Hong-ping Z. Yu

No. 134 East Street
Fuzhou, 350001, China

Last Updated: 09/26/2026

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Found 22 publications

Phosphoproteomics elucidates the functional impact of the PTPN11 p.Asn308Ser variant in a Noonan syndrome pedigree.

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

De novo PKD1 splicing and missense variants in two familial ADPKD: Molecular characterization and genetic counseling implications.

De novo PKD1 splicing and missense variants in two familial ADPKD: Molecular characterization and genetic counseling implications.

Journal: Gene

Published: October 10, 2025

A de novo INSR variant in Type A insulin resistance syndrome: familial investigation and genetic implications.

A de novo INSR variant in Type A insulin resistance syndrome: familial investigation and genetic implications.

Journal: Gene

Published: September 01, 2025

Genetic analysis of a family with skeletal muscle ion channelopathy and hereditary spastic paraplegia type 7 caused by SCN4A and SPG7 double mutations.

Genetic analysis of a family with skeletal muscle ion channelopathy and hereditary spastic paraplegia type 7 caused by SCN4A and SPG7 double mutations.

Journal: Gene

Published: July 14, 2025

Differential genetic analysis of ectrodactyly in a Fanconi anemia pedigree with FANCA mutations.

Differential genetic analysis of ectrodactyly in a Fanconi anemia pedigree with FANCA mutations.

Journal: MedScience

Published: June 17, 2025

Fasudil targets the RhoA/ROCK-NLRP3 axis to attenuate aristolochic acid-induced renal pyroptosis: translational validation by in vivo molecular imaging.

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.

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

Genetic and clinical insights into acute kidney injury in maturity-onset diabetes of the young caused by the ABCC8 c.2500C>T mutation: Potential risk factors associated with SGLT2 inhibitors.

Genetic and clinical insights into acute kidney injury in maturity-onset diabetes of the young caused by the ABCC8 c.2500C>T mutation: Potential risk factors associated with SGLT2 inhibitors.

Journal: Experimental and therapeutic medicine

Published: January 30, 2025

Genetic analysis of a novel TSC1 splice mutation causing tuberous sclerosis without neurological phenotypes.

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.

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

Case report: a rare concurrence of dense deposit disease in an adolescent patient with IgA nephropathy.

Case report: a rare concurrence of dense deposit disease in an adolescent patient with IgA nephropathy.

Journal: BMC pediatrics

Published: November 14, 2024

Clinical genetic analysis of an adult polyglucosan body disease (APBD) family caused by the compound heterozygous variant of GBE1 p.R156C and deletion exon 3-7.

Clinical genetic analysis of an adult polyglucosan body disease (APBD) family caused by the compound heterozygous variant of GBE1 p.R156C and deletion exon 3-7.

Journal: Frontiers in genetics

Published: October 22, 2024

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Last Updated: 09/26/2026