Li-sheng M. Liao

Fuzhou, China

Last Updated: 09/26/2026

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Found 35 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

Clinical and genetic analysis of an early-onset sitosterolemia family caused by a novel compound heterozygous ABCG5 mutation.

Clinical and genetic analysis of an early-onset sitosterolemia family caused by a novel compound heterozygous ABCG5 mutation.

Journal: Journal of chromatography. B, Analytical technologies in the biomedical and life sciences
Published: October 25, 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

Different Prophylaxis Strategies for Central Nervous System Recurrence of Diffuse Large B-Cell Lymphoma

Different Prophylaxis Strategies for Central Nervous System Recurrence of Diffuse Large B-Cell Lymphoma

Journal: Zhongguo shi yan xue ye xue za zhi
Published: October 31, 2024

A novel NOTCH1 nonsense variant in a bicuspid aortic valve family with intrafamilial clinical heterogeneity.

A novel NOTCH1 nonsense variant in a bicuspid aortic valve family with intrafamilial clinical heterogeneity.

Journal: BMC cardiovascular disorders
Published: August 24, 2024

A rare concurrence of monoclonal gammopathies in an older adult with tubulointerstitial nephritis and uveitis syndrome.

A rare concurrence of monoclonal gammopathies in an older adult with tubulointerstitial nephritis and uveitis syndrome.

Journal: BMC geriatrics
Published: July 23, 2024
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Last Updated: 09/26/2026