Jian-hui Zhang
Fuzhou, China
Last Updated: 09/26/2026
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Found 34 publications
Phosphoproteomics elucidates the functional impact of the PTPN11 p.Asn308Ser variant in a Noonan syndrome pedigree.
Journal: Journal of chromatography. B, Analytical technologies in the biomedical and life sciences
Published: November 24, 2025
Fasudil targets the RhoA/ROCK-NLRP3 axis to attenuate aristolochic acid-induced renal pyroptosis: translational validation by in vivo molecular imaging.
Journal: International immunopharmacology
Published: June 14, 2025
Correction to: Pedigree Analysis of Nonclassical Cholesteryl Ester Storage Disease with Dominant Inheritance in a LIPA I378T Heterozygous Carrier.
Journal: Digestive diseases and sciences
Published: February 22, 2025
Eleutherococcus senticosus Alleviates Aristolochic-Acid-Induced Acute Kidney Damage by Inhibiting the NLRP3/IL-1β Signaling Pathway in Mice.
Journal: Planta medica
Published: January 24, 2025
Genetic analysis of a novel TSC1 splice mutation causing tuberous sclerosis without neurological phenotypes.
Journal: Scientific reports
Published: December 28, 2024
Diagnostic journey and genetic analysis of a novel homozygous CYP2U1 mutation causing autosomal recessive spastic paraplegia type 56 (SPG56) in a consanguineous family.
Journal: BMC neurology
Published: December 16, 2024
Author Correction: Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation.
Journal: Scientific reports
Published: September 10, 2024
A novel NOTCH1 nonsense variant in a bicuspid aortic valve family with intrafamilial clinical heterogeneity.
Journal: BMC cardiovascular disorders
Published: August 24, 2024
Analyzing three pedigrees in X-linked Alport syndrome with the presentation of nephrotic syndrome.
Journal: Frontiers in genetics
Published: April 17, 2024
Last Updated: 09/26/2026