Yi-ling Qiu

Wan Yuan Road 399
Shanghai, 201102, China

Last Updated: 09/26/2026

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Found 25 publications

Liver transcriptome sequencing contributes to the molecular diagnosis of genetic liver diseases.

Liver transcriptome sequencing contributes to the molecular diagnosis of genetic liver diseases.

Journal: Hepatology (Baltimore, Md.)

Published: October 11, 2025

A novel mechanism involving USP53-regulated BSEP trafficking underlies low-GGT intrahepatic cholestasis.

A novel mechanism involving USP53-regulated BSEP trafficking underlies low-GGT intrahepatic cholestasis.

Journal: Hepatology (Baltimore, Md.)

Published: June 05, 2025

A liver-specific mouse model for MYO5B-associated cholestasis reveals a toxic gain-of-function as underlying disease mechanism.

A liver-specific mouse model for MYO5B-associated cholestasis reveals a toxic gain-of-function as underlying disease mechanism.

Journal: Biochemical and biophysical research communications

Published: March 13, 2025

Loss of hepatocyte Usp53 protects mice from a form of xenobiotic-induced liver injury.

Loss of hepatocyte Usp53 protects mice from a form of xenobiotic-induced liver injury.

Journal: Biochimica et biophysica acta. Molecular basis of disease

Published: August 14, 2024

Splicing Analysis of MYO5B Noncanonical Variants in Patients with Low Gamma-Glutamyltransferase Cholestasis.

Splicing Analysis of MYO5B Noncanonical Variants in Patients with Low Gamma-Glutamyltransferase Cholestasis.

Journal: Human mutation

Published: April 24, 2023

Recurrent AKR1D1 c.580-13T>A Variant: A Cause of Δ4-3-Oxosteroid-5β-Reductase Deficiency.

Recurrent AKR1D1 c.580-13T>A Variant: A Cause of Δ4-3-Oxosteroid-5β-Reductase Deficiency.

Journal: The Journal of molecular diagnostics : JMD

Published: July 28, 2022

Association of novel TMEM67 variants with mild phenotypes of high gamma-glutamyl transpeptidase cholestasis and congenital hepatic fibrosis.

Association of novel TMEM67 variants with mild phenotypes of high gamma-glutamyl transpeptidase cholestasis and congenital hepatic fibrosis.

Journal: Journal of cellular physiology

Published: November 16, 2021

Defining pathogenicity of NOTCH2 variants for diagnosis of Alagille syndrome type 2 using a large cohort of patients.

Defining pathogenicity of NOTCH2 variants for diagnosis of Alagille syndrome type 2 using a large cohort of patients.

Journal: Liver international : official journal of the International Association for the Study of the Liver

Published: September 22, 2021

MYO5B-associated diseases: Novel liver-related variants and genotype-phenotype correlation.

MYO5B-associated diseases: Novel liver-related variants and genotype-phenotype correlation.

Journal: Liver international : official journal of the International Association for the Study of the Liver

Published: August 24, 2021

Whole-Genome Sequencing Reveals Large ATP8B1 Deletion/Duplications as Second Mutations Missed by Exome-Based Sequencing.

Whole-Genome Sequencing Reveals Large ATP8B1 Deletion/Duplications as Second Mutations Missed by Exome-Based Sequencing.

Journal: The Journal of molecular diagnostics : JMD

Published: February 28, 2021

Pediatric Wilson disease presenting as acute liver failure: Prognostic indices.

Pediatric Wilson disease presenting as acute liver failure: Prognostic indices.

Journal: World journal of clinical cases

Published: January 12, 2021

Changes in plasma bile acid profiles after partial internal biliary diversion in PFIC2 patients.

Changes in plasma bile acid profiles after partial internal biliary diversion in PFIC2 patients.

Journal: Annals of translational medicine

Published: April 21, 2020

Showing 1-12 of 25

Last Updated: 09/26/2026