome-wide association study of HBV-related hepatocellular carcinoma identifies a functional variant at the FAM114A1 locus.
Hong-Ping Yu, Bang-De Xiang, Ji Qian, Hongliang Liu, Yuan-Feng Li, Xiaoyun Zeng, Yuan Yang, Mengyun Wang

J Genet Genomics· November 2025

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Targeting neutrophil extracellular traps: A novel strategy for treating heterotopic ossification.
Chen-Yu Song, Hong-Ping Yu, Fei-Yan Mu, Jing-Shun Lu, Min Yang

World J Orthop· November 2025

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A novel NOTCH1 nonsense variant in a bicuspid aortic valve family with intrafamilial clinical heterogeneity.
Qian Chen, Zi-Yan Xu, Wu Chi, Xiang Chen, Jing Zou, Hong-Ping Yu

BMC Cardiovasc Disord· September 2025

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Genetic and clinical insights into acute kidney injury in maturity-onset diabetes of the young caused by the c.2500C>T mutation: Potential risk factors associated with SGLT2 inhibitors.
Jing Zou, Xiang Chen, Hong-Ping Yu, Ying Chen, Kai-Ying He, Yu-Mian Gan

Exp Ther Med· August 2025

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Genetic analysis of a novel TSC1 splice mutation causing tuberous sclerosis without neurological phenotypes.
Xiu-Juan Yao, Ying Lin, Jing Zou, Zun-Lin Cai, Zi-Yan Xu, Hong-Ping Yu

Sci Rep· July 2025

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Diagnostic journey and genetic analysis of a novel homozygous CYP2U1 mutation causing autosomal recessive spastic paraplegia type 56 (SPG56) in a consanguineous family.
Hong-Ping Yu, Jing Zou, Xiang Chen, Ying Chen, Dan-Dan Ruan, Yun-Fei Li

BMC Neurol· May 2025

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Correction to: Pedigree Analysis of Nonclassical Cholesteryl Ester Storage Disease with Dominant Inheritance in a LIPA I378T Heterozygous Carrier.
Jian-Hui Zhang, Ai-Ping Lin, Li Zhang, Dan-Dan Ruan, Mei-Zhu Gao, Hong-Ping Yu, Shi-Yun Lu

Dig Dis Sci· March 2025

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Clinical genetic analysis of an adult polyglucosan body disease (APBD) family caused by the compound heterozygous variant of p.R156C and deletion exon 3-7.
Juan Zhu, Hong-Ping Yu, Jing Zou, Yi-Wu Zhang, Xin-Qi Han, Yun-Fei Li

Front Genet· March 2025

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A novel stoploss mutation CYB5R3 c.906A>G(p.*302Trpext*42) involved in the pathogenesis of hereditary methemoglobinemia.
Kai-Ying He, Hong-Ping Yu, Jing Zou, Xiang Chen, Li Chen

Clin Chim Acta· January 2025

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Case report: a rare concurrence of dense deposit disease in an adolescent patient with IgA nephropathy.
Jian-Hui Zhang, Hong-Ping Yu, Ying Chen, Qian Chen, Xiao-Ling Zheng

BMC Pediatr· January 2025

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Analysis of low-density lipoprotein receptor gene mutations in a family with familial hypercholesterolemia.
Ya-Nan Hu, Min Wu, Hong-Ping Yu, Qiu-Yan Wu, Ying Chen

PLoS One· October 2024

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Analyzing three pedigrees in X-linked Alport syndrome with the presentation of nephrotic syndrome.
Jian-Hui Zhang, Jie Liu, Dan-Dan Ruan, Qian Chen, Jie Yang, Hong-Ping Yu

Front Genet· August 2024

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A novel splicing mutation DNAH5 c.13,338 + 5G > C is involved in the pathogenesis of primary ciliary dyskinesia in a family with primary familial brain calcification.
Xiu-Juan Yao, Qian Chen, Hong-Ping Yu, Dan-Dan Ruan, Shi-Jie Li

BMC Pulm Med· July 2024

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A rare concurrence of acute tubular necrosis and chronic glomerular sclerosis in a patient with wasp stings.
Jian-Hui Zhang, Jing Zou, Dan-Dan Ruan, Qian Chen, Min Wu, Hong-Ping Yu

Heliyon· July 2024

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study of p.Ala275Pro mutant causing alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism.
Dan-Dan Ruan, Jing Zou, Li-Sheng Liao, Ming-Dong Ji, Ruo-Li Wang, Hong-Ping Yu, Yun-Fei Li

Front Neurosci· July 2024

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Pedigree Analysis of Nonclassical Cholesteryl Ester Storage Disease with Dominant Inheritance in a LIPA I378T Heterozygous Carrier.
Jian-Hui Zhang, Ai-Ping Lin, Li Zhang, Dan-Dan Ruan, Mei-Zhu Gao, Hong-Ping Yu, Shi-Yun Lu

Dig Dis Sci· June 2024

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Adult type I Gaucher disease with splenectomy caused by a compound heterozygous GBA1 mutation in a Chinese patient: a case report.
Jian-Hui Zhang, Hui Chen, Dan-Dan Ruan, Ying Chen, Li Zhang, Hong-Ping Yu

Ann Hematol· May 2024

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Integrating single-cell and bulk RNA sequencing reveals CK19 + cancer stem cells and their specific SPP1 + tumor-associated macrophage niche in HBV-related hepatocellular carcinoma.
Cheng-Lei Yang, Rui Song, Jun-Wen Hu, Jun-Tao Huang, Nan-Nan Li, Yuan-Kuan Li, Hong-Ping Yu

Hepatol Int· February 2024

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Radiotherapy plus anti-PD1 versus radiotherapy for hepatic toxicity in patients with hepatocellular carcinoma.
Rui-Jun Zhang, Hong-Mei Zhou, Hai-Yan Lu, Hong-Ping Yu, Wei-Zhong Tang

Radiat Oncol· August 2023

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Clinical implications and biological features of a novel postoperative recurrent HCC classification: A multi-centre study.
Lu-Nan Qi, Liang Ma, Fei-Xiang Wu, Yuan-Yuan Chen, Jing-Xuan Xu, Yu-Chong Peng, Hong-Ping Yu

Liver Int· October 2022

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Determination of the median effective dose of sufentanil for inhibiting the laryngeal mask insertion response in geriatric patients: a prospective, double-blinded, dose-response trial.
ShiFang Wang, WeiBing Wang, JinBo Xiao, HongPing Yu, Hui Zhou

BMC Anesthesiol· July 2022

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