Qian Y. Chen

No. 134 East Street
Fuzhou, 350001, China

Last Updated: 09/26/2026

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Found 35 publications

Clinical and genetic analysis of Liver-Predominant ornithine transcarbamylase deficiency caused by a novel de novo OTC sequence variant in a female child.

Clinical and genetic analysis of Liver-Predominant ornithine transcarbamylase deficiency caused by a novel de novo OTC sequence variant in a female child.

Journal: Gene

Published: May 02, 2026

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

Serum peptidomics by MALDI-TOF MS coupled with machine learning approaches for diagnosis of primary liver cancer.

Serum peptidomics by MALDI-TOF MS coupled with machine learning approaches for diagnosis of primary liver cancer.

Journal: Analytical and bioanalytical chemistry

Published: November 16, 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

Mechanism of Hypoxia-Induced HMGB1 Regulating NLRP3 Inflammasome/Caspase-1 Pathway-Mediated Pyroptosis in Myocardial Ischemia Reperfusion Injury Through the Nrf2/HO-1 Pathway.

Mechanism of Hypoxia-Induced HMGB1 Regulating NLRP3 Inflammasome/Caspase-1 Pathway-Mediated Pyroptosis in Myocardial Ischemia Reperfusion Injury Through the Nrf2/HO-1 Pathway.

Journal: CNS neuroscience & therapeutics

Published: July 04, 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

Eleutherococcus senticosus Alleviates Aristolochic-Acid-Induced Acute Kidney Damage by Inhibiting the NLRP3/IL-1β Signaling Pathway in Mice.

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.

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

Intraprocedural activated clotting time and heparin dosage in pulsed field ablation of paroxysmal atrial fibrillation.

Intraprocedural activated clotting time and heparin dosage in pulsed field ablation of paroxysmal atrial fibrillation.

Journal: Frontiers in cardiovascular medicine

Published: September 25, 2024

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Last Updated: 09/26/2026