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J

Jiapeng Ruan

Yale University

H指数:12

被引数:582

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Refining Mouse Models of Gaucher Disease: Advancing Mechanistic Insights, Biomarker Discovery, and Therapeutic Strategies

优化高雪氏病小鼠模型：推进机制洞察、生物标志物发现和治疗策略

International Journal of Molecular Sciences

IF4.9

2026-03-040

OAAI

Precision genomic profiling in Gaucher disease: insights from atypical presentations

高雪氏病中的精准基因组分析：来自非典型表现的见解

Frontiers in Genetics

IF2.8

2025-11-070

OAAI

Modeling bone marrow microenvironment and hematopoietic dysregulation in Gaucher disease through VavCre mediated Gba deletion

通过VavCre介导的Gba基因敲除，对戈谢病中骨髓微环境和造血功能紊乱进行建模

HUMAN MOLECULAR GENETICS

IF3.2

2025-04-080

OA

Investigating the genomic basis of phenotypic diversity among siblings in Gaucher disease

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-02-010

PRE

Digenic disorders in patients with Gaucher disease: Implications for clinical management and study of modifier genes

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-02-010

PRE

Osteonecrosis in Gaucher disease in the era of multiple therapies: Biomarker set for risk stratification from a tertiary referral center

IF0

2023-05-303

OA

Functional characterization of a Trypanosoma brucei TATA-binding protein-related factor points to a universal regulator of transcription in trypanosomes

MOLECULAR AND CELLULAR BIOLOGY

IF2.7

2023-03-2767

OAAI

The risk of hepatocellular carcinoma is markedly increased in Gaucher disease

MOLECULAR GENETICS AND METABOLISM

IF3.5

2023-02-010

PRE

Single cell resolution of neurodegeneration in Gaucher disease

MOLECULAR GENETICS AND METABOLISM

IF3.5

2023-02-010

PRE

Severe pulmonary arterial hypertension in Gaucher disease type 1

MOLECULAR GENETICS AND METABOLISM

IF3.5

2023-02-010

PRE

Osteonecrosis in the era of Gaucher disease therapies

MOLECULAR GENETICS AND METABOLISM

IF3.5

2023-02-010

PRE

Neuroinflammation in neuronopathic Gaucher disease: Role of microglia and NK cells, biomarkers, and response to substrate reduction therapy

IF0

2022-08-1628

OA

Aberrant progranulin, YKL-40, cathepsin D and cathepsin S in Gaucher disease

戈谢病中异常的颗粒蛋白前体，YKL-40，组织蛋白酶D和组织蛋白酶S

MOLECULAR GENETICS AND METABOLISM

IF3.5

2019-09-0113

OAAI

Glucosylsphingosine accelerates α-synuclein pathology in GBA-associated Parkinson disease

MOLECULAR GENETICS AND METABOLISM

IF3.5

2017-01-010

PREAI

Structure and protective efficacy of the Staphylococcus aureus autocleaving protease EpiP

IF4.2

2014-01-1318

OA