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Yi-Ling Qiu

fudan university

H指数:14

被引数:600

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

一种针对MYO5B相关胆汁淤积的肝脏特异性小鼠模型揭示了毒性获得性功能是潜在的疾病机制

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

IF2.2

2025-04-010

PRE

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

肝细胞Usp53的缺失保护小鼠免受一种外源性化学物质诱导的肝损伤

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

IF4.2

2025-03-010

PRE

ZFYVE19 deficiency: a ciliopathy involving failure of cell division, with cell death

JOURNAL OF MEDICAL GENETICS

IF3.7

2024-05-300

OAAI

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

IF3.7

2023-07-270

OAAI

Recurrent AKR1D1 c.580-13T>A Variant A Cause of D4-3-Oxosteroid-5b-Reductase Deficiency

JOURNAL OF MOLECULAR DIAGNOSTICS

IF3.4

2023-04-012

OAAI

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

LIVER INTERNATIONAL

IF5.2

2022-05-236

PRE

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

MYO5B-associated疾病: 新的肝脏相关变异和基因型-表型相关性

LIVER INTERNATIONAL

IF5.2

2021-11-2911

PREAI

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

JOURNAL OF MOLECULAR DIAGNOSTICS

IF3.4

2021-11-015

OAAI

Unequal Effects of Myosin 5B Mutations in Liver and Intestine Determine the Clinical Presentation of Low-Gamma-Glutamyltransferase Cholestasis

IF15.8

2020-10-1415

OAAI

NBASdisease: 14 new patients, a recurrent mutation, and genotype-phenotype correlation among 24 Chinese patients

HEPATOLOGY RESEARCH

IF3.4

2020-08-3114

PREAI

Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis

JOURNAL OF MEDICAL GENETICS

IF3.7

2020-07-3127

PREAI

A Molecular Mechanism Underlying Genotype-Specific Intrahepatic Cholestasis Resulting From MYO5B Mutations

IF15.8

2020-04-2334

OAAI

TJP2 hepatobiliary disorders: Novel variants and clinical diversity

IF3.7

2019-11-2833

OAAI

Novel missense mutation in VPS33B is associated with isolated low gamma-glutamyltransferase cholestasis: Attenuated, incomplete phenotype of arthrogryposis, renal dysfunction, and cholestasis syndrome

IF3.7

2019-09-0318

OAAI

Comprehensive bile acid profiling in hereditary intrahepatic cholestasis: Genetic and clinical correlations

LIVER INTERNATIONAL

IF5.2

2018-03-1219

PREAI

Splicing analysis of rare/novel synonymous or intronic variants identified in ABCB11 heterozygotes presenting as progressive intrahepatic cholestasis with low -glutamyltransferase

HEPATOLOGY RESEARCH

IF3.4

2018-02-1232

PREAI

Defects in Myosin VB Are Associated With a Spectrum of Previously Undiagnosed Low γ-Glutamyltransferase Cholestasis

IF15.8

2017-03-23141

OAAI