Publications by authors named "Jian-Hui Zhang"

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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, Jian-Hui Zhang, Li Zhang, Xi-Kui Zhang

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, Jian-Hui Zhang, Li Zhang

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, Jian-Hui Zhang, Li Zhang

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, Jian-Hui Zhang, Li Zhang

Gene· 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, Jian-Hui Zhang, Li Zhang

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, Jian-Hui Zhang, Li Zhang

Exp Ther Med· August 2025

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Case report: Secondary neck mass infection in a patient with multiple osteomyelitis caused by Corynebacterium striatum.
Xiang Chen, Jian-Hui Zhang, Jing-Yi Chen, Shu-Guang Chen, Jie-Wei Luo

Medicine (Baltimore)· August 2025

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A rare concurrence of monoclonal gammopathies in an older adult with tubulointerstitial nephritis and uveitis syndrome.
Jian-Hui Zhang, Jie Liu, Qian Chen, Dan-Dan Ruan, Li-Sheng Liao, Li Zhang

BMC Geriatr· July 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, Jian-Hui Zhang, Li Zhang

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, Jian-Hui Zhang

BMC Neurol· May 2025

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Eleutherococcus senticosus Alleviates Aristolochic-Acid-Induced Acute Kidney Damage by Inhibiting the NLRP3/IL-1β Signaling Pathway in Mice.
Jian-Hui Zhang, Mei-Zhu Gao, Qian Chen, Ting Chen, Dan-Dan Ruan

Planta Med· April 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

Dig Dis Sci· March 2025

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Effect of Nutritional Management on the Nutritional Status and Quality of Life of Patients with Chronic Obstructive Pulmonary Disease.
Jian-Hui Zhang

Int J Chron Obstruct Pulmon Dis· March 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, Li Zhang

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, Jian-Hui Zhang, Yan-Ping Zhang, Li Zhang

PLoS One· October 2024

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Author Correction: Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation.
Dan-Dan Ruan, Xing-Lin Ruan, Ruo-Li Wang, Xin-Fu Lin, Yan-Ping Zhang, Jian-Hui Zhang, Yi-Wu Zhang

Sci Rep· September 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, Li Zhang

Front Genet· August 2024

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A pedigree analysis of Rotor hyperbilirubinemia combined with hepatitis B virus infection in a and gene mutations patient.
Li-Zhen Lin, Qiu-Yan Wu, Jian-Hui Zhang, Shi-Jie Li, Wei-Zhen Wu

Heliyon· 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, Li Zhang

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, Jian-Hui Zhang, Li Zhang

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

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

Ann Hematol· May 2024

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Immunogenicity and safety of boosting with a recombinant two-component SARS-CoV-2 vaccine: two randomized, parallel-controlled, phase 2 studies.
Abundio Balgos, Suad Hannawi, Wen-Li Chen, Alaa Abuquta, Linda Safeldin, Jian-Hui Zhang

Expert Rev Vaccines· April 2024

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Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation.
Dan-Dan Ruan, Xing-Lin Ruan, Ruo-Li Wang, Xin-Fu Lin, Yan-Ping Zhang, Jian-Hui Zhang, Yi-Wu Zhang

Sci Rep· April 2024

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Engineering Escherichia coli for high-yielding 2,5-Dimethylpyrazine synthesis from L-Threonine by reconstructing metabolic pathways and enhancing cofactors regeneration.
Xin-Xin Liu, Yao Wang, Jian-Hui Zhang, Yun-Feng Lu, Zi-Xing Dong, Si-Pu Zhang

Biotechnol Biofuels Bioprod· March 2024

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